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
SERPINB9	5272	broad.mit.edu	37	6	2896393	2896393	+	Missense_Mutation	SNP	T	T	C	rs146337993		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:2896393T>C	ENST00000380698.4	-	3	289	c.200A>G	c.(199-201)cAt>cGt	p.H67R		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	67					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAAAGCCCGATGAATGTCTTC	0.463000													18	75					0	0	1	0	0
CALML4	91860	broad.mit.edu	37	15	68492003	68492003	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:68492003G>T	ENST00000467889.1	-	3	364	c.180C>A	c.(178-180)ttC>ttA	p.F60L	CALML4_ENST00000395465.3_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000540479.1_5'UTR|CALML4_ENST00000448060.2_Intron	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	60	EF-hand 1.			F -> S (in Ref. 1; AAG48255).			calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CATACAGGGAGAAGCATTCCT	0.627000													4	95					2.7689e-08	3.07046e-08	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13753654	13753654	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:13753654A>C	ENST00000265104.4	-	63	10664	c.10560T>G	c.(10558-10560)gaT>gaG	p.D3520E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3520					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAACAGTACATCCCCTAAAA	0.343000									Kartagener syndrome				3	33					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890296	55890296	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:55890296G>C	ENST00000313472.3	+	1	448	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGGCCTTATGTGATTGGCTT	0.453000													15	73					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:58952079C>T	ENST00000589222.1	+	9	709	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M|BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000390652.5_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	214						nucleus		p.T214M(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328000													4	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999557	8999557	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:8999557T>G	ENST00000397910.4	-	56	40821	c.40618A>C	c.(40618-40620)Aag>Cag	p.K13540Q	MUC16_ENST00000380951.5_Missense_Mutation_p.K181Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13542	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCATCCTTCTTGGGCCTG	0.597000													7	41					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153921814	153921814	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:153921814G>A	ENST00000368633.1	-	12	1578	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	CRTC2_ENST00000368630.3_Missense_Mutation_p.P164L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	484					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGTATGGGGGTAACCGCTG	0.542000													3	124					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333340	70333340	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:70333340C>T	ENST00000338508.4	-	32	3060	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	SHANK2_ENST00000409161.1_Missense_Mutation_p.E424K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E425K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E641K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	641					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCTGTCCTCCACGTTGGAC	0.627000													12	195					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													6	118					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743810	26743810	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:26743810G>A	ENST00000529632.2	+	11	2534	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M	SEZ6L_ENST00000404234.3_Missense_Mutation_p.V780M|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000248933.6_Missense_Mutation_p.V780M|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V780M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V780M	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	780	Sushi 3.					endoplasmic reticulum membrane|integral to membrane		p.V780M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTATGACATCGTGGGGAGTGA	0.552000													43	74					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71190385	71190385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:71190385G>A	ENST00000234396.4	+	10	1076	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V335M|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	335					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGCGGGCCGCGTGGAGGGTCG	0.627000													6	87					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50688081	50688081	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:50688081G>C	ENST00000216271.5	-	6	898	c.546C>G	c.(544-546)ctC>ctG	p.L182L	HDAC10_ENST00000448072.1_Silent_p.L182L|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.L182L	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	182	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATCCTCAAAGAGATACTGGA	0.622000													5	59					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871491	100871491	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chrX:100871491C>A	ENST00000539247.1	-	4	552	c.120G>T	c.(118-120)gaG>gaT	p.E40D	ARMCX6_ENST00000361910.4_Missense_Mutation_p.E40D|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.E40D	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	40						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						cctcttccccctcctcctcca	0.547000													3	34					1	1	1	1	0
