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
IMPG1	3617	broad.mit.edu	37	6	76728571	76728571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:76728571C>T	ENST00000369950.3	-	7	860	c.671G>A	c.(670-672)aGa>aAa	p.R224K	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	224					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCTGTTTCTCTTTCCTGAGT	0.413000													15	3					0	0	0.038395	0	0
PTPRK	5796	broad.mit.edu	37	6	128304508	128304508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:128304508C>T	ENST00000368227.3	-	24	3683	c.3317G>A	c.(3316-3318)cGa>cAa	p.R1106Q	PTPRK_ENST00000532331.1_Missense_Mutation_p.R1111Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1095Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1121Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1107Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1088Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1089Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1088	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCAGCCAGTTCGTCCAGCACC	0.383000													14	3					0	0	0.146539	0	0
MARK3	4140	broad.mit.edu	37	14	103871440	103871440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:103871440G>A	ENST00000429436.2	+	2	589	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	MARK3_ENST00000416682.2_Missense_Mutation_p.E27K|MARK3_ENST00000335102.5_Missense_Mutation_p.E27K|MARK3_ENST00000303622.9_Missense_Mutation_p.E27K|MARK3_ENST00000216288.7_Missense_Mutation_p.E27K|MARK3_ENST00000553942.1_Missense_Mutation_p.E27K|MARK3_ENST00000440884.3_Missense_Mutation_p.E27K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	27							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGGGCGTCAAGAAGTTACCTC	0.463000													19	27					0	0	0.043863	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	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													6	71					0	0	0.021553	0	0
KIT	3815	broad.mit.edu	37	4	55564559	55564559	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:55564559G>A	ENST00000288135.5	+	3	544	c.447G>A	c.(445-447)aaG>aaA	p.K149K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	149	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCCTCAAGGGGTGCCAGG	0.532000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				19	24					0	0	0.055883	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319189	43319189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:43319189G>A	ENST00000321925.4	+	7	957	c.725G>A	c.(724-726)gGg>gAg	p.G242E	SLC14A1_ENST00000586142.1_Missense_Mutation_p.G242E|SLC14A1_ENST00000436407.3_Missense_Mutation_p.G298E|SLC14A1_ENST00000502059.2_Missense_Mutation_p.G134E|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000402943.2_Missense_Mutation_p.G137E|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.G298E|SLC14A1_ENST00000535474.1_Missense_Mutation_p.G110E	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	242						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCATGGACAGGGGGCATTTTC	0.483000													36	33					0	0	0.086207	0	0
BIN2	51411	broad.mit.edu	37	12	51707644	51707644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:51707644C>T	ENST00000267012.4	-	2	186	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	BIN2_ENST00000604560.1_Intron|BIN2_ENST00000452142.2_Missense_Mutation_p.R42Q|BIN2_ENST00000544402.1_Missense_Mutation_p.R16Q	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	42	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGTTCAAATCGTTCATCTTT	0.463000													31	62					0	0	0.064281	0	0
NLRP9	338321	broad.mit.edu	37	19	56244384	56244384	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:56244384G>A	ENST00000332836.2	-	2	840	c.813C>T	c.(811-813)ctC>ctT	p.L271L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	271	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATGCAATAAGGAGAGAGGATT	0.408000													21	28					0	0	0.055883	0	0
SATB2	23314	broad.mit.edu	37	2	200213622	200213622	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:200213622C>T	ENST00000443023.1	-	6	2263	c.798G>A	c.(796-798)cgG>cgA	p.R266R	SATB2_ENST00000428695.1_Silent_p.R207R|SATB2_ENST00000260926.5_Silent_p.R325R|SATB2_ENST00000457245.1_Silent_p.R325R|SATB2_ENST00000417098.1_Silent_p.R325R			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	325						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGCCAGGAGCCGGCTAACGG	0.532000													20	112					0	0	0.069288	0	0
FMN1	342184	broad.mit.edu	37	15	33359296	33359296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:33359296C>T	ENST00000334528.9	-	1	789	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E264K|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	389	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCAGAGACTTCTTTTTTAGAA	0.512000													45	57					0	0	0.139131	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405797	106405797	+	RNA	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:106405797G>A	ENST00000390593.2	-	0	228																											GGGACTGCCTGATCCAGTTCC	0.527000													38	61					0	0	0.104719	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015417	21015417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:21015417G>A	ENST00000381545.3	+	7	772	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E185K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E185K|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E185K|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	185					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGCATAGGGGAAACCCCCAT	0.373000													27	38					0	0	0.134883	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	70					0	0	0.009096	0	0
KDM6B	23135	broad.mit.edu	37	17	7752119	7752119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:7752119C>T	ENST00000254846.5	+	11	2902	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F	KDM6B_ENST00000448097.2_Missense_Mutation_p.S838F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	838	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACTCAGTATTCCCCTGGCCCC	0.647000													45	59					0	0	0.139131	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965160	119965160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:119965160G>A	ENST00000543831.1	+	4	1285	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E346K	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	346					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTACAGCTGGGAGGAAGCCAA	0.507000													32	31					0	0	0.045705	0	0
USP6	9098	broad.mit.edu	37	17	5049436	5049436	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:5049436C>T	ENST00000574788.1	+	28	4516	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	USP6_ENST00000332776.4_Silent_p.I762I|USP6_ENST00000250066.6_Silent_p.I762I|USP6_ENST00000304328.5_Silent_p.I445I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	762					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAACAAATCCTACTAGCAG	0.348000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								40	75					0	0	0.117977	0	0
CACNA1C	775	broad.mit.edu	37	12	2666141	2666141	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:2666141C>T	ENST00000399655.1	+	11	1771	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CACNA1C_ENST00000399603.1_Silent_p.F502F|CACNA1C_ENST00000399638.1_Silent_p.F502F|CACNA1C_ENST00000402845.3_Silent_p.F502F|CACNA1C_ENST00000399641.1_Silent_p.F502F|CACNA1C_ENST00000399601.1_Silent_p.F502F|CACNA1C_ENST00000399597.1_Silent_p.F502F|CACNA1C_ENST00000347598.4_Silent_p.F502F|CACNA1C_ENST00000335762.5_Silent_p.F527F|CACNA1C_ENST00000399621.1_Silent_p.F502F|CACNA1C_ENST00000344100.3_Silent_p.F502F|CACNA1C_ENST00000399591.1_Silent_p.F502F|CACNA1C_ENST00000399649.1_Silent_p.F502F|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399629.1_Silent_p.F502F|CACNA1C_ENST00000406454.3_Silent_p.F502F|CACNA1C_ENST00000399644.1_Silent_p.F502F|CACNA1C_ENST00000399617.1_Silent_p.F502F|CACNA1C_ENST00000327702.7_Silent_p.F502F|CACNA1C_ENST00000399595.1_Silent_p.F502F|CACNA1C_ENST00000399606.1_Silent_p.F502F|CACNA1C_ENST00000399634.1_Silent_p.F502F|CACNA1C_ENST00000480911.1_Silent_p.F502F|CACNA1C_ENST00000399637.1_Silent_p.F502F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	502					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGTCAAAGTTCAGGTGAGTGA	0.498000													18	28					0	0	0.043863	0	0
PEX12	5193	broad.mit.edu	37	17	33904985	33904985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:33904985G>A	ENST00000225873.4	-	1	663	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	19					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCAAAGATGGATGGCTGGTC	0.493000													32	40					0	0	0.045705	0	0
CNTLN	54875	broad.mit.edu	37	9	17135129	17135129	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:17135129C>T	ENST00000380647.3	+	1	150	c.66C>T	c.(64-66)tcC>tcT	p.S22S	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Silent_p.S22S|CNTLN_ENST00000380641.4_Silent_p.S22S|CNTLN_ENST00000262360.5_Silent_p.S22S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	22						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCCCCAGGTCCCCACGTGTTG	0.677000													22	29					0	0	0.083992	0	0
MROH5	389690	broad.mit.edu	37	8	142498693	142498693	+	RNA	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:142498693G>A	ENST00000430863.1	-	0	788					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CTTCCTGGCTGAAGAGCTCCT	0.632000													20	25					0	0	0.091800	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501839	140501839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140501839G>A	ENST00000194152.1	+	1	259	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTGAGGGAGAAACTAGA	0.522000													26	36					0	0	0.091800	0	0
FLRT1	23769	broad.mit.edu	37	11	63884759	63884759	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:63884759G>A	ENST00000246841.3	+	2	2063	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	312	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TGTGGCTGCGGGACTGGGTGA	0.662000													13	34					0	0	0.105934	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370413	86370413	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:86370413C>T	ENST00000400286.2	-	2	829	c.231G>A	c.(229-231)acG>acA	p.T77T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	77						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTGAAGCATCGTCAAGCCGT	0.368000													54	119					0	0	0.139131	0	0
FAM181A	90050	broad.mit.edu	37	14	94394732	94394732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:94394732C>T	ENST00000267594.5	+	3	594	c.287C>T	c.(286-288)tCc>tTc	p.S96F	FAM181A_ENST00000556222.1_Missense_Mutation_p.S34F|FAM181A_ENST00000557000.2_Missense_Mutation_p.S34F|FAM181A_ENST00000557719.1_Missense_Mutation_p.S34F	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	96										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCGCCGCTCCGTGGACCAT	0.612000													19	22					0	0	0.049695	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353909	45353909	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:45353909C>T	ENST00000359271.2	+	2	484	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	78						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCAAGCCATCCTCGGGAGCA	0.662000													22	43					0	0	0.099896	0	0
ATP2A1	487	broad.mit.edu	37	16	28913196	28913196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:28913196G>A	ENST00000395503.4	+	16	2297	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V580I|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V705I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	705					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGGTGATGGCGTCAATGACGC	0.537000													13	9					0	0	0.093190	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557548	36557548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:36557548C>T	ENST00000373178.4	+	4	584	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	185						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CACGCCTCCTCCCTGGGTTAC	0.637000													21	39					0	0	0.076483	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:46066470C>T	ENST00000295452.4	-	5	780	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000													42	50					0	0	0.139131	0	0
DAB2	1601	broad.mit.edu	37	5	39383036	39383036	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:39383036T>A	ENST00000545653.1	-	9	1492	c.962A>T	c.(961-963)tAc>tTc	p.Y321F	DAB2_ENST00000509337.1_Missense_Mutation_p.Y321F|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.Y342F	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	342					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)			CTGACCAAAGTAGTCAACATC	0.493000													28	40					0	0	0.125774	0	0
WRNIP1	56897	broad.mit.edu	37	6	2783732	2783732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:2783732G>A	ENST00000380769.4	+	5	1150	c.919G>A	c.(919-921)Gag>Aag	p.E307K	WRNIP1_ENST00000380771.4_Missense_Mutation_p.E502K|WRNIP1_ENST00000380773.4_Missense_Mutation_p.E527K|WRNIP1_ENST00000380764.1_Missense_Mutation_p.E143K			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	527					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TCGCATGCTCGAGGGAGGAGA	0.602000													16	41					0	0	0.038395	0	0
COL4A1	1282	broad.mit.edu	37	13	110850940	110850940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:110850940G>A	ENST00000375820.4	-	21	1280	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	COL4A1_ENST00000543140.1_Missense_Mutation_p.P387S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	387	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTTCACCAGGGAAGCCAGGG	0.572000													35	87					0	0	0.092188	0	0
TRPC6	7225	broad.mit.edu	37	11	101375367	101375367	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:101375367G>A	ENST00000344327.3	-	2	757	c.333C>T	c.(331-333)atC>atT	p.I111I	TRPC6_ENST00000348423.4_Silent_p.I111I|TRPC6_ENST00000532133.1_Silent_p.I111I|TRPC6_ENST00000360497.4_Silent_p.I111I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	111					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCACCACTGGGATGTTACCAT	0.478000													49	42					0	0	0.139131	0	0
IL12RB1	3594	broad.mit.edu	37	19	18193075	18193075	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:18193075C>T	ENST00000600835.1	-	4	428		c.e4-1		IL12RB1_ENST00000593993.1_Splice_Site|IL12RB1_ENST00000322153.6_Splice_Site|IL12RB1_ENST00000430026.2_Splice_Site			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GAGGCCGAGCCTGGAAGAGAT	0.552000													7	12					0	0	0.038147	0	0
DUSP27	92235	broad.mit.edu	37	1	167097626	167097626	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:167097626G>A	ENST00000361200.2	+	6	3424	c.3258G>A	c.(3256-3258)agG>agA	p.R1086R	DUSP27_ENST00000443333.1_Silent_p.R1086R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.R1086R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1086					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGCCAAGAGGAAGTTCACCC	0.522000													12	17					0	0	0.093190	0	0
JAZF1	221895	broad.mit.edu	37	7	28220173	28220173	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:28220173G>A	ENST00000283928.5	-	1	189	c.24C>T	c.(22-24)tcC>tcT	p.S8S	JAZF1-AS1_ENST00000455963.1_RNA|JAZF1-AS1_ENST00000436758.1_RNA	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	8					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGGAGAAGAAGGAGGCGGCGG	0.672000			T	SUZ12	endometrial stromal tumours								302	155					0	0	0.139131	0	0
RRP1	8568	broad.mit.edu	37	21	45213219	45213219	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr21:45213219C>T	ENST00000497547.1	+	4	411	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	98					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TCCTTCAGGCCTTCTGGCAGA	0.597000													47	125					0	0	0.139131	0	0
MUC17	140453	broad.mit.edu	37	7	100686262	100686262	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100686262C>T	ENST00000306151.4	+	3	11629	c.11565C>T	c.(11563-11565)ttC>ttT	p.F3855F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3855						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTTCATTCTCCATACCTG	0.473000													105	46					0	0	0.139131	0	0
ZNF827	152485	broad.mit.edu	37	4	146807227	146807227	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:146807227G>A	ENST00000508784.1	-	4	1577	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	ZNF827_ENST00000513320.1_Silent_p.L100L|ZNF827_ENST00000379448.4_Silent_p.L450L			Q17R98	ZN827_HUMAN	zinc finger protein 827	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AACGCATGTGGAGTTTCAGGC	0.552000													23	12					0	0	0.069288	0	0
VPS13D	55187	broad.mit.edu	37	1	12337851	12337851	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:12337851G>A	ENST00000358136.3	+	19	4336	c.4206G>A	c.(4204-4206)ttG>ttA	p.L1402L	VPS13D_ENST00000356315.4_Silent_p.L1402L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1402					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGACACTTGGGACAGATAT	0.428000													29	40					0	0	0.054565	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018182	103018182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:103018182G>A	ENST00000306312.3	-	18	2111	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	SLC26A5_ENST00000393729.1_Missense_Mutation_p.P580L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P585L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P619L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.P50L|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P617L|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P585L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P587L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	617	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CACTATTGGGGGATATTTTAC	0.403000													19	98					0	0	0.049695	0	0
