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
THAP11	57215	broad.mit.edu	37	16	67877191	67877191	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:67877191C>T	ENST00000303596.1	+	1	979	c.734C>T	c.(733-735)tCg>tTg	p.S245L	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TCCGACCATTCGTACTCCTTG	0.607000													84	807					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92970781	92970781	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:92970781G>C	ENST00000544910.1	+	24	2231	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	CCDC132_ENST00000535481.1_Missense_Mutation_p.E421Q|CCDC132_ENST00000541136.1_Missense_Mutation_p.E512Q|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.E701Q	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	701										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCAGCAGAAGAAAGAAAGGA	0.448000													11	45					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41306707	41306707	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:41306707G>A	ENST00000593726.1	+	1	1258	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R77Q|EGLN2_ENST00000303961.4_Missense_Mutation_p.R77Q			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	77					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGCCCTCTTCGGGACGGTTTT	0.672000													13	42					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020908	156020908	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:156020908G>A	ENST00000368309.3	-	3	563	c.471C>T	c.(469-471)tcC>tcT	p.S157S	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	157						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TACAGAGTATGGACGCAGTAG	0.612000													5	51					0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2785457	2785457	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:2785457C>G	ENST00000380769.4	+	7	1510	c.1279C>G	c.(1279-1281)Cag>Gag	p.Q427E	WRNIP1_ENST00000380764.1_Missense_Mutation_p.Q263E|WRNIP1_ENST00000380773.4_Missense_Mutation_p.Q647E|WRNIP1_ENST00000380771.4_Missense_Mutation_p.Q622E			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	647					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCCTGTGGATCAGGAGTACCT	0.542000													37	143					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27441071	27441071	+	Silent	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr17:27441071A>G	ENST00000527372.1	-	15	2736	c.2556T>C	c.(2554-2556)gaT>gaC	p.D852D	MYO18A_ENST00000531253.1_Silent_p.D852D|MYO18A_ENST00000354329.4_Silent_p.D852D|MYO18A_ENST00000533112.1_Silent_p.D852D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	852	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACAGAGTCATCCGTCGGGG	0.612000													8	15					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525441	248525441	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:248525441G>A	ENST00000366475.1	+	1	559	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCTCAGTGGATGGCTTCAC	0.532000													47	141					0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99912095	99912095	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:99912095C>T	ENST00000409448.1	-	4	355	c.39G>A	c.(37-39)ctG>ctA	p.L13L	LYG1_ENST00000308528.4_Silent_p.L13L			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	13					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						ACTCACCCATCAGGGCAAGGA	0.428000													36	100					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884325	53884325	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:53884325G>A	ENST00000467003.1	+	4	586	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E165K|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TAATCAAGTGGAGAAGTCTAT	0.373000													35	123					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52777487	52777487	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:52777487G>A	ENST00000257951.3	-	2	708	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	214	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAGCTCTCGAAGAGTGGCT	0.547000													17	52					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450437	158450437	+	Missense_Mutation	SNP	C	C	T	rs149832721	byFrequency	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:158450437C>T	ENST00000368152.1	+	1	770	c.770C>T	c.(769-771)gCg>gTg	p.A257V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGACGGAAAGCGTTTTCCACC	0.458000													16	43					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113704128	113704128	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:113704128C>T	ENST00000550785.1	+	5	766	c.597C>T	c.(595-597)gcC>gcT	p.A199A	TPCN1_ENST00000541517.1_Silent_p.A199A|TPCN1_ENST00000392569.4_Silent_p.A59A|TPCN1_ENST00000335509.6_Silent_p.A127A	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	127						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGTGCGAGGCCCCCGCCGTCC	0.652000													104	392					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194365441	194365441	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:194365441C>T	ENST00000265245.5	-	13	1972	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	553					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TACAGGATCTCTTCCAGGAGG	0.448000													8	36					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80747683	80747683	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:80747683G>A	ENST00000509894.1	+	18	2875		c.e18-1		TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000369798.2_Splice_Site			P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTGGCATATAGGTTGGCACAG	0.269000													7	12					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132198210	132198210	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:132198210C>T	ENST00000360971.2	+	18	1822	c.1802C>T	c.(1801-1803)aCg>aTg	p.T601M		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	601					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTGTTTATACGCCAAAGCAT	0.448000													11	17					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													4	153					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322472	31322472	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr17:31322472G>A	ENST00000269053.3	+	2	150	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	SPACA3_ENST00000580599.1_5'UTR|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	27					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AGTGGACCACGGAGGCTGGTG	0.627000													24	109					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54167098	54167098	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:54167098G>A	ENST00000404125.1	-	4	595	c.540C>T	c.(538-540)tgC>tgT	p.C180C	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTACGGTCGGCAGCTTTTCA	0.343000													4	160					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958761	88958761	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:88958761G>A	ENST00000268679.4	-	4	908	c.512C>T	c.(511-513)gCc>gTc	p.A171V	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A85V|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A146V|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A95V|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A85V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	171	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GAGCTGCCGGGCCCCGCAGGC	0.647000			T	RUNX1	AML								7	27					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123470829	123470829	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:123470829G>A	ENST00000280562.5	-	25	3982	c.3777C>T	c.(3775-3777)cgC>cgT	p.R1259R	PITPNM2_ENST00000320201.4_Silent_p.R1265R|PITPNM2_ENST00000542749.1_Silent_p.R1265R|PITPNM2_ENST00000392428.1_Silent_p.R986R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGCCGTGTTGCGAGCGGGCC	0.701000													3	18					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173996910	173996910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:173996910G>A	ENST00000457714.1	+	6	1548	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	NLGN1_ENST00000361589.4_Missense_Mutation_p.M373I|NLGN1_ENST00000401917.3_Missense_Mutation_p.M413I|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.M373I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	390					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGATATTGATGGAGCAAGGAG	0.393000													69	140					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271816	22271816	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:22271816A>G	ENST00000594947.1	+	4	1408	c.1264A>G	c.(1264-1266)Aag>Gag	p.K422E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACTCAGCATAAGATAATTCA	0.373000													13	29					0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66029374	66029374	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:66029374C>T	ENST00000417856.1	+	3	633	c.390C>T	c.(388-390)ctC>ctT	p.L130L	KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000316924.5_Silent_p.L130L|KLC2_ENST00000394067.2_Silent_p.L130L|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394078.1_Silent_p.L130L	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	130					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGCCCAGCTCGAGGAGGAGA	0.627000													22	59					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272427	52272427	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:52272427G>A	ENST00000598776.1	+	2	1288	c.516G>A	c.(514-516)ggG>ggA	p.G172G	FPR2_ENST00000340023.6_Silent_p.G172G|FPR2_ENST00000598953.1_Silent_p.G172G	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	172					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCCAAATGGGGACACATACT	0.498000													33	83					0	0	1	0	0
