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
DYM	54808	broad.mit.edu	37	18	46906102	46906102	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr18:46906102G>T	ENST00000269445.6	-	4	677	c.220C>A	c.(220-222)Ctt>Att	p.L74I	DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	74						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGTGCACCAAGATTTCCTGTT	0.313000													10	78					1.08611e-07	1.13909e-07	1	1	0
HK1	3098	broad.mit.edu	37	10	71128327	71128327	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:71128327G>A	ENST00000448642.2	+	10	1025	c.636G>A	c.(634-636)gcG>gcA	p.A212A	HK1_ENST00000360289.2_Silent_p.A165A|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Silent_p.A177A|HK1_ENST00000404387.2_Silent_p.A181A|HK1_ENST00000298649.3_Silent_p.A176A			P19367	HXK1_HUMAN	hexokinase 1	177	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GATTTAAAGCGAGCGGAGTGG	0.567000													12	87					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58109919	58109919	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:58109919C>A	ENST00000315970.7	+	7	876	c.835C>A	c.(835-837)Cta>Ata	p.L279I	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Missense_Mutation_p.L279I|OS9_ENST00000389146.6_Missense_Mutation_p.L279I|OS9_ENST00000439210.2_Missense_Mutation_p.L220I|OS9_ENST00000257966.8_Missense_Mutation_p.L280I|OS9_ENST00000389142.5_Missense_Mutation_p.L279I|OS9_ENST00000551035.1_Missense_Mutation_p.L247I|OS9_ENST00000435406.2_Missense_Mutation_p.L227I	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	279					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCTGCAAGATCTAGGCCCCCA	0.483000													5	50					0.0381472	0.0383703	1	1	0
SLC18A3	6572	broad.mit.edu	37	10	50820030	50820030	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:50820030C>G	ENST00000374115.3	+	1	1684	c.1244C>G	c.(1243-1245)tCa>tGa	p.S415*	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	415					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CGCCATGTCTCAGTCTATGGC	0.612000													14	23					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	77					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69103970	69103970	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:69103970G>C	ENST00000288368.4	+	36	4637	c.4360G>C	c.(4360-4362)Gac>Cac	p.D1454H		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1454					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCTACTTGGACAAGTCAAA	0.308000													18	47					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981500	201981500	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:201981500G>T	ENST00000359651.3	+	3	3606	c.414G>T	c.(412-414)tgG>tgT	p.W138C	ELF3_ENST00000367284.5_Missense_Mutation_p.W138C|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.W138C			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	138					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGCTCAGTTGGATCATTGAGC	0.572000													21	69					7.41877e-09	7.80446e-09	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85594022	85594022	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:85594022C>T	ENST00000322366.6	-	67	10936	c.10529G>A	c.(10528-10530)tGa>tAa	p.*3510*	WDFY3_ENST00000295888.4_Silent_p.*3527*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	0						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)		GTTGAATCTTCAACAATTTCG	0.458000													34	109					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325561	150325561	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:150325561C>T	ENST00000328902.5	-	3	341	c.125G>A	c.(124-126)aGg>aAg	p.R42K	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	42							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAATGAGCCTCAGTCTCCT	0.522000													59	297					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56423190	56423190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:56423190G>A	ENST00000290649.5	-	9	1393	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	395					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.Q395*(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTCTCCTTGATGTTCTTCC	0.453000													21	79					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656739	25656739	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr20:25656739C>G	ENST00000376436.1	-	4	1724	c.1185G>C	c.(1183-1185)caG>caC	p.Q395H	ZNF337_ENST00000252979.5_Missense_Mutation_p.Q395H|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.Q363H|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGTGTTCTCTGGTGTCTGA	0.502000													28	87					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21736523	21736523	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr18:21736523C>G	ENST00000399481.2	+	2	916	c.764C>G	c.(763-765)tCt>tGt	p.S255C	CABYR_ENST00000581397.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000399496.3_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	353					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AAGACCACCTCTGGCATGTCT	0.393000													11	131					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43890454	43890454	+	Splice_Site	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:43890454G>C	ENST00000562955.1	+	17	2471		c.e17-1		SZT2_ENST00000372442.1_Splice_Site	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGGGCTTCAGAGTCCGACTT	0.542000													12	36					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014634	53014634	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:53014634C>T	ENST00000421239.2	+	6	1244	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TACATGCCATCATAGGTGTCA	0.428000													32	84					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677907	3677907	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:3677907C>G	ENST00000294600.2	+	5	858	c.774C>G	c.(772-774)ctC>ctG	p.L258L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	258										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)		TCCTGCTGCTCCAGGAGGAGA	0.592000													13	56					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556118	176556118	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:176556118C>T	ENST00000280187.7	-	8	820	c.775G>A	c.(775-777)Gag>Aag	p.E259K	GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Missense_Mutation_p.E259K|GPM6A_ENST00000515090.1_Missense_Mutation_p.E252K|GPM6A_ENST00000506894.1_Missense_Mutation_p.E248K	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	259						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGCTCTTGCTCTTCCTTCGAC	0.453000													16	60					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93210076	93210076	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:93210076C>T	ENST00000322349.8	-	15	2093	c.1829G>A	c.(1828-1830)aGa>aAa	p.R610K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	610	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTGTGCAGCTCTAAGATGTGC	0.418000													29	93					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27462282	27462282	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:27462282G>A	ENST00000264705.4	+	33	5499	c.5337G>A	c.