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
HAP1	9001	broad.mit.edu	37	17	39883363	39883363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:39883363C>A	ENST00000393939.2	-	8	1243	c.1234G>T	c.(1234-1236)Gag>Tag	p.E412*	HAP1_ENST00000347901.4_Nonsense_Mutation_p.E437*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Nonsense_Mutation_p.E420*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.E489*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	414	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGAGCTCCTCAGCCAGCGTC	0.577000													3	10					0.004672	0.00474129	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120833065	120833065	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:120833065C>G	ENST00000263713.5	+	6	635	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	EPB41L5_ENST00000443902.2_Missense_Mutation_p.L141V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L141V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L141V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.L141V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	141	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.L141I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTTATTTGTTCTTCAGTTAAA	0.284000													14	24					0	0	1	0	0
PPA1	5464	broad.mit.edu	37	10	71978536	71978536	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:71978536G>C	ENST00000373232.3	-	3	260	c.161C>G	c.(160-162)tCt>tGt	p.S54C	PPA1_ENST00000495346.1_5'UTR|PPA1_ENST00000608321.1_Missense_Mutation_p.S54C	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1						diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						TTTTGCATTAGACCAGCGTGG	0.403000													12	16					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219129789	219129789	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219129789C>G	ENST00000248450.4	-	10	1353	c.1183G>C	c.(1183-1185)Gac>Cac	p.D395H	AAMP_ENST00000444053.1_Missense_Mutation_p.D396H|AAMP_ENST00000420660.1_Missense_Mutation_p.D376H			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	395					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGTAGTCAGTAAGCAGG	0.607000													33	156					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15338451	15338451	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:15338451C>G	ENST00000221730.3	-	7	1100	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	EPHX3_ENST00000602233.1_Missense_Mutation_p.E294Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.E294Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	294						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGGTCAGCTCCTGGGGTTCC	0.627000													7	39					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26437925	26437925	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:26437925C>G	ENST00000380649.3	-	8	925	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	HADHA_ENST00000457468.2_Missense_Mutation_p.E179Q	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	266					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TACTCACTTTCCACCAATCCC	0.358000													74	146					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153690793	153690793	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:153690793T>C	ENST00000304337.2	-	2	2184	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	455					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATCCTCTTCATCAGAAGTGTA	0.398000													19	52					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27258520	27258520	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:27258520G>A	ENST00000238788.9	+	4	623	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGCTGCTGGCGAAGGCAGCAG	0.562000													48	98					0	0	1	0	0
NSG1	27065	broad.mit.edu	37	4	4419001	4419001	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:4419001G>A	ENST00000421177.2	+	9	2388	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	NSG1_ENST00000433139.2_Missense_Mutation_p.A133T|STX18_ENST00000505286.1_Intron|NSG1_ENST00000505246.1_Missense_Mutation_p.A133T|NSG1_ENST00000513555.1_Missense_Mutation_p.A133T|NSG1_ENST00000504171.1_Missense_Mutation_p.A94T|NSG1_ENST00000397958.1_Missense_Mutation_p.A133T|NSG1_ENST00000506380.1_Missense_Mutation_p.A133T																							GAGCTACTACGCGGAGCAAGA	0.567000													20	108					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36445432	36445432	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:36445432G>A	ENST00000255448.4	-	5	1080	c.869C>T	c.(868-870)tCa>tTa	p.S290L	DCLK1_ENST00000379892.4_Missense_Mutation_p.S290L|DCLK1_ENST00000360631.3_Missense_Mutation_p.S290L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	290	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTGCGGGATGATGAAGCTAT	0.507000													75	106					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155204	106155204	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:106155204G>A	ENST00000540549.1	+	3	965	c.105G>A	c.(103-105)caG>caA	p.Q35Q	TET2_ENST00000413648.2_Silent_p.Q35Q|TET2_ENST00000394764.1_Silent_p.Q35Q|TET2_ENST00000305737.2_Silent_p.Q35Q|TET2_ENST00000545826.1_Silent_p.Q35Q|TET2_ENST00000380013.4_Silent_p.Q35Q|TET2_ENST00000513237.1_Silent_p.Q56Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	35					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAAGCTCCAGAATGGAAGCC	0.463000			"""Mis N, F"""		MDS								15	43					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744470	25744470	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:25744470C>G	ENST00000357816.2	-	3	1406	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	AMER2_ENST00000515384.1_Missense_Mutation_p.E430Q|AMER2_ENST00000381853.3_Missense_Mutation_p.E311Q					APC membrane recruitment protein 2																		TCGTCCACCTCGTCCGGGCTG	0.652000													9	22					0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24857725	24857725	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:24857725C>G	ENST00000374395.4	+	3	526	c.213C>G	c.(211-213)ctC>ctG	p.L71L	RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Silent_p.L71L|RCAN3_ENST00000412742.2_Silent_p.L71L	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	71					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TTGAAGCACTCTTCACCATCT	0.388000													14	171					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464306	17464306	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:17464306T>A	ENST00000302539.4	-	10	1716	c.1591A>T	c.(1591-1593)Acc>Tcc	p.T531S	ABCC8_ENST00000389817.3_Missense_Mutation_p.T531S|ABCC8_ENST00000528202.1_5'UTR	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	531	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGAGGCTGGTCATCTCCTTC	0.607000													13	65					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130887585	130887585	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:130887585C>G	ENST00000338961.6	-	2	1159	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	PTGES2_ENST00000277462.5_5'UTR|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	139	Glutaredoxin.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						AACTTGATCTCAGCCCTGCGC	0.602000													18	8					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174247872	174247872	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:174247872C>G	ENST00000251507.4	+	10	1452	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.F389L|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.F73L	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	426					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTGGTATTTCAGCAGAAAGA	0.423000													148	320					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133420656	133420656	+	Silent	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:133420656C>A	ENST00000266880.7	-	17	1896	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L	CHFR_ENST00000432561.2_Silent_p.L612L|CHFR_ENST00000450056.2_Silent_p.L600L|CHFR_ENST00000315585.7_Silent_p.L571L|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000541341.1_Silent_p.L39L|CHFR_ENST00000443047.2_Silent_p.L520L|CHFR_ENST00000537522.1_Silent_p.L234L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	612					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ACTGATAGGTCAGCTCACGGA	0.542000													28	31					1.80694e-10	1.91065e-10	1	1	0
OXCT1	5019	broad.mit.edu	37	5	41840601	41840601	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:41840601C>T	ENST00000196371.5	-	7	844	c.684G>A	c.(682-684)agG>agA	p.R228R	OXCT1_ENST00000509987.1_Silent_p.R42R	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	228					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AGTTGAAATTCCTTGCACTTT	0.373000													34	177					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203826043	203826043	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:203826043G>A	ENST00000402905.3	+	8	1047	c.726G>A	c.(724-726)caG>caA	p.Q242Q	CARF_ENST00000471271.1_Intron|CARF_ENST00000545253.1_Silent_p.Q154Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Silent_p.Q166Q|CARF_ENST00000444724.1_Silent_p.Q242Q|CARF_ENST00000414439.1_Silent_p.Q140Q|CARF_ENST00000434998.1_Silent_p.Q140Q|CARF_ENST00000438828.2_Silent_p.Q242Q|CARF_ENST00000320443.8_Silent_p.Q242Q|CARF_ENST00000456821.2_Intron|CARF_ENST00000428585.1_Silent_p.Q166Q	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		AGCAAACACAGAGTGTTTGGG	0.448000													20	41					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25585264	25585264	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:25585264C>T	ENST00000232165.3	-	12	3122	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	UBE3A_ENST00000428984.2_Missense_Mutation_p.M802I|UBE3A_ENST00000397954.2_Missense_Mutation_p.M825I|UBE3A_ENST00000566215.1_Missense_Mutation_p.M802I|UBE3A_ENST00000438097.1_Missense_Mutation_p.M802I|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	825	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGGCTATAATCATCTTTAATT	0.393000													22	88					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178256885	178256885	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:178256885G>C	ENST00000264596.3	+	3	440	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	108					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TAATCCACTTGAGTATAAATA	0.328000								Base excision repair (BER), DNA glycosylases					28	51					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134960	203134960	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:203134960G>A	ENST00000367236.4	+	3	1834	c.913G>A	c.(913-915)Gac>Aac	p.D305N	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.D305N|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.D305N	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	305					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GATTTGGAATGACCATTTCCG	0.572000													16	38					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088814	43088814	+	Nonsense_Mutation	SNP	A	A	T	rs149558146	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:43088814A>T	ENST00000359467.3	-	5	1698	c.1584T>A	c.(1582-1584)taT>taA	p.Y528*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	528						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TCCCACATTCATAACATTCAT	0.413000													49	104					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57262920	57262920	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:57262920G>A	ENST00000262293.4	+	4	711	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	133										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGGAAGCACTGAAGGTTGGTA	0.363000													14	65					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005604	42005604	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:42005604G>A	ENST00000395925.3	-	15	3151	c.3067C>T	c.(3067-3069)Cgc>Tgc	p.R1023C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1023					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTGAAGCGCGGCACACGA	0.731000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	22					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814433	64814433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:64814433G>A	ENST00000396679.1	-	11	893	c.679C>T	c.(679-681)Cca>Tca	p.P227S	CENPK_ENST00000514814.1_Missense_Mutation_p.P227S|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000510693.1_Missense_Mutation_p.P164S|CENPK_ENST00000242872.3_Missense_Mutation_p.P227S|CENPK_ENST00000508421.1_Missense_Mutation_p.P197S	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	227					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GGATCATGTGGAACATCAAAT	0.333000													13	57					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27447627	27447627	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:27447627G>A	ENST00000264705.4	+	10	1431	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	CAD_ENST00000403525.1_Silent_p.L423L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	423	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'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)	TTAAGGCCCTGAAGGAGGAAA	0.483000													43	212					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414109	20414109	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:20414109C>G	ENST00000380338.4	-	5	1021	c.735G>C	c.(733-735)gaG>gaC	p.E245D	MLLT3_ENST00000429426.2_Missense_Mutation_p.E242D|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GAACTATTTTCTCTTCTTTCA	0.388000			T	MLL	ALL								65	210					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005585	42005585	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:42005585C>T	ENST00000395925.3	-	15	3170	c.3086G>A	c.(3085-3087)aGc>aAc	p.S1029N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1029					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGTTGCAGCTGCTGAGGCT	0.711000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				5	25					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4127384	4127384	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:4127384G>C	ENST00000300738.5	+	3	421	c.217G>C	c.(217-219)Gac>Cac	p.D73H	RRM1_ENST00000423050.2_Intron	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	73	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAGCACCCTGACTATGCTAT	0.448000													18	41					0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117175649	117175649	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:117175649G>A	ENST00000536380.1	-	1	225	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	C12orf49_ENST00000261318.3_Silent_p.L19L			Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	0						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		AGACCAGGGCGAGCACCCACC	0.697000													7	30					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:26225674G>A	ENST00000360408.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	88					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48266924	48266924	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:48266924C>G	ENST00000435803.1	+	6	558	c.534C>G	c.(532-534)atC>atG	p.I178M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	178					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCCTCATATCTGGGATTTTC	0.428000													32	135					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36728021	36728021	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36728021C>G	ENST00000456324.1	+	3	2128	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.L227V	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	227	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	p.L227F(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAGCTCATCTCTCACTGTGCA	0.443000													21	154					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177058703	177058703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:177058703C>T	ENST00000393643.2	+	9	1552	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.R441*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.R434*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.R458*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	458										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGGAACTTCCCGAAATGGTGC	0.279000													13	42					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230656630	230656630	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:230656630C>A	ENST00000283943.5	-	28	4320	c.4142G>T	c.(4141-4143)aGc>aTc	p.S1381I	TRIP12_ENST00000389044.4_Missense_Mutation_p.S1429I|TRIP12_ENST00000389045.3_Missense_Mutation_p.S1111I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1381					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGAGGATTGCTCTCATCATC	0.383000													40	218					6.21074e-16	6.76124e-16	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90160948	90160948	+	RNA	SNP	G	G	A	rs8049119	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:90160948G>A	ENST00000567960.1	+	0	178				TUBB8P7_ENST00000564451.1_RNA																							TGGCAGGTACGTGCCTCGCGC	0.711000													3	29					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127414265	127414265	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:127414265G>T	ENST00000337623.3	+	6	755	c.650G>T	c.(649-651)gGa>gTa	p.G217V	C10orf137_ENST00000356792.4_Missense_Mutation_p.G217V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGGTGATGGAGCCGCTCAG	0.453000													12	38					9.31168e-06	9.6127e-06	1	1	0
OFD1	8481	broad.mit.edu	37	X	13780470	13780470	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:13780470C>G	ENST00000380567.1	+	19	2847	c.1975C>G	c.(1975-1977)Cga>Gga	p.R659G	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R759G|OFD1_ENST00000340096.6_Missense_Mutation_p.R799G			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	799	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TAGTCTTTATCGAAGACAAAC	0.343000													24	64					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224463499	224463499	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:224463499G>A	ENST00000305409.2	-	2	734	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	168					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P168S(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCATACATAGGAGGGAATTGC	0.403000													36	165					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33272134	33272134	+	Silent	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:33272134T>A	ENST00000373477.4	-	4	1367	c.459A>T	c.(457-459)gtA>gtT	p.V153V		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	153			Missing (in CMTDIC).		apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCACCTGCTTTACCACCTCAG	0.542000													29	141					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29940524	29940524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29940524G>C	ENST00000490103.1	-	3	287	c.165C>G	c.(163-165)taC>taG	p.Y55*	THOC5_ENST00000397872.1_Nonsense_Mutation_p.Y55*|THOC5_ENST00000397871.1_Nonsense_Mutation_p.Y55*|THOC5_ENST00000397873.2_Nonsense_Mutation_p.Y55*	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	55	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTGTACTTGTATAACTCAT	0.542000													29	113					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52939153	52939153	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:52939153C>G	ENST00000394752.3	-	21	2982	c.2600G>C	c.(2599-2601)tGa>tCa	p.*867S	SFMBT1_ENST00000296295.6_Nonstop_Mutation_p.*824S|SFMBT1_ENST00000358080.2_Nonstop_Mutation_p.*867S|SFMBT1_ENST00000394750.1_Nonstop_Mutation_p.*867S	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	0					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTGTCCTTCTCAGTTGGCAAA	0.453000													59	39					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412290	63412290	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63412290C>T	ENST00000330258.3	-	2	1149	c.877G>A	c.(877-879)Gta>Ata	p.V293I	AMER1_ENST00000403336.1_Missense_Mutation_p.V293I|AMER1_ENST00000374869.3_Missense_Mutation_p.V293I	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CCTGCTACTACCTTCTCCCCT	0.557000													46	103					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601887	38601887	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:38601887C>T	ENST00000413689.1	-	23	4189	c.3996G>A	c.(3994-3996)ccG>ccA	p.P1332P	SCN5A_ENST00000443581.1_Silent_p.P1331P|SCN5A_ENST00000425664.1_Silent_p.P1332P|SCN5A_ENST00000450102.2_Silent_p.P1278P|SCN5A_ENST00000451551.2_Silent_p.P1278P|SCN5A_ENST00000423572.2_Silent_p.P1331P|SCN5A_ENST00000455624.2_Silent_p.P1331P|SCN5A_ENST00000449557.2_Silent_p.P1278P|SCN5A_ENST00000333535.4_Silent_p.P1332P|SCN5A_ENST00000414099.2_Silent_p.P1332P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1332			P -> L (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCATGATGGACGGGATGGCGC	0.582000													17	44					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11185604	11185604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:11185604G>A	ENST00000379446.5	-	7	2462	c.2296C>T	c.(2296-2298)Cag>Tag	p.Q766*	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q766*	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	766					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCAGTCACCTGCCGTGTCAGC	0.557000													30	329					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1685647	1685647	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:1685647C>T	ENST00000344463.4	-	12	1600	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	NADK_ENST00000341991.3_Splice_Site_p.G315E|NADK_ENST00000342348.5_Splice_Site_p.G283E|NADK_ENST00000341426.5_Splice_Site_p.G315E|NADK_ENST00000378625.1_Splice_Site_p.G460E			O95544	NADK_HUMAN	NAD kinase	315					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CACGATCACTCCTGACAGGGA	0.701000													25	37					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170502386	170502386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:170502386G>A	ENST00000447353.1	-	9	1729	c.1624C>T	c.(1624-1626)Caa>Taa	p.Q542*		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TTTGACTTTTGAAAATTATAT	0.348000													19	58					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961687	34961687	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:34961687C>G	ENST00000329357.5	+	1	775	c.739C>G	c.(739-741)Ctc>Gtc	p.L247V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	247	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCATCTCATCTCCGCGTGGA	0.627000													25	63					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906649	153906649	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153906649C>T	ENST00000361217.4	-	19	3321	c.2903G>A	c.(2902-2904)cGa>cAa	p.R968Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	968										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTGCCCCTCGGGCACTGCC	0.642000													4	10					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673740	186673740	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:186673740G>C	ENST00000343098.5	+	17	19974	c.19974G>C	c.