C1QL4	338761	broad.mit.edu	37	12	49729943	49729943	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:49729943G>A	ENST00000334221.3	-	1	1028	c.318C>T	c.(316-318)taC>taT	p.Y106Y		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	106	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						TGCGAGGCACGTAGCCGGCAG	0.731000													6	26					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	101997810	101997810	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr10:101997810C>T	ENST00000354105.4	-	11	1309	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R163K	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	408							catalytic activity	p.R408I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CTTATAATTTCTCTCAAATAC	0.438000													23	97					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52838906	52838906	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:52838906C>T	ENST00000371568.3	-	17	2751	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	ORC1_ENST00000371566.1_Missense_Mutation_p.V845M	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	845	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGAGCCGCACCCGAAGGAGC	0.562000													6	253					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2818994	2818994	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr20:2818994C>T	ENST00000360652.2	-	6	1227	c.725G>A	c.(724-726)cGt>cAt	p.R242H	PCED1A_ENST00000356872.3_Missense_Mutation_p.R191H	NM_022760.4	NP_073597.2			PC-esterase domain containing 1A																		ATCCCGATGACGGTGCTGTAC	0.597000													61	53					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99912180	99912180	+	Silent	SNP	G	G	A	rs858635		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:99912180G>A	ENST00000332397.6	+	6	1192	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336								p.P336P(10)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGCCCCCCGCGTAGGTCCC	0.577000													3	28					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44919402	44919402	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chrX:44919402G>A	ENST00000377967.4	+	13	1370		c.e13+1		KDM6A_ENST00000382899.4_Intron|KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000536777.1_Intron	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCACAGCAGGTGAGAAGTTG	0.458000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								6	14					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213118	26213118	+	Silent	SNP	T	T	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chrX:26213118T>A	ENST00000379034.1	+	2	1304	c.1155T>A	c.(1153-1155)ggT>ggA	p.G385G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	385	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCAGTCCCGGTTTATACCCAC	0.517000													89	39					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165340	139165340	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr8:139165340G>T	ENST00000395297.1	-	13	1548	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	460										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GACAAGACAAGGTCTTCCCTA	0.373000										HNSCC(54;0.14)			27	27					1.42536e-11	1.54045e-11	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85701312	85701312	+	Silent	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:85701312G>C	ENST00000322366.6	-	26	4721	c.4314C>G	c.(4312-4314)gtC>gtG	p.V1438V	WDFY3_ENST00000295888.4_Silent_p.V1438V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1438						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)		GGTTACTCTTGACCACACAAA	0.502000													33	183					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8110747	8110747	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:8110747A>G	ENST00000223145.5	+	6	1720	c.1163A>G	c.(1162-1164)tAt>tGt	p.Y388C		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	388										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GATTTGCTCTATGATCGTGAT	0.448000													19	91					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54666459	54666459	+	Silent	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:54666459G>C	ENST00000376591.4	-	10	1598	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	TMC4_ENST00000301187.4_Silent_p.L483L|TMC4_ENST00000416963.1_Silent_p.L71L	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	489						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGATCAAAGAGCAGAAGTT	0.572000													10	48					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45630089	45630089	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr20:45630089G>A	ENST00000327619.5	+	3	506	c.132G>A	c.(130-132)ctG>ctA	p.L44L	EYA2_ENST00000357410.3_Silent_p.L44L|EYA2_ENST00000317304.6_Silent_p.L44L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	44					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CGGCCCCCCTGAGAGTGTCCC	0.493000													24	87					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012859	32012859	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:32012859G>T	ENST00000375244.3	-	32	11052	c.10851C>A	c.(10849-10851)agC>agA	p.S3617R	TNXB_ENST00000375247.2_Missense_Mutation_p.S3615R|TNXB_ENST00000451343.1_Missense_Mutation_p.S46R			P22105	TENX_HUMAN	tenascin XB	3662	Fibronectin type-III 28.				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						TGTAGGGGGTGCTGGGCTCCA	0.642000													9	56					1.76689e-08	1.87463e-08	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55569261	55569261	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr10:55569261G>A	ENST00000395445.1	-	36	4943	c.4549C>T	c.(4549-4551)Cct>Tct	p.P1517S	PCDH15_ENST00000409834.1_Silent_p.S1144S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P451S|PCDH15_ENST00000395438.1_Silent_p.S1533S|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P382S|PCDH15_ENST00000395446.1_Missense_Mutation_p.P713S	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCACTAGGCTCTCTAATT	0.388000										HNSCC(58;0.16)			67	117					0	0	1	0	0
CALY	50632	broad.mit.edu	37	10	135139539	135139539	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr10:135139539C>A	ENST00000252939.4	-	5	539	c.446G>T	c.(445-447)gGg>gTg	p.G149V	CALY_ENST00000467611.1_5'UTR|CALY_ENST00000368558.1_3'UTR|ZNF511_ENST00000368554.4_Intron	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	149					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	CGGGTAGGCCCCGATGGCCGC	0.721000													9	14					1.58986e-06	1.67658e-06	1	1	0
SLC25A38	54977	broad.mit.edu	37	3	39437967	39437967	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:39437967A>G	ENST00000273158.4	+	7	1248	c.871A>G	c.(871-873)Acg>Gcg	p.T291A		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	291					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AATGGCGTGGACGGTGTATGA	0.532000													90	152					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766761	57766761	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr20:57766761G>A	ENST00000371030.2	+	1	687	c.687G>A	c.(685-687)agG>agA	p.R229R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	229						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)					CAGAGGGCAGGGGCGAGAGCA	0.682000													64	76					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43378795	43378795	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr20:43378795G>A	ENST00000372861.3	+	2	440	c.309G>A	c.(307-309)acG>acA	p.T103T		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	103						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGCCGGGTACGGACTCCGGCA	0.677000													21	56					0	0	1	0	0
