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
CSMD3	114788	broad.mit.edu	37	8	113599423	113599423	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:113599423G>A	ENST00000297405.5	-	23	4001	c.3757C>T	c.(3757-3759)Ctg>Ttg	p.L1253L	CSMD3_ENST00000352409.3_Silent_p.L1253L|CSMD3_ENST00000343508.3_Silent_p.L1213L|CSMD3_ENST00000455883.2_Silent_p.L1149L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1253	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGGAGACAGCAAAATTCCT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	222					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19487411	19487411	+	Splice_Site	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:19487411C>T	ENST00000375267.2	-	38	5409	c.5406_splice	c.e38+1	p.Q1802_splice	UBR4_ENST00000375226.2_Splice_Site_p.Q1802_splice|UBR4_ENST00000375254.3_Splice_Site_p.Q1802_splice|UBR4_ENST00000375217.2_Splice_Site_p.Q1802_splice			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1802					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCCCCACCTGGTTCTGTA	0.512000													12	36					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649665	47649665	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:47649665C>G	ENST00000398742.2	+	5	1215	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	GPR111_ENST00000507065.1_Missense_Mutation_p.S389C|GPR111_ENST00000296862.1_Missense_Mutation_p.S457C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	457					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGGCATTTCTATTTGCAGC	0.428000													60	187					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687574	21687574	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:21687574C>A	ENST00000398485.2	+	2	839	c.785C>A	c.(784-786)cCc>cAc	p.P262H	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P238H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	262					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCGTGTCGCCCACGGGCGCC	0.697000													3	71					0.115264	0.115767	1	1	0
SEPHS2	22928	broad.mit.edu	37	16	30456870	30456870	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30456870C>T	ENST00000478753.2	-	1	632	c.179G>A	c.(178-180)tGa>tAa	p.*60*	SEPHS2_ENST00000542752.1_Intron|SEPHS2_ENST00000500504.2_Silent_p.*60*			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	60					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CTTGCAGCCTCAGCCCTTCAT	0.726000													5	6					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12866500	12866500	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:12866500C>T	ENST00000378847.3	+	9	1207	c.870C>T	c.(868-870)caC>caT	p.H290H	CAMK1D_ENST00000378845.1_Silent_p.H290H	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	290	Autoinhibitory domain (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAAACATCCACGAGTCCGTCA	0.517000													7	42					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													7	236					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19063127	19063127	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:19063127C>G	ENST00000421369.3	+	13	2088	c.1530C>G	c.(1528-1530)atC>atG	p.I510M	TMC7_ENST00000304381.5_Missense_Mutation_p.I620M|TMC7_ENST00000569532.1_Missense_Mutation_p.I620M	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	620						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTCTGACAATCAGCATATCAC	0.413000													70	316					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170184960	170184960	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:170184960C>G	ENST00000231706.4	-	8	2514	c.2199G>C	c.(2197-2199)caG>caC	p.Q733H	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	733						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CATCTGACATCTGTTGGTAAT	0.532000													48	208					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26719590	26719590	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:26719590G>A	ENST00000264866.4	+	14	1268	c.990G>A	c.(988-990)ttG>ttA	p.L330L	TBC1D19_ENST00000511789.1_Silent_p.L265L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	330	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CATCTGTGTTGAGTCACTTTG	0.303000													34	105					0	0	1	0	0
NAA38	51691	broad.mit.edu	37	7	117828389	117828389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:117828389C>T	ENST00000424702.1	+	3	210	c.130C>T	c.(130-132)Cga>Tga	p.R44*	NAA38_ENST00000422760.1_Nonsense_Mutation_p.R23*|NAA38_ENST00000249299.2_Nonsense_Mutation_p.R44*			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	44					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AAGCCATGAACGAGTATTCAG	0.338000													41	138					0	0	1	0	0
LAMTOR3	8649	broad.mit.edu	37	4	100808471	100808471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:100808471C>T	ENST00000499666.2	-	4	277	c.85G>A	c.(85-87)Gga>Aga	p.G29R	LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.G29R	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	29					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						ACAGGTACTCCATCTCTATCT	0.279000													7	35					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497261	141497261	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:141497261C>T	ENST00000264952.2	+	1	272	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	45					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGCAGGGCTGCGCGGAGCTCC	0.687000													12	33					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433000													4	134					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004030	57004030	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:57004030G>A	ENST00000606794.1	-	1	645	c.449C>T	c.(448-450)aCg>aTg	p.T150M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	150						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAACTGCCGTGGCCACGGC	0.647000													5	33					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195869	132195869	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:132195869G>A	ENST00000261674.4	+	1	236	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R32Q	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	32					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGGGGCAGCCGAGTGGAGCTC	0.697000													8	32					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880843	152880843	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:152880843G>C	ENST00000323534.2	+	1	815	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	121					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGTGGACCTGGAGGGTGAGCG	0.627000													43	75					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216369938	216369938	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:216369938G>A	ENST00000366943.2	-	19	4594	c.4208C>T	c.(4207-4209)tCt>tTt	p.S1403F	USH2A_ENST00000307340.3_Missense_Mutation_p.S1403F|USH2A_ENST00000366942.3_Missense_Mutation_p.S1403F|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1403	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATTGTTCAGAAAGCATATT	0.408000										HNSCC(13;0.011)			39	129					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64519416	64519416	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:64519416T>A	ENST00000164139.3	-	14	2146	c.1748A>T	c.(1747-1749)cAt>cTt	p.H583L	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.H495L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	583					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGTGATGACATGGAGGCAGTT	0.517000													20	95					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11738200	11738200	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:11738200C>G	ENST00000262442.3	+	49	9560	c.9492C>G	c.(9490-9492)ctC>ctG	p.L3164L	DNAH9_ENST00000454412.2_Silent_p.L3164L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3164	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAGCTCTCAACACCCTGA	0.572000													4	31					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:53852082G>A	ENST00000315251.5	-	9	1944	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	503					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582000													4	141					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456439	30456439	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30456439C>T	ENST00000478753.2	-	1	1063	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SEPHS2_ENST00000542752.1_Missense_Mutation_p.E147K|SEPHS2_ENST00000500504.2_Missense_Mutation_p.E204K			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	204					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTCCTTCCTCAGCCGCATCC	0.517000													34	106					0	0	1	0	0
PDGFA	5154	broad.mit.edu	37	7	550596	550596	+	Silent	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:550596G>T	ENST00000402802.3	-	4	710	c.303C>A	c.(301-303)gtC>gtA	p.V101V	PDGFA_ENST00000354513.5_Silent_p.V101V	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	101					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TCTCGTAAATGACCGTCCTGG	0.667000													3	35					1	1	1	1	0
GAREM	64762	broad.mit.edu	37	18	29867529	29867529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr18:29867529C>A	ENST00000399218.4	-	4	1086	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.R344L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TTTCACATCACGGACAGCCCG	0.562000													33	67					4.34311e-12	4.75673e-12	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	73990774	73990774	+	Splice_Site	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:73990774A>G	ENST00000358602.4	-	18	3464	c.3346_splice	c.e18-1	p.G1116_splice	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Splice_Site_p.G865_splice|ANKRD17_ENST00000509867.2_Splice_Site_p.G1003_splice	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1116					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGGAGTAAAACCTGGAGAAA	0.378000													28	84					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526395	23526395	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:23526395C>G	ENST00000296682.3	+	11	1380	c.1198C>G	c.(1198-1200)Cag>Gag	p.Q400E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	400					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTTTCAAGTCAGAAATTTCT	0.473000										HNSCC(3;0.000094)			34	203					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64649513	64649513	+	RNA	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:64649513C>T	ENST00000587624.1	+	0	1294																											AATTCACCATCAGGTAGGGTA	0.507000													18	51					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87097594	87097594	+	Silent	SNP	T	T	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:87097594T>C	ENST00000441037.2	+	20	2777	c.2682T>C	c.(2680-2682)acT>acC	p.T894T	AGBL1_ENST00000389298.3_Silent_p.T625T|AGBL1_ENST00000421325.2_Silent_p.T894T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	894					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACTGTAGACTCTTCCCAAAA	0.418000													4	7					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45561076	45561076	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:45561076C>T	ENST00000544944.2	+	6	1225	c.533C>T	c.