C8orf86	389649	broad.mit.edu	37	8	38373959	38373959	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38373959C>T	ENST00000358138.1	-	2	411	c.387G>A	c.(385-387)gtG>gtA	p.V129V	C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	129										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						AATGAGAGATCACTGTGGGCT	0.418000													35	113					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:16260826G>C	ENST00000375759.3	+	11	8295	c.8091G>C	c.(8089-8091)gtG>gtC	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597000													7	63					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331818	107331818	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:107331818G>T	ENST00000335040.1	+	1	370	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGACCGCTATGTGGCCATCTG	0.537000													13	47					4.14922e-12	4.64712e-12	1	1	0
E2F8	79733	broad.mit.edu	37	11	19258890	19258890	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:19258890A>C	ENST00000527884.1	-	4	654	c.422T>G	c.(421-423)aTc>aGc	p.I141S	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.I141S	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	141					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCAAGGCAGATGTCATTATT	0.373000													7	36					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020057	99020057	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:99020057T>A	ENST00000299157.4	-	3	1158	c.785A>T	c.(784-786)tAc>tTc	p.Y262F	IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	266					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTTGGGTTCGTAGTCGGAAAG	0.413000													18	75					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14312706	14312706	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:14312706C>G	ENST00000571589.1	+	8	716	c.544C>G	c.(544-546)Cag>Gag	p.Q182E	MKL2_ENST00000574045.1_Missense_Mutation_p.Q182E|MKL2_ENST00000341243.5_Missense_Mutation_p.Q171E|MKL2_ENST00000572567.1_Missense_Mutation_p.Q171E|MKL2_ENST00000573051.1_Missense_Mutation_p.Q131E|MKL2_ENST00000318282.5_Missense_Mutation_p.Q182E	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	171					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCCACACTCAGGGCGATTT	0.502000													7	50					0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107884	26107884	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:26107884A>G	ENST00000338379.4	-	1	480	c.438T>C	c.(436-438)acT>acC	p.T146T		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	146					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGGTTTTAGCAGTCTTTGGTG	0.463000													6	52					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882050	42882050	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:42882050T>G	ENST00000426548.1	-	3	1405	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	GJC1_ENST00000592524.1_Missense_Mutation_p.N379T|GJC1_ENST00000330514.4_Missense_Mutation_p.N379T|GJC1_ENST00000590758.1_Missense_Mutation_p.N379T	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	379					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AGTGCTTTTGTTGGACCCAGC	0.517000													15	199					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													5	13					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204709	72204709	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:72204709C>T	ENST00000305425.4	-	3	1533	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.G371R|DACH1_ENST00000359684.2_Missense_Mutation_p.G371R	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	369	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCATGTCCCCGTTTTCAGAG	0.378000													4	167					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795457	142795457	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chrX:142795457C>A	ENST00000370498.1	-	2	974	c.221G>T	c.(220-222)cGa>cTa	p.R74L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	74								p.R74Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTTCTCTCGGGACTGGTC	0.428000													4	103					0.184627	0.186291	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78772065	78772065	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:78772065G>A	ENST00000545128.1	+	11	1955	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	PCSK5_ENST00000376752.4_Missense_Mutation_p.D473N|PCSK5_ENST00000376767.3_Missense_Mutation_p.D473N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	473	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGAGCACAGACCGACAAAT	0.522000													11	84					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525736	248525736	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:248525736G>T	ENST00000366475.1	+	1	854	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTTCTATGGGGCTGCCATC	0.552000													14	130					2.94398e-08	3.23261e-08	1	1	0
HCN4	10021	broad.mit.edu	37	15	73616166	73616166	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:73616166C>A	ENST00000261917.3	-	8	3261	c.2268G>T	c.(2266-2268)gcG>gcT	p.A756A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	756					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.A756A(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGACGCGGTGCGCGCAGTGGG	0.632000													9	57					3.86212e-05	4.08073e-05	1	1	0