(19972-19974)ctG>ctC	p.L6658L	FSIP2_ENST00000424728.1_Silent_p.L6569L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAGCAGAACTGAGAAGAGCAT	0.368000													18	69					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22558291	22558291	+	RNA	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:22558291C>T	ENST00000550753.1	+	0	1273					NR_003676.2																						TAGACTCCCTCAGCACTGGAC	0.443000													13	83					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150482377	150482377	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:150482377C>T	ENST00000369049.4	+	4	418	c.284C>T	c.(283-285)tCa>tTa	p.S95L	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369047.4_Intron	NM_001202858.1	NP_001189787.1	Q16610	ECM1_HUMAN	extracellular matrix protein 1	74					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGGGCTGCTCACACATTCCC	0.577000													41	179					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94027918	94027918	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:94027918C>G	ENST00000370244.1	-	14	2646	c.2358G>C	c.(2356-2358)ttG>ttC	p.L786F	BCAR3_ENST00000370243.1_Missense_Mutation_p.L786F|BCAR3_ENST00000260502.6_Missense_Mutation_p.L786F|BCAR3_ENST00000370247.3_Missense_Mutation_p.L695F|BCAR3_ENST00000539242.1_Missense_Mutation_p.L462F	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	786	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGCCCCATAGCAATCGCATTT	0.388000													74	72					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411969	63411969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63411969C>A	ENST00000330258.3	-	2	1470	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.E400*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.E400*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									tcttcttcctcctccttaacc	0.512000													18	42					2.35188e-11	2.49237e-11	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57828035	57828035	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:57828035C>G	ENST00000371030.2	+	4	4030	c.4030C>G	c.(4030-4032)Ctg>Gtg	p.L1344V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1344						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTTGCAGGTCTGAATCTGCA	0.458000													25	57					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71374675	71374675	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:71374675C>G	ENST00000304743.2	+	1	554	c.108C>G	c.(106-108)ctC>ctG	p.L36L	PCNX_ENST00000238570.5_Silent_p.L36L|PCNX_ENST00000439984.3_Silent_p.L36L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	36						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGCTGCACCTCTACCTGTGGC	0.687000													6	12					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348232	103348232	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:103348232C>T	ENST00000307584.5	+	2	659	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	198					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTGATAATATCAAGAAGGCAT	0.423000													72	39					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088815	43088815	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:43088815T>A	ENST00000359467.3	-	5	1697	c.1583A>T	c.(1582-1584)tAt>tTt	p.Y528F	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	528						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCCACATTCATAACATTCATA	0.413000													48	104					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29092917	29092917	+	Nonsense_Mutation	SNP	G	G	T	rs121908703		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29092917G>T	ENST00000544772.1	-	11	1840	c.404C>A	c.(403-405)tCa>tAa	p.S135*	CHEK2_ENST00000382580.2_Nonsense_Mutation_p.S399*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.S356*|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000405598.1_Nonsense_Mutation_p.S356*|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.S265*|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.S265*|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.S356*|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000402731.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	356	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTTGAGATGACAGTAAAAC	0.378000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					14	38					1.36491e-13	1.4659e-13	1	1	0
HUNK	30811	broad.mit.edu	37	21	33296930	33296930	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:33296930C>T	ENST00000270112.2	+	2	772	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	138	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGCTACTACCTGGTCATGGA	0.532000													42	150					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150097924	150097924	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:150097924G>C	ENST00000447998.2	-	11	1100	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	DCTN4_ENST00000424236.1_Missense_Mutation_p.L272V|DCTN4_ENST00000446090.2_Missense_Mutation_p.L336V	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	329						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATTTGTAAGAGTCAGGAGG	0.468000													26	19					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1902964	1902964	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:1902964C>G	ENST00000503128.1	+	2	790	c.583C>G	c.(583-585)Cct>Gct	p.P195A	WHSC1_ENST00000382895.3_Missense_Mutation_p.P195A|WHSC1_ENST00000514045.1_Missense_Mutation_p.P195A|WHSC1_ENST00000508803.1_Missense_Mutation_p.P195A|WHSC1_ENST00000436793.1_Missense_Mutation_p.P195A|WHSC1_ENST00000398261.1_Missense_Mutation_p.P195A|WHSC1_ENST00000382892.2_Missense_Mutation_p.P195A|WHSC1_ENST00000420906.2_Missense_Mutation_p.P195A|WHSC1_ENST00000382891.5_Missense_Mutation_p.P195A			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	195					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GATCTCAAGTCCTTCAGATAA	0.493000			T	IGH@	MM								8	62					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105942272	105942272	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:105942272C>T	ENST00000357060.3	-	17	2257		c.e17-1		WDR96_ENST00000428666.1_Splice_Site|WDR96_ENST00000278064.2_Splice_Site	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96											NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAAATCGCCTATATTAATA	0.323000													10	37					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14949871	14949871	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:14949871C>T	ENST00000261167.2	-	5	490	c.257G>A	c.(256-258)cGt>cAt	p.R86H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	86					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AAAGGTTTCACGCAGCTTTTT	0.338000													24	98					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160141236	160141236	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:160141236G>A	ENST00000357388.3	+	14	2494	c.2043G>A	c.(2041-2043)atG>atA	p.M681I	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.M681I|SMC4_ENST00000469762.1_Missense_Mutation_p.M656I|SMC4_ENST00000344722.5_Missense_Mutation_p.M681I|SMC4_ENST00000360111.2_Missense_Mutation_p.M681I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	681	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGAAAAAGATGACCGAAATTC	0.284000													73	116					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902260	54902260	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:54902260C>T	ENST00000293373.6	+	5	530	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R101W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	151					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GATTGAAGATCGGCGGATACT	0.423000													136	259					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5353241	5353241	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:5353241G>C	ENST00000399537.4	-	27	7629	c.7281C>G	c.(7279-7281)ctC>ctG	p.L2427L	TNRC18_ENST00000430969.1_Silent_p.L2427L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2427	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCATGGTGATGAGGGGTGCTG	0.721000													13	13					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140353	3140353	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:3140353C>T	ENST00000252463.2	-	5	1004	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R224H|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	306					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCCTTCAGGCGAGACAGCTG	0.642000													19	60					0	0	1	0	0
RPA3	6119	broad.mit.edu	37	7	7676707	7676707	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:7676707C>G	ENST00000223129.4	-	8	1461	c.290G>C	c.(289-291)gGa>gCa	p.G97A	RPA3_ENST00000396682.2_Missense_Mutation_p.G97A|RPA3_ENST00000401447.1_Missense_Mutation_p.G58A|RPA3_ENST00000406109.1_Missense_Mutation_p.G58A	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	97					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		ATTGTAAAGTCCAAGATCTGA	0.303000								Direct reversal of damage;Nucleotide excision repair (NER)					29	211					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706766	96706766	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:96706766G>A	ENST00000389672.5	+	3	1081	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	EPHA6_ENST00000542517.1_Missense_Mutation_p.G254E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G348E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	253	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGAGCTGATGGAGATTGGCTG	0.428000													75	69					0	0	1	0	0
UCHL3	7347	broad.mit.edu	37	13	76124114	76124114	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:76124114C>T	ENST00000377595.3	+	2	75	c.45C>T	c.(43-45)gtC>gtT	p.V15V	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	15					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GTTTTCAGGTCACCAACCAGG	0.622000											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	119					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348659	216348659	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:216348659C>T	ENST00000366943.2	-	21	4948	c.4562G>A	c.(4561-4563)cGt>cAt	p.R1521H	USH2A_ENST00000307340.3_Missense_Mutation_p.R1521H|USH2A_ENST00000366942.3_Missense_Mutation_p.R1521H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1521	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTATGAAACGGATTCCTTT	0.428000										HNSCC(13;0.011)			17	48					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80200075	80200075	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:80200075G>C	ENST00000450142.2	-	13	1960	c.1694C>G	c.(1693-1695)tCt>tGt	p.S565C	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S565C|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S478C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S565C|AC073569.1_ENST00000598624.1_Intron	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	565	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TGGAACACTAGAACTAATCAA	0.388000													50	281					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016342	132016342	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:132016342C>A	ENST00000374786.1	+	2	813	c.334C>A	c.(334-336)Cct>Act	p.P112T	NTM_ENST00000425719.2_Missense_Mutation_p.P112T|NTM_ENST00000427481.2_Missense_Mutation_p.P103T|NTM_ENST00000374791.3_Missense_Mutation_p.P112T|NTM_ENST00000374784.1_Missense_Mutation_p.P112T|NTM_ENST00000539799.1_Missense_Mutation_p.P112T	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGACGAGGGCCCTTACACCTG	0.577000													12	88					1.49906e-05	1.54419e-05	1	1	0
CELF6	60677	broad.mit.edu	37	15	72608198	72608198	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:72608198C>T	ENST00000287202.5	-	2	587	c.333G>A	c.(331-333)aaG>aaA	p.K111K	CELF6_ENST00000567083.1_Silent_p.K111K|CELF6_ENST00000569547.1_Silent_p.K111K|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	111	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTGGCAGGGTCTTCTGCTCGT	0.637000													3	7					0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99948418	99948418	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:99948418C>G	ENST00000376414.4	-	2	66		c.e2-1		UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183						humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GTCCAGGTGTCTAGAAAAAAA	0.358000													24	60					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338102	13338102	+	RNA	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:13338102C>G	ENST00000602906.1	+	0	123																				kidney(3)|lung(1)	4						CTTTTCTTTTCAAGATGCCTG	0.488000													13	38					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000730	14000730	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:14000730C>G	ENST00000454313.1	-	6	997	c.939G>C	c.(937-939)caG>caC	p.Q313H	C19orf57_ENST00000346736.2_Missense_Mutation_p.Q313H|C19orf57_ENST00000586783.1_Missense_Mutation_p.Q313H|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	313					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCTGGGGGTCTGCTGGGGGT	0.657000													15	21					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128520696	128520696	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:128520696C>G	ENST00000322313.4	-	7	822	c.664G>C	c.(664-666)Gat>Cat	p.D222H	WDR33_ENST00000409658.3_3'UTR|WDR33_ENST00000393006.1_Missense_Mutation_p.D222H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	222					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGCCGTCATCAGAGCATGTA	0.408000													25	105					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100130048	100130048	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:100130048C>G	ENST00000394897.1	-	6	687	c.605G>C	c.(604-606)gGa>gCa	p.G202A	ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.G202A|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.G202A			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	202					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GCCGACTCCTCCCAGGCCAAA	0.458000													53	253					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885116	13885116	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:13885116G>A	ENST00000265104.4	-	19	3069	c.2965C>T	c.(2965-2967)Cac>Tac	p.H989Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	989	Stem (By similarity).				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)					TTAATTGTGTGAGAGGAATGA	0.448000									Kartagener syndrome				31	132					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171506532	171506532	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:171506532G>A	ENST00000367742.3	+	15	2666	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	PRRC2C_ENST00000392078.3_Silent_p.L808L|PRRC2C_ENST00000338920.4_Silent_p.L806L|PRRC2C_ENST00000426496.2_Silent_p.L806L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	806							protein C-terminus binding										CTCGTATGCTGTGGGGGTCAG	0.458000													5	31					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507766	28507766	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:28507766G>C	ENST00000564831.1	+	2	1437	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	APOBR_ENST00000431282.1_Missense_Mutation_p.K459N|APOBR_ENST00000328423.5_Missense_Mutation_p.K459N	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	459	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGCGTGGTAAGGAGGCTGAGA	0.642000													3	23					0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33058581	33058581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:33058581C>T	ENST00000373510.4	+	3	278	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	ZBTB8A_ENST00000316459.4_Nonsense_Mutation_p.Q17*|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ACTGAACGAGCAGCGCAGGCA	0.418000													25	36					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													7	28					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48805803	48805803	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:48805803G>A	ENST00000314191.2	-	32	3797	c.3741C>T	c.(3739-3741)ttC>ttT	p.F1247F	PRKDC_ENST00000338368.3_Silent_p.F1247F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1248					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGCAGGCTGAATGGCCCCC	0.617000								Non-homologous end-joining					5	26					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	64961111	64961111	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:64961111C>T	ENST00000262138.3	+	1	86	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	28					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.I28I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCATCGCCATCGGCACCGACT	0.697000													8	21					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187514604	187514604	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:187514604C>G	ENST00000261023.3	+	14	1663	c.1389C>G	c.(1387-1389)atC>atG	p.I463M	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.I427M|ITGAV_ENST00000433736.2_Missense_Mutation_p.I417M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	463					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATCGAGCTATCTTATACAGGT	0.289000													6	49					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34685411	34685411	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:34685411G>A	ENST00000544216.3	+	2	227	c.150G>A	c.(148-150)ccG>ccA	p.P50P	LSM14A_ENST00000540746.2_Silent_p.P50P|LSM14A_ENST00000433627.5_Silent_p.P50P	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	50					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGACAGACCGACAGATCGTC	0.423000													35	197					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89809308	89809308	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:89809308G>A	ENST00000389301.3	-	37	3695	c.3665C>T	c.(3664-3666)cCg>cTg	p.P1222L	FANCA_ENST00000568369.1_Missense_Mutation_p.P1222L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1222					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGCCAGTCCGGGTTGGGTGC	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	31					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889867	55889867	+	Missense_Mutation	SNP	G	G	A	rs148197076		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:55889867G>A	ENST00000313472.3	+	1	19	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	7					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)					TAGAAGGAATGACACAAATGT	0.458000													45	187					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857275	9857275	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:9857275G>A	ENST00000396573.2	-	14	4435	c.4126C>T	c.(4126-4128)Cgc>Tgc	p.R1376C	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1376C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1376C|GRIN2A_ENST00000404927.2_Silent_p.N1261N|GRIN2A_ENST00000562109.1_Silent_p.N1261N|GRIN2A_ENST00000535259.1_Silent_p.N1104N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1376					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1376S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATAACCAAGCGTTGGTCATCC	0.562000													13	80					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43580948	43580948	+	RNA	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:43580948C>G	ENST00000253803.2	+	0	267																											ttcaccacctctagcccctcc	0.433000													11	7					0	0	1	0	0
H1FX	8971	broad.mit.edu	37	3	129034635	129034635	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:129034635C>G	ENST00000333762.4	-	1	485	c.111G>C	c.(109-111)aaG>aaC	p.K37N	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	37					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						TCTTGCTATTCTTCCTCTTCT	0.622000													3	9					0	0	1	0	0
MIR494	574452	broad.mit.edu	37	14	101495970	101495970	+	RNA	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:101495970C>T	ENST00000349529.2	+	0	0					NR_030174.1																						TGCTAATCTTCGATACTCGAA	0.413000													4	40					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172410895	172410895	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:172410895C>T	ENST00000367728.1	-	1	2331	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.E290K|PIGC_ENST00000344529.4_Missense_Mutation_p.E290K|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	290					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GACAAGTCTTCCTTGATTTCA	0.388000													49	543					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179471896	179471896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:179471896C>T	ENST00000589042.1	-	278	53657	c.53433G>A	c.(53431-53433)tgG>tgA	p.W17811*	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8871*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8746*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16170*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8938*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15243*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16170	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTGTCTCCAAGTATGCA	0.393000													32	175					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169122827	169122827	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:169122827C>G	ENST00000256935.8	+	10	944	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	288					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAAGACCTCAACAGGGATA	0.433000													18	83					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70963557	70963557	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:70963557C>G	ENST00000334414.6	-	14	3576	c.3532G>C	c.(3532-3534)Gag>Cag	p.E1178Q	PTPRB_ENST00000261266.5_Missense_Mutation_p.E960Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.E960Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1177Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.E870Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1090Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.E870Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	960	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACGTGTGCTCAAAGACGTGC	0.542000													19	58					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156521553	156521553	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:156521553G>A	ENST00000361170.2	-	15	1688	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	560					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCGACAGGGAGGCTGACA	0.572000													25	49					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42143103	42143103	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:42143103G>A	ENST00000320955.6	-	66	11097	c.10870C>T	c.(10870-10872)Ccg>Tcg	p.P3624S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3624	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTTCGGACGGTGCTGCAAAC	0.682000													7	7					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29297062	29297062	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:29297062C>G	ENST00000331664.5	-	1	65	c.66G>C	c.(64-66)ttG>ttC	p.L22F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	22					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGGCTTTTTCAAGAACTGAA	0.493000													15	100					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21599258	21599258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:21599258G>T	ENST00000328843.6	+	4	761	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.E244*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	244	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATGCAATTGAATCTGTGGT	0.338000									Kartagener syndrome				25	34					6.32553e-13	6.74817e-13	1	1	0