NRG2	9542	broad.mit.edu	37	5	139231313	139231313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:139231313G>A	ENST00000541337.1	-	7	1679	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	NRG2_ENST00000289409.4_Missense_Mutation_p.P544S|NRG2_ENST00000289422.7_Missense_Mutation_p.P558S|NRG2_ENST00000545385.1_Missense_Mutation_p.P552S|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.P552S|NRG2_ENST00000361474.1_Missense_Mutation_p.P550S|NRG2_ENST00000340391.3_Missense_Mutation_p.P347S|NRG2_ENST00000394770.1_3'UTR	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	550					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACATGCTGGGCTGTTGCAT	0.627000													23	30					0	0	0.091800	0	0
MUC16	94025	broad.mit.edu	37	19	9084874	9084874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:9084874C>T	ENST00000397910.4	-	1	7144	c.6941G>A	c.(6940-6942)gGa>gAa	p.G2314E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2314	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						CCTTCTCTCTCCCAGTGTAAT	0.483000													15	13					0	0	0.119110	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512848	70512848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:70512848C>T	ENST00000503640.1	-	1	570	c.515G>A	c.(514-516)aGg>aAg	p.R172K	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R172K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R172K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R172K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	172					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGAGAAAACCTCAAGGAGTA	0.423000													22	20					0	0	0.062417	0	0
AMER3	205147	broad.mit.edu	37	2	131519903	131519903	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:131519903C>T	ENST00000423981.1	+	2	368	c.258C>T	c.(256-258)ttC>ttT	p.F86F	AMER3_ENST00000321420.4_Silent_p.F86F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GAGCCACCTTCAAACCGGTGC	0.652000													12	10					0	0	0.093190	0	0
TRPV2	51393	broad.mit.edu	37	17	16340149	16340149	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:16340149G>A	ENST00000338560.7	+	15	2640	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E	TRPV2_ENST00000577397.1_Silent_p.E317E	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	747					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGGAGGATGAGGATGGTGCCT	0.557000													30	69					0	0	0.064281	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968157	80968157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:80968157C>T	ENST00000334512.5	+	6	697	c.125C>T	c.(124-126)cCa>cTa	p.P42L		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	42					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGAGACCCACGGGCCTTC	0.617000													13	19					0	0	0.146539	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169606	42169606	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:42169606G>A	ENST00000373135.3	+	19	2289	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Silent_p.G787G|L3MBTL1_ENST00000427442.2_Silent_p.G787G|L3MBTL1_ENST00000373134.1_3'UTR	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGTATCTGGGAAGACTCTAG	0.567000													17	43					0	0	0.033300	0	0
ABCA7	10347	broad.mit.edu	37	19	1041569	1041569	+	Missense_Mutation	SNP	C	C	T	rs149348071		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:1041569C>T	ENST00000263094.6	+	3	358	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	ABCA7_ENST00000433129.1_Missense_Mutation_p.R43C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	43					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCTGTTCGCCACTCCCA	0.627000													28	34					0	0	0.144211	0	0
PITX1	5307	broad.mit.edu	37	5	134364509	134364509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:134364509C>T	ENST00000265340.7	-	3	1321	c.905G>A	c.(904-906)gGc>gAc	p.G302D	PITX1_ENST00000506438.1_Missense_Mutation_p.G302D	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	302						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGAGGCCGGGCCCTGCAGGCC	0.731000													5	14					0	0	0.014758	0	0
RBM47	54502	broad.mit.edu	37	4	40440476	40440476	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:40440476G>A	ENST00000319592.4	-	4	1144	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RBM47_ENST00000514014.1_Silent_p.C107C|RBM47_ENST00000295971.7_Silent_p.C145C|RBM47_ENST00000381793.2_Silent_p.C145C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.C145C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	145	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACGCTGCAGCACACGCCGA	0.632000													20	23					0	0	0.062417	0	0
DCDC1	341019	broad.mit.edu	37	11	30902757	30902757	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:30902757C>T	ENST00000597505.1	-	35	5171	c.5172G>A	c.(5170-5172)gaG>gaA	p.E1724E				P59894	DCDC1_HUMAN	doublecortin domain containing 1	230					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCATATCTCGCTCTATGTCGT	0.468000													25	38					0	0	0.099896	0	0
SLC35E2	9906	broad.mit.edu	37	1	1670360	1670360	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:1670360C>T	ENST00000355439.2	-	4	1219		c.e4+1		SLC35E2_ENST00000400924.1_Splice_Site|SLC35E2_ENST00000246421.4_Splice_Site	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2							integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGATTCTTTACCTCATCAGAC	0.468000													5	15					0	0	0.069234	0	0
ANK3	288	broad.mit.edu	37	10	61844949	61844949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:61844949C>T	ENST00000280772.1	-	31	4002	c.3811G>A	c.(3811-3813)Gat>Aat	p.D1271N	ANK3_ENST00000503366.1_Missense_Mutation_p.D1272N|ANK3_ENST00000373827.2_Missense_Mutation_p.D1265N|ANK3_ENST00000355288.2_Missense_Mutation_p.D405N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1271					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGACACAATCTTTTATAAAC	0.388000													16	19					0	0	0.146539	0	0
CTNNB1	1499	broad.mit.edu	37	3	41277853	41277853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:41277853C>T	ENST00000349496.5	+	12	2097	c.1817C>T	c.(1816-1818)cCc>cTc	p.P606L	CTNNB1_ENST00000405570.1_Missense_Mutation_p.P606L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P606L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P599L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P606L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	606					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTTTATTCTCCCATTGAAAAC	0.453000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				65	88					0	0	0.139131	0	0
MGAT4B	11282	broad.mit.edu	37	5	179225962	179225962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:179225962G>A	ENST00000337755.5	-	10	2240	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	MGAT4B_ENST00000292591.7_Missense_Mutation_p.R437C	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	437					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCGGAAGCGGATGAAGTCC	0.632000													20	54					0	0	0.062417	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325586	150325586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:150325586C>A	ENST00000328902.5	-	3	316	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	34							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCTTCTGTTCTTTCTCCCTT	0.527000													72	433					3.89499e-28	4.49341e-28	0.139131	1	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000													17	24					0	0	0.033300	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461454	76461454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:76461454G>A	ENST00000307431.8	+	5	878	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G169S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G165S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G141S|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	166	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAACCCCAAGGGCAGAATTGG	0.408000													43	56					0	0	0.098360	0	0
TRPC6	7225	broad.mit.edu	37	11	101342100	101342100	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:101342100C>G	ENST00000344327.3	-	9	2647	c.2223G>C	c.(2221-2223)gaG>gaC	p.E741D	TRPC6_ENST00000348423.4_Missense_Mutation_p.E625D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E663D|TRPC6_ENST00000360497.4_Missense_Mutation_p.E686D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	741					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAATTTCCACTCCACATCAG	0.438000													13	51					0	0	0.105934	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	46					0	0	0.009096	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483220	102483220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:102483220G>A	ENST00000360184.4	+	38	7896	c.7732G>A	c.(7732-7734)Gaa>Aaa	p.E2578K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2578	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGTCCGCCACGAAGCCCTCTT	0.622000													23	22					0	0	0.099896	0	0
EPS15	2060	broad.mit.edu	37	1	51869204	51869204	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:51869204C>T	ENST00000371733.3	-	17	1774	c.1677_splice	c.e17-1	p.A560_splice	EPS15_ENST00000371730.2_Splice_Site_p.A426_splice|EPS15_ENST00000396122.4_Splice_Site_p.A237_splice|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	560					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTACTTCTTGCCTACAAAATA	0.323000			T	MLL	ALL								17	38					0	0	0.038395	0	0
PDE8B	8622	broad.mit.edu	37	5	76646915	76646915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:76646915G>A	ENST00000264917.5	+	9	1088	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R301K|PDE8B_ENST00000333194.4_Missense_Mutation_p.R348K|PDE8B_ENST00000342343.4_Missense_Mutation_p.R328K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	348					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TACTATGCCAGACGGAAATCC	0.507000													142	218					0	0	0.139131	0	0
OVCH1	341350	broad.mit.edu	37	12	29640654	29640654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:29640654C>T	ENST00000318184.5	-	7	863	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	288	CUB 1.|Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tgataaaatccatcaactcag	0.423000													5	6					0	0	0.014758	0	0
APOL5	80831	broad.mit.edu	37	22	36113929	36113929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:36113929G>A	ENST00000249044.2	+	1	11	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	4					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGCCATGTGGCAAACAAGGA	0.373000													14	12					0	0	0.038395	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182355	47182355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:47182355C>T	ENST00000447411.1	-	3	372	c.166G>A	c.(166-168)Gga>Aga	p.G56R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G56R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	56					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCCAAAAATCCATTTGTCAGG	0.383000													20	48					0	0	0.062417	0	0
USP45	85015	broad.mit.edu	37	6	99893858	99893858	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:99893858G>C	ENST00000327681.6	-	14	2322	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.S597C|USP45_ENST00000392738.2_Missense_Mutation_p.S277C|USP45_ENST00000369233.2_Missense_Mutation_p.S549C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	597					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGGACTATAAGACCTCAAATG	0.353000													18	5					0	0	0.033300	0	0
CLVS1	157807	broad.mit.edu	37	8	62289202	62289202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:62289202C>T	ENST00000519846.1	+	4	966	c.494C>T	c.(493-495)tCa>tTa	p.S165L	CLVS1_ENST00000325897.4_Missense_Mutation_p.S165L|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	165	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATCCTGCTGTCATTGGAAGTC	0.448000													34	41					0	0	0.104719	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967158	39967158	+	Silent	SNP	G	G	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:39967158G>T	ENST00000355468.3	-	4	1210	c.744C>A	c.(742-744)gcC>gcA	p.A248A	LEPREL4_ENST00000393928.1_Silent_p.A248A			Q92791	SC65_HUMAN	leprecan-like 4	248					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCTGCTCATGGGCCCCTTCAC	0.642000													18	18					8.34094e-07	9.44423e-07	0.049695	1	0
GAD2	2572	broad.mit.edu	37	10	26534872	26534872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:26534872G>A	ENST00000376261.3	+	8	1366	c.863G>A	c.(862-864)gGa>gAa	p.G288E	GAD2_ENST00000259271.3_Missense_Mutation_p.G288E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	288					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTCAAGAAGGGAGCTGCAGCC	0.388000													5	15					0	0	0.021553	0	0
BCL11A	53335	broad.mit.edu	37	2	60688589	60688589	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:60688589C>T	ENST00000335712.6	-	4	1685	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E	BCL11A_ENST00000356842.4_Silent_p.E486E|BCL11A_ENST00000537768.1_Silent_p.E155E|BCL11A_ENST00000358510.4_Silent_p.E452E|BCL11A_ENST00000538214.1_Silent_p.E452E|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	486	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcctcttcctcctcgtccc	0.637000			T	IGH@	B-CLL								99	81					0	0	0.139131	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48517439	48517439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:48517439G>A	ENST00000339841.2	+	3	260	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	28	Fibronectin type-II 1.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATGCATGAGGAATGTGTCTT	0.463000													62	112					0	0	0.139131	0	0
IP6K3	117283	broad.mit.edu	37	6	33690685	33690685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:33690685G>A	ENST00000451316.1	-	7	1580	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	IP6K3_ENST00000293756.4_Missense_Mutation_p.P349S	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	349					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCTGCCTGGGGAGCCTCGTGA	0.557000													37	108					0	0	0.092188	0	0
INTS5	80789	broad.mit.edu	37	11	62415321	62415321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:62415321C>T	ENST00000330574.2	-	2	2283	c.2231G>A	c.(2230-2232)gGg>gAg	p.G744E		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	744					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGACCAAATCCCTCCAGGACC	0.527000													21	28					0	0	0.062417	0	0
HK2	3099	broad.mit.edu	37	2	75108959	75108959	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:75108959G>A	ENST00000290573.2	+	11	2292	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q	HK2_ENST00000409174.1_Silent_p.Q536Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	564	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCATCCCGCAGGAGGTCATGC	0.617000													14	22					0	0	0.105934	0	0
KLHL1	57626	broad.mit.edu	37	13	70281924	70281924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:70281924C>T	ENST00000377844.4	-	10	2779	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D481N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	674					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368000													34	17					0	0	0.064281	0	0
S1PR1	1901	broad.mit.edu	37	1	101705320	101705320	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:101705320C>T	ENST00000305352.6	+	2	1155	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCGTAATTATCGTCCTGAGCG	0.597000													63	62					0	0	0.139131	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175539	143175539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:143175539C>T	ENST00000408916.1	+	1	574	c.574C>T	c.(574-576)Cct>Tct	p.P192S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGGTCAATTCCTTTTTCTGT	0.403000													28	71					0	0	0.116897	0	0
CFI	3426	broad.mit.edu	37	4	110662237	110662237	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:110662237T>A	ENST00000394634.2	-	13	1771	c.1564A>T	c.(1564-1566)Aaa>Taa	p.K522*	CFI_ENST00000512148.1_Nonsense_Mutation_p.K515*|CFI_ENST00000394635.3_Nonsense_Mutation_p.K530*	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	522	Peptidase S1.		K -> T (in AHUS3).		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAGTCCCCTTTACAGGCATCG	0.453000													75	113					0	0	0.139131	0	0
OR14J1	442191	broad.mit.edu	37	6	29274491	29274491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:29274491G>A	ENST00000377160.2	+	1	89	c.25G>A	c.(25-27)Gga>Aga	p.G9R		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCAATGAGTGGATTCCTTCT	0.418000													44	115					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9063944	9063944	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:9063944C>T	ENST00000397910.4	-	3	23705	c.23502G>A	c.(23500-23502)agG>agA	p.R7834R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7836	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						CGCTGGACTCCCTCAATCCAG	0.547000													31	41					0	0	0.125774	0	0
MGAT4B	11282	broad.mit.edu	37	5	179225963	179225963	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:179225963G>A	ENST00000337755.5	-	10	2239	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	MGAT4B_ENST00000292591.7_Silent_p.I436I	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	436					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGAAGCGGATGAAGTCCC	0.632000													21	55					0	0	0.069288	0	0