SPATC1L	84221	broad.mit.edu	37	21	47588241	47588241	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:47588241C>T	ENST00000291672.5	-	3	1586	c.525G>A	c.(523-525)agG>agA	p.R175R	SPATC1L_ENST00000330205.6_Silent_p.R21R	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like																		AGTAGCTCCTCCTGGTCCTGT	0.662000													5	48					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931440	46931440	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:46931440G>C	ENST00000262738.3	-	1	1627	c.1628C>G	c.(1627-1629)cCg>cGg	p.P543R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P543R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	543	Cadherin 3.				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)		ATTGATGAGCGGGGGCCGGCC	0.582000													13	82					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20420307	20420307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:20420307C>A	ENST00000222573.4	+	5	1338	c.654C>A	c.(652-654)tgC>tgA	p.C218*	ITGB8_ENST00000537992.1_Nonsense_Mutation_p.C83*	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATTTAGACTGCATGCCTCCCC	0.373000													3	85					0.014758	0.0153046	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47342656	47342656	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr14:47342656T>G	ENST00000426342.1	-	14	2584	c.1838A>C	c.(1837-1839)cAc>cCc	p.H613P	MDGA2_ENST00000357362.3_Missense_Mutation_p.H613P|MDGA2_ENST00000399222.3_Missense_Mutation_p.H44P|MDGA2_ENST00000439988.3_Missense_Mutation_p.H911P|MDGA2_ENST00000399232.2_Missense_Mutation_p.H842P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	842	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCATACATGTGATAAAAGAA	0.363000													8	59					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	248024	248024	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:248024G>A	ENST00000538872.1	+	4	1613	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I	IQSEC3_ENST00000382841.2_Missense_Mutation_p.V196I|IQSEC3_ENST00000326261.4_Missense_Mutation_p.V499I|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	499					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAACATATCCGTCTCCTCCTC	0.711000													3	31					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923892	92923892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:92923892A>G	ENST00000327111.3	+	2	2420	c.733A>G	c.(733-735)Atc>Gtc	p.I245V		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	245					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGATCTGCAGATCACCGACCA	0.647000													19	85					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38374031	38374031	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38374031C>G	ENST00000358138.1	-	2	340		c.e2-1		C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCTCATAAGCCTAGAGACAGG	0.423000													10	68					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416242	124416242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:124416242G>A	ENST00000409039.3	+	74	12647	c.12622G>A	c.(12622-12624)Gaa>Aaa	p.E4208K	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4208					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAAGAAATAGAAAACAAGAT	0.517000													7	26					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30316094	30316094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:30316094T>C	ENST00000389194.2	-	23	4258	c.4253A>G	c.(4252-4254)aAa>aGa	p.K1418R	LTN1_ENST00000361371.5_Missense_Mutation_p.K1372R	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1372							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAAGTTTGTTTTTTGGTCAGC	0.388000													21	127					0	0	1	0	0
NSMCE1	197370	broad.mit.edu	37	16	27268804	27268804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:27268804C>T	ENST00000361439.4	-	2	187	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	30					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						ACGTCCCATTCCTCTAGCACG	0.582000													29	63					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349974	79349974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:79349974G>A	ENST00000233735.1	+	5	432	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.R110P(1)|p.R110H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TAGAACCGCCGCTGGCACTGG	0.552000													14	139					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148843	103148843	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:103148843G>A	ENST00000295269.4	+	12	2550	c.2093G>A	c.(2092-2094)cGg>cAg	p.R698Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	698					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATGCTCTCGGATAGGGTCA	0.448000													14	79					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34942489	34942489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:34942489C>G	ENST00000304718.4	+	12	1818	c.1502C>G	c.(1501-1503)tCt>tGt	p.S501C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	501					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTGATGACTCTTGTGTTCAT	0.368000													17	75					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627566	40627566	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:40627566G>A	ENST00000397536.2	-	7	803	c.768C>T	c.