(532-534)gCg>gTg	p.A178V	CLASRP_ENST00000391953.4_Missense_Mutation_p.A116V|CLASRP_ENST00000221455.3_Missense_Mutation_p.A178V			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	178					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GTAGAGAAGGCGGCAGAAAAG	0.612000													27	131					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862009	128862009	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:128862009G>A	ENST00000274487.4	+	4	1073	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	310					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAATAGCAGAAAGTGGAAG	0.358000													18	57					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33813507	33813507	+	Silent	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:33813507A>G	ENST00000403368.1	-	4	486	c.417T>C	c.(415-417)ggT>ggC	p.G139G	FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Silent_p.G139G	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	139										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AGACCTCACTACCGCCTCCTT	0.413000													41	180					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127684082	127684082	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:127684082C>T	ENST00000373555.4	-	9	984	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	217						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GATTGGAGTTCATCAACTCCT	0.438000													54	213					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68659750	68659750	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:68659750G>A	ENST00000262348.4	-	2	520	c.267C>T	c.(265-267)gaC>gaT	p.D89D	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Silent_p.D89D|WLS_ENST00000370976.3_Intron|WLS_ENST00000354777.2_Silent_p.D87D|WLS_ENST00000370971.1_Silent_p.D89D	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	89					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AAAACACGATGTCATTGGCTT	0.463000													18	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179400544	179400544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:179400544C>A	ENST00000589042.1	-	358	101022	c.100798G>T	c.(100798-100800)Gaa>Taa	p.E33600*	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E24727*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E31959*|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31032*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E24660*|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24535*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31959							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)			CCCATGCCTTCAAGAGTTTTA	0.393000													3	60					0.115264	0.115767	1	1	0
PPP2R1A	5518	broad.mit.edu	37	19	52709301	52709301	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:52709301C>T	ENST00000322088.6	+	3	313	c.255C>T	c.(253-255)taC>taT	p.Y85Y	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	85	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCCCAGAGTACGTGCACTGCC	0.612000			Mis		clear cell ovarian carcinoma								26	118					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935484	47935484	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:47935484C>T	ENST00000236877.6	-	9	2724	c.2329G>A	c.(2329-2331)Gtt>Att	p.V777I	SLC8A2_ENST00000542837.1_Missense_Mutation_p.V533I|SLC8A2_ENST00000539381.1_Missense_Mutation_p.V240I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	777					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGAGGCCAACGGTGCAGCCG	0.607000													14	89					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649669	33649669	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:33649669G>A	ENST00000504830.1	-	8	1659	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R442C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	442	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCAAGAAGCGGGTGATGTAC	0.532000										HNSCC(64;0.19)			9	132					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6691446	6691446	+	Splice_Site	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:6691446C>T	ENST00000309577.6	-	29	4619	c.4454_splice	c.e29-1	p.A1486_splice	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site_p.A1451_splice|CHD4_ENST00000357008.2_Splice_Site_p.A1458_splice|CHD4_ENST00000544484.1_Splice_Site_p.A1483_splice|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1458					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGACATATGCCCTGTGTAAA	0.488000													21	70					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745261	131745261	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:131745261G>C	ENST00000372577.2	+	17	1771	c.1750G>C	c.(1750-1752)Gac>Cac	p.D584H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	584					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTCGATAGCAGACTGTCTCCT	0.522000													50	186					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341666	85341666	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:85341666C>G	ENST00000299927.3	+	4	2719	c.2697C>G	c.(2695-2697)ctC>ctG	p.L899L	ZNF592_ENST00000560079.2_Silent_p.L899L			Q92610	ZN592_HUMAN	zinc finger protein 592	899					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTGCCCACTCTTGTTCGTGC	0.567000													29	60					0	0	1	0	0
EQTN	54586	broad.mit.edu	37	9	27286284	27286284	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:27286284G>C	ENST00000380032.3	-	7	641	c.558C>G	c.(556-558)atC>atG	p.I186M	EQTN_ENST00000537675.1_Missense_Mutation_p.I157M	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		TCATCAACGAGATTCCCAGCA	0.458000													7	20					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	101					0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135759439	135759439	+	Missense_Mutation	SNP	C	C	A	rs140311024	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:135759439C>A	ENST00000372136.3	+	2	552	c.105C>A	c.(103-105)aaC>aaA	p.N35K	C9orf9_ENST00000356311.5_Missense_Mutation_p.N35K|C9orf9_ENST00000350499.6_Missense_Mutation_p.N35K			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	35								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCAGGGAGAACGCCCACGACA	0.617000													3	72					0.115264	0.115767	1	1	0
TGDS	23483	broad.mit.edu	37	13	95233394	95233394	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:95233394G>C	ENST00000261296.5	-	6	626	c.506C>G	c.(505-507)tCt>tGt	p.S169C	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	169					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AGCTGCTTTAGATGATGCATA	0.299000													16	77					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092779	30092779	+	RNA	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr18:30092779C>T	ENST00000567636.1	+	0	1154					NR_003558.1																						ACTGACTCCTCTTCAAGCCAC	0.433000													15	32					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716485	716485	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:716485C>T	ENST00000549091.1	+	38	4869	c.4777C>T	c.(4777-4779)Cta>Tta	p.L1593L	WDR90_ENST00000315764.4_Intron|WDR90_ENST00000293879.4_Silent_p.L1591L|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Silent_p.L190L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1591								p.L1591V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCACAGACCTATGGCTGGC	0.632000													13	36					0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151732598	151732598	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:151732598C>A	ENST00000368830.3	-	7	816	c.732G>T	c.(730-732)aaG>aaT	p.K244N	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.K210N	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	244					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTTTTGGTCTTGGGCTTCT	0.493000													25	70					1.64293e-13	1.80801e-13	1	1	0
POLRMT	5442	broad.mit.edu	37	19	618526	618526	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:618526G>T	ENST00000588649.2	-	17	3468	c.3384C>A	c.(3382-3384)gaC>gaA	p.D1128E		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1128	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		TGTGGGAGGAGTCCAGCGAGT	0.662000													11	30					6.40141e-05	6.69238e-05	1	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16046258	16046258	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:16046258C>T	ENST00000375799.3	+	6	722	c.495C>T	c.(493-495)taC>taT	p.Y165Y	PLEKHM2_ENST00000375793.2_Silent_p.Y165Y	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	165	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGCCCCCTACATGCCCGACT	0.587000													14	83					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40522377	40522377	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:40522377G>A	ENST00000324817.1	-	26	3602	c.3484C>T	c.(3484-3486)Cgt>Tgt	p.R1162C		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1162	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTAGTTTACGAGGTGGAGGC	0.453000													10	10					0	0	1	0	0
CASP6	839	broad.mit.edu	37	4	110612108	110612108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:110612108G>A	ENST00000265164.2	-	6	618	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CASP6_ENST00000352981.3_Nonsense_Mutation_p.Q92*|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	181					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TTCTCTGTCTGATTATCTACT	0.488000													24	84					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171901	68171901	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:68171901G>A	ENST00000243457.3	+	2	1104	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E241K	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	241					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TTCTGAAGGGGAGTATATCCC	0.448000													33	87					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58608533	58608533	+	Silent	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:58608533G>C	ENST00000317147.5	-	16	2291	c.1959C>G	c.(1957-1959)gcC>gcG	p.A653A	CNOT1_ENST00000441024.2_Silent_p.A653A|CNOT1_ENST00000569240.1_Silent_p.A653A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTGCAGACAGGCCAACATTG	0.423000													32	105					0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83495204	83495204	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:83495204G>A	ENST00000286760.4	+	7	1600	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	501						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GCAACAGGCTGAAGAAAGCAT	0.408000													37	133					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948610	2948610	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:2948610G>A	ENST00000380520.1	-	6	3047	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	SERPINB6_ENST00000380539.1_Silent_p.A351A|SERPINB6_ENST00000380529.1_Silent_p.A351A|SERPINB6_ENST00000380546.3_Silent_p.A351A|SERPINB6_ENST00000335686.5_Silent_p.A351A|SERPINB6_ENST00000380524.1_Silent_p.A351A			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	351					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGGGGTGGTCGGCGCAGAAGC	0.587000													13	58					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61039224	61039224	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:61039224G>C	ENST00000335613.5	-	14	2094	c.1708C>G	c.(1708-1710)Ctt>Gtt	p.L570V	VWCE_ENST00000535710.1_Missense_Mutation_p.L35V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	570	VWFC 4.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGTCGTCAAGAGAGCAGCCT	0.532000													2	16					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79933752	79933752	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:79933752G>A	ENST00000438737.2	-	10	1927	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	RBM26_ENST00000438724.1_Missense_Mutation_p.S496F|RBM26_ENST00000267229.7_Missense_Mutation_p.S496F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	496					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AGGCTCTCCAGAACCAATGGT	0.363000													70	202					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738550	41738550	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:41738550C>T	ENST00000373018.3	-	7	1537	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	FRS3_ENST00000259748.2_Missense_Mutation_p.R429H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	429					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCTTAGGGCGGTCTCCACC	0.637000													6	74					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059077	248059077	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:248059077C>T	ENST00000537741.1	+	3	446	c.189C>T	c.(187-189)ctC>ctT	p.L63L	OR2W3_ENST00000360358.3_Silent_p.L63L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTTCTTCCTCGCCCACCTTT	0.572000													49	261					0	0	1	0	0