KCNA10	3744	broad.mit.edu	37	1	111060906	111060906	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:111060906G>A	ENST00000369771.2	-	1	891	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	168						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGCTCATAGAAGGAGATTT	0.483000													30	30					0	0	0.125774	0	0
RB1CC1	9821	broad.mit.edu	37	8	53596543	53596543	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:53596543G>A	ENST00000025008.5	-	4	625	c.102C>T	c.(100-102)agC>agT	p.S34S	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.S34S|RB1CC1_ENST00000435644.2_Silent_p.S34S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	34					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTTGTATTTGCTTTGAATGG	0.403000													4	39					0	0	0.009096	0	0
NPY5R	4889	broad.mit.edu	37	4	164271957	164271957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:164271957C>T	ENST00000515560.1	+	4	2054	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	NPY5R_ENST00000506953.1_Missense_Mutation_p.H178Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.H178Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	178					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAGTGTTTCACAGTCTTGT	0.413000													92	101					0	0	0.139131	0	0
MAP6	4135	broad.mit.edu	37	11	75299108	75299108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:75299108C>T	ENST00000304771.3	-	4	2188	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	MAP6_ENST00000526689.1_5'UTR|MAP6_ENST00000526740.1_Missense_Mutation_p.E151K|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	480						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTCAGAGGCTCTTGCACCATA	0.517000													73	87					0	0	0.139131	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008975	56008975	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:56008975C>T	ENST00000456986.1	+	15	1560	c.960C>T	c.(958-960)atC>atT	p.I320I	NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000356462.6_Silent_p.I377I|NEDD4L_ENST00000357895.5_Silent_p.I433I|NEDD4L_ENST00000435432.2_Silent_p.I300I|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Silent_p.I413I|NEDD4L_ENST00000431212.2_Silent_p.I320I|NEDD4L_ENST00000382850.4_Silent_p.I421I|NEDD4L_ENST00000456173.2_Silent_p.I300I|NEDD4L_ENST00000256832.7_Silent_p.I300I|NEDD4L_ENST00000400345.3_Silent_p.I441I	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	441					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGCCTCAGATCCGCCGGCCTC	0.517000													6	5					0	0	0.021553	0	0
FSHR	2492	broad.mit.edu	37	2	49191042	49191042	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:49191042C>T	ENST00000406846.2	-	10	1037	c.918G>A	c.(916-918)caG>caA	p.Q306Q	FSHR_ENST00000346173.3_Silent_p.Q244Q|FSHR_ENST00000304421.4_Silent_p.Q280Q|FSHR_ENST00000541117.1_Silent_p.Q42Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	306					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACCCCTAGCCTGAGTCATAT	0.388000									Gonadal Dysgenesis, 46 XX				47	130					0	0	0.139131	0	0
ZNF212	7988	broad.mit.edu	37	7	148947803	148947803	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:148947803G>C	ENST00000335870.2	+	3	574	c.446G>C	c.(445-447)tGt>tCt	p.C149S		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	149	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GATGGCGTCTGTTTCACCGAG	0.502000													19	184					0	0	0.055883	0	0
FOXR1	283150	broad.mit.edu	37	11	118849899	118849899	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:118849899C>T	ENST00000317011.3	+	3	594	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	123					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TTGCCTTTTCCCCCAGCACCT	0.597000													24	28					0	0	0.069288	0	0
KXD1	79036	broad.mit.edu	37	19	18679426	18679426	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:18679426G>A	ENST00000602094.1	+	5	1976	c.516G>A	c.(514-516)gaG>gaA	p.E172E	KXD1_ENST00000595073.1_Silent_p.E172E|KXD1_ENST00000540691.1_Silent_p.E172E|KXD1_ENST00000601630.1_Silent_p.E191E|KXD1_ENST00000599319.1_Silent_p.E172E|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000222307.4_Silent_p.E172E|KXD1_ENST00000539106.1_Silent_p.E172E			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	172							protein binding										ATGACGAGGAGATGACGGGCG	0.647000													27	20					0	0	0.091800	0	0
SORL1	6653	broad.mit.edu	37	11	121358779	121358779	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:121358779C>T	ENST00000260197.7	+	4	696	c.567C>T	c.(565-567)atC>atT	p.I189I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	189					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCTCTGGATCACGTTTGACT	0.517000													71	204					0	0	0.139131	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940135	68940135	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:68940135G>A	ENST00000433211.1	-	7	1161	c.987C>T	c.(985-987)atC>atT	p.I329I	CTNNA3_ENST00000373744.4_Silent_p.I329I|CTNNA3_ENST00000545309.1_Silent_p.I329I|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	329					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCATTCTGCGATAATCCGCT	0.522000													34	30					0	0	0.050027	0	0
PRMT7	54496	broad.mit.edu	37	16	68389640	68389640	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:68389640C>T	ENST00000339507.5	+	17	2495	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	PRMT7_ENST00000348497.4_Silent_p.F407F|PRMT7_ENST00000449359.3_Silent_p.F505F|PRMT7_ENST00000441236.1_Silent_p.F505F			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	555					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCCTGGACTTCAGGGAGAGCA	0.667000													3	11					0	0	0.009096	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993836	75993836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:75993836C>T	ENST00000274364.6	+	33	4528	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	IQGAP2_ENST00000396234.3_Missense_Mutation_p.R907C|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R907C|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R913C	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1411					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R1411C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAATCTATCGTAAGCTTCG	0.353000													9	16					0	0	0.069234	0	0
MFSD9	84804	broad.mit.edu	37	2	103353174	103353174	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:103353174C>T	ENST00000258436.5	-	1	139	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	32					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGCAGCCTCCGCCTCGGTTC	0.657000													35	18					0	0	0.069456	0	0
ADAM10	102	broad.mit.edu	37	15	59009911	59009911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:59009911G>A	ENST00000260408.3	-	2	514	c.71C>T	c.(70-72)cCt>cTt	p.P24L	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	24					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTTATTTAAAGGATTCCCATA	0.328000													5	13					0	0	0.021553	0	0
RNF123	63891	broad.mit.edu	37	3	49753393	49753393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:49753393C>T	ENST00000327697.6	+	33	3433	c.3289C>T	c.(3289-3291)Ctt>Ttt	p.L1097F	RNF123_ENST00000433785.1_Missense_Mutation_p.L209F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1097						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGAGATATTCCTTGACTGGAC	0.592000													30	41					0	0	0.050027	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136411	40136411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:40136411G>A	ENST00000278198.2	-	2	3395	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P478S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P478S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P478S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	478					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACTGGAGTGGGACCCACATTG	0.517000													27	29					0	0	0.099896	0	0
DET1	55070	broad.mit.edu	37	15	89073889	89073889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:89073889C>T	ENST00000564406.1	-	3	1241	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	DET1_ENST00000444300.1_Missense_Mutation_p.D361N|DET1_ENST00000268148.8_Missense_Mutation_p.D350N	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	350						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTTACTACATCCTCACTAGTG	0.458000													12	38					0	0	0.080935	0	0
MUC3A	4584	broad.mit.edu	37	7	100552614	100552614	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100552614C>T	ENST00000319509.7	+	1	1365	c.1365C>T	c.(1363-1365)atC>atT	p.I455I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCCGACCATCCTGAGGACTT	0.567000													165	193					0	0	0.139131	0	0
ABCG4	64137	broad.mit.edu	37	11	119024977	119024977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:119024977G>A	ENST00000307417.3	+	4	728	c.364G>A	c.(364-366)Gga>Aga	p.G122R	ABCG4_ENST00000449422.2_Missense_Mutation_p.G122R|ABCG4_ENST00000531739.1_Missense_Mutation_p.G122R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	122	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGGAGTCTGGAATGAAGGG	0.547000													12	37					0	0	0.080935	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	12					0	0	0.009096	0	0
NRG3	10718	broad.mit.edu	37	10	84733611	84733611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:84733611C>T	ENST00000372142.2	+	8	963	c.689C>T	c.(688-690)cCc>cTc	p.P230L	NRG3_ENST00000404547.1_Missense_Mutation_p.P451L|NRG3_ENST00000404576.2_Missense_Mutation_p.P255L|NRG3_ENST00000545131.1_Missense_Mutation_p.P101L|NRG3_ENST00000372141.2_Missense_Mutation_p.P451L|NRG3_ENST00000556918.1_Missense_Mutation_p.P281L|NRG3_ENST00000537893.1_Missense_Mutation_p.P101L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	451	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTGTCGGCCCCCAGTCATTC	0.502000													24	33					0	0	0.091800	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	G	A	rs141225150	byFrequency	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:55136058G>A	ENST00000314706.3	+	1	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000													50	48					0	0	0.139131	0	0
CELSR1	9620	broad.mit.edu	37	22	46859638	46859638	+	Silent	SNP	G	G	A	rs142490459	byFrequency	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:46859638G>A	ENST00000262738.3	-	2	4148	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	CELSR1_ENST00000395964.1_Silent_p.G1383G	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1383	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGTGTAGCCGCCCTCGCGGC	0.682000													9	15					0	0	0.058154	0	0
TELO2	9894	broad.mit.edu	37	16	1545503	1545503	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:1545503C>T	ENST00000262319.6	+	3	771	c.492C>T	c.(490-492)ccC>ccT	p.P164P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	164						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGCCCTGCCCGATCACCTGG	0.682000													19	13					0	0	0.062417	0	0
MUC3A	4584	broad.mit.edu	37	7	100606204	100606204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100606204G>A	ENST00000319509.7	+	3	1720	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K						mucin 3A, cell surface associated									p.E574K(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATGTAGTGGAGACCGAGGT	0.552000													5	14					0	0	0.021553	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699958	151699958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:151699958G>A	ENST00000392800.2	+	6	1072	c.818G>A	c.(817-819)aGg>aAg	p.R273K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R273K|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	273						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCTCTTGTAAGGGGAACTTTT	0.438000													60	170					0	0	0.139131	0	0
GLG1	2734	broad.mit.edu	37	16	74496465	74496465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:74496465C>T	ENST00000422840.2	-	21	2854	c.2855G>A	c.(2854-2856)gGt>gAt	p.G952D	GLG1_ENST00000205061.5_Missense_Mutation_p.G952D|GLG1_ENST00000447066.2_Missense_Mutation_p.G941D	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	952						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGTCAGGATACCGTGACAGAA	0.443000													18	35					0	0	0.033300	0	0
FLRT1	23769	broad.mit.edu	37	11	63884758	63884758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:63884758G>A	ENST00000246841.3	+	2	2062	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	312	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ATGTGGCTGCGGGACTGGGTG	0.657000													14	33					0	0	0.132662	0	0
TENM4	26011	broad.mit.edu	37	11	78440627	78440627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:78440627C>T	ENST00000278550.7	-	22	3662	c.3200G>A	c.(3199-3201)cGg>cAg	p.R1067Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCCAGGGGTCCGGCTGCTCAG	0.582000													31	44					0	0	0.144211	0	0
POU6F2	11281	broad.mit.edu	37	7	39247072	39247072	+	Missense_Mutation	SNP	C	C	T	rs150551730		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:39247072C>T	ENST00000518318.2	+	4	406	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	POU6F2_ENST00000559001.1_Missense_Mutation_p.L114F|POU6F2_ENST00000403058.1_Missense_Mutation_p.L122F|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	122					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCCAATCCTCATTCCCTT	0.592000													62	254					0	0	0.139131	0	0
WWC3	55841	broad.mit.edu	37	X	10085462	10085462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:10085462C>T	ENST00000380861.4	+	11	1754	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	WWC3_ENST00000454666.1_Missense_Mutation_p.R455C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	455	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCTGTCCTCCCGCTCCTCGCT	0.711000													14	1					0	0	0.033300	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146547	70146547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:70146547C>T	ENST00000335568.5	+	1	331	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.S110L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	110					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTATATTTTTCACAAGAACAA	0.294000													45	75					0	0	0.139131	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020700	33020700	+	RNA	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:33020700C>T	ENST00000565407.2	+	0	108				RP11-19N8.2_ENST00000567619.1_RNA														p.S36S(1)									CTGGGGGGTCCCTGAGACTGT	0.582000													55	101					0	0	0.139131	0	0
OR52L1	338751	broad.mit.edu	37	11	6007636	6007636	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:6007636G>A	ENST00000332249.4	-	1	579	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGAAGGGGATAAGGAGTA	0.498000													37	53					0	0	0.064281	0	0
ARID1A	8289	broad.mit.edu	37	1	27099360	27099360	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:27099360C>T	ENST00000324856.7	+	14	3968	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F	ARID1A_ENST00000457599.2_Silent_p.F1199F|ARID1A_ENST00000374152.2_Silent_p.F816F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1199					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTCCACATTCCAGAAGCGGA	0.458000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								24	28					0	0	0.091800	0	0
RNF182	221687	broad.mit.edu	37	6	13977475	13977475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:13977475G>A	ENST00000488300.1	+	3	648	c.125G>A	c.(124-126)aGg>aAg	p.R42K	RNF182_ENST00000537663.1_Missense_Mutation_p.R42K|RNF182_ENST00000544682.1_Missense_Mutation_p.R42K|RNF182_ENST00000537388.1_Missense_Mutation_p.R42K	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	42						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGTTGTCATAGGGTTTGTGCC	0.483000													48	124					0	0	0.139131	0	0
GPR113	165082	broad.mit.edu	37	2	26534719	26534719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:26534719G>A	ENST00000333478.6	-	8	1862	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	GPR113_ENST00000421160.2_Missense_Mutation_p.S557F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.S626F|GPR113_ENST00000541401.1_Missense_Mutation_p.S229F	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	626					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTAGGGAAGGAGATGCTGTA	0.567000													17	15					0	0	0.146539	0	0
OR6K3	391114	broad.mit.edu	37	1	158686994	158686994	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:158686994G>A	ENST00000368146.1	-	1	959	c.960C>T	c.(958-960)ttC>ttT	p.F320F	OR6K3_ENST00000368145.1_Silent_p.F304F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F320L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTTGAAGACAGAACAGTTTTT	0.393000													29	51					0	0	0.054565	0	0
NPY2R	4887	broad.mit.edu	37	4	156136099	156136099	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:156136099C>T	ENST00000329476.3	+	2	1497	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	NPY2R_ENST00000506608.1_Silent_p.F336F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	336					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAGGCTTTCCTCTCGGCCT	0.498000													32	61					0	0	0.054565	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544223	28544223	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:28544223G>A	ENST00000401766.2	-	5	1310	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC6A4_ENST00000261707.3_Silent_p.I266I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	266					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGCTGAAGTAGATAACAGTGA	0.612000													41	58					0	0	0.104719	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917466	48917466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:48917466G>A	ENST00000311378.4	+	2	1345	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.V180I|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	273	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCCCAGCTGGTCATCTATAA	0.602000													34	24					0	0	0.054565	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	94					0	0	0.009096	0	0