(766-768)caC>caT	p.H256H	C15orf52_ENST00000559313.1_Silent_p.H466H			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	466										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCAGCCTGGTGATTGCTCC	0.657000													5	17					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72954437	72954437	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:72954437G>A	ENST00000425042.2	-	11	1454	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_030630.2	NP_085133.1			HID1 domain containing																		TGAGCAGGTCGGCGTGGGTCC	0.662000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	22					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370501	56370501	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:56370501T>C	ENST00000301295.6	+	3	2164	c.1742T>C	c.(1741-1743)aTt>aCt	p.I581T	NLRP4_ENST00000346986.5_Missense_Mutation_p.I581T|NLRP4_ENST00000587891.1_Missense_Mutation_p.I506T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	581							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTCATATTATTGACAACGTG	0.418000													5	37					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034354	90034354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:90034354G>C	ENST00000317005.2	+	1	387	c.229G>C	c.(229-231)Gag>Cag	p.E77Q		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	77	HTH CENPB-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)		ATCAACATACGAGGAGCTTGA	0.363000													10	60					0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42720041	42720041	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:42720041C>A	ENST00000306078.1	-	1	1196	c.601G>T	c.(601-603)Gcc>Tcc	p.A201S	KCNG3_ENST00000394973.4_Missense_Mutation_p.A201S	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	201						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CGGTTGTCGGCGGCTGCGTTG	0.687000													11	26					3.27435e-08	3.56046e-08	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179335702	179335702	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:179335702A>G	ENST00000367618.3	+	2	445	c.58A>G	c.(58-60)Aaa>Gaa	p.K20E	AXDND1_ENST00000457238.2_Missense_Mutation_p.K20E|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	20										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATCTGAGAGCAAAAAGTTAAA	0.418000													9	49					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42777325	42777325	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:42777325C>T	ENST00000310232.6	-	10	1328	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	415										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTTGCTGGTCCAGGTGGTGCT	0.632000													12	54					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:31323023G>C	ENST00000265071.2	+	12	2246	c.1981G>C	c.(1981-1983)Gac>Cac	p.D661H		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D661N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGTTACAACGACGAAGGTGG	0.488000													11	48					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573712	53573712	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:53573712G>A	ENST00000025008.5	-	10	2011	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.Y496Y|RB1CC1_ENST00000435644.2_Silent_p.Y496Y	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	496					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)				CAGCTAAGCAGTACATCTGAG	0.363000													10	47					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178919316	178919316	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:178919316G>C	ENST00000263967.3	+	4	958	c.801G>C	c.(799-801)ctG>ctC	p.L267L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	267	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATATCCTCTGAGTCAGTATA	0.274000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			3	28					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43532701	43532701	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:43532701T>C	ENST00000395891.2	+	19	3964	c.3359T>C	c.(3358-3360)gTg>gCg	p.V1120A	HECW1_ENST00000453890.1_Missense_Mutation_p.V1086A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GACAAGATTGTGGCATTTCTT	0.463000													12	49					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80017935	80017935	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:80017935G>T	ENST00000354321.7	-	10	1542	c.1057C>A	c.(1057-1059)Cgc>Agc	p.R353S	DUS1L_ENST00000306796.5_Missense_Mutation_p.R353S			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	353					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGCTTGCTGCGCGCACCTGCC	0.657000													4	19					0.184627	0.186291	1	1	0