HCG9	10255	broad.mit.edu	37	6	29943099	29943099	+	RNA	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:29943099G>A	ENST00000376800.3	+	0	211																											GGCCCGCCCTGGAGCTGAGAA	0.647000													11	14					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553912	140553912	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr5:140553912C>A	ENST00000231137.3	+	1	1670	c.1496C>A	c.(1495-1497)cCc>cAc	p.P499H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.682000													114	91					1.81606e-51	2.05191e-51	1	1	0
RBM25	58517	broad.mit.edu	37	14	73578313	73578313	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr14:73578313G>A	ENST00000261973.7	+	16	2380	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.E699K	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	699					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TAACAAATTTGAGGATGAAGA	0.398000													26	58					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324416	9324416	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:9324416C>T	ENST00000377403.2	+	5	2166	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	H6PD_ENST00000602477.1_Missense_Mutation_p.R633C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	622	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGTTGACGAGCGCTGCGTCCC	0.677000													4	79					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119042820	119042820	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr10:119042820T>G	ENST00000334464.5	-	5	3663	c.3424A>C	c.(3424-3426)Agc>Cgc	p.S1142R		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1142					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTGATATGCTGCTGAATGGC	0.388000													17	64					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112915503	112915503	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:112915503T>C	ENST00000351677.2	+	8	1100	c.902T>C	c.(901-903)gTt>gCt	p.V301A	PTPN11_ENST00000392597.1_Missense_Mutation_p.V301A	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	301	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AATGAGCCTGTTTCAGATTAC	0.388000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				13	47					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14183662	14183662	+	RNA	SNP	A	A	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr18:14183662A>T	ENST00000581935.1	+	0	513																				lung(3)	3						ACTGCTCTACATTTGGCCTGT	0.378000													10	226					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3670740	3670740	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:3670740G>A	ENST00000294600.2	+	2	461	c.377G>A	c.(376-378)aGg>aAg	p.R126K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	126										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAACTTCGAAGGGTCTTCCCC	0.597000													54	283					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155757608	155757608	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:155757608C>T	ENST00000159060.2	-	7	844	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	248	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTCTGCCATTCTGCATAGCGG	0.458000													26	57					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718512	103718512	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr13:103718512G>C	ENST00000245312.3	-	1	684	c.88C>G	c.(88-90)Cta>Gta	p.L30V		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	30					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCACACTTAGGATGTTATTG	0.468000													39	113					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187803	42187803	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:42187803T>C	ENST00000006724.3	-	3	820	c.619A>G	c.(619-621)Aca>Gca	p.T207A	CEACAM7_ENST00000401731.1_Missense_Mutation_p.T207A|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	207	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCATTCTTTGTGGCGCTGAGT	0.532000													69	171					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245775210	245775210	+	Missense_Mutation	SNP	G	G	A	rs149649213	by1000genomes	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:245775210G>A	ENST00000366518.4	+	6	991	c.887G>A	c.(886-888)cGc>cAc	p.R296H	KIF26B_ENST00000407071.2_Missense_Mutation_p.R677H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	677					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACGACCACCGCAACTCACAC	0.607000													15	44					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739119	164739119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:164739119G>A	ENST00000264382.3	-	27	3214	c.3152C>T	c.(3151-3153)cCa>cTa	p.P1051L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1051	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGGGTGGTTGGAATGTTTAA	0.378000										HNSCC(35;0.089)			73	151					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41560068	41560068	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr22:41560068G>T	ENST00000263253.7	+	22	4959	c.3740G>T	c.(3739-3741)tGt>tTt	p.C1247F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1247					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTGTTGAATGTACAGAGTGC	0.413000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				57	63					2.25088e-17	2.49461e-17	1	1	0
OR52N5	390075	broad.mit.edu	37	11	5799436	5799436	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:5799436G>A	ENST00000317093.2	-	1	461	c.429C>T	c.(427-429)acC>acT	p.T143T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGTGAGTGTGGTAGCATAAC	0.498000													44	13					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99753296	99753296	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:99753296C>T	ENST00000316937.3	-	9	1578	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	C7orf43_ENST00000457641.1_Missense_Mutation_p.E196K|C7orf43_ENST00000394035.2_Missense_Mutation_p.E41K|C7orf43_ENST00000419841.1_Missense_Mutation_p.E233K	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	465										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCCACCTCGAAGAGCCCC	0.602000													68	159					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249212530	249212530	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:249212530G>T	ENST00000355360.4	+	3	1264	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	PGBD2_ENST00000539153.1_Missense_Mutation_p.A580S|PGBD2_ENST00000329291.5_Missense_Mutation_p.A583S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	583										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGTGTCCATGCCAAATGCTT	0.493000													17	76					3.52763e-06	3.69764e-06	1	1	0
FGA	2243	broad.mit.edu	37	4	155505608	155505608	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:155505608A>G	ENST00000302053.3	-	6	2347	c.2269T>C	c.(2269-2271)Tcc>Ccc	p.S757P		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	757	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCATAGGAGGAGACTTGG	0.517000													87	125					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647158	57647158	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:57647158G>C	ENST00000269834.1	-	5	932	c.547C>G	c.(547-549)Caa>Gaa	p.Q183E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGTGACTTTGAAGGCGTGAC	0.403000													31	121					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51968530	51968530	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:51968530C>T	ENST00000232888.6	-	13	1291	c.1218G>A	c.(1216-1218)ggG>ggA	p.G406G		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	406					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGAAGCCTTCCCCACACTGCC	0.642000													38	81					0	0	1	0	0