PTPRH	5794	broad.mit.edu	37	19	55707890	55707890	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:55707890C>T	ENST00000376350.3	-	10	2279	c.2257_splice	c.e10+1	p.G753_splice	PTPRH_ENST00000263434.5_Splice_Site_p.G575_splice|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	753					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCCGCTCACCTGCACTCTCG	0.592000													21	44					0	0	0.083992	0	0
MUC3A	4584	broad.mit.edu	37	7	100606203	100606203	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100606203G>A	ENST00000319509.7	+	3	1719	c.1719G>A	c.(1717-1719)gtG>gtA	p.V573V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGATGTAGTGGAGACCGAGG	0.547000													5	14					0	0	0.021553	0	0
DOCK11	139818	broad.mit.edu	37	X	117724265	117724265	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:117724265G>A	ENST00000276204.6	+	19	2213	c.2139_splice	c.e19+1	p.E713_splice	DOCK11_ENST00000276202.7_Splice_Site_p.E713_splice			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	713	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCTATGATGAGGTAAAAATAT	0.353000													34	6					0	0	0.064281	0	0
CARD14	79092	broad.mit.edu	37	17	78178894	78178894	+	Missense_Mutation	SNP	G	G	C	rs147954634		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:78178894G>C	ENST00000573882.1	+	20	2995	c.2459G>C	c.(2458-2460)cGg>cCg	p.R820P	CARD14_ENST00000344227.2_Missense_Mutation_p.R820P|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	820	Guanylate kinase-like.		R -> W (in dbSNP:rs11652075).		activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACCCTGGTGCGGCCCCATCGA	0.667000													8	16					0	0	0.047766	0	0
CACNA1F	778	broad.mit.edu	37	X	49061615	49061615	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:49061615G>A	ENST00000376265.2	-	48	5977	c.5916C>T	c.(5914-5916)gcC>gcT	p.A1972A	CACNA1F_ENST00000376251.1_Silent_p.A1907A|CACNA1F_ENST00000323022.5_Silent_p.A1961A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1972					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGTGGACGCAGGCCATCTCGT	0.617000													12	1					0	0	0.093190	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:47746434C>T	ENST00000273857.4	-	5	783	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_ENST00000504584.1_Missense_Mutation_p.E262K|CORIN_ENST00000508498.1_Missense_Mutation_p.E123K|CORIN_ENST00000502252.1_Missense_Mutation_p.E195K|CORIN_ENST00000505909.1_Missense_Mutation_p.E262K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	262					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCCGTTTTCCTGCTGAGGT	0.378000													48	68					0	0	0.139131	0	0
MRPL40	64976	broad.mit.edu	37	22	19420819	19420819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:19420819G>A	ENST00000333130.3	+	2	738	c.85G>A	c.(85-87)Gag>Aag	p.E29K	MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	29					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGCTTAGAGAGACTCACCA	0.493000													17	21					0	0	0.055883	0	0
MMP15	4324	broad.mit.edu	37	16	58073885	58073885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:58073885C>T	ENST00000219271.3	+	4	1332	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	183					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAGGAGGTGCCCTATGAGGA	0.642000													22	42					0	0	0.069288	0	0
ELP4	26610	broad.mit.edu	37	11	31671743	31671743	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:31671743T>A	ENST00000395934.2	+	9	1124	c.1117T>A	c.(1117-1119)Tta>Ata	p.L373I	Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Missense_Mutation_p.L373I|ELP4_ENST00000379163.5_Missense_Mutation_p.L374I			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	373					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGCTTTTAAATTAAAAAGGAA	0.269000													20	10					0	0	0.049695	0	0
TKTL2	84076	broad.mit.edu	37	4	164394716	164394716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:164394716C>T	ENST00000280605.3	-	1	331	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	57						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTATACTTCATCGTGTGGA	0.577000													20	17					0	0	0.043863	0	0
DBI	1622	broad.mit.edu	37	2	120125788	120125788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:120125788G>A	ENST00000542275.1	+	2	301	c.217G>A	c.(217-219)Gag>Aag	p.E73K	DBI_ENST00000535757.1_Missense_Mutation_p.E29K|DBI_ENST00000535617.1_Missense_Mutation_p.E54K|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000355857.3_Missense_Mutation_p.E12K|DBI_ENST00000311521.4_Missense_Mutation_p.E29K|DBI_ENST00000393103.2_Missense_Mutation_p.E13K|DBI_ENST00000409094.1_Missense_Mutation_p.E29K	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	12	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						AGCTGCAGAGGAGGTTAGGCA	0.507000													63	48					0	0	0.139131	0	0
POLR2A	5430	broad.mit.edu	37	17	7400322	7400322	+	Silent	SNP	C	C	T	rs142508418		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:7400322C>T	ENST00000322644.6	+	5	1176	c.777C>T	c.(775-777)tcC>tcT	p.S259S	POLR2A_ENST00000572844.1_Silent_p.S259S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	259					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCCGCTCTCCGTGCGGCCTG	0.607000													13	8					0	0	0.146539	0	0
UGGT1	56886	broad.mit.edu	37	2	128938530	128938530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:128938530C>T	ENST00000375990.3	+	36	4298	c.3895C>T	c.(3895-3897)Cgg>Tgg	p.R1299W	UGGT1_ENST00000259253.6_Missense_Mutation_p.R1323W			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1323	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAAATGGCCCCGGTGGCTTCA	0.388000													31	48					0	0	0.144211	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501962	140501962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140501962C>T	ENST00000194152.1	+	1	382	c.382C>T	c.(382-384)Cac>Tac	p.H128Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		128	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAAATGATCACTCTCCAAT	0.418000													17	36					0	0	0.038395	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008976	56008976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:56008976C>T	ENST00000456986.1	+	15	1561	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R378C|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R434C|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R301C|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R414C|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R321C|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R422C|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R301C|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R301C|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R442C	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	442					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCCTCAGATCCGCCGGCCTCG	0.517000													6	5					0	0	0.021553	0	0
TRANK1	9881	broad.mit.edu	37	3	36893786	36893786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:36893786G>A	ENST00000429976.2	-	13	4715	c.4468C>T	c.(4468-4470)Cca>Tca	p.P1490S	TRANK1_ENST00000301807.6_Missense_Mutation_p.P940S|TRANK1_ENST00000428977.2_Missense_Mutation_p.P940S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1490					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAGATTCTGGGAAATAGAAC	0.433000													8	7					0	0	0.047766	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223040	67223040	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:67223040C>T	ENST00000314586.6	-	3	330	c.90G>A	c.(88-90)cgG>cgA	p.R30R	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	30	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCGCTGCACCCCGGGCCAGCT	0.692000													8	15					0	0	0.058154	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432830	110432830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:110432830G>A	ENST00000378402.5	+	23	2712	c.2608G>A	c.(2608-2610)Ggg>Agg	p.G870R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	870					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAACAAATGGGCCAACTAT	0.373000										HNSCC(38;0.096)			26	36					0	0	0.083992	0	0
GLI1	2735	broad.mit.edu	37	12	57865615	57865615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:57865615G>A	ENST00000228682.2	+	12	3183	c.3092G>A	c.(3091-3093)gGa>gAa	p.G1031E	GLI1_ENST00000543426.1_Missense_Mutation_p.G903E|GLI1_ENST00000546141.1_Missense_Mutation_p.G990E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1031					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTCCCGAAGGACAGGTATGT	0.582000													57	88					0	0	0.139131	0	0
ITGA4	3676	broad.mit.edu	37	2	182339762	182339762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:182339762C>T	ENST00000397033.2	+	3	825	c.395C>T	c.(394-396)tCc>tTc	p.S132F	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.S132F	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	132					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTCACACTTTCCAGACAGCCA	0.443000													12	34					0	0	0.119110	0	0
GRHL3	57822	broad.mit.edu	37	1	24669432	24669432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:24669432C>T	ENST00000361548.4	+	11	1566	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F	GRHL3_ENST00000350501.5_Missense_Mutation_p.L446F|GRHL3_ENST00000356046.2_Missense_Mutation_p.L400F|GRHL3_ENST00000342072.4_Missense_Mutation_p.L353F|GRHL3_ENST00000236255.4_Missense_Mutation_p.L451F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	446					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GACGACCTACCTTCGGCCAGA	0.637000													78	101					0	0	0.139131	0	0
IGHG1	3500	broad.mit.edu	37	14	106204156	106204156	+	RNA	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:106204156C>T	ENST00000390548.2	-	0	1142																											GCTTCAGGTCCACCACCGAGG	0.667000													19	60					0	0	0.083992	0	0
MYH1	4619	broad.mit.edu	37	17	10399635	10399635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:10399635C>T	ENST00000226207.5	-	34	4982	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1630						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTGGATTTCCATTTCATTG	0.498000													67	60					0	0	0.139131	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952963	16952963	+	RNA	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:16952963G>A	ENST00000412962.1	-	0	653																											CTTGGTCACGGAGAGCTCGAG	0.617000													8	39					0	0	0.038147	0	0
ZNF248	57209	broad.mit.edu	37	10	38121734	38121734	+	Silent	SNP	G	G	A	rs145831910		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:38121734G>A	ENST00000395867.3	-	6	1099	c.549C>T	c.(547-549)atC>atT	p.I183I	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I183I|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCAATAGGGATTTTCTCAT	0.343000													21	25					0	0	0.055883	0	0
TPTE	7179	broad.mit.edu	37	21	10920164	10920164	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr21:10920164C>T	ENST00000298232.7	-	18	1403	c.1035_splice	c.e18-1	p.E346_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.E364_splice|TPTE_ENST00000342420.5_Splice_Site_p.E326_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	364	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGGCTTTCCTACAAAAAA	0.378000													6	110					0	0	0.038147	0	0
CACNA1S	779	broad.mit.edu	37	1	201046174	201046174	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:201046174G>A	ENST00000362061.3	-	12	1927	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	CACNA1S_ENST00000367338.3_Silent_p.F567F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	567	Poly-Leu.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGATGAAGAGGAAGAGCAGCA	0.557000													29	37					0	0	0.144211	0	0
CER1	9350	broad.mit.edu	37	9	14722326	14722326	+	Silent	SNP	C	C	T	rs138557355		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:14722326C>T	ENST00000380911.3	-	1	389	c.345G>A	c.(343-345)ccG>ccA	p.P115P		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	115					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TTCCATCTATCGGCTGGATGA	0.507000													48	74					0	0	0.139131	0	0
RNF123	63891	broad.mit.edu	37	3	49753392	49753392	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:49753392C>T	ENST00000327697.6	+	33	3432	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	RNF123_ENST00000433785.1_Silent_p.F208F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1096						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGAGATATTCCTTGACTGGA	0.592000													30	41					0	0	0.050027	0	0
GJA8	2703	broad.mit.edu	37	1	147380904	147380904	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:147380904C>T	ENST00000240986.4	+	2	875	c.822C>T	c.(820-822)atC>atT	p.I274I	GJA8_ENST00000369235.1_Silent_p.I274I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	274					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAGAGAAAATCGTTTCCCACT	0.537000													19	39					0	0	0.038395	0	0
MRPL45	84311	broad.mit.edu	37	17	36478143	36478143	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:36478143C>T	ENST00000312513.5	+	7	956	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	265					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATACCAAGATCGTTCCCCCAT	0.502000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	45					0	0	0.083992	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	G	A	rs34553661		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:55782888G>A	ENST00000373965.2	-	20	2705	c.2311C>T	c.(2311-2313)Cgt>Tgt	p.R771C	PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)			31	33					0	0	0.144211	0	0
CDH22	64405	broad.mit.edu	37	20	44869728	44869728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:44869728G>A	ENST00000372262.3	-	2	824	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	CDH22_ENST00000537909.1_Missense_Mutation_p.R142C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	142	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R142S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TTGGTGGCGCGATCCCGAGCC	0.607000													66	38					0	0	0.139131	0	0
NDST4	64579	broad.mit.edu	37	4	115891717	115891717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:115891717C>T	ENST00000264363.2	-	4	1768	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	364	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAAAGGTCATCTCCTTCATCT	0.378000													15	11					0	0	0.033300	0	0
PKDCC	91461	broad.mit.edu	37	2	42281233	42281233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:42281233G>A	ENST00000294964.5	+	3	1000	c.820G>A	c.(820-822)Gtc>Atc	p.V274I		NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	274	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						ACTGGGCTCCGTCACTCTGCT	0.632000													11	55					0	0	0.080935	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468253	120468253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:120468253G>A	ENST00000256646.2	-	25	4405	c.4186C>T	c.(4186-4188)Cct>Tct	p.P1396S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1396	EGF-like 35.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTAATAAGGAGGCTGGCGC	0.667000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				127	201					0	0	0.139131	0	0
TMEM151A	256472	broad.mit.edu	37	11	66061887	66061887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:66061887C>T	ENST00000327259.4	+	2	314	c.170C>T	c.(169-171)gCc>gTc	p.A57V		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	57						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GCCTGCGGGGCCGTGGTGGCC	0.741000													23	20					0	0	0.076483	0	0
PECR	55825	broad.mit.edu	37	2	216904055	216904055	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:216904055C>T	ENST00000265322.7	-	8	929	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	285					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAGAAAGGTCCCCTGCTCCCT	0.483000													51	102					0	0	0.139131	0	0
TSPAN2	10100	broad.mit.edu	37	1	115604836	115604836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:115604836C>T	ENST00000369516.2	-	3	221	c.190G>A	c.(190-192)Gga>Aga	p.G64R	TSPAN2_ENST00000369515.2_Missense_Mutation_p.G64R|TSPAN2_ENST00000369514.2_Missense_Mutation_p.G64R	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	64						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GCCCCGGCTCCAACCAGAACA	0.612000													3	5					0	0	0.009096	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423199	107423199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:107423199C>T	ENST00000409382.3	-	6	2135	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V509M	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	509					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGAAGAACCACCTTGCCCTTG	0.562000													78	61					0	0	0.139131	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787008	121787008	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:121787008G>A	ENST00000261367.7	+	12	4035	c.2607G>A	c.(2605-2607)gtG>gtA	p.V869V	SNCAIP_ENST00000379538.3_Silent_p.V456V|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.V822V|SNCAIP_ENST00000414317.2_Silent_p.V424V|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.V380V|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.V869V|SNCAIP_ENST00000379536.2_Silent_p.V762V			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	822					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAGCCTGTGGTGCAGATGG	0.498000													25	41					0	0	0.091800	0	0