CBX3	11335	broad.mit.edu	37	7	26251377	26251377	+	Splice_Site	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:26251377G>C	ENST00000337620.4	+	5	853		c.e5+1		CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TCATGAAATGGTGAGTATGCA	0.368000													21	62					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521054	22521054	+	RNA	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:22521054G>A	ENST00000390449.3	+	0	82																											AGGTGACGCAGATTCCTGCAG	0.433000													30	141					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148192	93148192	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:93148192G>A	ENST00000298050.3	+	13	1650	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	CCDC67_ENST00000525646.1_Missense_Mutation_p.R259K	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	517										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GAGCCAAACAGAAGTACAATG	0.398000													91	113					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105850745	105850745	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:105850745C>G	ENST00000447393.1	+	17	2011	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	PACS2_ENST00000551743.1_Missense_Mutation_p.F122L|PACS2_ENST00000547217.1_Missense_Mutation_p.F578L|PACS2_ENST00000458164.2_Missense_Mutation_p.F612L|PACS2_ENST00000325438.8_Missense_Mutation_p.F608L|PACS2_ENST00000430725.2_Missense_Mutation_p.F533L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	608					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACAACAACTTCTTCCAGGACC	0.677000													12	35					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103344516	103344516	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:103344516G>C	ENST00000370162.3	-	5	1228	c.734C>G	c.(733-735)tCa>tGa	p.S245*	POLL_ENST00000370172.1_Nonsense_Mutation_p.S157*|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.S245*|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.Q103E|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.S245*|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	245					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTTCTGGCTTGAGGGCTGTGC	0.582000								DNA polymerases (catalytic subunits)					26	66					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824413	55824413	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:55824413G>A	ENST00000326652.4	-	8	698	c.516C>T	c.(514-516)ctC>ctT	p.L172L	TMEM150B_ENST00000438693.1_Silent_p.L172L			A6NC51	T150B_HUMAN	transmembrane protein 150B	172						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGCAGGCGTGGAGGACGATCA	0.687000													5	15					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4863755	4863755	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:4863755C>T	ENST00000321919.9	-	12	1178	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	GLYR1_ENST00000381983.3_Missense_Mutation_p.V351I|GLYR1_ENST00000436648.5_Missense_Mutation_p.V287I|GLYR1_ENST00000591451.1_Missense_Mutation_p.V362I	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	368					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGCTCAGTGACGGTGTCAGCG	0.592000													6	29					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29591083	29591083	+	Splice_Site	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:29591083G>A	ENST00000377034.4	-	8	1297	c.963_splice	c.e8+1	p.S321_splice	GABBR1_ENST00000377012.4_Splice_Site_p.S204_splice|GABBR1_ENST00000355973.3_Splice_Site_p.S204_splice|GABBR1_ENST00000376977.3_Splice_Site_p.S321_splice|GABBR1_ENST00000377016.4_Splice_Site_p.S259_splice	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	321					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCTCCTCACCGAAGTGAAGAC	0.517000													13	50					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40689478	40689478	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:40689478G>A	ENST00000225927.2	+	2	547	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	149						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GACTGGGCCCGCTGGGAGCGA	0.627000													4	133					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232925	26232925	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:26232925T>C	ENST00000354667.4	-	10	1114	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.M304V	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	316	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCACTCTTCATTGGACCGTAG	0.343000			T	ETV1	prostate								4	176					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45422422	45422422	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:45422422G>A	ENST00000331493.2	+	8	886	c.475G>A	c.(475-477)Gat>Aat	p.D159N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.D159N	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GACATTATATGATGAAGTAAC	0.313000													48	175					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62670718	62670718	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:62670718C>T	ENST00000337910.5	-	4	560	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E75K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	75	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACACTCACTTCATCAACAACA	0.488000													17	75					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100463729	100463729	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:100463729G>A	ENST00000240851.4	+	7	1114	c.774G>A	c.(772-774)ccG>ccA	p.P258P	TFG_ENST00000490574.1_Silent_p.P258P|TFG_ENST00000418917.2_Silent_p.P254P|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Silent_p.P254P	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	258					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACAGCAGCCGCAGGCTCCAC	0.468000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								19	104					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3444828	3444828	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:3444828G>A	ENST00000382774.3	+	3	465	c.350G>A	c.(349-351)cGc>cAc	p.R117H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R117H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	117	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGGGGCCGCATGCTGCAT	0.721000													3	16					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132400683	132400683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:132400683C>G	ENST00000304858.2	+	2	408	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	40					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTTGCATTTCTTTTGGTCCT	0.343000													33	161					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150808789	150808789	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:150808789C>T	ENST00000358595.5	-	7	867	c.667G>A	c.(667-669)Gag>Aag	p.E223K	ARNT_ENST00000515192.1_Missense_Mutation_p.E214K|ARNT_ENST00000505755.1_Missense_Mutation_p.E208K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.E223K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	223	PAS 1.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAAGCTGCTCACGAAGTTTA	0.448000			T	ETV6	AML								28	84					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1976646	1976646	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:1976646C>A	ENST00000382895.3	+	21	3860	c.3429C>A	c.(3427-3429)agC>agA	p.S1143R	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1143R|WHSC1_ENST00000382888.3_Missense_Mutation_p.S491R|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1143R|WHSC1_ENST00000508803.1_Missense_Mutation_p.S1143R	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1143	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAATCACAGCTGCCAGCCCA	0.507000			T	IGH@	MM								53	109					1.77205e-36	1.96894e-36	1	1	0
DAB2	1601	broad.mit.edu	37	5	39392478	39392478	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:39392478C>T	ENST00000320816.6	-	4	786	c.319G>A	c.(319-321)Gag>Aag	p.E107K	DAB2_ENST00000509337.1_Missense_Mutation_p.E107K|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000545653.1_Missense_Mutation_p.E107K|DAB2_ENST00000339788.6_Missense_Mutation_p.E107K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCAGTTTTCTCATCAATTATT	0.463000													21	118					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145533469	145533469	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:145533469G>A	ENST00000528838.1	+	4	535	c.375G>A	c.(373-375)ctG>ctA	p.L125L	HSF1_ENST00000400780.4_Silent_p.L60L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	125						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGTCCACCCTGAAGAGTGAAG	0.597000													18	117					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646830	57646830	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:57646830G>C	ENST00000269834.1	-	5	1260	c.875C>G	c.(874-876)tCa>tGa	p.S292*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGGGTTGAGTTCTGCCT	0.378000													118	195					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045557	7045557	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:7045557C>T	ENST00000356654.4	+	5	1364	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	ATN1_ENST00000396684.2_Missense_Mutation_p.S376L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	376	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTTCCTTATTCATCCTCTAGT	0.602000													44	134					0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386198	7386198	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7386198T>A	ENST00000412468.2	+	2	1010	c.895T>A	c.