UTP14C	9724	broad.mit.edu	37	13	52605023	52605023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:52605023G>C	ENST00000521776.2	+	2	2816	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	695					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCGGCAATTTGAAAGGACCAT	0.488000													6	126					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51064043	51064043	+	Missense_Mutation	SNP	G	G	A	rs74315480		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:51064043G>A	ENST00000547307.1	-	7	1573	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	ARSA_ENST00000395619.3_Missense_Mutation_p.R392W|ARSA_ENST00000453344.2_Missense_Mutation_p.R306W|ARSA_ENST00000547805.1_Missense_Mutation_p.R390W|ARSA_ENST00000356098.5_Missense_Mutation_p.R392W|ARSA_ENST00000216124.5_Missense_Mutation_p.R392W|ARSA_ENST00000395621.3_Missense_Mutation_p.R392W			P15289	ARSA_HUMAN	arylsulfatase A	390			R -> Q (in MLD; juvenile-onset).|R -> W (in MLD; late-infantile and juvenile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	TTTCCAGTCCGCACAGCAAAA	0.647000													4	175					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	64					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892615	219892615	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:219892615G>A	ENST00000341552.5	-	13	2051	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	CCDC108_ENST00000441968.1_Silent_p.V656V|CCDC108_ENST00000409865.3_Silent_p.V645V|CCDC108_ENST00000453220.1_Silent_p.V656V|CCDC108_ENST00000410037.1_Silent_p.V591V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	656						integral to membrane	structural molecule activity	p.V656V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTACCTCGACAGGCTCTA	0.617000													10	38					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95519013	95519013	+	RNA	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:95519013A>G	ENST00000432432.2	-	0	538					NR_040113.1																						TGCTCTCACTATACACAGCAT	0.438000													34	167					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273601	125273601	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:125273601T>C	ENST00000335302.5	+	1	521	c.521T>C	c.(520-522)aTc>aCc	p.I174T		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GCGAACACCATCCCCCATGTC	0.527000													3	161					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52981124	52981124	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:52981124C>A	ENST00000575882.1	+	2	467	c.114C>A	c.(112-114)atC>atA	p.I38I	TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000572405.1_Silent_p.I3I|TOM1L1_ENST00000572158.1_Silent_p.I38I|TOM1L1_ENST00000570371.1_Silent_p.I38I|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000445275.2_Silent_p.I38I|TOM1L1_ENST00000575333.1_Silent_p.I38I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	38	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCATGCACATCTGTGACATAA	0.428000													6	78					3.09899e-07	3.30558e-07	1	1	0
CHAF1B	8208	broad.mit.edu	37	21	37781087	37781087	+	Silent	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:37781087A>C	ENST00000314103.5	+	9	937	c.786A>C	c.(784-786)gtA>gtC	p.V262V		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGAAAATGTAATGAATACCA	0.398000													6	64					0	0	1	0	0
ASGR1	432	broad.mit.edu	37	17	7077348	7077348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7077348C>T	ENST00000574388.1	-	6	1308	c.516G>A	c.(514-516)tgG>tgA	p.W172*	ASGR1_ENST00000380920.4_Nonsense_Mutation_p.W110*|ASGR1_ENST00000269299.3_Nonsense_Mutation_p.W211*|ASGR1_ENST00000572879.1_Nonsense_Mutation_p.W71*			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	211	C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGAGGCCCATCCAGGTGTTCA	0.647000													12	67					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337022	22337022	+	RNA	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr14:22337022T>C	ENST00000390436.2	+	0	3																											CAATGACTGATCTTAATTGGG	0.443000													4	19					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604562	58604562	+	Missense_Mutation	SNP	T	T	C	rs140678694	by1000genomes	TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:58604562T>C	ENST00000287275.1	-	5	792	c.402A>G	c.(400-402)atA>atG	p.I134M	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.I134M	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	134						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GTAATTCCGGTATAAAGAGGA	0.388000													5	68					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988705	154988705	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:154988705G>T	ENST00000368426.3	+	4	1301	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K388N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K388N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K422N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	388					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.K388N(2)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAACGACAAGCTGAAGATCC	0.632000													43	74					7.34454e-26	8.39377e-26	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48575203	48575203	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr18:48575203T>A	ENST00000342988.3	+	3	935	c.397T>A	c.(397-399)Tac>Aac	p.Y133N	SMAD4_ENST00000588745.1_Missense_Mutation_p.Y133N|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y133N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y133N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	133	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCCATATCACTACGAACGAGT	0.348000													13	35					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88952449	88952449	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:88952449G>A	ENST00000268679.4	-	6	1209	c.813C>T	c.