IRF9	10379	broad.mit.edu	37	14	24635333	24635333	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:24635333G>A	ENST00000396864.3	+	9	1397	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.G311R	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	370					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAATACAGATGGAGCAGGCCT	0.592000													13	23					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130887694	130887694	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:130887694C>T	ENST00000338961.6	-	2	1050	c.306G>A	c.(304-306)ctG>ctA	p.L102L	PTGES2_ENST00000277462.5_5'UTR|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	102	Glutaredoxin.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						GGTACAGGGTCAGCTGCAGGC	0.637000													35	23					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679343	219679343	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219679343C>T	ENST00000258415.4	+	8	1766	c.1339C>T	c.(1339-1341)Cac>Tac	p.H447Y		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	447					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTTCCAGCCCCACCGCTGGCT	0.607000													10	65					0	0	1	0	0
ACP2	53	broad.mit.edu	37	11	47267305	47267305	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:47267305C>T	ENST00000256997.3	-	4	494	c.378G>A	c.(376-378)ggG>ggA	p.G126G	ACP2_ENST00000527256.1_Silent_p.G94G|ACP2_ENST00000529444.1_Silent_p.G126G|ACP2_ENST00000533929.1_Silent_p.G98G|ACP2_ENST00000530453.1_Silent_p.G126G|ACP2_ENST00000444355.2_Silent_p.G126G|ACP2_ENST00000537863.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	126						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						AGCGCTGCATCCCGTTGGGAG	0.572000													16	127					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283288	59283288	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:59283288G>A	ENST00000329328.3	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGAGGAAACTGAAGAGACGGC	0.388000													21	132					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325988	15325988	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:15325988C>T	ENST00000378116.4	-	2	220	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	72						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAGGCGACGCCATCAGTCCCC	0.577000													29	21					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239167208	239167208	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:239167208C>T	ENST00000254657.3	-	15	1984	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	569	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCAACTCCTCGGGGAAGCTG	0.552000													11	47					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107780434	107780434	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:107780434G>A	ENST00000369037.4	-	1	333	c.56C>T	c.(55-57)tCc>tTc	p.S19F	PDSS2_ENST00000453874.2_Missense_Mutation_p.S19F|PDSS2_ENST00000369031.4_Missense_Mutation_p.S19F	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	19					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCGACGCGGGGAACCCGAGGC	0.617000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	115					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101948	69101948	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:69101948G>A	ENST00000332644.5	-	3	322	c.161C>T	c.(160-162)tCt>tTt	p.S54F		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	54	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTGACTCCAGAAATATGAAA	0.303000													6	27					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110456967	110456967	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:110456967G>A	ENST00000329608.6	+	2	517	c.126G>A	c.(124-126)atG>atA	p.M42I	CSF1_ENST00000420111.2_Missense_Mutation_p.M42I|CSF1_ENST00000344188.5_Missense_Mutation_p.M42I|CSF1_ENST00000369801.1_Missense_Mutation_p.M42I|CSF1_ENST00000369802.3_Missense_Mutation_p.M42I	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	42					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAGCCACATGATTGGGAGTG	0.582000													13	54					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732815	88732815	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:88732815A>C	ENST00000226284.5	+	7	774	c.707A>C	c.(706-708)gAa>gCa	p.E236A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	236					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGTGGGTTTGAACCTACAACC	0.527000													9	41					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552838	106552838	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:106552838G>A	ENST00000369096.4	+	5	1037	c.803G>A	c.(802-804)cGt>cAt	p.R268H	PRDM1_ENST00000369091.2_Missense_Mutation_p.R232H|PRDM1_ENST00000369089.3_Missense_Mutation_p.R134H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	268					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACCTCTACCGTTCTAACATT	0.478000			"""D, N, Mis, F, S"""		DLBCL								83	734					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74523874	74523874	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:74523874C>T	ENST00000394009.3	+	11	1614	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	CCDC176_ENST00000553773.1_Silent_p.I222I|ALDH6A1_ENST00000553458.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000492247.2_Silent_p.I41I	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		AAGATAAAATCTTCATCACCC	0.398000													22	77					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27370279	27370279	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:27370279G>A	ENST00000323372.4	+	1	362	c.36G>A	c.(34-36)gtG>gtA	p.V12V	PIPOX_ENST00000583215.1_Intron	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	12					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ACGCCATTGTGATTGGGGCGG	0.597000													15	60					0	0	1	0	0
NBR2	10230	broad.mit.edu	37	17	41290786	41290786	+	RNA	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:41290786C>T	ENST00000460115.1	+	0	337					NR_003108.1																						gtcatcctttcctcccctgta	0.577000													9	40					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3237489	3237489	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:3237489C>T	ENST00000355072.5	+	63	8914	c.8769C>T	c.(8767-8769)ctC>ctT	p.L2923L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2923					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCTGATGCTCACCTGCATGT	0.607000													7	22					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41770565	41770565	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:41770565G>C	ENST00000392006.3	+	1	330	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q	HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000352456.3_Intron|HNRNPUL1_ENST00000595018.1_Intron|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E53Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	53	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CGCCGACGACGAACCGGGGCG	0.736000													6	19					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153910278	153910278	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153910278C>T	ENST00000361217.4	-	14	2445	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	676										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGCTCACTTCCTGACAGCTC	0.542000													28	177					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308402	7308402	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:7308402T>C	ENST00000297498.2	-	4	477	c.311A>G	c.(310-312)tAg>tGg	p.*104W	SPAG11B_ENST00000359758.5_Missense_Mutation_p.R79G|SPAG11B_ENST00000398462.2_Missense_Mutation_p.R79G|SPAG11B_ENST00000528168.1_Nonstop_Mutation_p.*51W|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000458665.1_Missense_Mutation_p.R26G	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATGGTATTTCTAATTCCCGGT	0.458000													22	64					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349677	65349677	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349677C>T	ENST00000284037.5	+	21	2920	c.2531C>T	c.(2530-2532)tCt>tTt	p.S844F	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S844F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S844F|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S844F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S840F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S844F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S844F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	844					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGTGATTGTTCTGTTGACTTA	0.393000													15	36					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54688024	54688024	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:54688024G>A	ENST00000254442.3	+	27	4424	c.4213G>A	c.(4213-4215)Gat>Aat	p.D1405N	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D1372N	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1405										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTTGCTCCTGATGGAAGATA	0.408000													34	143					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4889679	4889679	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:4889679G>A	ENST00000298375.7	+	10	991		c.e10-1		AKR1E2_ENST00000345253.5_Splice_Site|AKR1E2_ENST00000334019.4_Splice_Site	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2							cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTGTTTTTCAGAACTAAAAAT	0.343000													14	106					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718600	95718600	+	RNA	SNP	T	T	C	rs11815169	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:95718600T>C	ENST00000480546.1	-	0	2697					NR_002319.2																						TCCTTCTTGCTGTCCTTGGTG	0.547000													4	57					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22191497	22191497	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:22191497C>G	ENST00000374695.3	-	36	4544	c.4465G>C	c.(4465-4467)Gat>Cat	p.D1489H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1489	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGAGCTCATCCAGGTCGGCC	0.711000													4	4					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475327	120475327	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:120475327G>C	ENST00000355622.6	+	3	1022	c.921G>C	c.(919-921)ttG>ttC	p.L307F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L267F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	307					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTAATTGTTTGACAAATGTTT	0.338000													30	106					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28489120	28489120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:28489120G>C	ENST00000569430.1	-	16	1954	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V	CLN3_ENST00000357806.7_Missense_Mutation_p.L280V|CLN3_ENST00000355477.5_Missense_Mutation_p.L331V|CLN3_ENST00000333496.9_Missense_Mutation_p.L355V|CLN3_ENST00000565316.1_Missense_Mutation_p.L362V|CLN3_ENST00000395653.4_Missense_Mutation_p.L279V|CLN3_ENST00000568224.1_Missense_Mutation_p.L301V|CLN3_ENST00000535392.1_Missense_Mutation_p.L301V|CLN3_ENST00000357857.9_Missense_Mutation_p.L325V|CLN3_ENST00000354630.5_Missense_Mutation_p.L362V|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.L379V|CLN3_ENST00000360019.2_Missense_Mutation_p.L379V			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	379					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCCTCATACAGAATGATCAGG	0.602000													19	76					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464926	228464926	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:228464926C>T	ENST00000570156.2	+	28	7865	c.7791C>T	c.(7789-7791)ctC>ctT	p.L2597L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L2222L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.L1069L|OBSCN_ENST00000422127.1_Silent_p.L2222L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1591	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGGAGCCTCACCATTTACC	0.637000													6	7					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167517748	167517748	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:167517748T>A	ENST00000519204.1	+	7	1440	c.1322T>A	c.(1321-1323)aTg>aAg	p.M441K	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.M395K|TENM2_ENST00000545108.1_Missense_Mutation_p.M562K|TENM2_ENST00000520394.1_Missense_Mutation_p.M330K|TENM2_ENST00000518659.1_Missense_Mutation_p.M562K					teneurin transmembrane protein 2																		GACAAAGAGATGGTTTCCTTC	0.483000													41	147					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082556	16082556	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:16082556G>A	ENST00000281043.3	+	2	667	c.370G>A	c.(370-372)Gag>Aag	p.E124K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	124					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTCCGCCCGCGAGAAGCTGGA	0.756000			A		neuroblastoma								14	14					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053791	32053791	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:32053791C>T	ENST00000375244.3	-	7	3085	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K	TNXB_ENST00000375247.2_Missense_Mutation_p.E962K			P22105	TENX_HUMAN	tenascin XB	1049	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCCCAGCTCCTGGGGGCGC	0.662000													13	18					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878489	24878489	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:24878489G>A	ENST00000382554.3	+	4	1807	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	497					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGAGCCGGGGGATCAAGGGAG	0.572000													9	37					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:36484690C>T	ENST00000342292.4	-	11	4782	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1588						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502000													123	274					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49742439	49742439	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:49742439T>C	ENST00000327697.6	+	23	2126	c.1982T>C	c.(1981-1983)gTt>gCt	p.V661A	RNF123_ENST00000432042.1_Missense_Mutation_p.V515A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	661						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCCTGGCTGTTGGGGGGCCA	0.677000													7	5					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107780282	107780282	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:107780282G>T	ENST00000369037.4	-	1	485	c.208C>A	c.(208-210)Cgc>Agc	p.R70S	PDSS2_ENST00000453874.2_Missense_Mutation_p.R70S|PDSS2_ENST00000369031.4_Missense_Mutation_p.R70S	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	70					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCAGGCAGCGAAGGCTCATG	0.622000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	56					3.86212e-05	3.93608e-05	1	1	0
BPTF	2186	broad.mit.edu	37	17	65908180	65908180	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:65908180G>C	ENST00000321892.4	+	13	4619	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q	BPTF_ENST00000306378.6_Missense_Mutation_p.E1394Q|BPTF_ENST00000335221.5_Missense_Mutation_p.E1520Q|BPTF_ENST00000424123.3_Missense_Mutation_p.E1381Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1520					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)			TGAAAATCGAGAGTCTGAAAA	0.299000													23	71					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453946	84453946	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:84453946C>T	ENST00000377084.2	-	1	2582	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	566	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAATCCTTTCTAAAGAAGTT	0.517000													8	41					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102645984	102645984	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:102645984G>C	ENST00000279441.4	-	7	1037	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	334	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGATGGAAGAGAGGGCCAAAA	0.353000													15	74					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114904756	114904756	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:114904756C>T	ENST00000374270.3	-	5	722	c.550G>A	c.(550-552)Gag>Aag	p.E184K	SUSD1_ENST00000374263.3_Missense_Mutation_p.E184K|SUSD1_ENST00000374264.2_Missense_Mutation_p.E184K|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	184	Sushi 1.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGGAACCTCAGGAGGGGTA	0.398000													111	82					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167631486	167631486	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:167631486C>G	ENST00000519204.1	+	18	3439	c.3321C>G	c.(3319-3321)tgC>tgG	p.C1107W	TENM2_ENST00000403607.2_Missense_Mutation_p.C1052W|TENM2_ENST00000545108.1_Missense_Mutation_p.C1228W|TENM2_ENST00000520394.1_Missense_Mutation_p.C996W|TENM2_ENST00000518659.1_Missense_Mutation_p.C1228W					teneurin transmembrane protein 2																		GTCCCAGCTGCAACGGCCTTG	0.577000													11	50					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71888182	71888182	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:71888182C>T	ENST00000286648.5	+	3	703	c.306C>T	c.(304-306)ctC>ctT	p.L102L	DCK_ENST00000504730.1_Silent_p.L102L|DCK_ENST00000504952.1_Silent_p.L102L	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	102					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	ATGCCTGTCTCAGTCGAATAA	0.403000													24	102					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64033975C>G	ENST00000540288.1	+	29	3468	c.3365C>G	c.(3364-3366)aCg>aGg	p.T1122R	PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122R|PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055R	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGAACTGACGGAGATTAAC	0.652000													9	66					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119562103	119562103	+	Splice_Site	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:119562103T>A	ENST00000264235.8	-	10	2176	c.1194A>T	c.(1192-1194)tcA>tcT	p.S398S	GSK3B_ENST00000316626.5_Splice_Site_p.S411S|GSK3B_ENST00000473886.1_Intron	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	398					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CGTTCTTACCTGACGCTGCTG	0.502000													29	63					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339407	124339407	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:124339407C>T	ENST00000338354.3	+	10	1099	c.993C>T	c.(991-993)gtC>gtT	p.V331V	DMBT1_ENST00000368955.3_Silent_p.V331V|DMBT1_ENST00000368909.3_Silent_p.V331V|DMBT1_ENST00000344338.3_Silent_p.V331V|DMBT1_ENST00000330163.4_Silent_p.V331V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.V331V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	331	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACGCTGGTGTCATCTGCTCAG	0.527000													14	60					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113718683	113718683	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:113718683C>A	ENST00000397030.1	+	6	691	c.654C>A	c.(652-654)gaC>gaA	p.D218E	MCF2L_ENST00000375604.2_Missense_Mutation_p.D242E|MCF2L_ENST00000442652.2_Missense_Mutation_p.D215E|MCF2L_ENST00000434480.2_Missense_Mutation_p.D191E|MCF2L_ENST00000423482.2_Missense_Mutation_p.D183E|MCF2L_ENST00000375597.4_Missense_Mutation_p.D183E|MCF2L_ENST00000375608.3_Missense_Mutation_p.D215E|MCF2L_ENST00000375601.3_Missense_Mutation_p.D189E|MCF2L_ENST00000421756.1_Missense_Mutation_p.D189E|MCF2L_ENST00000535094.2_Missense_Mutation_p.D185E			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	215	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGACCGAGGACCTGGGTGGGA	0.612000													9	73					0.00621372	0.00627926	1	1	0
TMEM132E	124842	broad.mit.edu	37	17	32955650	32955650	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:32955650C>T	ENST00000321639.5	+	4	1125	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	266						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATGTGACCTCGGAGCTGCTG	0.612000													7	38					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				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						ggaatggaatcgaatcgaatc	0.373000													4	1					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001085	58001085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:58001085C>G	ENST00000564448.1	-	2	166	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E36Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.E36Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	36	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTTCCACCTCCGCCTCCATC	0.652000													14	47					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70201868	70201868	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:70201868G>A	ENST00000253925.7	+	18	2654	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.K813K	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	813					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGTTTGGCAAGAAAGAAAAGG	0.547000													27	62					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665359	64665359	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64665359C>T	ENST00000421419.2	-	35	5066	c.4952G>A	c.(4951-4953)gGa>gAa	p.G1651E	ATG2A_ENST00000377264.3_Missense_Mutation_p.G1649E			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1649							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGTCCACCTCCTGGGGCCTC	0.697000													7	49					0	0	1	0	0
PFDN6	10471	broad.mit.edu	37	6	33258524	33258524	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:33258524G>C	ENST00000395131.1	+	5	698	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	PFDN6_ENST00000374606.5_Missense_Mutation_p.E98Q|PFDN6_ENST00000374610.2_Missense_Mutation_p.E98Q|PFDN6_ENST00000463584.1_Intron|PFDN6_ENST00000374607.1_Missense_Mutation_p.E98Q			O15212	PFD6_HUMAN	prefoldin subunit 6	98					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						TCGGGATCTTGAGCGGCAGTC	0.562000													8	27					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31500659	31500659	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:31500659C>T	ENST00000417556.2	-	8	1440	c.810G>A	c.(808-810)acG>acA	p.T270T	DDX39B_ENST00000458640.1_Silent_p.T255T|DDX39B_ENST00000376177.2_Silent_p.T255T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000396172.1_Silent_p.T255T|DDX39B_ENST00000415382.2_Silent_p.T177T			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	255	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	p.T255T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGTCAACTTCGTCTCATCAT	0.572000													18	51					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692170	74692170	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:74692170G>T	ENST00000334011.5	+	9	1744	c.1526G>T	c.(1525-1527)tGt>tTt	p.C509F		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	509	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CGTTCCCGCTGTGCCCAGGGT	0.577000													38	93					3.38236e-24	3.72448e-24	1	1	0