(895-897)Tat>Aat	p.Y299N	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	299	DUF6 2.					integral to membrane											ACTGCAGTATTATATGCTCCA	0.577000													55	170					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28104463	28104463	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:28104463G>C	ENST00000263181.6	-	9	1492	c.1202C>G	c.(1201-1203)aCt>aGt	p.T401S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	401					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ATTTTCATTAGTGAAGGCTTT	0.279000													23	75					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119245170	119245170	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:119245170G>A	ENST00000316316.6	-	3	713	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	MCM9_ENST00000316068.3_Missense_Mutation_p.R143W	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	143					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ATGTAATCCCGCTCAAACTCC	0.468000													5	350					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801464	48801464	+	Silent	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:48801464G>T	ENST00000315396.7	-	11	1945	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	421										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCACTGTCAGGAGCTCCACCA	0.652000													13	63					5.50884e-06	5.78554e-06	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27949543	27949543	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:27949543C>A	ENST00000379992.2	-	6	1576	c.1127G>T	c.(1126-1128)gGt>gTt	p.G376V	LINGO2_ENST00000308675.3_Missense_Mutation_p.G376V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	376	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGCTGGCCACCAAACTGCAG	0.527000													4	66					0.00024832	0.000257268	1	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119236073	119236073	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:119236073G>A	ENST00000494664.1	+	6	820	c.618G>A	c.(616-618)ctG>ctA	p.L206L	TIMMDC1_ENST00000493694.1_Silent_p.L72L	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	206						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGGCCTGCTGATGGCATTTC	0.453000													29	144					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627225	38627225	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:38627225C>A	ENST00000413689.1	-	16	2937	c.2744G>T	c.(2743-2745)tGc>tTc	p.C915F	SCN5A_ENST00000455624.2_Missense_Mutation_p.C915F|SCN5A_ENST00000450102.2_Missense_Mutation_p.C915F|SCN5A_ENST00000449557.2_Missense_Mutation_p.C915F|SCN5A_ENST00000451551.2_Missense_Mutation_p.C915F|SCN5A_ENST00000443581.1_Missense_Mutation_p.C915F|SCN5A_ENST00000425664.1_Missense_Mutation_p.C915F|SCN5A_ENST00000423572.2_Missense_Mutation_p.C915F|SCN5A_ENST00000414099.2_Missense_Mutation_p.C915F|SCN5A_ENST00000333535.4_Missense_Mutation_p.C915F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	915					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACCAGCAGGCATAATGACTG	0.532000													3	58					0.115264	0.115767	1	1	0
RFTN2	130132	broad.mit.edu	37	2	198498526	198498526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:198498526C>G	ENST00000295049.3	-	4	1170	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	212						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGTTCTTCCTCAATTCCGCTT	0.403000													65	155					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401040	55401040	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:55401040G>A	ENST00000391723.3	+	4	565	c.565G>A	c.(565-567)Gca>Aca	p.A189T	FCAR_ENST00000353758.4_Silent_p.T116T|FCAR_ENST00000391724.3_Silent_p.T191T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.T213T|FCAR_ENST00000345937.4_Silent_p.T129T|FCAR_ENST00000355524.3_Silent_p.T225T|FCAR_ENST00000391725.3_Silent_p.T203T|FCAR_ENST00000391726.3_Silent_p.T117T	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATTACACGACGCAGAACTTGA	0.527000													123	537					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103344392	103344392	+	Missense_Mutation	SNP	G	G	A	rs41540413		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:103344392G>A	ENST00000436284.2	-	3	631	c.431C>T	c.(430-432)tCa>tTa	p.S144L	POLL_ENST00000370172.1_Silent_p.L198L|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Silent_p.L286L|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000370162.3_Silent_p.L286L|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Silent_p.L286L|DPCD_ENST00000470165.1_Intron			Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	0					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAAGCTCTTGAGGGCATTGA	0.562000								DNA polymerases (catalytic subunits)					42	107					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47563335	47563335	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr18:47563335C>T	ENST00000285039.7	-	4	639	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	114	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCAACTGTTCATAAGGATTA	0.468000													17	40					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186185722	186185722	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:186185722C>T	ENST00000504273.1	+	4	664	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	SNX25_ENST00000264694.8_Missense_Mutation_p.L124F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	124	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGTGCAGTCTCTCAGCTTACG	0.403000													43	93					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520875	70520875	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:70520875G>C	ENST00000265872.6	+	16	2151	c.2032G>C	c.(2032-2034)Gaa>Caa	p.E678Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.E663Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E663Q	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	678	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACAAAAAGAAGAACAGAAGGA	0.348000													33	99					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154679393	154679393	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:154679393G>A	ENST00000404039.1	+	23	2648	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	DPP6_ENST00000427557.1_Silent_p.A644A|DPP6_ENST00000377770.3_Silent_p.A751A|DPP6_ENST00000332007.3_Silent_p.A689A	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	751					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGCCTCTGCGTTTTCCGAGA	0.592000													69	241					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52216936	52216936	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:52216936C>T	ENST00000540069.2	-	5	1538	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	HAS1_ENST00000222115.1_Missense_Mutation_p.R494Q|HAS1_ENST00000601714.1_Missense_Mutation_p.R501Q			Q92839	HAS1_HUMAN	hyaluronan synthase 1	494					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGCCAGCTTCCGCCGGCCCGA	0.687000													5	4					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552816	108552816	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:108552816C>G	ENST00000265174.4	-	11	1979	c.1707G>C	c.(1705-1707)aaG>aaC	p.K569N		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	569					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCATACGCTTCTTTTTCTTGT	0.423000													45	174					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53578367	53578367	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:53578367G>C	ENST00000429604.1	-	5	500	c.85C>G	c.(85-87)Cag>Gag	p.Q29E	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q29E|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q29E|ZNF160_ENST00000601421.1_5'UTR|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q29E	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	29	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAGATCCTCTGAGCAGGGTCC	0.453000													68	134					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905309	149905309	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:149905309G>A	ENST00000439741.2	-	10	1225	c.975C>T	c.(973-975)ctC>ctT	p.L325L	MTMR11_ENST00000369140.3_Silent_p.L253L|MTMR11_ENST00000406732.3_Silent_p.L297L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	325	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGGCAGGCAGAGGGCCCTCA	0.557000													57	188					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641162	122641162	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:122641162C>T	ENST00000303924.4	-	2	956	c.419G>A	c.(418-420)aGa>aAa	p.R140K		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	140						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGATTTGTCTCTGCCCATGAC	0.443000													86	434					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114238	27114238	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:27114238C>T	ENST00000396891.4	-	1	381	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E114K	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGTGCCCTCGGACACGGCG	0.582000													28	125					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58285677	58285677	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:58285677C>T	ENST00000340635.6	-	10	1532	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	PDE4D_ENST00000502484.2_Missense_Mutation_p.D392N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D331N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D392N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D162N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D151N|PDE4D_ENST00000360047.5_Missense_Mutation_p.D317N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D323N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D389N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	453					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TGGTAATGGTCTTCGAGAGTC	0.343000													17	72					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56482963	56482963	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:56482963C>T	ENST00000370765.6	-	23	5976	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1356					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAAAGTACTCAGAGTAACAC	0.458000													27	68					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979290	40979290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:40979290G>A	ENST00000373198.3	-	11	2078	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q615*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	615	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCCGGGACTGAGCGGGTTTC	0.527000													30	139					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73254078	73254078	+	Silent	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:73254078G>T	ENST00000377110.2	-	11	1722	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	TRPM3_ENST00000423814.3_Silent_p.A520A|TRPM3_ENST00000377105.1_Silent_p.A340A|TRPM3_ENST00000377106.1_Silent_p.A365A|TRPM3_ENST00000408909.2_Silent_p.A340A|TRPM3_ENST00000396280.5_Silent_p.A340A|TRPM3_ENST00000377111.2_Silent_p.A493A|TRPM3_ENST00000396285.1_Silent_p.A340A|TRPM3_ENST00000360823.2_Silent_p.A365A|TRPM3_ENST00000396292.4_Silent_p.A365A|TRPM3_ENST00000358082.3_Silent_p.A365A|TRPM3_ENST00000357533.2_Silent_p.A495A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	518						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGAACTAAGGCATCCAACA	0.448000													4	109					0.014758	0.0150859	1	1	0