FBXL8	55336	broad.mit.edu	37	16	67197480	67197480	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:67197480C>T	ENST00000258200.3	+	3	1059	c.882C>T	c.(880-882)ttC>ttT	p.F294F	HSF4_ENST00000264009.8_5'UTR|FBXL8_ENST00000519917.1_Silent_p.F294F|HSF4_ENST00000421453.1_5'UTR			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	294							protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CAGTGCGCTTCGCAGCACACC	0.736000													63	16					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141463727	141463727	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:141463727G>A	ENST00000323570.3	+	7	665		c.e7-1			NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2						phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					AAACTTTTTAGGTATTTCAGT	0.318000													9	16					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2928653	2928653	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr18:2928653T>C	ENST00000261596.4	-	11	1794	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	519					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGCCCAGTTATAGTAACTGTG	0.493000													12	40					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932653	153932653	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:153932653G>A	ENST00000368623.3	-	3	1655	c.896C>T	c.(895-897)tCt>tTt	p.S299F	SLC39A1_ENST00000310483.6_Missense_Mutation_p.S299F|SLC39A1_ENST00000356205.4_Missense_Mutation_p.S299F|SLC39A1_ENST00000368621.1_Missense_Mutation_p.S299F|SLC39A1_ENST00000537590.1_Missense_Mutation_p.S197F			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	299						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCTTTGCTCAGAACTGGCCAG	0.567000													28	257					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48953769	48953769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr13:48953769G>T	ENST00000267163.4	+	14	1510	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	458	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAGTAATGGAATCCATGCT	0.393000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	8					6.40141e-05	6.63003e-05	1	1	0
CFLAR	8837	broad.mit.edu	37	2	202014558	202014558	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:202014558G>A	ENST00000309955.3	+	8	1308	c.793G>A	c.(793-795)Gag>Aag	p.E265K	CFLAR_ENST00000423241.2_Splice_Site_p.E265K|CFLAR_ENST00000340870.5_Splice_Site_p.E265K|CFLAR-AS1_ENST00000598453.1_RNA|CFLAR-AS1_ENST00000598509.1_RNA|CFLAR_ENST00000355558.4_Splice_Site_p.E265K|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000341582.6_Splice_Site_p.E230K|CFLAR-AS1_ENST00000595372.1_RNA|CFLAR_ENST00000457277.1_Splice_Site_p.E265K|CFLAR_ENST00000443227.1_Splice_Site_p.E169K|CFLAR_ENST00000479953.2_Splice_Site_p.E169K|CFLAR_ENST00000342795.5_Splice_Site_p.G265S|CFLAR-AS1_ENST00000594911.1_RNA	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CAATGAGACAGGTAGGTGTGG	0.478000													14	18					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	G	T	rs143537709		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:38888526G>T	ENST00000450244.1	-	26	5233	c.5035C>A	c.(5035-5037)Cgc>Agc	p.R1679S	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641S|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1679S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000													19	114					1.67942e-08	1.79275e-08	1	1	0
SMG5	23381	broad.mit.edu	37	1	156228953	156228953	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:156228953G>A	ENST00000361813.5	-	16	2429	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	762					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GCGCACCACTGACTGTGGGGA	0.632000													24	61					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423620	72423620	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:72423620C>T	ENST00000393605.3	-	1	576	c.21G>A	c.(19-21)cgG>cgA	p.R7R	ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Intron			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	0	SAM.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTCCTGCCCCCGAGACCCAC	0.692000													148	98					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390746	61390746	+	RNA	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr18:61390746G>A	ENST00000544088.1	+	0	1354				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				gcctcagtttgctcatctgca	0.448000													4	15					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67328014	67328014	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:67328014C>G	ENST00000304372.5	-	12	1706	c.1651G>C	c.(1651-1653)Gct>Cct	p.A551P		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	551						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTTCCCTTAGCCTTGTTCCAT	0.567000													544	186					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255074	127255074	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:127255074C>T	ENST00000341640.2	-	2	401	c.196G>A	c.(196-198)Gga>Aga	p.G66R	PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	74	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGCTTCCCCCAATGCCC	0.577000													61	54					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937838	178937838	+	Silent	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:178937838A>G	ENST00000263967.3	+	13	2170	c.2013A>G	c.(2011-2013)ttA>ttG	p.L671L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	671	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTGGCATTTAAAGTAAGTCT	0.254000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	50					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813555	106813555	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr8:106813555G>C	ENST00000407775.2	+	8	1495	c.1245G>C	c.(1243-1245)ttG>ttC	p.L415F	ZFPM2_ENST00000520492.1_Missense_Mutation_p.L283F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L146F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L283F|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	415					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGACTTATTGACCAGAAGCG	0.502000													60	39					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284912	15284912	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:15284912C>T	ENST00000263388.2	-	25	4778	c.4703G>A	c.(4702-4704)cGg>cAg	p.R1568Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1568					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGACGGGCCCGGGGTTCGGA	0.677000													19	75					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225948	67225948	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:67225948G>T	ENST00000438189.2	+	6	787	c.443G>T	c.(442-444)cGa>cTa	p.R148L	CABP4_ENST00000325656.5_Missense_Mutation_p.R253L			P57796	CABP4_HUMAN	calcium binding protein 4	253	EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGATGCTCCGAGAAGTGGAC	0.647000													27	73					1.2476e-16	1.37394e-16	1	1	0
VCAN	1462	broad.mit.edu	37	5	82832829	82832829	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr5:82832829G>A	ENST00000265077.3	+	8	4572	c.4007G>A	c.(4006-4008)cGa>cAa	p.R1336Q	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.R349Q|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1336	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1336L(1)|p.R1336Q(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTTCAGGTCGAATGAGTGAT	0.368000													16	16					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10432223	10432223	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:10432223G>A	ENST00000293677.6	-	7	1377	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	415	Pro-rich.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCAGCTCCCCGAGGAGGGGGT	0.672000													20	66					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189063602	189063602	+	Missense_Mutation	SNP	C	C	T	rs113311676		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:189063602C>T	ENST00000332517.3	+	3	841	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	234					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGATTGAGTCCTCAAGTCAA	0.408000													10	89					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176974	121176974	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:121176974A>G	ENST00000242592.4	+	9	1212	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	ACADS_ENST00000411593.2_Missense_Mutation_p.E350G	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	354						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GCCGCCTCGGAGGCCGCGACC	0.667000													32	62					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170072776	170072776	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:170072776G>C	ENST00000263816.3	-	35	6098	c.5813C>G	c.(5812-5814)aCt>aGt	p.T1938S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1938					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCTCTTCCAGTGACTGCCCA	0.488000													34	59					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29038474	29038474	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr18:29038474C>T	ENST00000257189.4	+	4	366	c.283C>T	c.(283-285)Ccg>Tcg	p.P95S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	95	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATCGATCAGCCGCCTTTTGG	0.443000													35	35					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47201080	47201080	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:47201080T>C	ENST00000539589.1	-	7	1003	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	221					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ATGTCCTCCATGTAGCGTGGA	0.577000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	69					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47155453	47155453	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:47155453C>T	ENST00000409792.3	-	5	4670	c.4628G>A	c.