AMER1	139285	broad.mit.edu	37	X	63412575	63412575	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63412575C>G	ENST00000330258.3	-	2	864	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	AMER1_ENST00000403336.1_Missense_Mutation_p.E198Q|AMER1_ENST00000374869.3_Missense_Mutation_p.E198Q	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTGACCCTCTCAGGCCCCTTG	0.577000													16	35					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079409	100079409	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:100079409G>A	ENST00000375202.2	+	23	2342	c.990G>A	c.(988-990)atG>atA	p.M330I	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.M330I|CCDC180_ENST00000357054.1_Missense_Mutation_p.M469I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.M469I|CCDC180_ENST00000411667.2_Missense_Mutation_p.M327I					coiled-coil domain containing 180																		TCAACCTGATGGAGTCCACCC	0.612000													30	125					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62371083	62371083	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:62371083C>T	ENST00000519846.1	+	6	1431	c.959C>T	c.(958-960)tCa>tTa	p.S320L	CLVS1_ENST00000325897.4_Missense_Mutation_p.S320L|CLVS1_ENST00000518592.1_Missense_Mutation_p.S41L			Q8IUQ0	CLVS1_HUMAN	clavesin 1	320					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGAGAATGCTCACCCAAGCTG	0.443000													14	32					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23846484	23846484	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:23846484G>A	ENST00000359320.3	+	1	468	c.24G>A	c.(22-24)cgG>cgA	p.R8R	CMTM5_ENST00000339180.4_Silent_p.R8R|CMTM5_ENST00000382809.2_Silent_p.R8R|CMTM5_ENST00000397227.3_Silent_p.R8R|CMTM5_ENST00000555731.1_Silent_p.R8R|CMTM5_ENST00000342473.4_Silent_p.R8R	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	8					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GAGATCGCCGGGACCGGCACC	0.612000													9	54					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437085	16437085	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:16437085G>A	ENST00000380672.4	-	6	1164	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	BNC2_ENST00000380667.2_Silent_p.S302S|BNC2_ENST00000380666.2_Silent_p.S369S|BNC2_ENST00000545497.1_Silent_p.S274S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAGAAACTTCGGATTCGCTGC	0.483000													14	138					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913590	16913590	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:16913590C>G	ENST00000430580.2	-	11	1620	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	245	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAGAGGATTCTCTGTCTACA	0.438000													194	940					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105672957	105672957	+	Silent	SNP	C	C	T	rs71723770		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:105672957C>T	ENST00000542731.1	+	19	2580	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	CDHR3_ENST00000478080.1_Silent_p.V736V|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Silent_p.V824V			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	824					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACGCAGAGTCACTGCTGGGG	0.532000													16	22					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134889766	134889766	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:134889766C>T	ENST00000292035.5	-	3	500	c.437G>A	c.(436-438)cGt>cAt	p.R146H	MED27_ENST00000357028.2_Missense_Mutation_p.R146H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTTGGTCTACGTTTGGCAGA	0.428000													24	73					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118788291	118788291	+	Missense_Mutation	SNP	C	C	G	rs143278360		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:118788291C>G	ENST00000256216.6	+	1	154	c.21C>G	c.(19-21)ttC>ttG	p.F7L	HSD17B4_ENST00000510025.1_5'UTR|HSD17B4_ENST00000504811.1_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.F7L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	7	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CGCTGAGGTTCGACGGGCGGG	0.667000													15	42					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2320505	2320505	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:2320505G>A	ENST00000381458.5	+	12	1869	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	602					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATAGGTGCTGAACGAGGCTC	0.637000													6	17					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15188001	15188001	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:15188001C>G	ENST00000512701.2	-	14	1399	c.1363G>C	c.(1363-1365)Gat>Cat	p.D455H	TTC39B_ENST00000507993.1_Missense_Mutation_p.D290H|TTC39B_ENST00000297615.5_Missense_Mutation_p.D386H|TTC39B_ENST00000355694.2_Missense_Mutation_p.D389H|TTC39B_ENST00000380850.4_Missense_Mutation_p.D442H|TTC39B_ENST00000507285.1_Missense_Mutation_p.D290H			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B								binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAAAGCAGATCTGAATAGTAA	0.373000													25	100					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624414	21624414	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:21624414G>C	ENST00000444129.2	-	13	2083	c.1615C>G	c.(1615-1617)Cgt>Ggt	p.R539G	RECQL_ENST00000421138.2_Missense_Mutation_p.R539G	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	539					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGATCTTCACGAGGAAGTGTG	0.388000								Other identified genes with known or suspected DNA repair function					26	133					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707129	6707129	+	Missense_Mutation	SNP	G	G	A	rs117793540	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:6707129G>A	ENST00000245907.6	-	17	2295	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	735			R -> W (in AHUS5).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCTGCCGCCGCAGCTCTGTG	0.687000													13	33					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766597	77766597	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:77766597G>A	ENST00000521891.2	+	10	7888	c.7440G>A	c.(7438-7440)acG>acA	p.T2480T	ZFHX4_ENST00000455469.2_Silent_p.T2435T|ZFHX4_ENST00000518282.1_Silent_p.T2454T|ZFHX4_ENST00000050961.6_Silent_p.T2435T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCCATGACGTCTCTCCAGA	0.517000										HNSCC(33;0.089)			117	22					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54308011	54308011	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:54308011T>A	ENST00000545554.1	+	1	2911	c.2911T>A	c.(2911-2913)Tct>Act	p.S971T	UNC13C_ENST00000260323.11_Missense_Mutation_p.S971T|UNC13C_ENST00000537900.1_Missense_Mutation_p.S971T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	971					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTCGTCCTTCTTTCAAAGA	0.388000													5	13					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360326	64360326	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64360326G>A	ENST00000377574.1	+	2	1225	c.478G>A	c.(478-480)Gct>Act	p.A160T	SLC22A12_ENST00000336464.7_Missense_Mutation_p.A160T|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A160T|SLC22A12_ENST00000473690.1_De_novo_Start_InFrame|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A160T	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	160					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TCTGGTGGGAGCTGCTGCGTG	0.632000													21	105					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411989	51411989	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:51411989C>T	ENST00000319760.6	-	1	459	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCAAACCTGTCGATTCATGAT	0.478000													13	89					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123292	40123292	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:40123292C>T	ENST00000261435.6	+	9	3977	c.3561C>T	c.(3559-3561)aaC>aaT	p.N1187N		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1187						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTATTAGTAACGCTGACTCAC	0.413000													61	101					0	0	1	0	0
TTC36	143941	broad.mit.edu	37	11	118399370	118399370	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:118399370G>C	ENST00000302783.4	+	2	194	c.171G>C	c.(169-171)caG>caC	p.Q57H	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TTC36_ENST00000539546.1_5'UTR	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	57							binding			lung(2)	2						TGGAGCTGCAGGGGGTGATGG	0.607000													14	77					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29366627	29366627	+	Missense_Mutation	SNP	C	C	G	rs138901368	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:29366627C>G	ENST00000320081.5	+	7	956	c.701C>G	c.(700-702)cCg>cGg	p.P234R	CLIP4_ENST00000404424.1_Missense_Mutation_p.P234R|CLIP4_ENST00000401605.1_Missense_Mutation_p.P234R|CLIP4_ENST00000401617.2_Missense_Mutation_p.P127R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	234										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GTAGATATGCCGTTAGAGATG	0.453000													30	145					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29913231	29913231	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:29913231G>C	ENST00000396634.1	+	10	1438	c.1097G>C	c.(1096-1098)tGa>tCa	p.*366S	HLA-A_ENST00000376802.2_Nonstop_Mutation_p.*300S|HLA-A_ENST00000376806.5_Nonstop_Mutation_p.*372S|HLA-A_ENST00000376809.5_Nonstop_Mutation_p.*366S			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.*366L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTATAGTGTGAGACAGCTGC	0.448000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			19	65					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91423194	91423194	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:91423194C>T	ENST00000268171.3	+	12	1635	c.1356C>T	c.(1354-1356)atC>atT	p.I452I		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	452					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGTGCATCATCGACATCCTCA	0.667000													7	24					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:26234919G>C	ENST00000244534.5	-	1	297	c.243C>G	c.(241-243)atC>atG	p.I81M		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	81	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCCAAGCTTGATACGGCTGT	0.542000													64	134					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26709193	26709193	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:26709193C>A	ENST00000381340.3	-	36	5353	c.4937G>T	c.(4936-4938)aGa>aTa	p.R1646I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1646					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACATCTTATTCTTGCATCGCT	0.458000													59	134					1.14856e-27	1.27058e-27	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123830066	123830066	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:123830066G>T	ENST00000420886.2	-	3	288	c.289C>A	c.(289-291)Cca>Aca	p.P97T	SBNO1_ENST00000267176.4_Missense_Mutation_p.P96T|SBNO1_ENST00000602750.1_Missense_Mutation_p.P96T|SBNO1_ENST00000602398.1_Missense_Mutation_p.P97T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	97							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCAAGGGTGGAAGATGATTT	0.378000													14	69					1.05317e-09	1.10872e-09	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75649248	75649248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:75649248C>T	ENST00000361470.2	+	1	1203	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	309	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCGTGCAGCCCACTGC	0.692000													3	22					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1782618	1782618	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:1782618C>T	ENST00000236671.2	-	2	281	c.149G>A	c.(148-150)gGc>gAc	p.G50D	AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	50					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGACGGGGCCTTTGGCAAT	0.622000													15	43					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131908	40131908	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:40131908G>A	ENST00000235628.1	-	2	135	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	46					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGAGGCTTGGGCTGCAGAGGT	0.582000													5	93					0	0	1	0	0
DBNDD1	79007	broad.mit.edu	37	16	90075252	90075252	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:90075252C>G	ENST00000392973.3	-	2	1008	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E107Q|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E87Q|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E207Q			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	87						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGGCCAGCTCCTGGTCCGAC	0.642000													3	14					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99783835	99783835	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:99783835G>C	ENST00000426455.1	+	5	756	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E117Q	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	117					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGGTAGATGAGTGGCTGGA	0.403000													30	197					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111812856	111812856	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:111812856G>C	ENST00000374586.3	-	13	2002	c.1971C>G	c.(1969-1971)ctC>ctG	p.L657L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	657						integral to membrane											GTACCAGAGAGAGTACAAAAT	0.443000													15	76					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36212267	36212267	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36212267C>T	ENST00000420124.1	+	3	2018	c.2018C>T	c.(2017-2019)gCt>gTt	p.A673V	KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.A673V					lysine (K)-specific methyltransferase 2B																		CCTCTTGGGGCTCCTGAAGCC	0.642000													5	6					0	0	1	0	0
NPM3	10360	broad.mit.edu	37	10	103542092	103542092	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:103542092A>C	ENST00000370110.5	-	4	363	c.341T>G	c.(340-342)tTc>tGc	p.F114C	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	114							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTGGAGCTGGAAGTCATCCAG	0.597000													3	10					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543642	46543642	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:46543642C>T	ENST00000242848.4	-	14	3385	c.3037G>A	c.(3037-3039)Gat>Aat	p.D1013N	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1013N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1013	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATATCAGAATCACCTTTGGAT	0.373000													10	64					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607517	68607517	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:68607517G>C	ENST00000234313.7	+	2	279	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	34	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGATGGAATTGAATTCTATAA	0.453000													53	47					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28880827	28880827	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:28880827G>A	ENST00000282397.4	-	29	4054	c.3803C>T	c.(3802-3804)tCg>tTg	p.S1268L	FLT1_ENST00000540678.1_Missense_Mutation_p.S486L|FLT1_ENST00000543394.1_Missense_Mutation_p.S291L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1268					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATCTTGAGCGAGGCCTTGGG	0.532000													22	45					0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2254191	2254191	+	Missense_Mutation	SNP	C	C	T	rs141784187	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:2254191C>T	ENST00000337190.2	-	4	566	c.253G>A	c.(253-255)Gac>Aac	p.D85N		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	85	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CGGGTGCTGTCGGGGCCCAGG	0.632000													9	40					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31611746	31611746	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:31611746C>T	ENST00000319386.3	+	6	1332	c.339C>T	c.(337-339)atC>atT	p.I113I	CCDC129_ENST00000451887.2_Silent_p.I139I|CCDC129_ENST00000409210.1_Silent_p.I21I|CCDC129_ENST00000407970.3_Silent_p.I113I|CCDC129_ENST00000482748.1_3'UTR			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	113										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACTCCCATCCTATCCAGAG	0.398000													10	82					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18174691	18174691	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:18174691C>G	ENST00000600835.2	-	14	1911	c.1613G>C	c.(1612-1614)aGc>aCc	p.S538T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.S538T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTCACCGATGCTGAAGCGCTG	0.617000													3	29					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741729	37741729	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:37741729C>T	ENST00000400485.1	+	15	2139	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	688					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ACCGATAAATCTGCAGATGAT	0.413000													48	37					0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112246033	112246033	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:112246033C>A	ENST00000369709.3	+	5	438	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.Q87K|RAP1A_ENST00000356415.1_Missense_Mutation_p.Q87K|RAP1A_ENST00000545460.1_Missense_Mutation_p.Q87K	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	87					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TATTACAGCTCAGTCCACGTT	0.368000													23	93					8.24728e-16	8.95793e-16	1	1	0
MAP4	4134	broad.mit.edu	37	3	47956392	47956392	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:47956392C>G	ENST00000426837.2	-	9	2052	c.1965G>C	c.(1963-1965)ccG>ccC	p.P655P	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.P638P|MAP4_ENST00000395734.3_Silent_p.P638P			P27816	MAP4_HUMAN	microtubule-associated protein 4	638					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTCCTCGGCCGGCAAGCTGC	0.443000													71	135					0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138413346	138413346	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:138413346G>C	ENST00000421351.3	-	3	585	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	139					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TTGGCATGAAGGGTGAAGGTC	0.488000													26	102					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5926434	5926434	+	Splice_Site	SNP	A	A	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:5926434A>G	ENST00000378156.4	-	26	3908	c.3643T>C	c.(3643-3645)Tcg>Ccg	p.S1215P	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1215					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACTTACGAGTAAATGATG	0.597000													4	21					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29092969	29092969	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29092969G>A	ENST00000544772.1	-	11	1788	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	CHEK2_ENST00000382580.2_Missense_Mutation_p.H382Y|CHEK2_ENST00000404276.1_Missense_Mutation_p.H339Y|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.H339Y|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.H248Y|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.H248Y|CHEK2_ENST00000328354.6_Missense_Mutation_p.H339Y|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000402731.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	339	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCGTTTTCATGAAGGTACTAC	0.398000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					12	33					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183603124	183603124	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:183603124C>T	ENST00000511685.1	+	11	2115	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.S664S					teneurin transmembrane protein 3																		AAAGTGGCTCCTGCACGTGTG	0.488000													18	49					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12792434G>T	ENST00000210060.7	-	1	282	c.147C>A	c.(145-147)ttC>ttA	p.F49L	DHPS_ENST00000351660.5_Missense_Mutation_p.F49L	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CGGTGGTGCCGAAGGCCTCCA	0.632000													14	44					6.31663e-08	6.57753e-08	1	1	0