ALOX12B	242	broad.mit.edu	37	17	7983186	7983186	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7983186C>G	ENST00000319144.4	-	7	1088	c.828G>C	c.(826-828)ctG>ctC	p.L276L	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	276	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCGGCGGATCAGGCCGGGGT	0.652000										Multiple Myeloma(8;0.094)			7	35					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78681774	78681774	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:78681774A>G	ENST00000306801.3	+	4	844	c.482A>G	c.(481-483)aAc>aGc	p.N161S	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N161S|RPTOR_ENST00000570891.1_Missense_Mutation_p.N161S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	161					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCACAGTCAACGGGGAGGTC	0.592000													11	28					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216705	134216705	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:134216705G>C	ENST00000359579.4	+	3	600	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	94					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GAAAGCCTTTGAGAAGACCCT	0.468000													40	150					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75921517	75921517	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:75921517C>T	ENST00000541687.1	-	5	813	c.754G>A	c.(754-756)Gag>Aag	p.E252K	GCFC2_ENST00000409857.3_Silent_p.L252L|GCFC2_ENST00000321027.3_Silent_p.L290L			P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	0					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										CATACTCCCTCAGGTGTGAGC	0.299000													51	178					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21115663	21115663	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr22:21115663G>A	ENST00000255882.6	-	23	2806	c.2720C>T	c.(2719-2721)tCa>tTa	p.S907L	PI4KA_ENST00000572273.1_Missense_Mutation_p.S849L|PI4KA_ENST00000466162.1_5'UTR	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	849					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGGATCTGTTGAACGCAGTAC	0.393000													23	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056712	9056712	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:9056712G>A	ENST00000397910.4	-	3	30937	c.30734C>T	c.(30733-30735)tCc>tTc	p.S10245F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10247	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGGGAAGGAGGTTATCCC	0.463000													24	62					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043113	184043113	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:184043113G>A	ENST00000342981.4	+	18	3330	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	EIF4G1_ENST00000352767.3_Silent_p.T978T|EIF4G1_ENST00000382330.3_Silent_p.T978T|EIF4G1_ENST00000319274.6_Silent_p.T971T|EIF4G1_ENST00000424196.1_Silent_p.T978T|EIF4G1_ENST00000427845.1_Silent_p.T885T|EIF4G1_ENST00000414031.1_Silent_p.T931T|EIF4G1_ENST00000350481.5_Silent_p.T807T|EIF4G1_ENST00000411531.1_Silent_p.T932T|EIF4G1_ENST00000392537.2_Silent_p.T884T|EIF4G1_ENST00000441154.1_Silent_p.T808T|EIF4G1_ENST00000346169.2_Silent_p.T971T|EIF4G1_ENST00000435046.2_Silent_p.T775T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.T776T	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	971	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAAGAAGACGTCATCCCGCA	0.522000													32	162					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100511136	100511136	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:100511136C>G	ENST00000395209.3	+	21	2803	c.2276C>G	c.(2275-2277)tCc>tGc	p.S759C	DRP2_ENST00000541709.1_Missense_Mutation_p.S681C|DRP2_ENST00000538510.1_Missense_Mutation_p.S759C|DRP2_ENST00000402866.1_Missense_Mutation_p.S759C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	759					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTGCGGCACTCCAGCCCCATC	0.572000													26	58					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	74					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4169596	4169596	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:4169596G>A	ENST00000404826.2	+	27	4135	c.3996G>A	c.(3994-3996)ggG>ggA	p.G1332G	SDK1_ENST00000389531.3_Silent_p.G1332G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1332	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGTGCGAGGGAACCACACGC	0.652000													25	72					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676496	33676496	+	RNA	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:33676496C>A	ENST00000532280.1	-	0	1001					NR_023917.1																						CTTACTACATCATCAATATTG	0.348000													34	120					1.08052e-11	1.17782e-11	1	1	0
XDH	7498	broad.mit.edu	37	2	31621533	31621533	+	Silent	SNP	G	G	A	rs118042822	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:31621533G>A	ENST00000379416.3	-	5	387	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	113					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.C113C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGCAGAACCCGCACTGGGAGC	0.552000													55	175					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863030	10863030	+	RNA	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr21:10863030A>G	ENST00000559480.1	+	0	326																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGATCTGAGGACACGGCCATG	0.507000													66	606					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161864	90161864	+	RNA	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:90161864C>T	ENST00000564451.1	+	0	1217				TUBB8P7_ENST00000567960.1_RNA																							ATGAGACCTTCTGCATAGATA	0.517000													4	95					0	0	1	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007779	32007779	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr21:32007779G>A	ENST00000330798.2	+	1	225	c.197G>A	c.(196-198)tGa>tAa	p.*66*		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	0						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCTTCTACTGAGAAATATCT	0.468000													49	117					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791298	17791298	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:17791298A>T	ENST00000380607.4	+	7	814	c.694A>T	c.(694-696)Atc>Ttc	p.I232F	SH3GL2_ENST00000537391.1_Missense_Mutation_p.I185F	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	232	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GGCAGTCCAGATCCTGCAGCA	0.433000													34	131					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242312558	242312558	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:242312558G>A	ENST00000264042.3	+	2	206	c.36G>A	c.(34-36)caG>caA	p.Q12Q	FARP2_ENST00000545004.1_Silent_p.Q12Q|FARP2_ENST00000373287.4_Silent_p.Q12Q|FARP2_ENST00000479427.1_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	12					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAGTCCTGCAGACTGCAGGGA	0.488000													36	79					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649354	69649354	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chrX:69649354C>T	ENST00000453994.2	+	11	1309	c.948C>T	c.(946-948)ttC>ttT	p.F316F	GDPD2_ENST00000374382.3_Silent_p.F316F|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Silent_p.F237F|GDPD2_ENST00000538649.1_Silent_p.F237F	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	316	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGCGACCCTTCTGGGGGGCCA	0.522000													12	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			25	71					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124803982	124803982	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:124803982G>C	ENST00000358776.4	+	7	895	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ACADSB_ENST00000368869.4_Missense_Mutation_p.R192T|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	294	Substrate binding.				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	AATGAAGGTAGAATAGGAATT	0.358000													20	72					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621181	41621181	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:41621181C>T	ENST00000373050.4	+	4	613	c.426C>T	c.(424-426)tgC>tgT	p.C142C				Q99750	MDFI_HUMAN	MyoD family inhibitor	203					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GCTGCTGCTGCTGTGGCTCTG	0.657000													3	105					0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119248743	119248743	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:119248743C>T	ENST00000264246.3	-	5	1104	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	CD80_ENST00000478182.1_Missense_Mutation_p.A248T|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	248					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	AAGGTAATGGCCCAGGATGGG	0.403000													20	114					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154926182	154926182	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:154926182C>T	ENST00000368463.3	-	2	87	c.16G>A	c.(16-18)Gac>Aac	p.D6N	PBXIP1_ENST00000368460.3_Missense_Mutation_p.D6N|PBXIP1_ENST00000368465.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Missense_Mutation_p.D6N	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	6					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTATCAGAGTCTGGGCAGGAG	0.607000													10	24					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128755858	128755858	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:128755858G>A	ENST00000436022.2	+	6	1488	c.177G>A	c.(175-177)ctG>ctA	p.L59L	EFCC1_ENST00000480450.1_Silent_p.L496L	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		ATGAGCACCTGAGGCTGGAGC	0.627000													20	65					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65357567	65357567	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr15:65357567C>T	ENST00000220062.4	-	2	424	c.148G>A	c.(148-150)Gac>Aac	p.D50N	RASL12_ENST00000434605.2_Missense_Mutation_p.D39N|RASL12_ENST00000421977.3_Intron	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	50					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AAGTTGGGGTCATATTCACTG	0.572000													8	20					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816792	23816792	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:23816792G>A	ENST00000354772.3	-	8	1596	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	SLC22A17_ENST00000397260.3_Missense_Mutation_p.R254W|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R365W|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R365W	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	365					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGATGCCCCGGCGGCCAAAT	0.632000													24	62					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798757	241798757	+	Silent	SNP	G	G	A	rs113330678		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:241798757G>A	ENST00000366553.1	-	1	475	c.312C>T	c.