(4627-4629)cGg>cAg	p.R1543Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1543	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTGAAACCGTCTATTGGA	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								41	72					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12545187	12545187	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:12545187C>T	ENST00000444864.1	+	5	1122	c.735C>T	c.(733-735)ctC>ctT	p.L245L	TSEN2_ENST00000415684.1_Silent_p.L245L|TSEN2_ENST00000383797.5_Silent_p.L245L|TSEN2_ENST00000402228.3_Silent_p.L245L|TSEN2_ENST00000454502.2_Silent_p.L186L|TSEN2_ENST00000284995.6_Silent_p.L245L|TSEN2_ENST00000314571.7_Silent_p.L245L	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	245					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ACATCGGCCTCCTGCATCCTG	0.587000													12	44					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870441	88870441	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:88870441G>A	ENST00000303236.3	-	14	3237	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A828V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	979	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTGTGTCTGGCATAAGCTGG	0.488000													4	135					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29105666	29105666	+	Silent	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:29105666A>G	ENST00000409850.1	-	14	1582	c.936T>C	c.(934-936)agT>agC	p.S312S	CPVL_ENST00000265394.5_Silent_p.S312S|CPVL_ENST00000396276.3_Silent_p.S312S			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	312					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TATAGTAATTACTACATCCTG	0.363000													46	47					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262533	45262533	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr5:45262533G>A	ENST00000303230.4	-	8	2220	c.2163C>T	c.(2161-2163)tcC>tcT	p.S721S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	721						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGCGGTGGGGGAGGCATAGT	0.662000													29	39					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34376984	34376984	+	Silent	SNP	G	G	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr18:34376984G>C	ENST00000334295.4	-	7	1114	c.687C>G	c.(685-687)acC>acG	p.T229T	TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000383056.3_Silent_p.T186T|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron|TPGS2_ENST00000593035.1_Silent_p.T194T	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	229						cytoplasm|microtubule											TTGTGTTGTAGGTGATAGGTT	0.408000													38	131					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646981	57646981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:57646981G>A	ENST00000269834.1	-	5	1109	c.724C>T	c.(724-726)Cag>Tag	p.Q242*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCATTTTCTGATGTTGAAAG	0.378000													26	84					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802802	24802802	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:24802802A>G	ENST00000395799.3	+	6	2968	c.2839A>G	c.(2839-2841)Aac>Gac	p.N947D	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N947D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	947	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCAGACTGGAACAAGCAACA	0.532000													36	46					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26029163	26029163	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:26029163T>C	ENST00000435504.4	-	4	480	c.187A>G	c.(187-189)Aac>Gac	p.N63D	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.N35D			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	63					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)					CCTCTGGAGTTTGTGTGAAGC	0.388000													9	18					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254513	155254513	+	Silent	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:155254513C>T	ENST00000357232.4	-	9	1349	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	DCHS2_ENST00000339452.1_Silent_p.T949T|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCGCCTGCACCGTGAGCACAA	0.622000													36	140					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163977	38163977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:38163977C>T	ENST00000346219.3	+	36	5239	c.5218C>T	c.(5218-5220)Cag>Tag	p.Q1740*	DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	NM_007337.2	NP_031363.2	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	0					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCAGCTCTTCAGCACAAAGA	0.582000													22	41					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018310	1018310	+	Silent	SNP	C	C	T	rs142743042	byFrequency	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:1018310C>T	ENST00000398484.2	+	7	1510	c.930C>T	c.(928-930)gaC>gaT	p.D310D	FGFRL1_ENST00000264748.6_Silent_p.D310D|FGFRL1_ENST00000504138.1_Silent_p.D310D|FGFRL1_ENST00000510644.1_Silent_p.D310D			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	310	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCACGGGTGACGTGTGGTCGC	0.647000													41	73					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108724143	108724143	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:108724143T>A	ENST00000232603.5	-	19	1869	c.1787A>T	c.(1786-1788)aAa>aTa	p.K596I	MORC1_ENST00000483760.1_Missense_Mutation_p.K575I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	596					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						AAGCCTGATTTTCTGGGTTTT	0.358000													11	24					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72141432	72141432	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:72141432G>A	ENST00000268482.3	+	20	3303	c.2794G>A	c.(2794-2796)Gcc>Acc	p.A932T	DHX38_ENST00000536867.1_Missense_Mutation_p.A244T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	932					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GATCCTCGGGGCCCTGGACAA	0.602000													185	61					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397678	57397678	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:57397678C>T	ENST00000300101.2	-	2	1109	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CAGGGCATGGCCTTATTCTCC	0.527000													93	125					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261251	51261251	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:51261251A>T	ENST00000395542.2	-	3	465	c.281T>A	c.(280-282)cTt>cAt	p.L94H	COBL_ENST00000395540.2_Missense_Mutation_p.L94H|COBL_ENST00000441453.1_Missense_Mutation_p.L94H|COBL_ENST00000265136.7_Missense_Mutation_p.L94H			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	94										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGGTTCTGAAGGCAAAGTTC	0.428000													12	44					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:156779246C>T	ENST00000392306.2	-	7	920	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	SH2D2A_ENST00000368199.3_Missense_Mutation_p.A251T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	251	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637000													4	124					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128978	68128978	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr17:68128978G>A	ENST00000585558.1	+	4	1243	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCNJ16_ENST00000283936.1_Silent_p.P250P|KCNJ16_ENST00000586462.1_Silent_p.P289P|KCNJ16_ENST00000392671.1_Silent_p.P250P|KCNJ16_ENST00000392670.1_Silent_p.P250P|KCNJ16_ENST00000589377.1_Silent_p.P250P			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	250					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGGTCACCCCGGTAACTATTG	0.448000													40	122					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225669796	225669796	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:225669796G>T	ENST00000409592.3	-	37	4192	c.4079C>A	c.(4078-4080)tCc>tAc	p.S1360Y	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1366Y			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1366							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GAAGAAGTCGGACACCTCTGG	0.388000													5	15					0.000602214	0.000620031	1	1	0