MED12L	116931	broad.mit.edu	37	3	151112625	151112625	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:151112625C>T	ENST00000474524.1	+	37	5723	c.5685C>T	c.(5683-5685)ctC>ctT	p.L1895L	MED12L_ENST00000273432.4_Silent_p.L1755L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1895	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCGACTTCTCAGGCAAGCCC	0.522000													50	62					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3456665	3456665	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:3456665C>G	ENST00000551402.1	+	2	643	c.330C>G	c.(328-330)ctC>ctG	p.L110L	TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000400167.2_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000330513.5_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000472042.1_Intron|TGIF1_ENST00000548489.2_Intron			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TCATTAAGCTCCTTGCCACTC	0.353000													6	11					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111628632	111628632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:111628632G>A	ENST00000435970.1	-	33	9766	c.8950C>T	c.(8950-8952)Cag>Tag	p.Q2984*	REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q3062*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q3062*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q3062*|REV3L_ENST00000462119.1_5'UTR			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3062					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCAACATGCTGAGGTTGGCTC	0.458000								DNA polymerases (catalytic subunits)					28	98					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924345	45924345	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:45924345G>C	ENST00000395629.2	+	5	1327	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.E343Q			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	343	Poly-Glu.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GTCGTCCCCAGAGCGGGCTGA	0.721000													4	12					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173970	51173970	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:51173970C>T	ENST00000440970.1	-	2	2303	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.L721L|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	721					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTGCATTTTCAAGGCGCTCT	0.517000													13	61					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829687	57829687	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:57829687C>T	ENST00000371030.2	+	5	4923	c.4923C>T	c.(4921-4923)gcC>gcT	p.A1641A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1641						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCCTGAAGCCCCTTCTAAAT	0.463000													48	88					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19479720	19479720	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:19479720C>T	ENST00000328405.2	+	8	1508	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G	KCNH8_ENST00000537696.1_Silent_p.G55G	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	414						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CCTTGGGGGGCCCGTCGATCC	0.488000													55	486					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726129	238726129	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:238726129C>T	ENST00000316997.4	+	3	702	c.570C>T	c.(568-570)caC>caT	p.H190H	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.H190H	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	189							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGGAATATCACAGTGCAGAAG	0.333000													8	26					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85742700	85742700	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:85742700G>A	ENST00000322366.6	-	11	1535	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	WDFY3_ENST00000295888.4_Silent_p.H376H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	376						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCTCACACTGTGACCTAGAA	0.338000													24	101					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882824	152882824	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:152882824A>T	ENST00000368764.3	+	2	615	c.551A>T	c.(550-552)gAg>gTg	p.E184V	IVL_ENST00000392667.2_Missense_Mutation_p.E38V			P07476	INVO_HUMAN	involucrin	184	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggcagctggagctcccagag	0.672000													3	7					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208227794	208227794	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:208227794G>C	ENST00000367033.3	-	14	3585	c.2828C>G	c.(2827-2829)aCg>aGg	p.T943R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	943	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGGGACTTCGTCATGAACTC	0.592000													18	55					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283252	59283252	+	Silent	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:59283252G>T	ENST00000329328.3	+	1	867	c.867G>T	c.(865-867)ctG>ctT	p.L289L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTTACACGCTGAGGAATCAGG	0.453000													27	188					6.32553e-13	6.74817e-13	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28540437	28540437	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:28540437C>T	ENST00000452236.2	-	4	3846	c.3229G>A	c.(3229-3231)Gaa>Aaa	p.E1077K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1077					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						actaagagttcatttcgtatt	0.393000													30	104					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215764	140215764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:140215764C>T	ENST00000525929.1	+	1	1796	c.1796C>T	c.(1795-1797)gCt>gTt	p.A599V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A599V	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTTGACGCTGACTCAGGC	0.657000													21	79					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203825996	203825996	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:203825996G>C	ENST00000402905.3	+	8	1000	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	CARF_ENST00000471271.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.E139Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.E151Q|CARF_ENST00000444724.1_Missense_Mutation_p.E227Q|CARF_ENST00000414439.1_Missense_Mutation_p.E125Q|CARF_ENST00000434998.1_Missense_Mutation_p.E125Q|CARF_ENST00000438828.2_Missense_Mutation_p.E227Q|CARF_ENST00000320443.8_Missense_Mutation_p.E227Q|CARF_ENST00000456821.2_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.E151Q	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		CTGTGTAAGTGAGACTGAATT	0.413000													22	41					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349994	65349994	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349994C>G	ENST00000284037.5	+	21	3237	c.2848C>G	c.(2848-2850)Cat>Gat	p.H950D	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H950D|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H950D|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H950D|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H946D|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H950D|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.H950D	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	950					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATTCAAATCATAATCCCGA	0.383000													13	63					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73967257	73967257	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:73967257C>G	ENST00000553558.1	-	12	2604	c.2283G>C	c.(2281-2283)aaG>aaC	p.K761N	HEATR4_ENST00000560393.1_Missense_Mutation_p.K714N|HEATR4_ENST00000334988.2_Missense_Mutation_p.K761N	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GACTCACCATCTTGTCGCGGA	0.532000													41	35					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110582896	110582896	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:110582896G>C	ENST00000260283.4	-	2	343	c.59C>G	c.(58-60)tCc>tGc	p.S20C	ARHGAP20_ENST00000528829.1_Intron|ARHGAP20_ENST00000533353.1_Intron|ARHGAP20_ENST00000527598.1_Intron	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	20					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTGTCAGGGAAGAGGAGCG	0.662000													6	6					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38461129	38461129	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:38461129G>T	ENST00000399017.2	+	5	3116	c.369G>T	c.(367-369)aaG>aaT	p.K123N	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.K123N|TTC3_ENST00000354749.2_Missense_Mutation_p.K123N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.K123N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAAATTTGAAGAAACTACAAC	0.323000													15	62					3.45872e-05	3.53246e-05	1	1	0
CTD-2090I13.1	0	broad.mit.edu	37	1	227618492	227618492	+	RNA	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:227618492G>T	ENST00000445817.1	+	0	1727																											CAGACAGAAGGATGTAAAGTC	0.493000													5	22					1	1	1	1	0
DHX30	22907	broad.mit.edu	37	3	47887699	47887699	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:47887699G>C	ENST00000446256.2	+	12	1592	c.1020G>C	c.(1018-1020)caG>caC	p.Q340H	DHX30_ENST00000457607.1_Missense_Mutation_p.Q407H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q351H|DHX30_ENST00000445061.1_Missense_Mutation_p.Q379H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	379						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCGGCTGCAGAGTGATGACA	0.542000													63	122					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90342026	90342026	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:90342026G>T	ENST00000371947.3	-	2	1496	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	RNLS_ENST00000331772.4_Missense_Mutation_p.Q53K|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Intron	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	53						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCTGTGCACTGAGGATTATGA	0.433000													11	18					2.80697e-09	2.94855e-09	1	1	0
RPH3AL	9501	broad.mit.edu	37	17	96938	96938	+	Missense_Mutation	SNP	C	C	T	rs147456712	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:96938C>T	ENST00000323434.8	-	6	1087	c.490G>A	c.(490-492)Gag>Aag	p.E164K	RPH3AL_ENST00000331302.7_Missense_Mutation_p.E193K|RPH3AL_ENST00000536489.2_Missense_Mutation_p.E164K|RPH3AL_ENST00000576001.1_5'UTR	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	193					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CGGCTGGTCTCAGAGCTTCTG	0.612000													20	130					0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42702987	42702987	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:42702987G>A	ENST00000457842.3	+	3	1765	c.356G>A	c.(355-357)tGt>tAt	p.C119Y	ZBTB47_ENST00000232974.6_Missense_Mutation_p.C495Y|ZBTB47_ENST00000505904.1_Missense_Mutation_p.C41Y	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TGTGTGACATGTGGCAAAGCT	0.522000													31	49					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84027994	84027994	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:84027994C>T	ENST00000280241.8	-	1	194	c.195G>A	c.(193-195)ggG>ggA	p.G65G	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398301.2_Silent_p.G65G	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGCTGGACCCCCCGGTCCTGT	0.607000													59	72					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22033020	22033020	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:22033020C>G	ENST00000308271.9	-	17	2799	c.2151G>C	c.(2149-2151)aaG>aaC	p.K717N	USP48_ENST00000529637.1_Missense_Mutation_p.K729N|USP48_ENST00000400301.1_Missense_Mutation_p.K717N|USP48_ENST00000374732.3_Missense_Mutation_p.K255N	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	717	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGAGAGAAGTCTTTTGCTCGT	0.388000													71	143					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180599	124180599	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:124180599C>T	ENST00000357821.2	-	1	134	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGCTGGAGCTCTGCTTGCTGT	0.453000													61	132					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31654681	31654681	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:31654681G>A	ENST00000375494.3	+	9	976	c.976G>A	c.(976-978)Gag>Aag	p.E326K		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	326					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.E326K(1)									TTTGCTCCCTGAGGTGAGTGA	0.522000													29	93					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161677	43161677	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:43161677C>T	ENST00000352483.2	-	9	1884	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	RIPK4_ENST00000544709.1_Missense_Mutation_p.R496Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R559Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R496Q			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	559						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCCACGCCTCGGCGCAGCAG	0.662000													10	95					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46865191	46865191	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:46865191G>T	ENST00000393382.3	-	11	1712	c.1571C>A	c.(1570-1572)gCt>gAt	p.A524D	TTLL6_ENST00000433608.2_Missense_Mutation_p.A217D	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	476						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCCTCCCGAGCCCTGGAAGC	0.532000													20	144					1.50039e-11	1.59708e-11	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106845670	106845670	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:106845670C>T	ENST00000276185.4	+	16	4500	c.4500C>T	c.(4498-4500)gcC>gcT	p.A1500A				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1500						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GACAGATGGCCGTGTTCTCAC	0.607000													5	36					0	0	1	0	0
WDR38	401551	broad.mit.edu	37	9	127617983	127617983	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:127617983C>T	ENST00000373574.1	+	3	317	c.261C>T	c.(259-261)gtC>gtT	p.V87V		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	87										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACTGCACTGTCCGCCTGTGGG	0.642000											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	77					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951254	30951254	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:30951254C>G	ENST00000402321.1	-	3	1275	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.E320Q|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.E320Q			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	320					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCGAAGGCCTCCACCTTGCGC	0.711000													8	13					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548448	4548448	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:4548448C>G	ENST00000586582.1	-	13	1591	c.1281G>C	c.(1279-1281)ctG>ctC	p.L427L	SEMA6B_ENST00000301293.3_Silent_p.L427L|SEMA6B_ENST00000586965.1_Silent_p.L427L	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	427	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTCGAGTCAGCTGGTGCC	0.652000													19	22					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26073233	26073233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:26073233G>T	ENST00000374332.4	+	3	1042	c.712G>T	c.(712-714)Gag>Tag	p.E238*	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000263979.3_Nonsense_Mutation_p.E58*|MAN1C1_ENST00000374329.1_Nonsense_Mutation_p.E9*	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	238					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGAGTTCCAGGAGGCCAAGGC	0.642000													23	35					2.44723e-14	2.64014e-14	1	1	0
M1AP	130951	broad.mit.edu	37	2	74834257	74834257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:74834257G>A	ENST00000290536.5	-	4	636	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	M1AP_ENST00000409585.1_Nonsense_Mutation_p.Q174*|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Nonsense_Mutation_p.Q174*	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein																		TCAACGACCTGAAACCTCCTG	0.443000													24	135					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111208	23111208	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:23111208G>A	ENST00000400191.3	+	3	468	c.450G>A	c.(448-450)gtG>gtA	p.V150V	EPHB2_ENST00000544305.1_Silent_p.V150V|EPHB2_ENST00000374627.1_Silent_p.V144V|EPHB2_ENST00000374632.3_Silent_p.V150V|EPHB2_ENST00000374630.3_Silent_p.V150V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	150					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCTCCCAGGTGGACCTGGGTG	0.597000													6	47					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3819557	3819557	+	Translation_Start_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:3819557C>T	ENST00000225538.3	-	0	237					NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCCTGCACGGCCTCTGCT	0.677000													12	70					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17599273	17599273	+	Missense_Mutation	SNP	C	C	T	rs149077359		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:17599273C>T	ENST00000377813.1	-	20	4030	c.3727G>A	c.(3727-3729)Gaa>Aaa	p.E1243K	RRBP1_ENST00000246043.4_Missense_Mutation_p.E1243K|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Missense_Mutation_p.E810K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E584K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E810K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1243					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTCTGGGCTTCGCTCTTGGCG	0.552000													22	50					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43784619	43784619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:43784619G>A	ENST00000263801.3	-	2	292	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q19*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q19*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q19*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	14					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTATCTTGCTGAGAGAAATCT	0.453000								Other conserved DNA damage response genes					43	153					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29598224	29598224	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:29598224G>C	ENST00000318184.5	-	23	2867	c.2868C>G	c.(2866-2868)gtC>gtG	p.V956V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	956	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGACTTTCAAGACAATATAGC	0.353000													40	97					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92441909	92441909	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:92441909C>A	ENST00000370389.2	+	5	1237	c.313C>A	c.(313-315)Cct>Act	p.P105T	BRDT_ENST00000394530.3_Missense_Mutation_p.P132T|BRDT_ENST00000362005.3_Missense_Mutation_p.P178T|BRDT_ENST00000399546.2_Missense_Mutation_p.P178T|BRDT_ENST00000402388.1_Missense_Mutation_p.P178T	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	178	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCAAGAAATTCCTTCTGTATT	0.403000													12	83					4.36969e-10	4.61031e-10	1	1	0
ORC3	23595	broad.mit.edu	37	6	88321837	88321837	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:88321837C>G	ENST00000392844.3	+	8	792	c.744C>G	c.(742-744)ctC>ctG	p.L248L	ORC3_ENST00000417380.2_Silent_p.L195L|ORC3_ENST00000257789.4_Silent_p.L248L|ORC3_ENST00000546266.1_Silent_p.L105L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	248					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CACTAATACTCATTTTTGGAA	0.328000													20	58					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197120	8197120	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:8197120C>G	ENST00000520004.1	-	4	2452	c.2188G>C	c.(2188-2190)Gat>Cat	p.D730H	SGK223_ENST00000330777.4_Missense_Mutation_p.D730H			Q86YV5	SG223_HUMAN		730							ATP binding|non-membrane spanning protein tyrosine kinase activity										TTTTCCAAATCAGAGCTGCTC	0.498000													32	56					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45837945	45837945	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:45837945C>G	ENST00000397928.1	+	21	3727	c.3282C>G	c.(3280-3282)atC>atG	p.I1094M	TRPM2_ENST00000300482.5_Missense_Mutation_p.I1094M|TRPM2_ENST00000300481.9_Missense_Mutation_p.I1074M|TRPM2_ENST00000397932.2_Missense_Mutation_p.I1094M|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1094						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCTCTTCATCAAGAGGGTGG	0.637000													23	226					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25593832	25593832	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:25593832C>G	ENST00000269141.3	-	3	637	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E41Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	72					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCACTGCTCTCATATTGTACT	0.368000													29	69					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53646663	53646663	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:53646663C>A	ENST00000534842.1	+	2	512	c.365C>A	c.(364-366)tCc>tAc	p.S122Y	MFSD5_ENST00000329548.4_Missense_Mutation_p.S15Y	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	15					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTCCTGGCCTCCTGCCTGGGG	0.592000													42	65					8.16277e-20	8.9473e-20	1	1	0
LOC653786	653786	broad.mit.edu	37	16	22558274	22558274	+	RNA	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:22558274C>G	ENST00000550753.1	+	0	1256					NR_003676.2																						TGGTTATTATCTCTTTTTAGA	0.433000													9	56					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406532	55406532	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:55406532G>T	ENST00000398661.2	-	4	513	c.382C>A	c.(382-384)Cca>Aca	p.P128T	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P98T|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P98T|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P98T|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P98T|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P98T	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	128							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATACCTGTGGTACCCATCTG	0.308000													28	125					1.75199e-13	1.87741e-13	1	1	0
GPD1L	23171	broad.mit.edu	37	3	32188164	32188164	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:32188164C>G	ENST00000282541.5	+	5	757	c.556C>G	c.(556-558)Cca>Gca	p.P186A		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	186					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						TCTGCAGACTCCAAATTTTCG	0.433000													99	306					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1457910	1457910	+	Missense_Mutation	SNP	C	C	A	rs6135048	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:1457910C>A	ENST00000537284.1	-	5	854	c.518G>T	c.(517-519)gGa>gTa	p.G173V	SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000444444.2_Intron			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGCTCCCTTCCCATGACCAA	0.552000													4	46					0.00909568	0.00917228	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237396819	237396819	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:237396819T>C	ENST00000409907.3	-	4	746	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	IQCA1_ENST00000431676.2_Missense_Mutation_p.S158G|IQCA1_ENST00000309507.5_Missense_Mutation_p.S154G	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	158							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AAAGGGATACTCTTTACAGGG	0.398000													5	20					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196613274	196613274	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:196613274G>A	ENST00000323460.5	+	2	1471	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	SENP5_ENST00000445299.2_Missense_Mutation_p.D408N|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	408					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTCTGTCAGTGATGACAGAGT	0.423000													27	107					0	0	1	0	0
LSM14B	149986	broad.mit.edu	37	20	60704841	60704841	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:60704841G>A	ENST00000279068.6	+	4	588	c.428G>A	c.(427-429)gGa>gAa	p.G143E	LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	143					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCAATTCAGGAGCTGGTTTT	0.498000													5	6					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2057272	2057272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:2057272G>A	ENST00000262113.4	+	25	3271	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D469N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1044					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTATCACCAGATGCCAGCTA	0.463000													37	45					0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769668	125769668	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:125769668G>A	ENST00000425380.2	+	3	1186	c.405G>A	c.(403-405)ctG>ctA	p.L135L	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.L135L|HYLS1_ENST00000356438.3_Silent_p.L135L	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	135						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GACAAAGGCTGATGAATGTAC	0.383000													52	118					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21485566	21485566	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:21485566G>A	ENST00000313654.9	+	52	6937	c.6696G>A	c.(6694-6696)atG>atA	p.M2232I	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.M2176I|LAMA3_ENST00000269217.6_Missense_Mutation_p.M623I|LAMA3_ENST00000587184.1_Missense_Mutation_p.M567I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2232	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCCAAGATGACACAAAAGA	0.448000													44	98					0	0	1	0	0