(310-312)taC>taT	p.Y104Y	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	104					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.Y104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTGACTGGCGTAGCAAAAAG	0.438000													116	342					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85469990	85469990	+	Silent	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:85469990C>G	ENST00000369663.5	-	3	919	c.582G>C	c.(580-582)gtG>gtC	p.V194V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.V36V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	194					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTTTGTTGTCCACTGGTACAA	0.388000													11	69					0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28512309	28512309	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:28512309G>A	ENST00000247026.5	+	7	1357	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	432					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						tgaaaataatgataaatacag	0.378000													10	34					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	711778	711778	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:711778C>T	ENST00000549091.1	+	31	3947	c.3855C>T	c.(3853-3855)atC>atT	p.I1285I	WDR90_ENST00000293879.4_Silent_p.I1285I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1285										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCAGACATCAGCCTTCAGG	0.647000													32	101					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104064480	104064480	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:104064480G>C	ENST00000388887.2	+	22	2470	c.2266G>C	c.(2266-2268)Gat>Cat	p.D756H		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	756	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGTGTGCAGATAGCCTCGG	0.502000													11	28					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61447483	61447483	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:61447483C>T	ENST00000398571.2	-	67	8085	c.8009G>A	c.(8008-8010)cGg>cAg	p.R2670Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAAAGAAACCGCTCGACCCA	0.378000													103	383					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30096553	30096553	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:30096553C>G	ENST00000380752.5	-	8	1476	c.1090G>C	c.(1090-1092)Gcc>Ccc	p.A364P		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	364					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAGCCATGGCATAGATAACC	0.498000													30	150					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309988	154309988	+	Silent	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:154309988C>A	ENST00000368489.3	+	12	1101	c.1101C>A	c.(1099-1101)ctC>ctA	p.L367L	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.L353L|ATP8B2_ENST00000368487.3_Silent_p.L334L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	353					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCATCATCCTCAACACCGTTG	0.532000													117	403					1.39264e-60	1.55488e-60	1	1	0
CPM	1368	broad.mit.edu	37	12	69250400	69250400	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:69250400C>T	ENST00000551568.1	-	9	1209	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	CPM_ENST00000546373.1_Silent_p.Q383Q|CPM_ENST00000338356.3_Silent_p.Q383Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	383					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CACTGAAGTTCTGGGATTTCT	0.393000													32	124					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			19	53					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261196	62261196	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:62261196C>G	ENST00000416284.3	-	2	1595	c.11G>C	c.(10-12)aGa>aCa	p.R4T	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4T|FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4T	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	4						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTGTAAGTATCTCTTACTCAT	0.313000													23	113					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24727123	24727123	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:24727123G>A	ENST00000396475.2	+	13	1812	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	MPP6_ENST00000222644.4_Missense_Mutation_p.D505N|MPP6_ENST00000409761.1_Missense_Mutation_p.D393N	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	505	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CCACTATTTTGATTTGATCAT	0.378000													46	186					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333247	333247	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:333247G>A	ENST00000343164.4	-	11	1274	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	SLC6A13_ENST00000445055.2_Missense_Mutation_p.H316Y|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	408					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.H408N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGGAACACGTGAGGGTACATG	0.562000													25	61					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34806864	34806864	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:34806864G>A	ENST00000338074.2	+	18	2496	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	EPB41L1_ENST00000373950.2_Missense_Mutation_p.E670K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E599K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E677K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E677K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E778K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	779	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGTGGCCACGGAAATCCGTTC	0.582000													10	38					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576900	138576900	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:138576900G>A	ENST00000251691.4	+	10	1264	c.1098G>A	c.(1096-1098)atG>atA	p.M366I		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	366					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCAAAATAATGAAAGAGGTGA	0.572000													5	8					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102046500	102046500	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:102046500G>C	ENST00000549145.1	+	16	1635	c.1535G>C	c.(1534-1536)gGt>gCt	p.G512A	MYBPC1_ENST00000551300.1_Missense_Mutation_p.G400A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G485A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G473A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G487A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G480A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G486A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	499	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAAGATGAAGGTGATTATGTA	0.358000													54	199					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124975615	124975615	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:124975615C>T	ENST00000522917.1	+	3	380	c.174C>T	c.(172-174)gtC>gtT	p.V58V	FER1L6_ENST00000399018.1_Silent_p.V58V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	58						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTTCCTGTCCCCTCAGCTT	0.507000													111	123					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783452	115783452	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:115783452G>A	ENST00000343348.6	-	19	2737	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	SEMA6A_ENST00000257414.8_Silent_p.L667L|SEMA6A_ENST00000282394.6_Silent_p.L127L|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.L650L|SEMA6A_ENST00000513137.1_Silent_p.L77L|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.L29L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	650					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAATGGCCAAGAGGGTGACGG	0.552000													5	29					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730193	53730193	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:53730193G>A	ENST00000262135.4	-	3	193	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R34W	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	34					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCATTGTCCGTGTTGTTGAA	0.373000													65	230					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42825779	42825779	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:42825779C>T	ENST00000372970.2	-	6	972	c.792G>A	c.(790-792)gtG>gtA	p.V264V	OSER1_ENST00000255174.2_Silent_p.V264V					oxidative stress responsive serine-rich 1																		CCTCAATGGTCACATCATCCA	0.488000													30	159					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127414362	127414362	+	Silent	SNP	C	C	T	rs150180630	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:127414362C>T	ENST00000337623.3	+	6	852	c.747C>T	c.(745-747)ttC>ttT	p.F249F	C10orf137_ENST00000356792.4_Silent_p.F249F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCTCCCTTCGAAATGCCTT	0.463000													21	76					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967190	106967190	+	RNA	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:106967190G>A	ENST00000390622.2	-	0	513																											CACTAGGGTTGATTATTCCCA	0.542000													44	164					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342265	3342265	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:3342265G>A	ENST00000378398.3	+	14	3142	c.3060G>A	c.(3058-3060)caG>caA	p.Q1020Q	PRDM16_ENST00000511072.1_Silent_p.Q1021Q|PRDM16_ENST00000442529.2_Silent_p.Q1019Q|PRDM16_ENST00000441472.2_Silent_p.Q1019Q|PRDM16_ENST00000514189.1_Silent_p.Q1020Q|PRDM16_ENST00000378391.2_Silent_p.Q1020Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.Q1020Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1020	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCGGGCAGCAGACCAACCTGG	0.647000			T	EVI1	"""MDS, AML"""								24	104					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18745214	18745214	+	Missense_Mutation	SNP	C	C	T	rs140939592	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:18745214C>T	ENST00000304081.4	-	9	1601	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E561K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E561K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E561K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAAGAGCTTCGTCTATCTCT	0.537000													38	118					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:111385713G>C	ENST00000529167.1	+	1	204	c.204G>C	c.(202-204)cgG>cgC	p.R68R	C11orf88_ENST00000375618.4_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R|RP11-794P6.6_ENST00000530283.1_RNA			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	70					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150028028	150028028	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:150028028G>A	ENST00000343855.4	+	1	1091	c.535G>A	c.(535-537)Gag>Aag	p.E179K	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GCTGGCCTCTGAGAGAAGCGG	0.627000													7	54					0	0	1	0	0