CBWD1	55871	broad.mit.edu	37	9	121973	121973	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr9:121973A>T	ENST00000356521.4	-	14	1157	c.1069T>A	c.(1069-1071)Ttg>Atg	p.L357M	CBWD1_ENST00000475411.1_5'UTR|CBWD1_ENST00000382447.4_Missense_Mutation_p.L338M|CBWD1_ENST00000377400.4_Missense_Mutation_p.L309M|CBWD1_ENST00000314367.10_Missense_Mutation_p.L321M	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	357	CobW C-terminal.						ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGAGGACCAATCGATTTGTT	0.398000													45	55					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152420146	152420146	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:152420146G>T	ENST00000397345.3	-	119	18869	c.18667C>A	c.(18667-18669)Ctg>Atg	p.L6223M	NEB_ENST00000172853.10_Missense_Mutation_p.L4522M|NEB_ENST00000604864.1_Missense_Mutation_p.L6223M|NEB_ENST00000409198.1_Missense_Mutation_p.L4522M|NEB_ENST00000603639.1_Missense_Mutation_p.L6223M|NEB_ENST00000427231.2_Missense_Mutation_p.L6223M	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6205					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)		TGGAAATCCAGACAGTGAACC	0.448000													47	176					1.51926e-22	1.69455e-22	1	1	0
PNMA2	10687	broad.mit.edu	37	8	26365424	26365424	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr8:26365424C>T	ENST00000522362.2	-	3	1742	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	283					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		agggatggcgcgtttctccac	0.597000													11	28					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45548231	45548231	+	Silent	SNP	C	C	T	rs146819096	byFrequency	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr21:45548231C>T	ENST00000291576.7	+	19	2590	c.2463C>T	c.(2461-2463)ctC>ctT	p.L821L	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	821						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TCTACCTCCTCTGGACTCACA	0.532000													10	239					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393315	164393315	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:164393315G>A	ENST00000280605.3	-	1	1732	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	524						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAAAGATGGTCAGCAGCTT	0.502000													42	189					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992290	85992290	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr10:85992290C>T	ENST00000372105.3	-	4	1286	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	422						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGTCCTGCCCGCCCATCAGA	0.617000													29	117					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40715921	40715921	+	RNA	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr9:40715921G>A	ENST00000604146.1	+	0	260					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAGAAGACGTGGAAAGAGCTC	0.567000													12	15					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917967	97917967	+	RNA	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr10:97917967G>A	ENST00000534948.1	+	0	2745							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTTACCTGTTGAATCCTCCAA	0.358000													16	38					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20449544	20449544	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr7:20449544G>T	ENST00000222573.4	+	14	2918	c.2234G>T	c.(2233-2235)cGa>cTa	p.R745L	ITGB8_ENST00000537992.1_Missense_Mutation_p.R610L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTCACCTACCGACGTGAGAAG	0.323000													17	56					5.01169e-05	5.22177e-05	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32069697	32069697	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr5:32069697A>G	ENST00000438447.1	+	15	2862	c.2474A>G	c.(2473-2475)gAa>gGa	p.E825G	PDZD2_ENST00000282493.3_Missense_Mutation_p.E825G			O15018	PDZD2_HUMAN	PDZ domain containing 2	825					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAATGGATGAAGTCATAGCA	0.403000													5	38					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12318022	12318022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:12318022G>A	ENST00000261349.4	-	8	1829	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	585	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATCACTCGATGAACATTT	0.423000													23	62					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3716787	3716787	+	Silent	SNP	T	T	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:3716787T>A	ENST00000324932.7	-	26	4479	c.4059A>T	c.(4057-4059)tcA>tcT	p.S1353S	NUP98_ENST00000355260.3_Silent_p.S1353S|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000359171.4_Silent_p.S1353S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1370					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCTCCCGGACTGACTGGCTAC	0.478000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								83	54					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109753534	109753534	+	Splice_Site	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:109753534A>G	ENST00000399132.1	-	32	2241		c.e32+1		COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1							collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCAACAACTTACTCTTTCTCC	0.383000													14	57					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41099847	41099847	+	Silent	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr15:41099847A>G	ENST00000355341.4	+	1	561	c.60A>G	c.(58-60)agA>agG	p.R20R	ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000299173.10_Silent_p.R20R	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	20							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGCAGGAGAGCGTCCGGAT	0.692000													11	36					0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132982045	132982045	+	Silent	SNP	G	G	A	rs11552457	byFrequency	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr9:132982045G>A	ENST00000372398.3	+	4	356	c.270G>A	c.(268-270)tcG>tcA	p.S90S	NCS1_ENST00000458469.1_Silent_p.S72S	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	90	EF-hand 2.			S -> P (in Ref. 4; AAF01804).	negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	p.S90S(1)		large_intestine(1)|lung(4)|stomach(1)	6						AGGCGCTGTCGGTGACCTCAC	0.642000													16	51					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559642	228559642	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:228559642C>T	ENST00000570156.2	+	105	24108	c.24034C>T	c.(24034-24036)Cca>Tca	p.P8012S	OBSCN_ENST00000366707.4_Missense_Mutation_p.P4689S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P7055S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7055					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)				AGCAGTTGCCCCATGCCCTCC	0.687000													17	67					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21176199	21176199	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:21176199G>A	ENST00000381541.3	+	6	770	c.705G>A	c.(703-705)gtG>gtA	p.V235V	SLCO1B7_ENST00000554957.1_Silent_p.V235V|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.V188V																							AAATGTATGTGGATATCGGAT	0.368000													5	12					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099664	220099664	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:220099664A>G	ENST00000323348.5	+	10	1495	c.1321A>G	c.(1321-1323)Agg>Ggg	p.R441G	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R231G|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R441G	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	441						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGAGAAAAAGGAATAAGAA	0.517000													3	56					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792275	13792275	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr5:13792275A>G	ENST00000265104.4	-	50	8380	c.8276T>C	c.(8275-8277)gTg>gCg	p.V2759A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2759	AAA 3 (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)					AGAATCTCTCACTTCTTCTGA	0.423000									Kartagener syndrome				22	42					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57085377	57085377	+	Silent	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr14:57085377A>G	ENST00000261556.6	+	10	1244	c.1122A>G	c.