MARCH9	92979	broad.mit.edu	37	12	58152034	58152034	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:58152034C>T	ENST00000266643.5	+	3	1088	c.657C>T	c.(655-657)ctC>ctT	p.L219L	MARCH9_ENST00000548358.1_Silent_p.L106L	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	219						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGGATCTGCTCTTTCAGATCT	0.537000													16	29					0	0	0.146539	0	0
MYH1	4619	broad.mit.edu	37	17	10419519	10419519	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:10419519G>A	ENST00000226207.5	-	4	439	c.345C>T	c.(343-345)atC>atT	p.I115I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	115	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AACTCACGTAGATCATCCAGG	0.438000													52	74					0	0	0.139131	0	0
KCNH8	131096	broad.mit.edu	37	3	19491795	19491795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:19491795G>A	ENST00000328405.2	+	9	1839	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	KCNH8_ENST00000537696.1_Intron	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	525				E -> Q (in Ref. 3; BAD92290).		integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGATTCAAATGAGGTAATGTT	0.393000													20	29					0	0	0.055883	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676363	20676363	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:20676363C>T	ENST00000525748.1	+	16	2616	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	781					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GAACCTCTTCCTTGGGACTCA	0.552000													53	68					0	0	0.139131	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468252	120468252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:120468252G>A	ENST00000256646.2	-	25	4406	c.4187C>T	c.(4186-4188)cCt>cTt	p.P1396L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1396	EGF-like 35.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTAATAAGGAGGCTGGCG	0.667000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				130	202					0	0	0.139131	0	0
SEMA3A	10371	broad.mit.edu	37	7	83606496	83606496	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:83606496C>G	ENST00000265362.3	-	15	1983	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D557H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	557					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTTCTTATATCTTGTCGTCTT	0.348000													73	36					0	0	0.139131	0	0
SDSL	113675	broad.mit.edu	37	12	113873216	113873216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:113873216G>A	ENST00000403593.4	+	6	788	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	SDSL_ENST00000345635.4_Missense_Mutation_p.G176R			Q96GA7	SDSL_HUMAN	serine dehydratase-like	176					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	AGTTGGGGGTGGGGGTCTCCT	0.667000													8	16					0	0	0.038147	0	0
RNF182	221687	broad.mit.edu	37	6	13977476	13977476	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:13977476G>A	ENST00000488300.1	+	3	649	c.126G>A	c.(124-126)agG>agA	p.R42R	RNF182_ENST00000537663.1_Silent_p.R42R|RNF182_ENST00000544682.1_Silent_p.R42R|RNF182_ENST00000537388.1_Silent_p.R42R	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	42						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTTGTCATAGGGTTTGTGCCA	0.488000													49	123					0	0	0.139131	0	0
CSMD1	64478	broad.mit.edu	37	8	3443700	3443700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:3443700C>T	ENST00000520002.1	-	10	1738	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	CSMD1_ENST00000539096.1_Missense_Mutation_p.E394K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E395K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E394K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E395K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E394K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E395K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	395	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGAGCGTCTCTGTAACTCTC	0.478000													25	6					0	0	0.083992	0	0
MUC2	4583	broad.mit.edu	37	11	1085976	1085976	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:1085976T>A	ENST00000441003.2	+	22	2843	c.2816T>A	c.(2815-2817)aTc>aAc	p.I939N	MUC2_ENST00000359061.5_Missense_Mutation_p.I939N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	939	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTGTGGTGATCCAGCGTGAT	0.642000													16	35					0	0	0.038395	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147023718	147023718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:147023718G>A	ENST00000265272.5	-	7	1594	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	376						Golgi apparatus		p.S376Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCAGAGATTTTAATTT	0.373000													21	25					0	0	0.062417	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261104	23261104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:23261104C>T	ENST00000450802.3	+	10	877	c.779C>T	c.(778-780)tCg>tTg	p.S260L																								AGAAAAATGTCGCAGGAGGTG	0.468000													35	48					0	0	0.139131	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								33	47					0	0	0.064281	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24892958	24892958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:24892958G>A	ENST00000382071.2	+	3	254	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E57K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	57	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCACCTAGGAGAACCAGGACG	0.498000													73	55					0	0	0.139131	0	0
SCN9A	6335	broad.mit.edu	37	2	167168163	167168163	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:167168163G>T	ENST00000375387.4	-	2	444	c.104C>A	c.(103-105)cCc>cAc	p.P35H	SCN9A_ENST00000409672.1_Missense_Mutation_p.P35H|SCN9A_ENST00000409435.1_Missense_Mutation_p.P35H|SCN9A_ENST00000303354.6_Missense_Mutation_p.P35H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	35						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCTTCTTTGGGTTCCTTTGA	0.473000													32	81					1.62565e-12	1.85541e-12	0.050027	1	0
TNFRSF10A	8797	broad.mit.edu	37	8	23056848	23056848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:23056848C>T	ENST00000221132.3	-	8	1009	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	315					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCTGGCTTTCCATTTGCTGCT	0.582000													29	48					0	0	0.116897	0	0
LRIG3	121227	broad.mit.edu	37	12	59272672	59272672	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:59272672C>A	ENST00000320743.3	-	14	2303	c.2017G>T	c.(2017-2019)Gta>Tta	p.V673L	LRIG3_ENST00000379141.4_Missense_Mutation_p.V613L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	673	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGCTGTATACCCCAATGTCC	0.478000			T	ROS1	NSCLC								26	70					5.61819e-17	6.42937e-17	0.108266	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:9858028C>T	ENST00000396573.2	-	14	3682	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1125K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E968K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1125K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACCAGGCTCCTTCTCACCA	0.507000													73	75					0	0	0.139131	0	0
ZNF48	197407	broad.mit.edu	37	16	30410306	30410306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:30410306G>A	ENST00000320159.2	+	2	2111	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GTGTGGCAAGGGTTTTGGTGA	0.592000													40	60					0	0	0.086207	0	0
GBF1	8729	broad.mit.edu	37	10	104122406	104122406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:104122406C>T	ENST00000369983.3	+	15	2118	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	620					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGATGGCACCCGAGAAGCTAG	0.502000													22	40					0	0	0.076483	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475703	52475703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:52475703C>T	ENST00000231721.2	-	6	553	c.554G>A	c.(553-555)gGg>gAg	p.G185E		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	185	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTACAGCTCCCCGTCTGGGGT	0.662000													21	36					0	0	0.055883	0	0
MFSD9	84804	broad.mit.edu	37	2	103335015	103335015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:103335015G>A	ENST00000258436.5	-	6	1332	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	430					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGCAACCCCCGAGAGGAGAGG	0.637000													20	32					0	0	0.049695	0	0
CRIP3	401262	broad.mit.edu	37	6	43276122	43276122	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:43276122C>T	ENST00000372569.3	-	2	73	c.69G>A	c.(67-69)aaG>aaA	p.K23K	CRIP3_ENST00000274990.4_Silent_p.K23K|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	23	LIM zinc-binding 1.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGTGCCAGTTCTTGCCCAGGG	0.622000													20	43					0	0	0.049695	0	0
G2E3	55632	broad.mit.edu	37	14	31058628	31058628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:31058628G>A	ENST00000206595.6	+	4	329	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.E89K|G2E3_ENST00000438909.2_Missense_Mutation_p.E13K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	59					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAAAGAAGAAGAAGGAGTTTA	0.289000													48	80					0	0	0.139131	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676362	20676362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:20676362C>T	ENST00000525748.1	+	16	2615	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	781					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGAACCTCTTCCTTGGGACTC	0.552000													54	63					0	0	0.139131	0	0
RFX6	222546	broad.mit.edu	37	6	117241473	117241473	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:117241473A>G	ENST00000332958.2	+	12	1199	c.1182_splice	c.e12-1	p.I395_splice		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	395					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTATGCAGATTGCCAGACC	0.358000													29	14					0	0	0.050027	0	0
EXTL3	2137	broad.mit.edu	37	8	28574773	28574773	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:28574773C>T	ENST00000220562.4	+	3	2099	c.1197C>T	c.(1195-1197)acC>acT	p.T399T	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.T15T	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	399						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGAATTCACCTGCAAAAACC	0.602000													19	21					0	0	0.043863	0	0
KLHL21	9903	broad.mit.edu	37	1	6659204	6659204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:6659204C>T	ENST00000377663.3	-	2	1513	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	KLHL21_ENST00000467612.1_Missense_Mutation_p.D77N|KLHL21_ENST00000377658.4_Missense_Mutation_p.D444N|KLHL21_ENST00000463043.1_Missense_Mutation_p.D77N			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	444					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		AGGTCGGTGTCCGGGTCGTAG	0.637000													13	14					0	0	0.093190	0	0
CNTN5	53942	broad.mit.edu	37	11	99786873	99786873	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:99786873A>C	ENST00000524871.1	+	7	955	c.665A>C	c.(664-666)cAt>cCt	p.H222P	CNTN5_ENST00000418526.2_Missense_Mutation_p.H148P|CNTN5_ENST00000279463.3_Missense_Mutation_p.H222P|CNTN5_ENST00000528682.1_Missense_Mutation_p.H222P|CNTN5_ENST00000527185.1_Missense_Mutation_p.H222P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	222	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCGCCACATTCACCAGGT	0.458000													3	21					0	0	0.115264	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460294	32460294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:32460294G>A	ENST00000306901.3	+	10	1241	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	CHRNA7_ENST00000454250.3_Missense_Mutation_p.G411R|CHRNA7_ENST00000455693.2_Missense_Mutation_p.G201R	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	382					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CGCCAGCAACGGGAACCTGCT	0.721000													5	18					0	0	0.093190	0	0
CACNA1C	775	broad.mit.edu	37	12	2788894	2788894	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:2788894G>A	ENST00000399655.1	+	42	5641	c.5376G>A	c.(5374-5376)gaG>gaA	p.E1792E	CACNA1C_ENST00000399603.1_Silent_p.E1792E|CACNA1C_ENST00000399638.1_Silent_p.E1820E|CACNA1C_ENST00000402845.3_Silent_p.E1811E|CACNA1C_ENST00000399641.1_Silent_p.E1792E|CACNA1C_ENST00000399601.1_Silent_p.E1792E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.E1792E|CACNA1C_ENST00000347598.4_Silent_p.E1840E|CACNA1C_ENST00000335762.5_Silent_p.E1817E|CACNA1C_ENST00000399621.1_Silent_p.E1811E|CACNA1C_ENST00000344100.3_Silent_p.E1833E|CACNA1C_ENST00000399591.1_Silent_p.E1800E|CACNA1C_ENST00000399649.1_Silent_p.E1798E|CACNA1C_ENST00000399629.1_Silent_p.E1809E|CACNA1C_ENST00000406454.3_Silent_p.E1792E|CACNA1C_ENST00000399644.1_Silent_p.E1792E|CACNA1C_ENST00000399617.1_Silent_p.E1792E|CACNA1C_ENST00000327702.7_Silent_p.E1792E|CACNA1C_ENST00000399595.1_Silent_p.E1800E|CACNA1C_ENST00000399606.1_Silent_p.E1812E|CACNA1C_ENST00000399634.1_Silent_p.E1792E|CACNA1C_ENST00000399637.1_Silent_p.E1811E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1840					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCACTGTGGAGGGCCACGGGC	0.697000													7	7					0	0	0.029380	0	0
ARID1A	8289	broad.mit.edu	37	1	27099361	27099361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:27099361C>T	ENST00000324856.7	+	14	3969	c.3598C>T	c.(3598-3600)Cag>Tag	p.Q1200*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1200*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q817*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1200					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCCACATTCCAGAAGCGGAA	0.458000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								24	28					0	0	0.099896	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:104184490G>A	ENST00000369937.4	-	3	279	c.134C>T	c.(133-135)tCg>tTg	p.S45L		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587000													24	59					0	0	0.108266	0	0
MUC16	94025	broad.mit.edu	37	19	9070509	9070509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:9070509G>A	ENST00000397910.4	-	3	17140	c.16937C>T	c.(16936-16938)tCc>tTc	p.S5646F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5648	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						TGATGTGGAGGAAACAGGAGA	0.517000													16	23					0	0	0.038395	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559726	20559726	+	Missense_Mutation	SNP	C	C	T	rs138313532	byFrequency	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:20559726C>T	ENST00000329697.6	-	7	1132	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D243N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D322N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	322					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGAAAGATCCTGCTGTAGC	0.493000													32	70					0	0	0.111260	0	0
FPR2	2358	broad.mit.edu	37	19	52272052	52272052	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:52272052G>A	ENST00000598776.1	+	2	913	c.141G>A	c.(139-141)gtG>gtA	p.V47V	FPR2_ENST00000598953.1_Silent_p.V47V|FPR2_ENST00000340023.6_Silent_p.V47V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	47					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGGGCTTGTGATCTGGGTGG	0.557000													29	49					0	0	0.050027	0	0
TTN	7273	broad.mit.edu	37	2	179594029	179594029	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:179594029C>G	ENST00000589042.1	-	64	19078	c.18854G>C	c.(18853-18855)aGa>aCa	p.R6285T	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5041T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5968T|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5968	Ig-like 44.						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)			CAGGGCAACTCTAGTACTGCA	0.403000													66	54					0	0	0.139131	0	0
LMNA	4000	broad.mit.edu	37	1	156105804	156105804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:156105804C>T	ENST00000368300.4	+	6	1261	c.1049C>T	c.(1048-1050)gCa>gTa	p.A350V	LMNA_ENST00000448611.2_Missense_Mutation_p.A238V|LMNA_ENST00000392353.3_Missense_Mutation_p.A269V|LMNA_ENST00000368297.1_Missense_Mutation_p.A269V|LMNA_ENST00000368299.3_Missense_Mutation_p.A350V|LMNA_ENST00000368301.2_Missense_Mutation_p.A350V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A350V|LMNA_ENST00000473598.2_Missense_Mutation_p.A251V|LMNA_ENST00000347559.2_Missense_Mutation_p.A350V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	350	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GAGATGCGGGCAAGGATGCAG	0.647000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				94	145					0	0	0.139131	0	0
IRF9	10379	broad.mit.edu	37	14	24620799	24620799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:24620799C>T	ENST00000558468.1	+	2	268	c.268C>T	c.(268-270)Caa>Taa	p.Q90*	RNF31_ENST00000559275.1_Nonsense_Mutation_p.Q464*|RNF31_ENST00000382687.3_Nonsense_Mutation_p.Q464*|RNF31_ENST00000324103.6_Nonsense_Mutation_p.Q615*																							GCTACAGCGCCAACGCCTAGA	0.642000													18	36					0	0	0.038395	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766754	64766754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:64766754C>T	ENST00000536360.1	-	3	1126	c.313G>A	c.(313-315)Gat>Aat	p.D105N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	105					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACACAAAATCTGTGTTGAGA	0.378000													28	38					0	0	0.108266	0	0