(811-813)gaC>gaT	p.D271D	CBFA2T3_ENST00000436887.2_Silent_p.D246D|CBFA2T3_ENST00000448839.1_Silent_p.D195D|CBFA2T3_ENST00000360302.2_Silent_p.D185D|CBFA2T3_ENST00000327483.5_Silent_p.D185D|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	271	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCGCTGGCGTCCAGCAGGA	0.657000			T	RUNX1	AML								2	3					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169502469	169502469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:169502469A>T	ENST00000349841.5	+	7	2206	c.1543A>T	c.(1543-1545)Aag>Tag	p.K515*	MYNN_ENST00000356716.4_Nonsense_Mutation_p.K515*|MYNN_ENST00000544106.1_Intron	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	515						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TAAAAATTTAAAGAAGCACAA	0.264000													3	20					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51675642	51675642	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:51675642G>T	ENST00000335449.6	+	3	481	c.425G>T	c.(424-426)gGa>gTa	p.G142V	GLDN_ENST00000396399.2_Missense_Mutation_p.G18V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	142	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGACCTTCTGGACCACCAGGT	0.502000											OREG0023124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	130					2.39187e-15	2.70596e-15	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158639226	158639226	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:158639226T>A	ENST00000368147.4	-	14	1985	c.1805A>T	c.(1804-1806)aAa>aTa	p.K602I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCAACTTTTTCTTCTTGTT	0.418000													94	189					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49423006	49423006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:49423006G>A	ENST00000388901.5	-	10	1028	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	COPS2_ENST00000542928.1_Nonsense_Mutation_p.Q255*|COPS2_ENST00000299259.6_Nonsense_Mutation_p.Q326*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	319	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATTATTCTGATAGGCACTA	0.303000													5	24					0	0	1	0	0
ZFAS1	441951	broad.mit.edu	37	20	47896941	47896941	+	RNA	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr20:47896941G>A	ENST00000450535.1	+	0	644				ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000428008.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000326677.5_RNA																							TGTCTGATATGCCAGCTTGAG	0.438000													12	20					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27444089	27444089	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:27444089T>G	ENST00000264705.4	+	3	388	c.226T>G	c.(226-228)Ttt>Gtt	p.F76V	CAD_ENST00000403525.1_Missense_Mutation_p.F76V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	76	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCTACAGTGGTTTGAATCCTC	0.532000													9	56					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473839	145473839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:145473839C>T	ENST00000323397.4	+	4	1804	c.511C>T	c.(511-513)Cct>Tct	p.P171S		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	171										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTGGAGGACCCTGCTCCCGC	0.627000													27	77					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371659	33371659	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:33371659A>G	ENST00000428849.2	+	6	959	c.509A>G	c.(508-510)cAg>cGg	p.Q170R		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	170					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTTCAGGACCAGCTCAGAGAT	0.557000													6	96					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000													3	44					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148904715	148904715	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148904715C>T	ENST00000261798.5	-	3	682	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.D84N|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.D84N|CSNK1A1_ENST00000504676.1_5'UTR	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	84	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACATTGTAGTCTTTTTCCTGA	0.358000													5	14					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828746	115828746	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:115828746C>T	ENST00000369512.2	-	3	839	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	224					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		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)	Clenbuterol(DB01407)	CGTATCTATCCGGATAAACCG	0.572000													7	89					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009072	57009072	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:57009072G>C	ENST00000179765.5	-	3	655	c.456C>G	c.(454-456)acC>acG	p.T152T	BAZ2A_ENST00000379441.3_Silent_p.T154T|BAZ2A_ENST00000549884.1_Silent_p.T152T|BAZ2A_ENST00000551812.1_Silent_p.T154T			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	154					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGGACTCTGGGTACCGTTGG	0.517000													11	31					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151271497	151271497	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:151271497A>C	ENST00000368875.2	-	10	2418	c.1838T>G	c.