FCGR1B	2210	broad.mit.edu	37	1	120930097	120930097	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:120930097G>A	ENST00000369384.4	-	4	546	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Silent_p.C76C|FCGR1B_ENST00000472543.1_5'UTR	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	168	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCATGCCTGAGCAATGGTAGG	0.418000													37	230					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815563	95815563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:95815563G>A	ENST00000295208.2	-	5	1129	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ZNF514_ENST00000411425.1_Nonsense_Mutation_p.Q223*	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGACATCGCTGATGGCGCCTA	0.438000													48	178					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70249966	70249966	+	Missense_Mutation	SNP	C	C	G	rs75847008		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:70249966C>G	ENST00000342771.4	+	16	2506	c.2185C>G	c.(2185-2187)Cct>Gct	p.P729A	AUTS2_ENST00000406775.2_Missense_Mutation_p.P705A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	729										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGGGCCACCTCCTCATCACAG	0.507000													14	62					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52436887	52436887	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:52436887C>G	ENST00000460680.1	-	15	2362	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	BAP1_ENST00000296288.5_Splice_Site_p.E613Q	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	631	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E631_A634del(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCAGCAGCTCCTGCCAAAAC	0.567000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							18	84					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86200279	86200279	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:86200279G>A	ENST00000257770.3	+	7	1313	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	NT5E_ENST00000369651.3_Intron	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	422					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AGGCACATTTGACCTAGTCCA	0.517000													23	59					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4905823	4905823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:4905823C>G	ENST00000320785.5	+	7	851	c.494C>G	c.(493-495)tCt>tGt	p.S165C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	165	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						AGTCGGGGTTCTCTGCGGGTC	0.547000													146	64					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171809	104171809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:104171809C>T	ENST00000374861.3	+	3	2001	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	ZNF189_ENST00000259395.4_Nonsense_Mutation_p.Q545*|ZNF189_ENST00000339664.2_Nonsense_Mutation_p.Q587*	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	587					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGTCAACCATCAGAAGATCCA	0.423000													25	55					0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64010754	64010754	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64010754C>T	ENST00000394540.3	+	3	725	c.255C>T	c.(253-255)gtC>gtT	p.V85V	FKBP2_ENST00000309366.4_Silent_p.V85V|FKBP2_ENST00000449942.2_Silent_p.V85V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	85	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						CAGGCCAGGTCATCAAGGGCT	0.622000													17	57					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95569761	95569761	+	Silent	SNP	C	C	T	rs45562437	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:95569761C>T	ENST00000526495.1	-	23	4263	c.3972G>A	c.(3970-3972)aaG>aaA	p.K1324K	DICER1_ENST00000393063.1_Silent_p.K1324K|DICER1_ENST00000527414.1_Silent_p.K1324K|DICER1_ENST00000541352.1_Silent_p.K1324K|DICER1_ENST00000556045.1_Silent_p.K222K|DICER1_ENST00000343455.3_Silent_p.K1324K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1324	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.K1324K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGATGGCATGCTTTAAAAAGG	0.428000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	63					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128291416	128291416	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:128291416G>A	ENST00000368227.3	-	31	4696	c.4330C>T	c.(4330-4332)Cgt>Tgt	p.R1444C	PTPRK_ENST00000368210.3_Missense_Mutation_p.R1445C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1459C|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1449C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1433C|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1426C|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1427C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1426					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAGCAGAAACGGTATTGCTCC	0.373000													19	59					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91090081	91090081	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:91090081G>A	ENST00000375859.3	+	6	956	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SPIN1_ENST00000541629.1_Silent_p.S226S|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	226					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AAGATGGCTCGAAAAGGACTG	0.418000													21	103					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091828	29091828	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29091828C>T	ENST00000544772.1	-	12	1902	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CHEK2_ENST00000382580.2_Missense_Mutation_p.E420K|CHEK2_ENST00000404276.1_Missense_Mutation_p.E377K|CHEK2_ENST00000348295.3_Missense_Mutation_p.E348K|CHEK2_ENST00000405598.1_Missense_Mutation_p.E377K|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.E286K|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.E286K|CHEK2_ENST00000328354.6_Missense_Mutation_p.E377K|CHEK2_ENST00000402731.1_Missense_Mutation_p.E348K	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	377	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGAGAGGTCTCTCCCAAAATC	0.423000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					22	74					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659691	77659691	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:77659691G>A	ENST00000316249.3	+	2	1276	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	426					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCAGCCCCGAGCCGGCCCT	0.706000													10	13					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232326368	232326368	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:232326368C>T	ENST00000322723.4	-	3	736	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	166	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcatcttcatcctcatcctcg	0.517000													20	24					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15663055	15663055	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:15663055A>T	ENST00000338950.5	-	1	151	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	DTNBP1_ENST00000355917.3_Missense_Mutation_p.F16I|DTNBP1_ENST00000344537.5_Missense_Mutation_p.F16I	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	16					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CCGGAGGTGAAATCCTGCTGC	0.716000									Hermansky-Pudlak syndrome				25	166					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047421	156047421	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:156047421C>T	ENST00000532414.2	-	2	506	c.507G>A	c.(505-507)ccG>ccA	p.P169P	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	169	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCCCTCACCGGTGTCTTGA	0.587000													10	16					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219544683	219544683	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219544683C>A	ENST00000295709.3	+	9	1295	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	STK36_ENST00000440309.1_Missense_Mutation_p.A339D|STK36_ENST00000392105.3_Missense_Mutation_p.A339D|STK36_ENST00000392106.2_Missense_Mutation_p.A339D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	339					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTGGCACAGCCCCTCTGCCC	0.577000													20	103					3.99206e-14	4.29707e-14	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47887564	47887564	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:47887564G>C	ENST00000396105.1	-	3	1031	c.785C>G	c.(784-786)tCt>tGt	p.S262C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S262C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S262C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	262							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTGCACAGAGCTGGCAGG	0.507000													26	107					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32559388	32559388	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:32559388G>A	ENST00000286827.3	-	15	3062	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S804F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	864	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTTCCACAGAAGAAAGTGA	0.458000													44	334					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56382202	56382202	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:56382202C>T	ENST00000301295.6	+	7	2786	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	NLRP4_ENST00000346986.5_Silent_p.F732F|NLRP4_ENST00000587891.1_Silent_p.F713F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	788							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)		GGTTGGCTTTCTGCCACCTCA	0.483000													59	48					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27216530	27216530	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:27216530G>A	ENST00000361042.4	+	3	348	c.123G>A	c.(121-123)ctG>ctA	p.L41L	WASF3_ENST00000335327.5_Silent_p.L41L|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	41					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TACGCCAGCTGAGCAGTCTGA	0.418000													69	140					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238916	3238916	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:3238916G>C	ENST00000217939.6	-	5	4964	c.4810C>G	c.(4810-4812)Caa>Gaa	p.Q1604E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1604						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTTAGTTGATGAGAAGCA	0.483000													42	82					0	0	1	0	0
TRPT1	83707	broad.mit.edu	37	11	63991404	63991404	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:63991404C>G	ENST00000394546.2	-	8	925	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	TRPT1_ENST00000546133.1_Missense_Mutation_p.E94Q|TRPT1_ENST00000317459.6_Missense_Mutation_p.E236Q|TRPT1_ENST00000541278.1_Missense_Mutation_p.E199Q|TRPT1_ENST00000394547.3_Missense_Mutation_p.E187Q|TRPT1_ENST00000546089.1_Missense_Mutation_p.E150Q	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	236							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						CTCTGACACTCTGTCTCTTCA	0.403000													13	116					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53216964	53216964	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:53216964G>C	ENST00000330553.5	-	7	1237	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	401	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCATCCTTGAGTGCCAGCT	0.617000													24	43					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219209680	219209680	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219209680G>A	ENST00000273077.4	+	10	1185	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	PNKD_ENST00000258362.3_Silent_p.L354L|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.L318L	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	378	Substrate (By similarity).					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGCCGGCTGAAGGATATGC	0.682000													14	42					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33927868	33927868	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:33927868G>A	ENST00000389232.4	+	26	3299	c.3229G>A	c.(3229-3231)Gag>Aag	p.E1077K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1077K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1077	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCCGGGTAGAGCGATCTTA	0.522000													14	31					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96854279	96854279	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:96854279C>G	ENST00000324765.8	+	27	3616	c.3269C>G	c.(3268-3270)tCa>tGa	p.S1090*	DIAPH2-AS1_ENST00000445414.1_RNA|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.S1086*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.S1090*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1090					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGGAAAGGTCACGCTCTCGC	0.353000													7	3					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694861	247694861	+	Missense_Mutation	SNP	G	G	A	rs147306837		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:247694861G>A	ENST00000366487.3	-	2	1314	c.953C>T	c.(952-954)gCg>gTg	p.A318V	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A317V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTAAATTTGCGCCAGCTTGCC	0.512000													16	42					0	0	1	0	0
MT1L	4500	broad.mit.edu	37	16	56652093	56652093	+	RNA	SNP	G	G	A	rs2001986	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:56652093G>A	ENST00000565768.1	+	0	118					NR_001447.2				metallothionein 1L (gene/pseudogene)																		CCTTGCAGGGGGCTCCTGCTC	0.572000													5	93					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2544739	2544739	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:2544739A>C	ENST00000319888.6	-	7	1892	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	METTL4_ENST00000574538.1_Missense_Mutation_p.F365C			Q8N3J2	METL4_HUMAN	methyltransferase like 4	365					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGGGAACACAAATTCTCCTGA	0.403000													22	82					0	0	1	0	0
RWDD1	51389	broad.mit.edu	37	6	116914146	116914146	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:116914146G>C	ENST00000466444.2	+	7	830	c.614G>C	c.(613-615)gGa>gCa	p.G205A	RWDD1_ENST00000487832.2_Missense_Mutation_p.G109A|RWDD1_ENST00000392526.1_Missense_Mutation_p.G109A	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	205							protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TTTGCAGCTGGAAACAACGTG	0.393000													7	44					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39741425	39741425	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:39741425G>A	ENST00000361337.2	+	14	1562	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	438					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TTTACAGGGTGAGAAGGACTG	0.463000			T	NUP98	AML*								8	53					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87072646	87072646	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:87072646C>T	ENST00000265723.4	-	12	1456	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ABCB4_ENST00000359206.3_Missense_Mutation_p.D449N|ABCB4_ENST00000545634.1_Missense_Mutation_p.D449N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D449N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D449N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	449	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGCCCTCATCAGGGTCATAG	0.507000													83	268					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46911162	46911162	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:46911162C>T	ENST00000359759.4	+	21	3357	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	COL18A1_ENST00000355480.5_Silent_p.V877V|COL18A1_ENST00000400337.2_Silent_p.V697V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1112	Triple-helical region 4 (COL4).			V -> L (in Ref. 5; AAA51864).	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGACGGAGTCGGGCAGCCGG	0.682000													5	87					0	0	1	0	0
LY86-AS1	285780	broad.mit.edu	37	6	6347454	6347454	+	RNA	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:6347454G>A	ENST00000429345.1	-	0	1184					NR_026970.1																						CACAGTTGGAGAAGTTGGAGA	0.493000													7	19					0	0	1	0	0
MIRLET7A2	406882	broad.mit.edu	37	11	122017296	122017296	+	RNA	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:122017296C>T	ENST00000362105.1	-	0	5					NR_029477.1																						CCTACTACCTCAACCTGGGAG	0.408000													47	63					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57684430	57684430	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:57684430G>C	ENST00000451169.2	+	21	2452	c.2093G>C	c.(2092-2094)aGa>aCa	p.R698T	DHX40_ENST00000251241.4_Missense_Mutation_p.R746T|DHX40_ENST00000425628.3_Missense_Mutation_p.R669T			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	746							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAATGCAAAGAAGAAATGAT	0.388000													19	79					0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12856314	12856314	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12856314G>T	ENST00000591090.1	+	4	535	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S	ASNA1_ENST00000357332.3_Missense_Mutation_p.A145S			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	145					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CATCGATGAGGCCATGAGCTA	0.627000													20	55					8.28177e-16	8.97504e-16	1	1	0
IKBIP	121457	broad.mit.edu	37	12	99028127	99028127	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:99028127C>G	ENST00000299157.4	-	2	617	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Missense_Mutation_p.E82Q|IKBIP_ENST00000420861.1_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	82					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						TCATTGGTTTCTAGTTTCAGT	0.328000													9	55					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583404	2583404	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:2583404G>A	ENST00000340611.4	-	5	879	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	208					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGTGGCCGCGGAGCACAAGGA	0.677000													44	149					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	824500	824500	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:824500G>A	ENST00000293892.3	-	8	1740	c.1741C>T	c.(1741-1743)Cct>Tct	p.P581S	MSLNL_ENST00000442466.1_Missense_Mutation_p.P230S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	230					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGGAGCCAGGGGGCCTTGTG	0.716000													7	3					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	433382	433382	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:433382G>A	ENST00000332826.6	-	4	366	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	94						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGCTCCAGGAGGAAAGTGC	0.647000													19	75					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152394433	152394433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:152394433G>A	ENST00000397345.3	-	140	21257	c.21055C>T	c.(21055-21057)Cgt>Tgt	p.R7019C	NEB_ENST00000604864.1_Missense_Mutation_p.R7019C|NEB_ENST00000172853.10_Missense_Mutation_p.R5318C|NEB_ENST00000603639.1_Missense_Mutation_p.R7019C|NEB_ENST00000409198.1_Missense_Mutation_p.R5318C|NEB_ENST00000427231.2_Missense_Mutation_p.R7019C	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	5318					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCTCTGGACGATCAGGAATG	0.403000													9	42					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930623	42930623	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:42930623C>T	ENST00000244289.4	-	1	955	c.679G>A	c.(679-681)Gag>Aag	p.E227K	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	227					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGACCCACTCAGAAAGTGCC	0.493000													90	71					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184792404	184792404	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:184792404C>G	ENST00000367511.3	-	8	1075	c.882G>C	c.(880-882)ttG>ttC	p.L294F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	294					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATTCCTCCTTCAAGGCACTTA	0.458000													15	242					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101584864	101584864	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:101584864C>T	ENST00000335681.5	+	11	1314	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	NPAS2_ENST00000542504.1_Silent_p.F408F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	343	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCGAGTTCATCGTGTGCA	0.612000													19	79					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37868558	37868558	+	Silent	SNP	G	G	A	rs11548403		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:37868558G>A	ENST00000356998.3	-	7	1045	c.822C>T	c.(820-822)ctC>ctT	p.L274L	MFNG_ENST00000416983.3_Silent_p.L260L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	274					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CACCGTAGCTGAGGGTGACCT	0.602000											OREG0026538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	119					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607086	84607086	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:84607086G>A	ENST00000344803.2	+	4	1748	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCAAACCCTGCCCCAAGGTC	0.517000													25	122					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158397605	158397605	+	Missense_Mutation	SNP	C	C	G	rs149435555		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:158397605C>G	ENST00000243349.8	-	7	1582	c.1222G>C	c.(1222-1224)Gga>Cga	p.G408R	ACVR1C_ENST00000409680.3_Missense_Mutation_p.G358R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G251R|ACVR1C_ENST00000335450.7_Missense_Mutation_p.G328R	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTTACCTCCGACTGAACAC	0.373000													33	181					0	0	1	0	0