MPP7	143098	broad.mit.edu	37	10	28347511	28347511	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:28347511A>T	ENST00000337532.5	-	16	1596	c.1320T>A	c.(1318-1320)taT>taA	p.Y440*	MPP7_ENST00000445954.2_Nonsense_Mutation_p.Y315*|MPP7_ENST00000375732.1_Nonsense_Mutation_p.Y440*|MPP7_ENST00000540098.1_Nonsense_Mutation_p.Y440*|MPP7_ENST00000375719.3_Nonsense_Mutation_p.Y440*	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	440	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGTTGTTTTTATATTCTCCAT	0.303000													51	91					0	0	0.139131	0	0
RIN1	9610	broad.mit.edu	37	11	66102509	66102509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:66102509G>A	ENST00000311320.4	-	6	887	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RIN1_ENST00000530056.1_Missense_Mutation_p.S149F|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.S149F	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	254					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CAGGGGGCTGGAGGTCTCTGT	0.657000													14	23					0	0	0.132662	0	0
MPP6	51678	broad.mit.edu	37	7	24703239	24703239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:24703239C>T	ENST00000396475.2	+	7	981	c.682C>T	c.(682-684)Cca>Tca	p.P228S	MPP6_ENST00000409761.1_Missense_Mutation_p.P116S|MPP6_ENST00000222644.4_Missense_Mutation_p.P228S	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	228	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGATTATAATCCATACAATGA	0.323000													7	60					0	0	0.029380	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723813	140723813	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140723813G>A	ENST00000253812.6	+	1	213	c.213G>A	c.(211-213)agG>agA	p.R71R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAGGTAGGACGCAGCTTT	0.607000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	70					0	0	0.139131	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				64	36					0	0	0.139131	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415210	34415210	+	Silent	SNP	A	A	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:34415210A>G	ENST00000591619.1	+	3	882	c.96A>G	c.(94-96)gaA>gaG	p.E32E	KIAA1328_ENST00000280020.5_Silent_p.E36E|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Silent_p.E36E|KIAA1328_ENST00000543923.1_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	36										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTTCTGCTGAAGGAAATGTCA	0.388000													55	38					0	0	0.139131	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018183	103018183	+	Missense_Mutation	SNP	G	G	A	rs144150940		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:103018183G>A	ENST00000306312.3	-	18	2110	c.1849C>T	c.(1849-1851)Ccc>Tcc	p.P617S	SLC26A5_ENST00000393729.1_Missense_Mutation_p.P580S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P585S|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P619S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.P50S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P617S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P585S|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P587S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	617	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ACTATTGGGGGATATTTTACT	0.403000													17	100					0	0	0.043863	0	0
GGT5	2687	broad.mit.edu	37	22	24622608	24622608	+	Silent	SNP	C	C	T	rs58692741		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:24622608C>T	ENST00000327365.4	-	7	1445	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	GGT5_ENST00000398292.3_Silent_p.P343P|GGT5_ENST00000263112.7_Silent_p.P311P|GGT5_ENST00000418439.2_Silent_p.P266P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	343					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.P343P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCTGGAGCTTCGGGTGGCTTC	0.627000													26	21					0	0	0.083992	0	0
TRPC6	7225	broad.mit.edu	37	11	101375175	101375175	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:101375175C>T	ENST00000344327.3	-	2	949	c.525G>A	c.(523-525)cgG>cgA	p.R175R	TRPC6_ENST00000348423.4_Silent_p.R175R|TRPC6_ENST00000532133.1_Silent_p.R175R|TRPC6_ENST00000360497.4_Silent_p.R175R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	175					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTCCACAATCCGAACATAAC	0.438000													24	16					0	0	0.076483	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883081	228883081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:228883081G>A	ENST00000392056.3	-	7	2535	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S830F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	830						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTTCCTTGGAGGATGTTGT	0.488000													41	89					0	0	0.086207	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558310	113558310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:113558310G>A	ENST00000284601.3	-	1	810	c.742C>T	c.(742-744)Cct>Tct	p.P248S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	248					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTCTGTTAGGAACTTCTTTC	0.303000													35	189					0	0	0.086207	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:164247100G>A	ENST00000296533.2	-	2	1138	c.607C>T	c.(607-609)Cca>Tca	p.P203S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	203					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGTCCGATGGAAATTGATCA	0.383000													10	15					0	0	0.069234	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122010	39122010	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:39122010G>A	ENST00000216044.5	+	7	1306		c.e7-1		GTPBP1_ENST00000460605.1_Splice_Site	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1						immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCTGCTTAGGATGTGCCCG	0.567000													63	108					0	0	0.139131	0	0
STRAP	11171	broad.mit.edu	37	12	16036573	16036573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:16036573G>A	ENST00000419869.2	+	2	524	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Missense_Mutation_p.A84T	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	71					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GAATAAGGATGCCACCAAAGC	0.453000													8	21					0	0	0.038147	0	0
PSG1	5669	broad.mit.edu	37	19	43383679	43383679	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:43383679G>A	ENST00000244296.2	-	1	192	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.L19L|PSG1_ENST00000595124.1_Silent_p.L19L|PSG1_ENST00000436291.2_Silent_p.L19L|PSG1_ENST00000403380.3_Silent_p.L19L|PSG1_ENST00000595356.1_Silent_p.L19L	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCTGTGAGCAGGAGCCCCTTC	0.552000													47	70					0	0	0.139131	0	0
ZNF160	90338	broad.mit.edu	37	19	53572028	53572028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:53572028G>A	ENST00000601421.1	-	3	2527	c.1651C>T	c.(1651-1653)Cat>Tat	p.H551Y	ZNF160_ENST00000418871.1_Missense_Mutation_p.H587Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.H587Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H587Y			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	587					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)		TCTCCAGTATGAACTCTCCAA	0.413000													27	61					0	0	0.125774	0	0
PGK2	5232	broad.mit.edu	37	6	49753856	49753856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:49753856C>T	ENST00000304801.3	-	1	1197	c.1045G>A	c.(1045-1047)Gct>Act	p.A349T		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	349					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GTTCCCTTAGCAAAGGCATCC	0.483000													26	171					0	0	0.091800	0	0
PRPF8	10594	broad.mit.edu	37	17	1564924	1564924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:1564924C>T	ENST00000572621.1	-	25	4448	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1395K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1395						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCAATGGCCTCTTGCCTCTTG	0.577000													19	26					0	0	0.055883	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724523	38724523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:38724523C>T	ENST00000342213.2	-	1	1051	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	235						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGAGTTTGTCCCAGCGAGCGC	0.622000													77	106					0	0	0.139131	0	0
FAT3	120114	broad.mit.edu	37	11	92534326	92534326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:92534326C>T	ENST00000298047.6	+	9	8164	c.8147C>T	c.(8146-8148)aCc>aTc	p.T2716I	FAT3_ENST00000409404.2_Missense_Mutation_p.T2716I|FAT3_ENST00000525166.1_Missense_Mutation_p.T2566I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2716	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCCTTTACCATTGCAGAA	0.502000										TCGA Ovarian(4;0.039)			281	399					0	0	0.139131	0	0
TTC14	151613	broad.mit.edu	37	3	180322733	180322733	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:180322733C>T	ENST00000412756.2	+	6	864	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TTC14_ENST00000296015.4_Silent_p.F265F|TTC14_ENST00000382584.4_Silent_p.F265F	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	265							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGTTGAATTCCTTCTAGAAA	0.368000													10	16					0	0	0.069234	0	0
CELA2A	63036	broad.mit.edu	37	1	15789319	15789319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:15789319G>A	ENST00000359621.4	+	4	344	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	107	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TAAGATTGTGGTGCACAAGGA	0.587000													55	85					0	0	0.139131	0	0
NIPBL	25836	broad.mit.edu	37	5	37049280	37049280	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:37049280C>T	ENST00000282516.8	+	40	7330	c.6831C>T	c.(6829-6831)tcC>tcT	p.S2277S	NIPBL_ENST00000448238.2_Silent_p.S2277S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2277					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)			TGAGTAGTTCCATCATGCAGC	0.403000													45	67					0	0	0.131918	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442409	41442409	+	RNA	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:41442409G>A	ENST00000599198.1	+	0	501					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TTCAGGACGAGGCTCAGTGTC	0.542000													8	11					0	0	0.038147	0	0
DMC1	11144	broad.mit.edu	37	22	38934376	38934376	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:38934376G>A	ENST00000216024.2	-	11	975	c.699C>T	c.(697-699)ttC>ttT	p.F233F	DMC1_ENST00000428462.2_Silent_p.F178F	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	233					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CACGGCCACTGAAATCCACTC	0.378000								Homologous recombination					32	33					0	0	0.069456	0	0
OMP	4975	broad.mit.edu	37	11	76814343	76814343	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:76814343A>T	ENST00000529803.1	+	1	458	c.458A>T	c.(457-459)aAc>aTc	p.N153I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	153					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGCCCGCCAACCTCAAGGCC	0.632000													39	57					0	0	0.104719	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212515562	212515562	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:212515562G>A	ENST00000261461.2	+	4	1087	c.513G>A	c.(511-513)gaG>gaA	p.E171E	PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Silent_p.E114E	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	171					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GATTTTTGGAGAGCCCTGATT	0.343000													29	46					0	0	0.144211	0	0
NUAK1	9891	broad.mit.edu	37	12	106461156	106461156	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:106461156C>T	ENST00000261402.2	-	7	2789	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	470							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCTGCTGGGTCTTTTTCAAGA	0.572000													27	21					0	0	0.091800	0	0
DMC1	11144	broad.mit.edu	37	22	38934377	38934377	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:38934377A>T	ENST00000216024.2	-	11	974	c.698T>A	c.(697-699)tTc>tAc	p.F233Y	DMC1_ENST00000428462.2_Missense_Mutation_p.F178Y	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	233					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ACGGCCACTGAAATCCACTCG	0.378000								Homologous recombination					33	32					0	0	0.074837	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969002	47969002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:47969002G>A	ENST00000236877.6	-	2	1054	c.659C>T	c.(658-660)tCc>tTc	p.S220F	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	220					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)		CACACCGGGGGAAAAAACAGC	0.507000													12	9					0	0	0.105934	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11846620	11846620	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:11846620G>A	ENST00000396516.2	-	21	2828	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	ZC3H7A_ENST00000575984.1_Silent_p.S73S|ZC3H7A_ENST00000355758.4_Silent_p.S877S			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	877						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GCTTCTCGGAGGAGATGTGGC	0.502000													32	42					0	0	0.144211	0	0
MPP6	51678	broad.mit.edu	37	7	24703240	24703240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:24703240C>T	ENST00000396475.2	+	7	982	c.683C>T	c.(682-684)cCa>cTa	p.P228L	MPP6_ENST00000409761.1_Missense_Mutation_p.P116L|MPP6_ENST00000222644.4_Missense_Mutation_p.P228L	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	228	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GATTATAATCCATACAATGAC	0.323000													7	58					0	0	0.029380	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022309	161022309	+	Silent	SNP	C	C	T	rs140126629		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:161022309C>T	ENST00000368013.3	-	8	1181	c.861G>A	c.(859-861)agG>agA	p.R287R	ARHGAP30_ENST00000368015.1_Silent_p.R110R|ARHGAP30_ENST00000368016.3_Silent_p.R287R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	287					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCTCCACTTCCTGACCTTCA	0.552000													67	109					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179600389	179600389	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:179600389G>A	ENST00000589042.1	-	50	15008	c.14784C>T	c.(14782-14784)ctC>ctT	p.L4928L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L3684L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.L4611L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4611	Ig-like 29.						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)			TCCCTGGGGGGAGTTTTTGCC	0.428000													36	23					0	0	0.080422	0	0
ATP8A1	10396	broad.mit.edu	37	4	42602500	42602500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:42602500C>T	ENST00000381668.5	-	6	676	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E149K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	149					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATACCTTTTCCCAGTGGACA	0.328000													28	37					0	0	0.059317	0	0
OR10J3	441911	broad.mit.edu	37	1	159284004	159284004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:159284004G>A	ENST00000332217.5	-	1	445	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATCCCCAGTGATCCAGAGGC	0.512000													23	29					0	0	0.083992	0	0
SLC15A4	121260	broad.mit.edu	37	12	129294521	129294521	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:129294521C>G	ENST00000266771.5	-	3	1017	c.978G>C	c.(976-978)ttG>ttC	p.L326F	SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	326					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTATCAAAGCCAAGAAAACAG	0.393000													25	33					0	0	0.116897	0	0
NUGGC	389643	broad.mit.edu	37	8	27880870	27880870	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:27880870G>A	ENST00000413272.2	-	19	2497	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	NUGGC_ENST00000341513.6_Silent_p.S785S	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CCTTGCTGGGGGATGCCCTTA	0.537000													10	14					0	0	0.069234	0	0
PMS2	5395	broad.mit.edu	37	7	6042088	6042088	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:6042088T>C	ENST00000265849.7	-	5	638	c.533A>G	c.(532-534)aAg>aGg	p.K178R	PMS2_ENST00000406569.3_Missense_Mutation_p.K178R|PMS2_ENST00000441476.2_Missense_Mutation_p.K72R|PMS2_ENST00000382321.4_Missense_Mutation_p.K178R|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	178					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGTACCTTCTTAATATTCCT	0.418000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				129	64					0	0	0.139131	0	0
DNAH17	8632	broad.mit.edu	37	17	76450757	76450757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:76450757G>A	ENST00000389840.5	-	64	10283	c.10159C>T	c.(10159-10161)Ccc>Tcc	p.P3387S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P3396S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGCTCAAGGGATCCAGGCCA	0.577000													20	32					0	0	0.049695	0	0
IL33	90865	broad.mit.edu	37	9	6250538	6250538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:6250538G>A	ENST00000381434.3	+	2	169	c.156G>A	c.(154-156)atG>atA	p.M52I	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.M52I	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	52					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CTGGCCTTATGATAAAAAAGG	0.418000													35	37					0	0	0.054565	0	0