VN1R1	57191	broad.mit.edu	37	19	57966870	57966870	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:57966870C>T	ENST00000321039.3	-	1	984	c.985G>A	c.(985-987)Gat>Aat	p.D329N	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	329					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATATGAGTATCACTCATGATG	0.463000													30	99					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734390	47734390	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:47734390G>A	ENST00000371828.3	-	11	1695	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	STAU1_ENST00000360426.4_Missense_Mutation_p.S397L|STAU1_ENST00000371792.1_Missense_Mutation_p.S395L|STAU1_ENST00000371802.1_Missense_Mutation_p.S403L|STAU1_ENST00000347458.5_Missense_Mutation_p.S397L|STAU1_ENST00000340954.7_Missense_Mutation_p.S397L|STAU1_ENST00000371856.2_Missense_Mutation_p.S478L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	478						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TACGTGGCCTGAAGAGATGTT	0.537000													24	93					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599315	116599315	+	Silent	SNP	A	A	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:116599315A>C	ENST00000395715.3	-	5	3190	c.2613T>G	c.(2611-2613)gcT>gcG	p.A871A	TRPS1_ENST00000520276.1_Silent_p.A862A|TRPS1_ENST00000519674.1_Silent_p.A858A|TRPS1_ENST00000220888.5_Silent_p.A858A|TRPS1_ENST00000519076.1_Silent_p.A612A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	858					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)			TCTCTCCGCCAGCTGGCGCCC	0.577000									Langer-Giedion syndrome				4	141					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74085376	74085376	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:74085376C>T	ENST00000607838.1	-	9	1090	c.996G>A	c.(994-996)gaG>gaA	p.E332E	EXOC7_ENST00000411744.2_Silent_p.E301E|EXOC7_ENST00000335146.7_Silent_p.E360E|EXOC7_ENST00000332065.5_Silent_p.E278E|EXOC7_ENST00000405575.4_Silent_p.E332E|EXOC7_ENST00000589210.1_Silent_p.E309E|EXOC7_ENST00000467929.2_Silent_p.E268E	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	360					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGCATCGGTCTCCACGTCCA	0.637000													18	45					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930223	121930223	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:121930223G>A	ENST00000265922.3	-	8	1886	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		475					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCTCAAAGCTGATGAACTGCT	0.572000													16	53					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11545748	11545748	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:11545748C>T	ENST00000356392.4	-	1	177	c.90G>A	c.(88-90)agG>agA	p.R30R	CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000591179.1_Silent_p.R30R|CCDC151_ENST00000586836.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	30										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCGAAGCCTCCCTGCCCTTGA	0.667000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	97					0	0	1	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979810	12979810	+	Silent	SNP	C	C	T	rs144939857		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:12979810C>T	ENST00000361079.2	+	4	1085	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCATTTCAGCCCTGAGC	0.577000													49	269					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													6	39					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753466	45753466	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:45753466G>T	ENST00000297323.7	+	20	3254	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1078					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGTCCATTTGGGAGAGCTGG	0.602000													30	111					1.74807e-11	1.88759e-11	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140165886	140165886	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:140165886C>A	ENST00000504120.2	+	1	11	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S4Y|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S4Y	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGTTTTCTAGGAGAGGG	0.502000													47	225					2.76378e-25	3.05611e-25	1	1	0
NRD1	4898	broad.mit.edu	37	1	52280475	52280475	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:52280475G>C	ENST00000354831.7	-	14	1843	c.1654C>G	c.(1654-1656)Ctt>Gtt	p.L552V	NRD1_ENST00000352171.7_Missense_Mutation_p.L484V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.L352V|NRD1_ENST00000539524.1_Missense_Mutation_p.L420V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	483					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AACAGTGCAAGAGCCCAGCAT	0.378000													11	54					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976423	30976423	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:30976423G>A	ENST00000262519.8	+	7	2046	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	454	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCTGAGAGAGAAGAAGTTCG	0.697000													11	41					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219562684	219562684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:219562684C>T	ENST00000295709.3	+	25	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_ENST00000440309.1_Missense_Mutation_p.A1006V|STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1006					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGTGTCTTGGCCGACCTCAGG	0.547000													4	172					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124072998	124072998	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:124072998C>T	ENST00000373823.3	+	12	1293	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000449733.1_Missense_Mutation_p.P130S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373818.4_Missense_Mutation_p.P181S			P06396	GELS_HUMAN	gelsolin	181	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCACGTGGTACCCAACGAGGT	0.577000													18	74					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53680494	53680494	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:53680494C>T	ENST00000257934.4	+	18	4065	c.3974C>T	c.(3973-3975)tCt>tTt	p.S1325F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1325F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1325					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAGTTAGCCTCTGCTCCCCTG	0.562000													16	49					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	76					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57254662	57254662	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:57254662G>A	ENST00000343433.6	-	3	983	c.903C>T	c.(901-903)ccC>ccT	p.P301P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	301										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCTGAGTCTTGGGAACAGCAG	0.602000													38	158					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70513582	70513582	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:70513582G>A	ENST00000288078.6	+	24	3486	c.3254G>A	c.(3253-3255)tGa>tAa	p.*1085*	FUK_ENST00000571514.1_Silent_p.*576*|FUK_ENST00000378912.2_Silent_p.*1091*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	0						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTTTCCCATGAAGCTGGCTT	0.592000													13	45					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434325	49434325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:49434325G>A	ENST00000301067.7	-	31	7227	c.7228C>T	c.(7228-7230)Cga>Tga	p.R2410*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2140*(1)									GCAGGCACTCGGGAGAAAGGG	0.647000													8	41					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745733	23745733	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:23745733C>T	ENST00000357460.5	-	2	868	c.704G>A	c.(703-705)aGg>aAg	p.R235K	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R237K|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R237K	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTTGGGACCCCTGCCTGCCTG	0.542000													37	105					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336011	141336011	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:141336011G>A	ENST00000231484.3	-	1	2616	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	469	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCCCGCGTGGAGACTTC	0.478000													35	143					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633144	106633144	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:106633144C>T	ENST00000378026.4	-	2	1603	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	489						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACTCCTCTTCAGCTCCTCCA	0.662000													32	89					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629897	1629897	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr20:1629897G>A	ENST00000381580.1	-	2	311	c.132C>T	c.(130-132)atC>atT	p.I44I	SIRPG_ENST00000344103.4_Silent_p.I77I|SIRPG_ENST00000216927.4_Silent_p.I77I|SIRPG_ENST00000381583.2_Silent_p.I77I|SIRPG_ENST00000303415.3_Silent_p.I77I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	77	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGATTGTAGATTAATTCCC	0.517000													44	146					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872434	57872434	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:57872434C>G	ENST00000393797.2	-	6	828	c.636G>C	c.(634-636)agG>agC	p.R212S	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R141S|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R220S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	141					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTGACGCTCCTACACATTT	0.577000													38	158					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283757	63283757	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:63283757G>A	ENST00000415491.2	+	8	1334	c.720G>A	c.(718-720)gcG>gcA	p.A240A	LGALS12_ENST00000425950.2_Silent_p.A231A|LGALS12_ENST00000394618.3_Silent_p.A301A|LGALS12_ENST00000255684.5_Silent_p.A292A|LGALS12_ENST00000340246.5_Silent_p.A302A	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	301	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TGAAGCTGGCGCTCAATGGGC	0.632000													19	50					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955829	37955829	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:37955829G>T	ENST00000436072.2	-	1	688	c.311C>A	c.(310-312)gCg>gAg	p.A104E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	104	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A104V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTCGTCGCGCGCGCGTTGGCA	0.627000													17	46					6.94344e-10	7.46258e-10	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161524718	161524718	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:161524718C>T	ENST00000356592.3	+	4	862	c.402C>T	c.(400-402)gtC>gtT	p.V134V	GABRG2_ENST00000361925.4_Silent_p.V134V|GABRG2_ENST00000414552.2_Silent_p.V134V|GABRG2_ENST00000393933.4_Silent_p.V39V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	134					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATTAAAGTCCTCCGATTGA	0.378000													30	128					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983140	7983140	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:7983140C>T	ENST00000319144.4	-	7	1134	c.874G>A	c.