(1837-1839)cTt>cGt	p.L613R	PI4KB_ENST00000529142.1_Missense_Mutation_p.L269R|PI4KB_ENST00000368873.1_Missense_Mutation_p.L601R|PI4KB_ENST00000368874.4_Missense_Mutation_p.L586R|PI4KB_ENST00000368872.1_Missense_Mutation_p.L586R|PI4KB_ENST00000271657.5_Missense_Mutation_p.L613R	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	601	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAATCACAAGAATCTTGTA	0.468000													44	101					0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148753933	148753933	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148753933C>G	ENST00000261796.3	-	3	592	c.542G>C	c.(541-543)tGa>tCa	p.*181S	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	0					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGATTCAGAAGATGCA	0.617000													4	61					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039215	49039215	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:49039215A>T	ENST00000267163.4	+	22	2431	c.2293A>T	c.(2293-2295)Aaa>Taa	p.K765*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	765	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.K765*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGAGACTGAAAACAAATAT	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	20					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8012598	8012598	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:8012598A>C	ENST00000380149.1	-	11	1954	c.1924T>G	c.(1924-1926)Tac>Gac	p.Y642D	ALOXE3_ENST00000318227.3_Missense_Mutation_p.Y618D|ALOXE3_ENST00000448843.2_Missense_Mutation_p.Y486D			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	486	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						AAATTGGTGTAGGTGAAGTGG	0.657000													3	42					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180998	22180998	+	RNA	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr14:22180998C>G	ENST00000390424.2	+	0	280																											ATGAACGGTTCTCTTCATCGC	0.527000													5	106					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65871019	65871019	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:65871019A>G	ENST00000321892.4	+	4	1808	c.1747A>G	c.(1747-1749)Act>Gct	p.T583A	BPTF_ENST00000306378.6_Missense_Mutation_p.T583A|BPTF_ENST00000424123.3_Missense_Mutation_p.T444A|BPTF_ENST00000335221.5_Missense_Mutation_p.T583A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	583					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGAATGAGACTGAGAATGA	0.363000													6	45					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173916585	173916585	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:173916585T>A	ENST00000367696.2	-	15	3010	c.2659A>T	c.(2659-2661)Aaa>Taa	p.K887*	RC3H1_ENST00000258349.4_Nonsense_Mutation_p.K887*|RC3H1_ENST00000367694.2_Nonsense_Mutation_p.K887*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	887					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TATATAGTTTTGGAAGTTCGT	0.463000													8	80					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145527646	145527646	+	Missense_Mutation	SNP	A	A	G	rs140707071		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:145527646A>G	ENST00000369304.3	+	2	261	c.86A>G	c.(85-87)cAc>cGc	p.H29R	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Missense_Mutation_p.T4A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	29					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.H29P(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGAACATCACCCACGCCTA	0.527000													4	160					0	0	1	0	0
MIR34A	407040	broad.mit.edu	37	1	9211792	9211792	+	RNA	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:9211792C>T	ENST00000385130.1	-	0	44					NR_029610.1																						CTATTGCTCACAACAACCAGC	0.577000													50	273					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55690386	55690386	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:55690386C>A	ENST00000590851.1	-	1	372	c.188G>T	c.(187-189)cGg>cTg	p.R63L	SYT5_ENST00000354308.3_Silent_p.P8P|SYT5_ENST00000537500.1_Silent_p.P8P			O00445	SYT5_HUMAN	synaptotagmin V	0					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGGAGGCCCCGGGGTTGGGG	0.667000													5	14					3.09899e-07	3.30558e-07	1	1	0
CR1	1378	broad.mit.edu	37	1	207758216	207758216	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:207758216G>A	ENST00000367049.4	+	33	5525	c.5525G>A	c.(5524-5526)cGt>cAt	p.R1842H	CR1_ENST00000367051.1_Missense_Mutation_p.R1392H|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1392H|CR1_ENST00000367052.1_Missense_Mutation_p.R1392H|CR1_ENST00000367053.1_Missense_Mutation_p.R1392H	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1392	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1397H(3)|p.R1842H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTCTGTTCGTGCTGGTCAG	0.488000													16	160					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24492938	24492938	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:24492938G>C	ENST00000264463.4	-	10	2119	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	538	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTATCCTGTACTGTGAAG	0.348000										HNSCC(23;0.051)			5	114					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176584	176584	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:176584T>C	ENST00000538872.1	+	1	654	c.536T>C	c.