SYT1	6857	broad.mit.edu	37	12	79679682	79679682	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:79679682G>A	ENST00000261205.4	+	5	939	c.282G>A	c.(280-282)aaG>aaA	p.K94K	SYT1_ENST00000393240.3_Silent_p.K94K|SYT1_ENST00000457153.2_Silent_p.K94K|SYT1_ENST00000552744.1_Silent_p.K94K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	94					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGAAGGGAAAGGAAAAAGGAG	0.348000													12	22					0	0	0.080935	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:55594880C>T	ENST00000378397.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)			69	101					0	0	0.139131	0	0
CTNND2	1501	broad.mit.edu	37	5	11022887	11022887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:11022887C>T	ENST00000304623.8	-	17	3182	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E	CTNND2_ENST00000511377.1_Missense_Mutation_p.G907E|CTNND2_ENST00000503622.1_Missense_Mutation_p.G661E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G565E|CTNND2_ENST00000359640.2_Missense_Mutation_p.G940E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	998					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTACTTATCTCCTTTGCTTTT	0.483000													30	29					0	0	0.050027	0	0
MYO18B	84700	broad.mit.edu	37	22	26423254	26423254	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:26423254A>C	ENST00000335473.7	+	43	7564	c.7314A>C	c.(7312-7314)aaA>aaC	p.K2438N	MYO18B_ENST00000407587.2_Missense_Mutation_p.K2439N|MYO18B_ENST00000536101.1_Missense_Mutation_p.K2438N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2438						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCAAGACCAAAGTGGACTTCG	0.552000													35	62					0	0	0.086207	0	0
ZNF646	9726	broad.mit.edu	37	16	31087996	31087996	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:31087996C>T	ENST00000394979.2	+	1	774	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ZNF646_ENST00000300850.5_Silent_p.L117L			O15015	ZN646_HUMAN	zinc finger protein 646	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTCCACACCTCCAGGGTGAGA	0.587000													21	31					0	0	0.049695	0	0
SPATA25	128497	broad.mit.edu	37	20	44515315	44515315	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:44515315C>T	ENST00000372519.3	-	2	569	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	175						integral to membrane											AGATCAGGTCCTCTTCCCGAA	0.647000													77	47					0	0	0.139131	0	0
PEX12	5193	broad.mit.edu	37	17	33904984	33904984	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:33904984G>A	ENST00000225873.4	-	1	664	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	19					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCAAAGATGGATGGCTGGT	0.493000													31	40					0	0	0.144211	0	0
GPR115	221393	broad.mit.edu	37	6	47682430	47682430	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:47682430C>T	ENST00000283303.2	+	6	1707	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	GPR115_ENST00000371220.1_Silent_p.F540F|GPR115_ENST00000327753.3_Silent_p.F483F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCACTTTTTCTACCTCTCTC	0.408000													69	194					0	0	0.139131	0	0
FAT4	79633	broad.mit.edu	37	4	126389861	126389861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:126389861G>A	ENST00000394329.3	+	11	12107	c.12094G>A	c.(12094-12096)Gaa>Aaa	p.E4032K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2295K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4032	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAATTGCCGAAGAAAGACT	0.413000													32	30					0	0	0.144211	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775115	98775115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:98775115C>T	ENST00000407474.3	+	4	1739	c.1226C>T	c.(1225-1227)cCa>cTa	p.P409L				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATAGAAAATCCAGTGCTGGAA	0.388000													28	4					0	0	0.125774	0	0
ZNF777	27153	broad.mit.edu	37	7	149152757	149152757	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:149152757G>A	ENST00000247930.4	-	2	680	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGGGAGTGGGAGAGAAGGG	0.607000													37	294					0	0	0.139131	0	0
VSTM4	196740	broad.mit.edu	37	10	50315758	50315758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:50315758G>A	ENST00000332853.3	-	2	361	c.338C>T	c.(337-339)tCc>tTc	p.S113F	VSTM4_ENST00000298454.3_Missense_Mutation_p.S113F	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	113	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGTCAAGACGGAGAGCCTGTA	0.622000													37	50					0	0	0.124865	0	0
HYDIN	54768	broad.mit.edu	37	16	70896141	70896141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:70896141G>A	ENST00000393567.2	-	69	11737	c.11587C>T	c.(11587-11589)Cag>Tag	p.Q3863*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3863										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGACTAAGCTGATCTTTTTGA	0.577000													13	15					0	0	0.119110	0	0
USP10	9100	broad.mit.edu	37	16	84767063	84767063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:84767063C>T	ENST00000219473.7	+	2	157	c.44C>T	c.(43-45)cCt>cTt	p.P15L	USP10_ENST00000570191.1_Missense_Mutation_p.P19L|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	15	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GATTTTAGCCCTGATGAATTC	0.289000													28	69					0	0	0.050027	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265476	140265476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:140265476G>A	ENST00000458420.3	+	10	1817	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	543					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCCTGCAAGGAAGGGCTGGA	0.522000										HNSCC(16;0.037)			16	27					0	0	0.033300	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448656	110448656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:110448656G>A	ENST00000378402.5	+	30	3699	c.3595G>A	c.(3595-3597)Gat>Aat	p.D1199N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1199	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGAAGGGGATTTGAATAG	0.358000										HNSCC(38;0.096)			21	23					0	0	0.055883	0	0
DOCK4	9732	broad.mit.edu	37	7	111517203	111517203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:111517203G>A	ENST00000428084.1	-	17	1899	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.L543F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	543	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGAAGTTTGAGGTAGCGGGTA	0.363000													14	5					0	0	0.132662	0	0
CNOT1	23019	broad.mit.edu	37	16	58612679	58612679	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:58612679A>C	ENST00000317147.5	-	13	1840	c.1508T>G	c.(1507-1509)aTc>aGc	p.I503S	CNOT1_ENST00000569240.1_Missense_Mutation_p.I503S|CNOT1_ENST00000441024.2_Missense_Mutation_p.I503S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	503					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)		CAGAGTGGAGATAAGTTCATG	0.448000													31	38					0	0	0.144211	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652790	30652790	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:30652790G>A	ENST00000274853.3	-	1	2882	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Silent_p.L336L	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	336						cytoplasm|cytoskeleton	actin binding										CCGGAGTTCAGGGTCCATTTC	0.572000													124	80					0	0	0.139131	0	0
PRSS42	339906	broad.mit.edu	37	3	46874578	46874578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:46874578G>A	ENST00000447340.1	-	2	231	c.178C>T	c.(178-180)Cga>Tga	p.R60*	PRSS42_ENST00000429665.1_Nonsense_Mutation_p.R164*			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	164					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AGGTCATTTCGAATGGTTGTA	0.458000													30	43					0	0	0.134883	0	0
SYN1	6853	broad.mit.edu	37	X	47466364	47466364	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:47466364C>T	ENST00000295987.7	-	3	631	c.507G>A	c.(505-507)cgG>cgA	p.R169R	SYN1_ENST00000340666.4_Silent_p.R169R	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	169	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TCACCCCATTCCGAAGAACTT	0.488000													14	1					0	0	0.119110	0	0
PRRC2C	23215	broad.mit.edu	37	1	171560901	171560901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:171560901C>T	ENST00000367742.3	+	34	8617	c.8375C>T	c.(8374-8376)cCc>cTc	p.P2792L	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2871L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2725L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2790L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1061							protein C-terminus binding										GAAAAGCCACCCCCTGCACCC	0.473000													36	64					0	0	0.064281	0	0
INTS5	80789	broad.mit.edu	37	11	62415320	62415320	+	Silent	SNP	C	C	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:62415320C>G	ENST00000330574.2	-	2	2284	c.2232G>C	c.(2230-2232)ggG>ggC	p.G744G		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	744					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTGACCAAATCCCTCCAGGAC	0.522000													21	28					0	0	0.055883	0	0
SMC1B	27127	broad.mit.edu	37	22	45798262	45798262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:45798262C>T	ENST00000357450.4	-	5	804	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E269K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	269					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATTCCATGTTCCTTTTTCCTG	0.338000													20	47					0	0	0.049695	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596361	58596361	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:58596361G>A	ENST00000240727.6	-	7	1623	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	ZSCAN18_ENST00000601144.1_Silent_p.S408S|ZSCAN18_ENST00000600404.1_Silent_p.S464S|ZSCAN18_ENST00000421612.2_Silent_p.S272S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	408					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTTCCCGCGGGACAAGCCCG	0.726000													6	7					0	0	0.038147	0	0
GRHL2	79977	broad.mit.edu	37	8	102631910	102631910	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:102631910G>A	ENST00000251808.3	+	9	1580	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	GRHL2_ENST00000395927.1_Silent_p.K398K	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	414						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCCAGATCAAGGTCTTCTGTG	0.333000													24	36					0	0	0.091800	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199118	90199118	+	RNA	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:90199118C>T	ENST00000390276.2	+	0	460																											GGACAGATTTCACTCTCACTA	0.488000													116	379					0	0	0.139131	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542394	86542394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:86542394G>A	ENST00000450689.2	-	14	2043	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P380S|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P453S|KIAA1324L_ENST00000444627.1_Intron	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	620						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGAGGGCAGGGGACACACGAT	0.527000													64	28					0	0	0.139131	0	0
SMC1B	27127	broad.mit.edu	37	22	45798263	45798263	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:45798263C>T	ENST00000357450.4	-	5	803	c.804G>A	c.(802-804)aaG>aaA	p.K268K	SMC1B_ENST00000404354.3_Silent_p.K268K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	268					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCATGTTCCTTTTTCCTGG	0.333000													20	47					0	0	0.049695	0	0
WRN	7486	broad.mit.edu	37	8	30969276	30969276	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:30969276A>G	ENST00000298139.5	+	19	2483	c.2234A>G	c.(2233-2235)aAt>aGt	p.N745S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	745					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAAACAGGGAATATCCTTCAG	0.348000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				26	24					0	0	0.125774	0	0
LIFR	3977	broad.mit.edu	37	5	38523673	38523673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:38523673C>T	ENST00000263409.4	-	5	571	c.409G>A	c.(409-411)Gat>Aat	p.D137N	LIFR_ENST00000453190.2_Missense_Mutation_p.D137N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	137					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGAGTATCTGGAATTAAG	0.338000			T	PLAG1	salivary adenoma								34	53					0	0	0.080422	0	0
NPHP4	261734	broad.mit.edu	37	1	5947473	5947473	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:5947473G>A	ENST00000378156.4	-	18	2623	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	786					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGCCACGACCTCAAGCT	0.642000													23	31					0	0	0.091800	0	0
C7	730	broad.mit.edu	37	5	40947800	40947800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:40947800G>A	ENST00000313164.9	+	8	1194	c.835G>A	c.(835-837)Gag>Aag	p.E279K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	279	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATTCTGGAAGGAGCTTTCCCA	0.453000													22	27					0	0	0.076483	0	0
ZBBX	79740	broad.mit.edu	37	3	167023494	167023494	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:167023494C>T	ENST00000392766.2	-	17	2002	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L	ZBBX_ENST00000455345.2_Silent_p.L554L|ZBBX_ENST00000392764.1_Silent_p.L525L|ZBBX_ENST00000307529.5_Silent_p.L554L|ZBBX_ENST00000392767.2_Silent_p.L554L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	554						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCTCAATTCCAAGGATTCTT	0.323000													18	27					0	0	0.055883	0	0
OR4M2	390538	broad.mit.edu	37	15	22369004	22369004	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:22369004C>T	ENST00000332663.2	+	1	527	c.429C>T	c.(427-429)atC>atT	p.I143I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGCTGTATCCTGGTGGCTC	0.507000													49	339					0	0	0.139131	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	88					0	0	0.009096	0	0
KDR	3791	broad.mit.edu	37	4	55961074	55961074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:55961074G>A	ENST00000263923.4	-	21	3161	c.2866C>T	c.(2866-2868)Cct>Tct	p.P956S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	956	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCACAGGGATTGCTCCA	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			25	51					0	0	0.076483	0	0
PRDM9	56979	broad.mit.edu	37	5	23523410	23523410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:23523410G>A	ENST00000296682.3	+	9	1075	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	298	SET.				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						ATCACCAAGGGGAGAAACTGC	0.438000										HNSCC(3;0.000094)			37	51					0	0	0.098360	0	0
DSCAM	1826	broad.mit.edu	37	21	41516578	41516578	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr21:41516578G>A	ENST00000400454.1	-	17	3576	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1033	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTTGAATTGGAAGTTACCCC	0.483000													57	36					0	0	0.139131	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:79650840C>T	ENST00000397498.4	-	1	114	c.16G>A	c.(16-18)Ggg>Agg	p.G6R		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	6							GTP binding	p.G6R(1)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000													10	13					0	0	0.093190	0	0
TOM1L2	146691	broad.mit.edu	37	17	17797059	17797059	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:17797059G>A	ENST00000379504.3	-	4	365	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TOM1L2_ENST00000535933.1_Silent_p.F94F|TOM1L2_ENST00000540946.1_Silent_p.F94F|TOM1L2_ENST00000318094.10_Silent_p.F94F|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Silent_p.F94F|TOM1L2_ENST00000581396.1_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	94	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CACTGTCGATGAAATCTCGGT	0.517000													29	38					0	0	0.125774	0	0
COL7A1	1294	broad.mit.edu	37	3	48613849	48613849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:48613849C>T	ENST00000328333.8	-	69	5863	c.5756G>A	c.(5755-5757)gGa>gAa	p.G1919E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1887E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1919	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTTGGATCCAGTCTCCCC	0.612000													13	13					0	0	0.105934	0	0
TACC3	10460	broad.mit.edu	37	4	1742647	1742647	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:1742647G>A	ENST00000313288.4	+	13	2263	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	719						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACTCCATGGAGAAGTCCTTCT	0.478000													32	40					0	0	0.144211	0	0
ZNF219	51222	broad.mit.edu	37	14	21560062	21560062	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:21560062G>C	ENST00000360947.3	-	3	1805	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C	ZNF219_ENST00000421093.2_Missense_Mutation_p.S465C|ZNF219_ENST00000451119.2_Missense_Mutation_p.S465C|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	465					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCCAGCAGCAGAGGCAGAGTG	0.706000													3	20					0	0	0.115264	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267877	103267877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:103267877G>A	ENST00000217926.5	-	1	382	c.356C>T	c.(355-357)aCc>aTc	p.T119I		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	119					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ACCAGCCTCGGTGGCGATGCG	0.652000													11	1					0	0	0.119110	0	0
C8orf34	116328	broad.mit.edu	37	8	69445342	69445342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:69445342G>A	ENST00000337103.4	+	6	2322	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	C8orf34_ENST00000348340.2_Missense_Mutation_p.E269K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E355K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E269K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	269					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATCTGTAACAGAAGAAGATAT	0.358000													27	40					0	0	0.116897	0	0