(1120-1122)gcA>gcG	p.A374A	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Silent_p.A374A	NM_017799.3	NP_060269.3			transmembrane protein 260																		GTTTGGCTGCAGTTGTGTCTG	0.468000													21	47					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128523	68128523	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr17:68128523C>T	ENST00000585558.1	+	4	788	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	KCNJ16_ENST00000283936.1_Missense_Mutation_p.H99Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.H138Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.H99Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.H99Y|KCNJ16_ENST00000589377.1_Missense_Mutation_p.H99Y			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	99					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCCTTTCATCATGGCGATCT	0.423000													11	47					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55497551	55497551	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:55497551G>A	ENST00000543010.1	+	8	2377	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	NLRP2_ENST00000263437.6_Missense_Mutation_p.R742Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R723Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R723Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R745Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R722Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.R721Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R721Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	745					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GATGCTCATCGGAACCTCTGC	0.448000													13	42					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51064427	51064427	+	Silent	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr22:51064427G>T	ENST00000547307.1	-	6	1443	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	ARSA_ENST00000395619.3_Silent_p.A348A|ARSA_ENST00000453344.2_Silent_p.A262A|ARSA_ENST00000356098.5_Silent_p.A348A|ARSA_ENST00000216124.5_Silent_p.A348A|ARSA_ENST00000547805.1_Silent_p.A346A|ARSA_ENST00000395621.3_Silent_p.A348A			P15289	ARSA_HUMAN	arylsulfatase A	346						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	TGGGCAGTGGGGCCCCAGCCA	0.677000													3	13					0.004672	0.00475396	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155199507	155199507	+	Silent	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:155199507A>G	ENST00000460012.1	-	23	4575	c.4218T>C	c.(4216-4218)caT>caC	p.H1406H	PLCH1_ENST00000334686.6_Silent_p.H1406H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.H1444H|PLCH1_ENST00000414191.1_Silent_p.H1406H|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1444					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAAATGATTATGCACAAAGC	0.438000													29	92					0	0	1	0	0
SPCS3	60559	broad.mit.edu	37	4	177248364	177248364	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:177248364C>T	ENST00000503362.1	+	4	459	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	116					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		AGGTGATAATCCGAAGCTGCT	0.313000													3	10					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318000													4	35					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10163264	10163264	+	RNA	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:10163264G>A	ENST00000495140.1	+	0	1523																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ACCCGACACGGAGGCGGAAGT	0.562000													16	78					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635503	79635503	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr9:79635503C>A	ENST00000376708.1	+	1	933	c.933C>A	c.(931-933)agC>agA	p.S311R		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	311					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						ACGTCGTCAGCTCCGTGTGGC	0.716000													3	28					1	1	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2185891	2185891	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:2185891A>G	ENST00000398665.3	+	3	199	c.163A>G	c.(163-165)Atg>Gtg	p.M55V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	55						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCGCTATGGAGAATTA	0.473000													114	378					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219619033	219619033	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:219619033G>T	ENST00000392102.1	+	20	3861	c.3521G>T	c.(3520-3522)tGc>tTc	p.C1174F	TTLL4_ENST00000457313.1_3'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.C1174F|TTLL4_ENST00000442769.1_Missense_Mutation_p.C1110F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1174					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGATCAAGTGCTCTGGGCAG	0.532000													110	69					3.10586e-51	3.48658e-51	1	1	0
AKAP7	9465	broad.mit.edu	37	6	131486247	131486247	+	Silent	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:131486247G>A	ENST00000431975.2	+	4	416	c.318G>A	c.(316-318)caG>caA	p.Q106Q	AKAP7_ENST00000368123.4_Silent_p.Q84Q|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Silent_p.Q105Q	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323000													7	16					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538208	113538208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr9:113538208G>A	ENST00000416899.2	+	9	1451	c.1325G>A	c.(1324-1326)tGg>tAg	p.W442*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.W442*|MUSK_ENST00000374438.1_Silent_p.L33L|MUSK_ENST00000374448.4_Nonsense_Mutation_p.W442*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	442	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGCATGCATTGGGACCCCACG	0.488000													49	152					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	983198	983198	+	Missense_Mutation	SNP	G	G	A	rs35467258		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:983198G>A	ENST00000379370.2	+	22	3724	c.3674G>A	c.(3673-3675)cGg>cAg	p.R1225Q		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1225	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCCTGCTCCGGCAGATCCAG	0.692000													12	20					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120270585	120270585	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:120270585G>A	ENST00000392521.2	-	7	798	c.743C>T	c.(742-744)tCa>tTa	p.S248L	CIT_ENST00000261833.7_Missense_Mutation_p.S248L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	248	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CATCTTGTTTGAATTCATTTT	0.383000													23	95					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395838	156395838	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:156395838G>A	ENST00000461166.1	+	2	940	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	TIPARP_ENST00000542783.1_Missense_Mutation_p.G118R|TIPARP_ENST00000295924.7_Missense_Mutation_p.G118R|TIPARP_ENST00000486483.1_Missense_Mutation_p.G118R	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	118							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACAAATGTTGGGGACCAGAT	0.458000													55	99					0	0	1	0	0
OLIG2	10215	broad.mit.edu	37	21	34399267	34399267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr21:34399267G>A	ENST00000333337.3	+	1	1025	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.A33T			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	33						cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CAGCGGCAGCGCCTTCACTGG	0.721000			T	TRA@	T-ALL								21	31					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264609	25264609	+	Splice_Site	SNP	G	G	A	rs12866274		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr13:25264609G>A	ENST00000218548.6	+	6	1013	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	ATP12A_ENST00000381946.3_Splice_Site_p.R227Q	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	227				Missing (in Ref. 7; CAA49477).	ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGGGTGTCGGGTAAGCGGC	0.572000													52	65					0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917776	56917776	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr6:56917776G>T	ENST00000370733.4	+	4	686	c.479G>T	c.(478-480)gGa>gTa	p.G160V	KIAA1586_ENST00000545356.1_Missense_Mutation_p.G133V|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	160							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGTAAATTAGGATGTAAGGAT	0.363000													32	36					1.62565e-12	1.77901e-12	1	1	0