(535-537)gTc>gCc	p.V179A	IQSEC3_ENST00000326261.4_Missense_Mutation_p.V179A			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	179					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCAAGGGCGTCCTGAGCAGG	0.657000													3	35					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110257779	110257779	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:110257779G>C	ENST00000369813.1	+	5	1266	c.361G>C	c.(361-363)Gat>Cat	p.D121H	GSTM5_ENST00000369812.5_Missense_Mutation_p.D181H|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.D162H			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	162	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTGCCTATGATGTCCTTGA	0.468000													8	114					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521026	33521026	+	Nonsense_Mutation	SNP	G	G	A	rs139972846		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:33521026G>A	ENST00000297307.5	-	1	386	c.301C>T	c.(301-303)Cga>Tga	p.R101*		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	101	DUF6 1.					integral to membrane											GCCCGGCTTCGGATGTCAGGA	0.607000													43	133					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4704288	4704288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:4704288C>T	ENST00000262960.9	-	6	732	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	DPP9_ENST00000594671.1_Missense_Mutation_p.R123Q|DPP9_ENST00000597849.1_Missense_Mutation_p.R152Q|DPP9_ENST00000598800.1_Missense_Mutation_p.R123Q	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	123					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCTCCTCCCGAGAGTAGAC	0.642000													14	78					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47884572	47884572	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:47884572G>A	ENST00000328771.4	+	16	3638	c.3289G>A	c.(3289-3291)Ggg>Agg	p.G1097R		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1097						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCACAGGATGGGCCCCCAGG	0.672000													10	36					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6251156	6251156	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:6251156A>T	ENST00000381434.3	+	3	247	c.234A>T	c.(232-234)agA>agT	p.R78S	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.R78S	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	78					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)		AGCACAAAAGACATCTGGTAC	0.478000													18	55					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:150530506delG	ENST00000271643.4	+	14	2499	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													7	248	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													9	464	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.A218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													8	264	---	---	---	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													7	50	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:141694361_141694363delTGC	ENST00000344120.4	-	3	566_568	c.380_382delGCA	c.(379-384)agcaca>aca	p.S127del	SPRY4_ENST00000434127.2_In_Frame_Del_p.S104del	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	104					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.660									Testicular Cancer, Familial Clustering of				8	212	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:36652009_36652010insG	ENST00000405375.1	+	2	366_367	c.131_132insG	c.(130-135)gaggccfs	p.A45fs	CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TGCATCCAGGAGGCCCGTGAGC	0.658													12	65	---	---	---	---					
ACTB	60	broad.mit.edu	37	7	5567428	5567429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:5567428_5567429insG	ENST00000331789.5	-	6	1269_1270	c.1078_1079insC	c.(1078-1080)cagfs	p.Q360fs	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	360					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTCATACTCCTGCTTGCTGATC	0.550													27	351	---	---	---	---					
ZNF703	80139	broad.mit.edu	37	8	37553556	37553558	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:37553556_37553558delGCG	ENST00000331569.4	+	1	288_290	c.59_61delGCG	c.(58-63)agcggc>agc	p.G24del		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	24	Poly-Gly.				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			ggcagcggcagcggcggcggcgg	0.739													2	4	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													3	3	---	---	---	---					
RP11-141M1.3	0	broad.mit.edu	37	13	33942665	33942667	+	RNA	DEL	CAG	CAG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:33942665_33942667delCAG	ENST00000454681.2	-	0	308																											TAGCAAGAAAcagcagcagcagc	0.419													3	3	---	---	---	---					
KIF1C	10749	broad.mit.edu	37	17	4905382	4905382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:4905382delG	ENST00000320785.5	+	6	749	c.392delG	c.(391-393)agtfs	p.S131fs		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	131	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTCGCGTTAGTGAGAACCAG	0.582													33	115	---	---	---	---					
MIEF2	125170	broad.mit.edu	37	17	18167412	18167412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:18167412delC	ENST00000323019.4	+	4	910	c.699delC	c.(697-699)tgcfs	p.C233fs	MIEF2_ENST00000395706.2_Frame_Shift_Del_p.C244fs|MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2			mitochondrial elongation factor 2	233																	TTGAGTTCTGCCCCCGTGGGA	0.706													2	4	---	---	---	---					