BMP5	653	broad.mit.edu	37	6	55623891	55623891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:55623891C>T	ENST00000370830.3	-	6	1825	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	376					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCAGCGTATCCTTCTGGTGC	0.343000													14	37					0	0	0.119110	0	0
TELO2	9894	broad.mit.edu	37	16	1545502	1545502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:1545502C>T	ENST00000262319.6	+	3	770	c.491C>T	c.(490-492)cCc>cTc	p.P164L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	164						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GTGGCCCTGCCCGATCACCTG	0.682000													19	13					0	0	0.055883	0	0
PPM1E	22843	broad.mit.edu	37	17	57057398	57057398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:57057398G>A	ENST00000308249.2	+	7	1403	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	434	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GTTCTGGATGGGACCGAAGAC	0.493000													19	33					0	0	0.055883	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041878	1041878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:1041878C>T	ENST00000360803.4	+	3	311	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000545048.1_Missense_Mutation_p.P30S	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	77					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGATATTCATCCGTTCTATGC	0.413000													15	11					0	0	0.146539	0	0
NFAM1	150372	broad.mit.edu	37	22	42793927	42793927	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:42793927C>T	ENST00000329021.5	-	4	637	c.600G>A	c.(598-600)agG>agA	p.R200R		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	200					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CTGGGCACTTCCTGGTGGGGT	0.627000													32	48					0	0	0.054565	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580024	35580024	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:35580024C>T	ENST00000373330.1	+	11	2767	c.2593C>T	c.(2593-2595)Ctg>Ttg	p.L865L	ZMYM1_ENST00000359858.4_Silent_p.L865L|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	865						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTGAAATTCCTGTATCGAGT	0.328000													15	20					0	0	0.119110	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527578	70527578	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:70527578C>T	ENST00000381269.2	-	3	2616	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Silent_p.P621P|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000534137.1_Silent_p.P621P|SLC8A3_ENST00000533541.1_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	621					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCATCCATTTCGGTTCACCAA	0.343000													23	37					0	0	0.091800	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348016	140348016	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140348016G>A	ENST00000289269.5	+	1	2197	c.1665G>A	c.(1663-1665)ggG>ggA	p.G555G	PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		555	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACAAGGGGAGCCCACCAC	0.512000													28	42					0	0	0.144211	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049047	36049047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:36049047G>A	ENST00000282507.3	-	4	888	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P229S|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	263						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAGTGTTGGGAAGCAGAGGT	0.448000													26	31					0	0	0.099896	0	0
LANCL2	55915	broad.mit.edu	37	7	55433764	55433764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:55433764G>A	ENST00000254770.2	+	1	624	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	16					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCTGGGAGGGGAGGCAGAAAT	0.701000													7	10					0	0	0.029380	0	0
PHKA2	5256	broad.mit.edu	37	X	18944674	18944674	+	Silent	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:18944674C>T	ENST00000379942.4	-	14	2021	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	452					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCAATAAGTCCTTAATGTGAT	0.453000													25	7					0	0	0.099896	0	0
RGP1	9827	broad.mit.edu	37	9	35749252	35749252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:35749252G>A	ENST00000456972.2	+	1	50	c.50G>A	c.(49-51)aGg>aAg	p.R17K	GBA2_ENST00000545786.1_Intron			Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	0										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCCGGAAGGGACTCCGCG	0.766000													4	0					0	0	0.009096	0	0
FOXR1	283150	broad.mit.edu	37	11	118849898	118849898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:118849898C>T	ENST00000317011.3	+	3	593	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	123					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TTTGCCTTTTCCCCCAGCACC	0.597000													24	28					0	0	0.069288	0	0
TIGD2	166815	broad.mit.edu	37	4	90034207	90034207	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:90034207T>C	ENST00000317005.2	+	1	240	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	28	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AGGCATCTCTTTCAAAAAACT	0.353000													22	45					0	0	0.055883	0	0
ASB4	51666	broad.mit.edu	37	7	95115312	95115312	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:95115312A>T	ENST00000325885.5	+	1	100	c.29A>T	c.(28-30)aAa>aTa	p.K10I	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Missense_Mutation_p.K10I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	10					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTGTCACTAAATCTGGAGCT	0.468000													43	23					0	0	0.117977	0	0
FREM1	158326	broad.mit.edu	37	9	14759870	14759870	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:14759870C>A	ENST00000380881.4	-	29	6052	c.5237G>T	c.(5236-5238)tGg>tTg	p.W1746L	FREM1_ENST00000422223.2_Missense_Mutation_p.W1745L|FREM1_ENST00000380880.3_Missense_Mutation_p.W1745L|FREM1_ENST00000380894.1_Missense_Mutation_p.W281L|FREM1_ENST00000486223.1_5'UTR			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1745	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGTCTGTGACCATTCAATATG	0.428000													35	149					2.40579e-17	2.76053e-17	0.086207	1	0
OR4K1	79544	broad.mit.edu	37	14	20404445	20404445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:20404445C>T	ENST00000285600.4	+	1	679	c.620C>T	c.(619-621)tCa>tTa	p.S207L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCCTGATATCATTGAGCTGT	0.433000													27	39					0	0	0.091800	0	0
ACSS3	79611	broad.mit.edu	37	12	81536910	81536910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:81536910C>T	ENST00000548058.1	+	5	1715	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	ACSS3_ENST00000261206.3_Missense_Mutation_p.R268C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	269						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTCCCGGTCGTGACCTTGA	0.408000													11	25					0	0	0.080935	0	0
MLLT10	8028	broad.mit.edu	37	10	21962686	21962686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:21962686C>T	ENST00000377072.3	+	11	1807	c.1459C>T	c.(1459-1461)Caa>Taa	p.Q487*	MLLT10_ENST00000377059.3_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000307729.7_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.Q487*	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	487	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAACAAAAATCAAGAGAATGT	0.403000			T	"""MLL, PICALM, CDK6"""	AL								32	43					0	0	0.144211	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276800	15276800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:15276800G>A	ENST00000263388.2	-	30	5540	c.5465C>T	c.(5464-5466)tCc>tTc	p.S1822F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1822					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GATCAGGTCGGAGATGATGCT	0.607000													11	33					0	0	0.093190	0	0
OR8D2	283160	broad.mit.edu	37	11	124189546	124189546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:124189546G>A	ENST00000357438.2	-	1	638	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGTCAATAAGGGGAGAATATC	0.448000													6	53					0	0	0.021553	0	0
MFSD10	10227	broad.mit.edu	37	4	2933366	2933366	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:2933366G>A	ENST00000329687.4	-	8	1473	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MFSD10_ENST00000507555.1_Intron|MFSD10_ENST00000508221.1_Silent_p.F313F|MFSD10_ENST00000514800.1_Silent_p.F313F|MFSD10_ENST00000355443.4_Silent_p.F313F	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	313					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCGATGAGGAAAAACATCT	0.682000													10	9					0	0	0.058154	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413000													3	79					0	0	0.115264	0	0
LDHB	3945	broad.mit.edu	37	12	21797036	21797036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:21797036G>A	ENST00000396076.1	-	4	586	c.254C>T	c.(253-255)tCt>tTt	p.S85F	LDHB_ENST00000350669.1_Missense_Mutation_p.S85F	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	85					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	GGCAGTCACAGAATAATCTTT	0.373000													13	17					0	0	0.105934	0	0
HRC	3270	broad.mit.edu	37	19	49657828	49657828	+	Missense_Mutation	SNP	C	C	T	rs139799783		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:49657828C>T	ENST00000252825.4	-	1	853	c.667G>A	c.(667-669)Gag>Aag	p.E223K	HRC_ENST00000595625.1_Missense_Mutation_p.E223K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	223	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCATCCTCTTCACTCCCA	0.547000													12	20					0	0	0.080935	0	0
GLRA2	2742	broad.mit.edu	37	X	14625263	14625263	+	Silent	SNP	G	G	A	rs113271440		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:14625263G>A	ENST00000218075.4	+	6	1118	c.588G>A	c.(586-588)acG>acA	p.T196T	GLRA2_ENST00000443437.2_Silent_p.T107T|GLRA2_ENST00000355020.4_Silent_p.T196T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	196					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.T196T(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTGGGTACACGATGAATGACC	0.388000													29	8					0	0	0.045705	0	0
SSH1	54434	broad.mit.edu	37	12	109186226	109186226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:109186226G>A	ENST00000326495.5	-	14	1822	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	SSH1_ENST00000360239.3_Missense_Mutation_p.P265S|SSH1_ENST00000551165.1_Missense_Mutation_p.P577S|SSH1_ENST00000326470.5_Missense_Mutation_p.P588S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	577					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGACCTTTGGGACTCCCAAAC	0.617000													42	49					0	0	0.086207	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307888	140307888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140307888G>A	ENST00000253807.2	+	1	1411	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D471N|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGCCCAGGACCCCGACCT	0.522000													52	64					0	0	0.139131	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:137814319G>A	ENST00000409968.1	+	3	647	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000													37	97					0	0	0.069456	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987048	89987048	+	RNA	SNP	T	T	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:89987048T>A	ENST00000491977.1	+	0	359																											GATGTTGGGGTTTATTACTGC	0.532000													12	215					0	0	0.080935	0	0
MFSD9	84804	broad.mit.edu	37	2	103353173	103353173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:103353173C>T	ENST00000258436.5	-	1	140	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	33					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TCGGCAGCCTCCGCCTCGGTT	0.657000													35	19					0	0	0.069456	0	0
ZNF777	27153	broad.mit.edu	37	7	149152756	149152756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:149152756G>A	ENST00000247930.4	-	2	681	c.358C>T	c.(358-360)Cac>Tac	p.H120Y		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGGGGGAGTGGGAGAGAAGG	0.607000													38	291					0	0	0.139131	0	0
GLI2	2736	broad.mit.edu	37	2	121745822	121745822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:121745822G>A	ENST00000452319.1	+	14	2392	c.2332G>A	c.(2332-2334)Ggg>Agg	p.G778R	GLI2_ENST00000361492.4_Missense_Mutation_p.G778R|GLI2_ENST00000314490.11_Missense_Mutation_p.G450R			P10070	GLI2_HUMAN	GLI family zinc finger 2	778					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				Tgggggcggcgggcccgcggg	0.697000													14	9					0	0	0.132662	0	0
EPG5	57724	broad.mit.edu	37	18	43432602	43432602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:43432602G>A	ENST00000282041.5	-	44	7604	c.7570C>T	c.(7570-7572)Ctt>Ttt	p.L2524F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2524					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGGATTCAAGAGCATTCAGA	0.443000													14	27					0	0	0.132662	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093746	69093746	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:69093746G>A	ENST00000332644.5	-	10	1295	c.1134C>T	c.(1132-1134)atC>atT	p.I378I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	378	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CAAGATGCCAGATATTTCTGG	0.368000													21	16					0	0	0.055883	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887843	30887843	+	Silent	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:30887843G>A	ENST00000392772.2	-	10	1004	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	SEC14L4_ENST00000540456.1_Silent_p.L282L|SEC14L4_ENST00000255858.7_Silent_p.L297L|SEC14L4_ENST00000381982.3_Silent_p.L297L|RP4-539M6.14_ENST00000442126.1_RNA			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	297	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCCGGGAACAGGATCTCGTTC	0.657000													10	13					0	0	0.069234	0	0
FCHO1	23149	broad.mit.edu	37	19	17892342	17892342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:17892342G>A	ENST00000594202.1	+	22	2101	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	FCHO1_ENST00000595033.1_Missense_Mutation_p.G558R|FCHO1_ENST00000596536.1_Missense_Mutation_p.G608R|FCHO1_ENST00000539407.1_Missense_Mutation_p.G608R|FCHO1_ENST00000600676.1_Missense_Mutation_p.G608R|FCHO1_ENST00000596951.1_Missense_Mutation_p.G608R|FCHO1_ENST00000389133.4_Missense_Mutation_p.G608R|FCHO1_ENST00000252771.7_Missense_Mutation_p.G608R|FCHO1_ENST00000597512.1_Missense_Mutation_p.G615R	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	608										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATCCCAGACAGGACACGGTAT	0.612000													24	33					0	0	0.083992	0	0
FAF1	11124	broad.mit.edu	37	1	50957438	50957439	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:50957438_50957439delCT	ENST00000396153.2	-	16	1980_1981	c.1529_1530delAG	c.(1528-1530)gfs	p.E510fs	FAF1_ENST00000545823.1_Frame_Shift_Del_p.E268fs|FAF1_ENST00000371778.4_Frame_Shift_Del_p.E510fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	510					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCTCATCTTGCTCTCTCTTCAC	0.332													18	67	---	---	---	---					
ZCCHC11	23318	broad.mit.edu	37	1	52962697	52962697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:52962697delA	ENST00000371544.3	-	5	1420	c.1158delT	c.(1156-1158)gtfs	p.V386fs	ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.V386fs|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	386					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATGTCGTTATAACCTTTGACA	0.348													18	38	---	---	---	---					
LPPR4	9890	broad.mit.edu	37	1	99771243	99771244	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:99771243_99771244insTT	ENST00000370185.3	+	7	1466_1467	c.969_970insTT	c.(967-972)ggtgtafs	p.V324fs	LPPR4_ENST00000457765.1_Frame_Shift_Ins_p.V266fs|LPPR4_ENST00000370184.1_Frame_Shift_Ins_p.V166fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		324							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AACACTAGGGCTTGTATGCTGT	0.450													54	85	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													7	60	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416627	113416628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:113416627_113416628insC	ENST00000272542.3	+	7	1543_1544	c.1004_1005insC	c.(1003-1005)agtfs	p.S335fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	335					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGCTTCCCAGCGTGGACTTGA	0.520													22	81	---	---	---	---					
FABP4	2167	broad.mit.edu	37	8	82395447	82395457	+	Translation_Start_Site	DEL	GCAGTTTTCAG	GCAGTTTTCAG	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:82395447_82395457delGCAGTTTTCAG	ENST00000256104.4	-	0	41_51				RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte						triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GAAGGAAGCTGCAGTTTTCAGGAGGGTGCTG	0.403													6	9	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53574783	53574785	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:53574783_53574785delGTG	ENST00000342160.3	-	67	10942_10944	c.10485_10487delCAC	c.(10483-10488)act>ac	p.TT3495del	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_In_Frame_Del_p.TT3495del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3495	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ggaggcggcagtggtggtggtgg	0.591													2	4	---	---	---	---					