C1orf65	164127	broad.mit.edu	37	1	223568378	223568378	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:223568378G>A	ENST00000366875.3	+	1	1664	c.1561G>A	c.(1561-1563)Gtg>Atg	p.V521M		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	521										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CAGGAGTCACGTGCACAAGAC	0.577000													33	76					0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133682915	133682915	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:133682915A>G	ENST00000355557.2	+	5	2335	c.1052A>G	c.(1051-1053)cAt>cGt	p.H351R	ZNF140_ENST00000544426.1_Missense_Mutation_p.H248R|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	351						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGAGAATTCATGCTGGAGAA	0.403000													29	87					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375110	8375110	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr12:8375110C>T	ENST00000538603.1	-	7	1261	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G235S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	235							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CGACAGCCACCCGCAGGGCTG	0.657000													34	151					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202801	28202801	+	Missense_Mutation	SNP	G	G	A	rs140556122		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr15:28202801G>A	ENST00000354638.3	-	16	1872	c.1717C>T	c.(1717-1719)Cgc>Tgc	p.R573C	OCA2_ENST00000353809.5_Missense_Mutation_p.R549C|OCA2_ENST00000382996.2_Missense_Mutation_p.R573C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	573					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCAGCAGGCGGCGCACAGCT	0.657000									Oculocutaneous Albinism				15	38					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11536975	11536975	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:11536975T>C	ENST00000356392.4	-	7	1039	c.952A>G	c.(952-954)Atg>Gtg	p.M318V	CCDC151_ENST00000591179.1_Missense_Mutation_p.M258V|CCDC151_ENST00000545100.1_Missense_Mutation_p.M264V|CCDC151_ENST00000586836.1_Missense_Mutation_p.M127V	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	318										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTGCGCTCCATGCGCTCGTTC	0.617000													15	16					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814395	156814396	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr1:156814395_156814396delAC	ENST00000368195.3	-	14	2991_2992	c.2595_2596delGT	c.(2593-2598)gtgtccfs	p.S866fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	866	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAAGACGGGACACACACAGCA	0.619													16	46	---	---	---	---					
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898813	48898825	+	Splice_Site	DEL	TGATAAGGTACTG	TGATAAGGTACTG	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:48898813_48898825delTGATAAGGTACTG	ENST00000394754.1	+	10	3549_3555	c.3435_3441delTGATAAGGTACTG	c.(3433-3441)tatgataag>ta	p.YDK1145fs	GTF2A1L_ENST00000430487.2_Splice_Site_p.YDK407fs|STON1-GTF2A1L_ENST00000309827.2_Splice_Site_p.YDK1145fs|STON1-GTF2A1L_ENST00000402114.2_Splice_Site_p.YDK1145fs|STON1-GTF2A1L_ENST00000394751.3_Splice_Site_p.YDK1098fs|STON1-GTF2A1L_ENST00000405008.1_Splice_Site_p.YDK1145fs|GTF2A1L_ENST00000403751.3_Splice_Site_p.YDK441fs	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1098					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTGTCAGTATGATAAGGTACTGTATTTACCTT	0.347													13	77	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179467293	179467294	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:179467293_179467294delGG	ENST00000589042.1	-	283	55059_55060	c.54835_54836delCC	c.(54835-54837)ccafs	p.P18279fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.P15711fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.P16638fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P9406fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.P9339fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P9214fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16638	Fibronectin type-III 32.						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)			TTTAACTTCTGGGCAAGAAGGT	0.406													2	4	---	---	---	---					
TTLL4	9654	broad.mit.edu	37	2	219603241	219603241	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr2:219603241delC	ENST00000392102.1	+	3	1182	c.842delC	c.(841-843)gccfs	p.A281fs	TTLL4_ENST00000457313.1_Frame_Shift_Del_p.A116fs|TTLL4_ENST00000258398.4_Frame_Shift_Del_p.A281fs|TTLL4_ENST00000442769.1_Frame_Shift_Del_p.A281fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	281					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCAGCTGATGCCAGTGCCCAT	0.557													94	81	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48602245	48602245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr3:48602245delG	ENST00000328333.8	-	117	8896	c.8789delC	c.(8788-8790)ccafs	p.P2931fs	COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P2899fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2931	BPTI/Kunitz inhibitor.|Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCGGGGTGGGCAGCGGCG	0.662													22	93	---	---	---	---					
CDS1	1040	broad.mit.edu	37	4	85556474	85556475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:85556474_85556475insT	ENST00000295887.5	+	8	1203_1204	c.780_781insT	c.(781-783)tttfs	p.F261fs		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	261					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.G260G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACCTTTTTGGATTTTTTTTTGG	0.307													7	124	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126372619	126372619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr4:126372619delT	ENST00000394329.3	+	9	10461	c.10448delT	c.(10447-10449)gttfs	p.V3483fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.V1781fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3483	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTTTGGCTGTTGATTCAGGG	0.453													31	179	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													8	155	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104866565	104866565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr11:104866565delT	ENST00000393141.2	-	9	1281	c.1250delA	c.(1249-1251)cagfs	p.Q417fs	CASP5_ENST00000531367.1_Frame_Shift_Del_p.Q262fs|CASP5_ENST00000418434.1_Frame_Shift_Del_p.Q262fs|CASP5_ENST00000260315.3_Frame_Shift_Del_p.Q404fs|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Frame_Shift_Del_p.Q346fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.Q417fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	404					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AAATGATTTCTGTACCTAAAA	0.408													19	19	---	---	---	---					
CDH16	1014	broad.mit.edu	37	16	66943235	66943235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:66943235delC	ENST00000299752.4	-	17	2520	c.2327delG	c.(2326-2328)cgcfs	p.R776fs	CDH16_ENST00000568632.1_Frame_Shift_Del_p.R679fs|CDH16_ENST00000565796.1_Frame_Shift_Del_p.R737fs|CDH16_ENST00000394055.3_Frame_Shift_Del_p.R754fs|CDH16_ENST00000570262.1_Frame_Shift_Del_p.R696fs	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	776	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCTTCATGCGGCCCACCTT	0.627													13	16	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													11	341	---	---	---	---					
ESRP2	80004	broad.mit.edu	37	16	68264751	68264752	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:68264751_68264752delAG	ENST00000473183.2	-	13	2428_2429	c.1890_1891delCT	c.(1888-1893)tactacfs	p.YY630fs	ESRP2_ENST00000565858.1_Frame_Shift_Del_p.YY640fs			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	640					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TACCTTGGGTAGTAGGCTGTGT	0.574													416	151	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													7	210	---	---	---	---					
ZNF844	284391	broad.mit.edu	37	19	12186674	12186675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr19:12186674_12186675insA	ENST00000439326.3	+	4	914_915	c.739_740insA	c.(739-741)cacfs	p.H247fs	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGAAAGAACTCACACTGGAGAG	0.386													5	11	---	---	---	---					
MYH7B	57644	broad.mit.edu	37	20	33575993	33576005	+	Frame_Shift_Del	DEL	GCGGGAGGGCATC	GCGGGAGGGCATC	-			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr20:33575993_33576005delGCGGGAGGGCATC	ENST00000262873.7	+	17	1733_1745	c.1641_1653delGCGGGAGGGCATC	c.(1639-1653)aagcgggagggcatcfs	p.KREGI547fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	505	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGAGTACAAGCGGGAGGGCATCGACTGGGTCT	0.545													17	72	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													2	4	---	---	---	---					
CABIN1	23523	broad.mit.edu	37	22	24491903	24491904	+	Frame_Shift_Ins	INS	-	-	GGCTCCAT			TCGA-FD-A5C0-01A-11D-A289-08	TCGA-FD-A5C0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fb04c1-6f04-4d07-b29e-37da75cd7dc9	5bd833d0-edb5-4268-bff2-85705ea3654f	g.chr22:24491903_24491904insGGCTCCAT	ENST00000398319.2	+	25	4181_4182	c.3796_3797insGGCTCCAT	c.(3796-3798)cggfs	p.-1268fs	CABIN1_ENST00000405822.2_Frame_Shift_Ins_p.-1218fs|CABIN1_ENST00000263119.5_Frame_Shift_Ins_p.-1268fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1						cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGTGTACTTTCGGCTCCATGCT	0.545													29	188	---	---	---	---					