(874-876)Gac>Aac	p.D292N	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	292	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCACCATGTCGTCTGTGACG	0.677000										Multiple Myeloma(8;0.094)			13	35					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	411					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438000													36	242					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670229	95670229	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:95670229G>A	ENST00000298912.4	-	9	1570	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	486						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GACCTTGTCAGAGGAGGATTC	0.468000													25	50					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018491	88018491	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:88018491C>T	ENST00000504921.2	-	10	2024	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	MEF2C_ENST00000340208.5_Missense_Mutation_p.R461K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.R419K|MEF2C_ENST00000539796.1_Missense_Mutation_p.R395K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000437473.2_Missense_Mutation_p.R451K|MEF2C_ENST00000510942.1_Missense_Mutation_p.R443K|MEF2C_ENST00000508569.1_Missense_Mutation_p.R411K|MEF2C_ENST00000514028.1_Missense_Mutation_p.R451K|MEF2C_ENST00000424173.2_Missense_Mutation_p.R441K			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	451					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGGCGAAGGTCTGGTGAGTCC	0.498000										HNSCC(66;0.2)			66	251					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98311125	98311125	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr10:98311125C>G	ENST00000371142.4	-	7	1052	c.836G>C	c.(835-837)gGa>gCa	p.G279A	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	279						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AAATACATCTCCATGCACCTG	0.353000													34	157					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	12					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754382	167754382	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr6:167754382C>T	ENST00000239587.5	+	3	1082	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	332	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTCCTACCTTCGTAGCTGGGA	0.463000													81	256					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985741	36985741	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:36985741A>G	ENST00000282516.8	+	10	2958	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	NIPBL_ENST00000448238.2_Missense_Mutation_p.N820S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	820					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GACCATGATAATAAACAAAAA	0.438000													6	129					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155256201	155256201	+	Silent	SNP	C	C	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:155256201C>T	ENST00000357232.3	-	8	1034	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	DCHS2_ENST00000339452.1_Silent_p.L844L|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	345	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGAGACCATCAACGAAAGTG	0.408000													25	90					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068023	5068023	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:5068023G>C	ENST00000380370.1	+	1	268	c.268G>C	c.(268-270)Gat>Cat	p.D90H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTGGTTTGATGCTCACGA	0.498000													19	112					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765212	141765212	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr7:141765212G>C	ENST00000475668.2	+	38	4616	c.4562G>C	c.(4561-4563)gGa>gCa	p.G1521A	MGAM_ENST00000549489.2_Missense_Mutation_p.G1521A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1521	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGCTGGGCAGGACATTGGCTG	0.622000													4	11					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95906119	95906119	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr14:95906119C>A	ENST00000334258.5	-	12	2090	c.2076G>T	c.(2074-2076)agG>agT	p.R692S	SYNE3_ENST00000554873.1_Missense_Mutation_p.R449S|SYNE3_ENST00000557275.1_Missense_Mutation_p.R692S	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTGCCACCAGCCTCTAAAGGA	0.607000													24	63					3.01185e-09	3.20706e-09	1	1	0
TUBB4A	10382	broad.mit.edu	37	19	6501305	6501305	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:6501305G>C	ENST00000264071.2	-	3	641	c.270C>G	c.(268-270)ttC>ttG	p.F90L	TUBB4A_ENST00000598006.1_Missense_Mutation_p.S76W|TUBB4A_ENST00000596926.1_Missense_Mutation_p.F90L|TUBB4A_ENST00000601152.1_Missense_Mutation_p.S65W|TUBB4A_ENST00000540257.1_Missense_Mutation_p.F90L			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	90					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CACCAAACACGAAGTTGTCCG	0.592000													11	57					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800883	67800883	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr13:67800883C>A	ENST00000544246.1	-	2	2381	c.1690G>T	c.(1690-1692)Gat>Tat	p.D564Y	PCDH9_ENST00000328454.5_Missense_Mutation_p.D564Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D564Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D564Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.D564Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	564	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATTCTCATCCAGAACAGTA	0.428000													33	155					1.74807e-11	1.88759e-11	1	1	0
AMOTL2	51421	broad.mit.edu	37	3	134086483	134086483	+	Silent	SNP	G	G	A			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:134086483G>A	ENST00000514516.1	-	3	1249	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	AMOTL2_ENST00000249883.5_Silent_p.A299A|AMOTL2_ENST00000422605.2_Silent_p.A299A|AMOTL2_ENST00000513145.1_Silent_p.A299A	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	299										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGGAGGCCTGGGCACTCACTG	0.667000													27	88					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379752	145379752	+	Silent	SNP	C	C	T	rs137960488		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:145379752C>T	ENST00000511217.1	+	2	562	c.510C>T	c.(508-510)atC>atT	p.I170I	SH3RF2_ENST00000359120.4_Silent_p.I170I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	170	SH3 1.						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)			TCAATGGCATCAGCGGGAACT	0.567000													19	81					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96691104	96691104	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr12:96691104C>G	ENST00000261211.3	-	9	1420	c.817G>C	c.(817-819)Gac>Cac	p.D273H	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000543119.2_Missense_Mutation_p.D273H|CDK17_ENST00000542666.1_Missense_Mutation_p.D220H	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	273	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGTTTCAGGTCTTTATCCTGG	0.338000													9	67					0	0	1	0	0
COX11	1353	broad.mit.edu	37	17	53040725	53040725	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr17:53040725C>G	ENST00000299335.3	-	3	728	c.590G>C	c.(589-591)gGa>gCa	p.G197A	COX11_ENST00000571584.1_Missense_Mutation_p.G197A	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	197					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TGTAGAAATTCCAATTACTGG	0.323000													26	94					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903944	21903944	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:21903944G>T	ENST00000374840.3	+	12	1628	c.1378G>T	c.(1378-1380)Gcc>Tcc	p.A460S	ALPL_ENST00000374832.1_Missense_Mutation_p.A460S|ALPL_ENST00000425315.2_Missense_Mutation_p.A460S|ALPL_ENST00000374829.1_Missense_Mutation_p.A106S|ALPL_ENST00000374830.1_Missense_Mutation_p.A106S|ALPL_ENST00000540617.1_Missense_Mutation_p.A405S|ALPL_ENST00000539907.1_Missense_Mutation_p.A383S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	460					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGAGGACGTGGCCGTCTTCTC	0.667000													7	66					2.7689e-08	2.93477e-08	1	1	0
USH2A	7399	broad.mit.edu	37	1	215848871	215848872	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr1:215848871_215848872delAG	ENST00000366943.2	-	63	12767_12768	c.12381_12382delCT	c.(12379-12384)ctacfs	p.LY4127fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.LY4127fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4127	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGTGTGTAGAGAGTGAAAG	0.559										HNSCC(13;0.011)			15	41	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32641134	32641153	+	Frame_Shift_Del	DEL	AGTGGAGCCTCCCAAAAAGG	AGTGGAGCCTCCCAAAAAGG	-			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:32641134_32641153delAGTGGAGCCTCCCAAAAAGG	ENST00000421745.2	+	10	2909_2928	c.2775_2794delAGTGGAGCCTCCCAAAAAGG	c.(2773-2796)aaagfs	p.KVEPPKKE925fs		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	925					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGA	0.414													18	140	---	---	---	---					
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	-	T	rs77057279	by1000genomes	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr2:96525717_96525718insT	ENST00000456556.1	-	61	3871_3872	c.3787_3788insA	c.(3787-3789)gaafs	p.E1263fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282													2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													8	32	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	-	CA	rs71299249		TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr4:1389054_1389055insCA	ENST00000324803.4	+	1	3715_3716	c.755_756insCA	c.(754-756)cacfs	p.H252fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	252					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.C254fs*176(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCGAT	0.693													12	238	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													14	113	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316387	12316389	+	In_Frame_Del	DEL	CTA	CTA	-	rs3812754	byFrequency	TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr11:12316387_12316389delCTA	ENST00000256186.2	+	3	1700_1702	c.1409_1411delCTA	c.(1408-1413)cca>c	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctACAGCGGGAGG	0.576													24	7	---	---	---	---					
ZNF319	57567	broad.mit.edu	37	16	58031982	58031982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr16:58031982delG	ENST00000299237.2	-	2	810	c.188delC	c.(187-189)cafs	p.P63fs		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TGCGTGTTGTGGGGGCTGCAG	0.687													20	62	---	---	---	---					
ERF	2077	broad.mit.edu	37	19	42753731	42753732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5558-01A-01D-1512-08	TCGA-BA-5558-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a47fa4-c857-4483-9572-07012c10e9d5	f7632fc3-3c2c-424e-84a7-51bea026ebf5	g.chr19:42753731_42753732insC	ENST00000222329.4	-	4	689_690	c.532_533insG	c.(532-534)ccgfs	p.P178fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Ins_p.P103fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	178					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGGCGGCGGGCCACCACAGCC	0.678													8	94	---	---	---	---					