EIF1	10209	broad.mit.edu	37	17	39846394	39846394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:39846394C>T	ENST00000469257.1	+	3	396	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Nonsense_Mutation_p.Q84*|EIF1_ENST00000310837.4_3'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	84					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGAAGTAATTCAGCTACAGGG	0.458000													15	108					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5923084	5923084	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:5923084T>C	ENST00000203001.2	-	7	1146	c.1016A>G	c.(1015-1017)aAa>aGa	p.K339R	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.K169R	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	339					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAATCTTTTTTGCTTCCTCT	0.453000													78	50					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518587	113518587	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:113518587C>T	ENST00000284601.3	-	4	2628	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	854					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTGATATTCTGTAATGACC	0.378000													38	150					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727428	36727428	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36727428C>G	ENST00000456324.1	+	3	1535	c.86C>G	c.(85-87)tCa>tGa	p.S29*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Nonsense_Mutation_p.S29*	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	29					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGCCACAAATCAAACCTCACT	0.423000													23	76					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1																						CAGCTTCTTCCGCAGGAGGTC	0.647000													3	28					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127981020	127981020	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:127981020G>A	ENST00000254730.6	+	3	628	c.574G>A	c.(574-576)Gag>Aag	p.E192K	EEFSEC_ENST00000483457.1_Missense_Mutation_p.E192K	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	192						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGGGGGACCAGAGGCCCCCGA	0.557000													20	162					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518308	195518308	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:195518308C>G	ENST00000463781.3	-	2	602	c.143G>C	c.(142-144)gGc>gCc	p.G48A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G48A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	48					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.G48V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTTGTTGAGCCTGTTGAGGT	0.463000													49	258					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933956	73933956	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:73933956C>G	ENST00000476977.1	+	6	2514	c.823C>G	c.(823-825)Cct>Gct	p.P275A	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P275A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P275A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P307A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	275						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGGAAGCACCTTCCTGCCC	0.657000													13	55					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696178	222696178	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:222696178G>A	ENST00000343410.6	-	9	1998	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	647					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGCACTGGAAGATTTTCTAGC	0.433000													22	150					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207009731	207009731	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:207009731C>T	ENST00000233190.6	-	9	1023	c.757G>A	c.(757-759)Gta>Ata	p.V253I	NDUFS1_ENST00000455934.2_Missense_Mutation_p.V267I|NDUFS1_ENST00000457011.1_Missense_Mutation_p.V137I|NDUFS1_ENST00000440274.1_Missense_Mutation_p.V217I|NDUFS1_ENST00000449699.1_Missense_Mutation_p.V253I|NDUFS1_ENST00000423725.1_Missense_Mutation_p.V196I|NDUFS1_ENST00000432169.1_Missense_Mutation_p.V142I	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATCCATTACATCAATGGAT	0.378000													14	73					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149013	142149013	+	RNA	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:142149013G>A	ENST00000390372.3	-	0	264																											TAGGGAACTGGCGAGCTGAGA	0.532000													34	114					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153910053	153910053	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153910053C>G	ENST00000361217.4	-	15	2561	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	715										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAAGAGACTCAAACAACTCA	0.607000													7	32					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110002954	110002954	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:110002954C>T	ENST00000545712.2	-	4	711	c.318G>A	c.(316-318)aaG>aaA	p.K106K	MMAB_ENST00000266839.5_Silent_p.K15K|MMAB_ENST00000540016.1_Silent_p.K54K	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	106					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTATGGCCCTTTTCTGTGA	0.463000													38	120					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81746948	81746948	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:81746948C>G	ENST00000550584.2	-	16	2239	c.1944G>C	c.(1942-1944)acG>acC	p.T648T	PPFIA2_ENST00000549396.1_Silent_p.T648T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549325.1_Silent_p.T630T|PPFIA2_ENST00000552948.1_Silent_p.T648T|PPFIA2_ENST00000550359.2_Silent_p.T495T|PPFIA2_ENST00000333447.7_Silent_p.T630T|PPFIA2_ENST00000548586.1_Silent_p.T648T|PPFIA2_ENST00000407050.4_Silent_p.T574T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Silent_p.T215T|PPFIA2_ENST00000443686.3_Silent_p.T549T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	574										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCATGGCTAGCGTCTGGGCAT	0.383000													33	112					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799755	119799755	+	Silent	SNP	C	C	A	rs138355819		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:119799755C>A	ENST00000355624.3	-	2	1114	c.675G>T	c.(673-675)gcG>gcT	p.A225A	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.A225A	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	225					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ACATTGAATGCGCTGACGAGA	0.443000													36	134					4.34086e-07	4.51035e-07	1	1	0
NOL11	25926	broad.mit.edu	37	17	65733721	65733721	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:65733721G>T	ENST00000253247.4	+	12	1431	c.1316G>T	c.(1315-1317)gGa>gTa	p.G439V	NOL11_ENST00000535137.1_Missense_Mutation_p.G257V	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	439						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGTAACAGGACTTCTGGAA	0.423000													85	175					1.3466e-33	1.49311e-33	1	1	0
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.517000		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)			26	12					5.61819e-17	6.14409e-17	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6588563	6588563	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:6588563C>G	ENST00000254579.6	+	36	12388	c.11824C>G	c.(11824-11826)Ctg>Gtg	p.L3942V	DNHD1_ENST00000527990.2_Missense_Mutation_p.L3942V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3942					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGCTTTGGCTCTGCTGCAAGC	0.597000													17	47					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35867471	35867471	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:35867471G>C	ENST00000303115.3	+	3	414	c.285G>C	c.(283-285)gaG>gaC	p.E95D	IL7R_ENST00000511982.1_Missense_Mutation_p.E95D|IL7R_ENST00000343305.4_Missense_Mutation_p.E95D|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Missense_Mutation_p.E95D	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	95					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTTCATCGAGACAAAGAAAT	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						26	216					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31503186	31503186	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:31503186C>G	ENST00000417556.2	-	7	1368	c.738G>C	c.(736-738)ttG>ttC	p.L246F	DDX39B_ENST00000458640.1_Missense_Mutation_p.L231F|DDX39B_ENST00000376177.2_Missense_Mutation_p.L231F|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000396172.1_Missense_Mutation_p.L231F|DDX39B_ENST00000415382.2_Missense_Mutation_p.L153F|DDX39B_ENST00000453105.2_Missense_Mutation_p.L184F			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	231	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTCTTTGCTCAAGGTAGCAC	0.517000													24	110					0	0	1	0	0
UBE2J1	51465	broad.mit.edu	37	6	90045107	90045107	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:90045107C>G	ENST00000435041.2	-	6	750	c.472G>C	c.(472-474)Gat>Cat	p.D158H		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	158						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		AACAGGACATCCTTCATGGCA	0.358000													21	54					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64699064	64699064	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64699064A>G	ENST00000164133.2	+	10	1601	c.979A>G	c.(979-981)Acc>Gcc	p.T327A		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	327					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTGGCCAAAAACCTGCACCCA	0.587000													3	16					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12863496	12863496	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12863496A>T	ENST00000549706.1	+	2	414	c.90A>T	c.(88-90)aaA>aaT	p.K30N	BEST2_ENST00000553030.1_Missense_Mutation_p.K30N|BEST2_ENST00000042931.1_Missense_Mutation_p.K30N			Q8NFU1	BEST2_HUMAN	bestrophin 2	30					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCATCTACAAACTCCTGTGGC	0.627000													18	31					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712404	32712404	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:32712404C>G	ENST00000265074.8	+	1	865	c.522C>G	c.(520-522)ctC>ctG	p.L174L	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.L174L|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	174					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACTCGCACCTCACGCGCGTGG	0.682000													10	112					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318315	113318315	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:113318315C>A	ENST00000297405.5	-	51	8236	c.7992G>T	c.(7990-7992)ttG>ttT	p.L2664F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2560F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2594F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2624F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2664	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGGATGACAATCGATATC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	106					5.8336e-16	6.36514e-16	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61615899	61615899	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:61615899C>G	ENST00000583023.1	+	8	1841	c.1830C>G	c.(1828-1830)ttC>ttG	p.F610L	KCNH6_ENST00000581784.1_Missense_Mutation_p.F557L|KCNH6_ENST00000456941.2_Missense_Mutation_p.F557L|KCNH6_ENST00000314672.5_Missense_Mutation_p.F610L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	610					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCGTCAAGTTCAAGACCACCC	0.677000													10	9					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174338	51174338	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:51174338C>T	ENST00000440970.1	-	2	1935	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E599K|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	599					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGCTGACTCAGGGCCCCCG	0.602000													10	50					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32133998	32133998	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:32133998C>G	ENST00000312561.4	+	4	523	c.109C>G	c.(109-111)Cag>Gag	p.Q37E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		CACAACATCTCAGAGTTCTTT	0.393000													23	120					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108782032	108782032	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:108782032C>T	ENST00000232603.5	-	10	944	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MORC1_ENST00000483760.1_Missense_Mutation_p.E288K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	288					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTAACTTCATCTTTAAAT	0.308000													16	109					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44129413	44129413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:44129413G>T	ENST00000395673.3	+	2	306	c.250G>T	c.(250-252)Gag>Tag	p.E84*	EXT2_ENST00000343631.3_Nonsense_Mutation_p.E51*|EXT2_ENST00000533608.1_Nonsense_Mutation_p.E51*|EXT2_ENST00000358681.4_Nonsense_Mutation_p.E51*	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	51					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCTATCGAGTCCTCAAA	0.532000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				12	207					3.07112e-06	3.17725e-06	1	1	0
KLRB1	3820	broad.mit.edu	37	12	9752379	9752379	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:9752379G>T	ENST00000229402.3	-	3	289	c.243C>A	c.(241-243)agC>agA	p.S81R		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	81					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TTTTATTCCTGCTCTGTTGAA	0.318000													42	127					5.73435e-26	6.32892e-26	1	1	0
ZNHIT6	54680	broad.mit.edu	37	1	86172186	86172186	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:86172186C>G	ENST00000431532.2	-	3	692	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.E221Q	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	221	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCACAAGTCTCACACCTACAA	0.328000													64	115					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793706	114793706	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:114793706G>A	ENST00000310346.4	-	9	1854	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	TBX5_ENST00000349716.5_Silent_p.I346I|TBX5_ENST00000405440.2_Silent_p.I396I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	396					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGTTGCAGCTGATGTCCTCTA	0.632000													15	72					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44692158	44692158	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:44692158C>T	ENST00000290231.6	-	7	1155	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACTCCCTCCTCAGGGCCTCCT	0.577000													7	63					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050724	81050724	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:81050724G>A	ENST00000334512.5	+	10	1121	c.549G>A	c.(547-549)ggG>ggA	p.G183G	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	183					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGGTCCTTGGGAACCCTATGG	0.567000													15	39					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676596	150676596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:150676596G>A	ENST00000368993.2	-	12	1051	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	HORMAD1_ENST00000368995.4_Nonsense_Mutation_p.Q236*|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.Q309*|HORMAD1_ENST00000361824.2_Nonsense_Mutation_p.Q316*			Q86X24	HORM1_HUMAN	HORMA domain containing 1	316					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTTATACCTGAGAATGAGAA	0.299000													5	77					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030341	44030341	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:44030341C>T	ENST00000269439.7	+	5	749	c.698C>T	c.(697-699)tCc>tTc	p.S233F	RNF165_ENST00000543885.1_Missense_Mutation_p.S41F	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	233							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AGACACACCTCCGCCGTACGG	0.517000													18	87					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816516	43816516	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:43816516G>C	ENST00000382031.1	+	5	3590	c.3559G>C	c.(3559-3561)Gag>Cag	p.E1187Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.E949Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.E949Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	949						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAAACGTAGAGATGTCTGA	0.517000													19	115					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71053436	71053436	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:71053436G>C	ENST00000452400.2	-	14	3192	c.3011C>G	c.(3010-3012)tCt>tGt	p.S1004C	NCOA2_ENST00000267974.4_Missense_Mutation_p.S92C	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1004					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATGACCTGAGACTGAAGCGT	0.498000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	55					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158718985	158718985	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:158718985C>G	ENST00000407559.3	+	18	2523	c.2365C>G	c.(2365-2367)Caa>Gaa	p.Q789E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	789										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTTTCTACTCAAGAAGGTAC	0.393000													3	18					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25729100	25729100	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:25729100C>T	ENST00000349320.3	-	5	813	c.425G>A	c.(424-426)aGt>aAt	p.S142N	RHCE_ENST00000425135.1_Missense_Mutation_p.S158N|RHCE_ENST00000340849.4_Missense_Mutation_p.S158N|RHCE_ENST00000455194.1_Missense_Mutation_p.S158N|RHCE_ENST00000413854.1_Missense_Mutation_p.S158N|RHCE_ENST00000349438.4_Missense_Mutation_p.S158N|RHCE_ENST00000346452.4_Missense_Mutation_p.S158N|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000243186.6_Missense_Mutation_p.S158N|RHCE_ENST00000374352.2_Missense_Mutation_p.S142N|RHCE_ENST00000294413.7_Missense_Mutation_p.S158N			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	158						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATATTACTGATGACCAT	0.532000													35	178					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43891314	43891314	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:43891314G>A	ENST00000562955.1	+	19	2814		c.e19+1		SZT2_ENST00000372442.1_Splice_Site	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCGCAAGCTGTGAGTGTCCT	0.577000													15	173					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45837924	45837924	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:45837924C>T	ENST00000397928.1	+	21	3706	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L	TRPM2_ENST00000300482.5_Silent_p.L1087L|TRPM2_ENST00000300481.9_Silent_p.L1067L|TRPM2_ENST00000397932.2_Silent_p.L1087L|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1087						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCATCCTCCTCAGCCACCTGC	0.627000													22	234					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566112	19566112	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:19566112G>C	ENST00000328041.6	+	6	733	c.536G>C	c.(535-537)gGa>gCa	p.G179A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	179						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCGATGTGGGAGTTGGCACC	0.547000													42	154					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	45993797	45993797	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:45993797C>T	ENST00000376741.4	+	3	497	c.360C>T	c.(358-360)atC>atT	p.I120I	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	120					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCACCATGATCAACAAAGGGA	0.507000													31	99					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47716863	47716863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:47716863G>A	ENST00000360380.3	-	18	4172	c.3809C>T	c.(3808-3810)tCa>tTa	p.S1270L	STIL_ENST00000243182.6_Missense_Mutation_p.S1270L|STIL_ENST00000371877.3_Missense_Mutation_p.S1271L|STIL_ENST00000396221.2_Missense_Mutation_p.S1253L|STIL_ENST00000337817.5_Missense_Mutation_p.S1270L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1270					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGTGCCTACTGAATTCATGCT	0.383000													82	70					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903928	37903928	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:37903928C>T	ENST00000261439.4	+	2	567	c.212C>T	c.(211-213)tCt>tTt	p.S71F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S71F|TBC1D1_ENST00000402522.1_Missense_Mutation_p.S71F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	71						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GTTTCACCCTCTGGACTGAGA	0.547000													24	128					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171751	153171751	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:153171751C>T	ENST00000358927.2	+	3	1000	c.791C>T	c.(790-792)gCa>gTa	p.A264V	AVPR2_ENST00000370049.1_Missense_Mutation_p.A264V|AVPR2_ENST00000337474.5_Missense_Mutation_p.A264V			P30518	V2R_HUMAN	arginine vasopressin receptor 2	264					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACGTGTCAGCAGCTGTGGCC	0.657000													19	18					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137964026	137964026	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:137964026G>A	ENST00000358441.2	+	13	1478	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	ARMC8_ENST00000471453.1_Missense_Mutation_p.V365M|ARMC8_ENST00000489213.1_Missense_Mutation_p.V337M|ARMC8_ENST00000485396.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000538260.1_Splice_Site|ARMC8_ENST00000470821.1_Missense_Mutation_p.V379M|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000469044.1_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000491704.1_Splice_Site	NM_014154.3|NM_213654.2	NP_054873.2|NP_998819.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	379							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CCGGAAGAAGGTGAGTCTGGG	0.517000													23	74					0	0	1	0	0
ITPKA	3706	broad.mit.edu	37	15	41793928	41793928	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:41793928C>T	ENST00000260386.5	+	3	735	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	228					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGACGCGCTGCGCGGCTGCGT	0.682000													5	13					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6262698	6262698	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:6262698G>T	ENST00000379775.4	+	8	1031	c.701G>T	c.(700-702)cGc>cTc	p.R234L	PFKFB3_ENST00000379785.1_Missense_Mutation_p.R234L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R248L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R214L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.R234L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.R234L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.R234L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	234	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ATCCAGAGCCGCATCGTGTAC	0.622000													16	115					2.35188e-11	2.49237e-11	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60908513	60908513	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:60908513C>T	ENST00000252999.3	-	25	3112	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1016	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGTAGTATGCGCTAGGCAGC	0.682000													5	29					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18823360	18823360	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:18823360C>G	ENST00000446231.2	-	61	11123	c.10711G>C	c.(10711-10713)Gct>Cct	p.A3571P	SMG1_ENST00000389467.3_Missense_Mutation_p.A3572P|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3571					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGAGTATCAGCTGATGTAGCA	0.453000													10	66					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47083838	47083838	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:47083838C>T	ENST00000457458.2	+	3	695	c.275C>T	c.(274-276)tCa>tTa	p.S92L	CDK16_ENST00000357227.4_Missense_Mutation_p.S86L|CDK16_ENST00000518022.1_Missense_Mutation_p.S86L|CDK16_ENST00000276052.6_Missense_Mutation_p.S160L	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	86							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GACCAGGCTTCAGCCACGTCC	0.607000													15	23					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349571	48349571	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:48349571C>T	ENST00000435803.1	+	24	9373	c.9349C>T	c.(9349-9351)Ctg>Ttg	p.L3117L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3117					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCGTAGCTCTGTCTGGAAA	0.502000													21	105					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28057955	28057955	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:28057955G>A	ENST00000263181.6	-	14	2495	c.2205C>T	c.(2203-2205)atC>atT	p.I735I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	735			I -> V (in dbSNP:rs10458896).		blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGTTTGAGCTGATAGCCTGAA	0.353000													56	153					0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52470629	52470629	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:52470629G>A	ENST00000336854.4	+	4	790	c.312G>A	c.(310-312)caG>caA	p.Q104Q	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	104					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		AGTTCTACCAGAAGAAGAAGT	0.592000													28	53					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39584503	39584503	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:39584503G>A	ENST00000262039.4	+	10	1254	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.E327K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	390					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGCCGATGATGAGGTGCATTA	0.443000										TSP Lung(28;0.18)			7	32					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588052	21588052	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:21588052T>G	ENST00000392288.2	+	2	261	c.152T>G	c.(151-153)tTc>tGc	p.F51C	ZNF493_ENST00000355504.4_Intron|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.F31C|ZNF493_ENST00000339914.6_Missense_Mutation_p.F51C|ZNF493_ENST00000596302.1_Missense_Mutation_p.F51C|ZNF493_ENST00000594390.1_Missense_Mutation_p.F51C	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AACCTGGTCTTCTTGGGTGAG	0.368000													32	222					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10799346	10799346	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:10799346C>G	ENST00000345985.3	-	10	818	c.708G>C	c.(706-708)ttG>ttC	p.L236F	NOL10_ENST00000542668.1_Missense_Mutation_p.L186F|NOL10_ENST00000381685.5_Missense_Mutation_p.L236F|NOL10_ENST00000538384.1_Missense_Mutation_p.L210F	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	236						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CATTAAATTTCAAAGCAGAGA	0.373000													5	17					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047319	67047319	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:67047319C>T	ENST00000315962.4	+	3	809	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	TRIM55_ENST00000276573.7_Silent_p.L146L|TRIM55_ENST00000353317.5_Silent_p.L146L|TRIM55_ENST00000350034.4_Silent_p.L146L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	146						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CACCTGCTCTCTGTGCAAGGT	0.547000													17	126					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926662	157926662	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:157926662G>C	ENST00000389413.3	-	9	1366	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	PTPRN2_ENST00000389418.4_Silent_p.L421L|PTPRN2_ENST00000404321.2_Silent_p.L444L|PTPRN2_ENST00000409483.1_Silent_p.L383L|PTPRN2_ENST00000389416.4_Silent_p.L404L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	421						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTCCATGTCGAGGGGCCTTG	0.592000													31	81					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11090854	11090854	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:11090854C>T	ENST00000537503.1	-	1	1008	c.953G>A	c.(952-954)tGa>tAa	p.*318*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	0					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTAATATATTCAAGATGATTC	0.338000													13	72					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38616877	38616877	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:38616877G>A	ENST00000413689.1	-	20	3770	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1192W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1193W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1139W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1139W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1192W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1192W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1139W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1193W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1193W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1193			R -> Q (in BRS1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R1193W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGCGCAACCGCCACCAGACC	0.612000													7	7					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37450318	37450318	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:37450318G>A	ENST00000234170.5	-	3	2021	c.1876C>T	c.(1876-1878)Cat>Tat	p.H626Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	626					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATACCGGATGATCATCTAGT	0.343000													55	65					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96015214	96015214	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:96015214G>A	ENST00000297954.4	+	8	1884	c.1884G>A	c.(1882-1884)tcG>tcA	p.S628S	WNK2_ENST00000349097.3_Silent_p.S240S|WNK2_ENST00000427277.2_Silent_p.S240S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.S628S|WNK2_ENST00000395475.2_Silent_p.S614S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	628					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACTCAGACTCGCAGAGCAGCC	0.642000													4	3					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111839	3111839	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:3111839C>G	ENST00000263650.7	-	20	2506	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	OSBPL5_ENST00000348039.5_Missense_Mutation_p.E715Q|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E715Q|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E694Q|OSBPL5_ENST00000478260.1_Missense_Mutation_p.E237Q|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E414Q	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	783					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGCAGGACTCAGGCGTGGAT	0.667000													4	34					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670351	10670351	+	Missense_Mutation	SNP	C	C	T	rs45518133	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:10670351C>T	ENST00000312962.6	-	11	998	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	KRI1_ENST00000361821.5_Missense_Mutation_p.V323M	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	327	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTACGGCGCACGGAGGACGCG	0.622000													24	82					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3333838	3333838	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:3333838C>T	ENST00000219069.5	+	1	896	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.S7F|ZNF263_ENST00000574253.1_Missense_Mutation_p.S7F	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	7					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGCCCGGGCTCCCAGGAACGG	0.682000													8	24					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872592	43872592	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:43872592C>T	ENST00000261488.6	-	12	1913	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	ENOX1_ENST00000412891.1_Missense_Mutation_p.E446K	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	446					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AGCTCCACCTCATTCCTGTAG	0.522000													13	151					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33545228	33545228	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:33545228C>G	ENST00000242067.6	+	20	2790	c.2269C>G	c.(2269-2271)Ctg>Gtg	p.L757V	BBS9_ENST00000350941.3_Missense_Mutation_p.L717V|BBS9_ENST00000396127.2_Missense_Mutation_p.L722V|BBS9_ENST00000354265.4_Missense_Mutation_p.L722V|BBS9_ENST00000355070.2_Missense_Mutation_p.L752V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	757					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L757L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGCGGCATTTCTGCCGCTACA	0.488000									Bardet-Biedl syndrome				17	136					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885870	62885870	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:62885870C>G	ENST00000253401.6	-	7	1752	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E316Q|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E265Q|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E216Q|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E297Q|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000495564.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	318	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAGATCAGCTCCGAGCTCCTG	0.592000													16	31					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731089	6731089	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:6731089C>T	ENST00000264080.7	-	17	1494	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	GPR108_ENST00000430424.4_Missense_Mutation_p.V248M|GPR108_ENST00000598626.1_Intron	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	490						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCCGTGAGCACGAAGAAGGCC	0.677000													7	27					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60901556	60901556	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:60901556C>G	ENST00000301765.5	-	3	449	c.217G>C	c.(217-219)Gag>Cag	p.E73Q		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	73					cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.E73K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TTCCGGAGCTCCTGGTATCTA	0.622000													43	120					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89111111	89111111	+	RNA	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:89111111C>A	ENST00000452230.1	-	0	293																											TCAGGGCTTTCAAAGAGTATT	0.468000													14	44					3.27435e-08	3.42449e-08	1	1	0
KDM4D	55693	broad.mit.edu	37	11	94731431	94731431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:94731431C>T	ENST00000335080.5	+	3	1727	c.895C>T	c.(895-897)Cga>Tga	p.R299*	KDM4D_ENST00000536741.1_Nonsense_Mutation_p.R299*	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	299	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCCACTCCGCGATGGATTGA	0.537000													19	81					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4056655	4056655	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:4056655G>C	ENST00000337659.6	+	12	2667	c.2567G>C	c.(2566-2568)cGt>cCt	p.R856P	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R842P	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	856	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGATTTTATCGTGCTCCTGAA	0.383000													30	123					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450093	54450093	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:54450093G>C	ENST00000566473.2	+	6	697	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	ANKFN1_ENST00000318698.2_Missense_Mutation_p.E233Q			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	233										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCCCAGGTGGAGAATGAAGG	0.512000													32	130					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23380296	23380296	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:23380296G>A	ENST00000400181.4	+	5	858	c.754G>A	c.(754-756)Gag>Aag	p.E252K	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.E232K|KDM1A_ENST00000542151.1_Missense_Mutation_p.E252K	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	232	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGACATTTGAGGCTACTCT	0.333000													13	62					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70796903	70796903	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:70796903G>A	ENST00000261776.5	-	11	1446	c.1186C>T	c.(1186-1188)Cac>Tac	p.H396Y	VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	396					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCGTCGAGGTGAAGGGTCACT	0.577000													6	30					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152502	149152502	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:149152502C>T	ENST00000247930.4	-	2	935	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCAGTAGCCTCATGGCCTGGG	0.602000													27	102					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059778	103059778	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:103059778G>A	ENST00000264260.2	+	8	1504	c.915G>A	c.(913-915)gcG>gcA	p.A305A	IL18RAP_ENST00000409369.1_Silent_p.A163A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	305	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TACCTGAGGCGAAAAGGTAAG	0.408000													9	53					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315425	107315425	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:107315425G>A	ENST00000265715.3	+	6	860	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	212					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GATTCATAGTGAGGTACTTGG	0.413000									Pendred syndrome				57	181					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639030	179639030	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:179639030G>C	ENST00000589042.1	-	30	7185	c.6961C>G	c.(6961-6963)Cag>Gag	p.Q2321E	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q2275E|TTN_ENST00000460472.2_Missense_Mutation_p.Q2275E|TTN_ENST00000360870.5_Missense_Mutation_p.Q2321E|TTN_ENST00000591111.1_Missense_Mutation_p.Q2321E|TTN_ENST00000342175.6_Missense_Mutation_p.Q2275E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q2321E|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2036	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGGTTCTGACGTCCACGA	0.403000													24	121					0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61784042	61784042	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:61784042C>T	ENST00000245865.5	-	9	837	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	STRADA_ENST00000447001.3_Missense_Mutation_p.E227K|STRADA_ENST00000579340.1_Silent_p.V155V|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.E242K|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.E213K|STRADA_ENST00000392950.4_Missense_Mutation_p.E234K|STRADA_ENST00000336174.6_Missense_Mutation_p.E271K			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	271	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGCCAGTTCACAGGCTGTG	0.512000													39	203					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681818	36681818	+	Silent	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:36681818C>A	ENST00000216181.5	-	37	5390	c.5160G>T	c.(5158-5160)gcG>gcT	p.A1720A	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1720					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTCCTCTAACGCCAGGGCTC	0.672000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				2	8					1	1	1	1	0
MYO16	23026	broad.mit.edu	37	13	109777464	109777464	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:109777464C>G	ENST00000356711.2	+	30	3600	c.3474C>G	c.(3472-3474)atC>atG	p.I1158M	MYO16_ENST00000357550.2_Missense_Mutation_p.I1158M|MYO16_ENST00000457511.2_Missense_Mutation_p.I670M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1158	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAAAAGTTATCAGAGGATTTT	0.383000													17	45					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85066332	85066332	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:85066332C>G	ENST00000335459.5	-	3	990	c.785G>C	c.(784-786)cGg>cCg	p.R262P	TRABD2A_ENST00000409133.1_Missense_Mutation_p.R311P|TRABD2A_ENST00000409520.2_Missense_Mutation_p.R311P	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GGCCTTCACCCGCTTCCCTAT	0.527000													20	52					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52339252	52339252	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:52339252G>A	ENST00000356297.4	-	13	1692	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S531L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	531	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCATGACATGAAATGTTTAT	0.358000													5	31					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	419731	419731	+	RNA	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:419731G>T	ENST00000451020.2	-	0	1307					NR_002451.2																						AAAAAGGCCTGAGACAGAGGG	0.458000													15	50					2.31682e-05	2.38145e-05	1	1	0
RNF121	55298	broad.mit.edu	37	11	71668300	71668300	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:71668300G>C	ENST00000361756.3	+	2	452	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000530137.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	31						integral to membrane	zinc ion binding	p.E31Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTCTCCAGAAGAGCAATGGAG	0.443000													21	103					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36695011	36695011	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:36695011G>A	ENST00000216181.5	-	24	3284	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1018					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGAGCTTGGCGAGGCTCTTAG	0.562000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				22	57					0	0	1	0	0
MSMP	692094	broad.mit.edu	37	9	35754000	35754000	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:35754000G>C	ENST00000436428.2	-	1	266	c.127C>G	c.(127-129)Caa>Gaa	p.Q43E	RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_Intron	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	43						extracellular region				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						ACTTTACCTTGAGCTTGGAAG	0.552000													428	245					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153744827	153744827	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153744827C>G	ENST00000456435.1	+	27	3300	c.2114C>G	c.(2113-2115)tCt>tGt	p.S705C	INTS3_ENST00000318967.2_Missense_Mutation_p.S911C|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.S911C|INTS3_ENST00000512605.1_Missense_Mutation_p.S705C			Q68E01	INT3_HUMAN	integrator complex subunit 3	912					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGGAGCTCTAGCAGCAAG	0.592000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	101					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26709224	26709224	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:26709224C>T	ENST00000381340.3	-	36	5322	c.4906G>A	c.(4906-4908)Gaa>Aaa	p.E1636K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1636					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAGCAGTTCTGGACTGTAC	0.473000													46	111					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475934	42475934	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:42475934C>T	ENST00000434000.1	-	9	3559	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E1171K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1171						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGTTCTTGCTCTTCCCCCCTT	0.517000													37	194					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													8	511	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204412694	204412697	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:204412694_204412697delACTG	ENST00000367187.3	-	20	3452_3455	c.2896_2899delCAGT	c.(2896-2901)cagttcfs	p.QF966fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.QF938fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	966					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGGATGCTGAACTGAGAGTCCTTG	0.569													37	254	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													7	234	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65349986	65349987	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349986_65349987insT	ENST00000284037.5	+	21	3229_3230	c.2840_2841insT	c.(2839-2844)gattcafs	p.S948fs	ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.S944fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.S948fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Ins_p.S948fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	948					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCAAGTTTGATTCAAATCATA	0.386													13	69	---	---	---	---					
FAM120B	84498	broad.mit.edu	37	6	170697422	170697423	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:170697422_170697423insCG	ENST00000476287.1	+	7	2439_2440	c.2331_2332insCG	c.(2332-2334)cgcfs	p.R778fs	FAM120B_ENST00000252510.9_Frame_Shift_Ins_p.R110fs|FAM120B_ENST00000540480.1_Frame_Shift_Ins_p.R790fs|FAM120B_ENST00000537664.1_Frame_Shift_Ins_p.R801fs	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	778					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCCTTCTCGTCCGCGGCCTCAC	0.525													17	53	---	---	---	---					
PMS2	5395	broad.mit.edu	37	7	6043619	6043621	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:6043619_6043621delTTC	ENST00000265849.7	-	3	337_339	c.232_234delGAA	c.(232-234)gaadel	p.E78del	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_In_Frame_Del_p.E78del|PMS2_ENST00000441476.2_In_Frame_Del_p.R6del|PMS2_ENST00000382321.4_In_Frame_Del_p.E78del	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	78					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTCGAAGTTTTCTTCTTCTACC	0.315			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				29	301	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559126	56559127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:56559126_56559127insG	ENST00000394023.3	-	27	3312_3313	c.3207_3208insC	c.(3205-3210)ccagggfs	p.G1070fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G1070fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.G1039fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G1070fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1039	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGAACCCCTGGTGGGACTG	0.584													8	166	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)agcfs	p.S1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.S1018fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													11	220	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28511100	28511101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:28511100_28511101insC	ENST00000261609.7	-	13	1726_1727	c.1618_1619insG	c.(1618-1620)gtgfs	p.V540fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	540					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCGGAGATCACCTTAGGCTCC	0.510													7	54	---	---	---	---