(5335-5337)gtG>gtA	p.V1779V	CAD_ENST00000403525.1_Silent_p.V1716V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1779	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGCAGAAAGTGAAGGGCACCG	0.587000													13	64					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49933921	49933921	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr13:49933921C>G	ENST00000355854.4	-	4	821	c.324G>C	c.(322-324)caG>caC	p.Q108H	CAB39L_ENST00000409308.1_Missense_Mutation_p.Q108H|CAB39L_ENST00000347776.5_Missense_Mutation_p.Q108H|CAB39L_ENST00000410043.1_Missense_Mutation_p.Q108H	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	108					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GAGTGCCTATCTGTCTTCTCA	0.383000													10	67					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40961673	40961673	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:40961673C>T	ENST00000372706.1	+	6	2529	c.1523C>T	c.(1522-1524)tCt>tTt	p.S508F	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.S508F					ZFP69 zinc finger protein																		AGCTATAACTCTTCACTTAGT	0.378000													10	69					0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61784700	61784700	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:61784700C>G	ENST00000245865.5	-	8	695	c.486G>C	c.(484-486)atG>atC	p.M162I	STRADA_ENST00000447001.3_Missense_Mutation_p.M176I|STRADA_ENST00000582137.1_Missense_Mutation_p.M191I|STRADA_ENST00000579340.1_Intron|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.M183I|STRADA_ENST00000336174.6_Missense_Mutation_p.M220I|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.M162I			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	220	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CATGGCTTATCATGCTGAGGT	0.592000													36	73					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52053995	52053995	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:52053995G>A	ENST00000340057.1	+	3	418	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	125					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.E125*(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTGCGCAGGGAGCCTCCACA	0.597000													19	55					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178937111	178937111	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:178937111G>T	ENST00000286063.6	-	1	371	c.54C>A	c.(52-54)caC>caA	p.H18Q	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ACAACTCTGGGTGCCTGTCCA	0.532000									Primary Pigmented Nodular Adrenocortical Disease, Familial				21	50					1.2644e-06	1.31011e-06	1	1	0
MRAS	22808	broad.mit.edu	37	3	138121045	138121045	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:138121045G>A	ENST00000289104.4	+	6	1208	c.561G>A	c.(559-561)aaG>aaA	p.K187K	MRAS_ENST00000464896.1_Silent_p.K111K|MRAS_ENST00000474559.1_Silent_p.K187K|MRAS_ENST00000423968.2_Silent_p.K187K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	187	Poly-Lys.				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGAAGAAGAAGAAGAAAACCA	0.527000													12	72					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153930904	153930904	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:153930904C>G	ENST00000368633.1	-	1	197	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	CRTC2_ENST00000368630.3_Missense_Mutation_p.E24Q	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	24					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.E24K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAATCTTCTCACTAAATTTG	0.677000													15	31					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915214	48915214	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:48915214G>A	ENST00000294954.7	-	11	1743	c.1722C>T	c.(1720-1722)ctC>ctT	p.L574L	LHCGR_ENST00000405626.1_Silent_p.L547L|LHCGR_ENST00000401907.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.L512L|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	574					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CGGTGAAGATGAGGATTGCCA	0.363000													32	76					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69373323	69373323	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:69373323C>T	ENST00000306875.4	-	1	247	c.133G>A	c.(133-135)Gat>Aat	p.D45N	COG8_ENST00000562081.1_Missense_Mutation_p.D45N|RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	45					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CGGCCCACATCGGGCCGCTCG	0.751000													4	11					0	0	1	0	0
ZFYVE21	79038	broad.mit.edu	37	14	104194185	104194185	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:104194185G>C	ENST00000216602.6	+	3	404	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	ZFYVE21_ENST00000311141.2_Missense_Mutation_p.E98Q	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	98						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		GCAGTGCGCGGAGTGCGCCCT	0.662000													12	65					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153930899	153930899	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:153930899C>T	ENST00000368633.1	-	1	202	c.75G>A	c.(73-75)aaG>aaA	p.K25K	CRTC2_ENST00000368630.3_Silent_p.K25K	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	25					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGCGCAATCTTCTCACTAA	0.677000													13	30					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249314	133249314	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:133249314C>T	ENST00000320574.5	-	15	1628	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	POLE_ENST00000535270.1_Missense_Mutation_p.D502N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	529					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTCCGTCGTCCGTCAGCTTA	0.592000								DNA polymerases (catalytic subunits)					30	82					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120213613	120213613	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:120213613C>G	ENST00000392521.2	-	16	1973	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E640Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	640					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)		TCTTGGAGCTCCTGAATTTTG	0.428000													3	26					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24657774	24657774	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:24657774G>A	ENST00000354464.6	-	2	316	c.140C>T	c.(139-141)tCg>tTg	p.S47L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	47	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GTCGGCCGCCGAGGCTAGCAG	0.682000													7	32					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189608648	189608648	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:189608648C>G	ENST00000264731.3	+	13	1812	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Missense_Mutation_p.Q396E|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Missense_Mutation_p.Q490E|TP63_ENST00000440651.2_Missense_Mutation_p.Q571E|TP63_ENST00000456148.1_Missense_Mutation_p.Q477E|TP63_ENST00000354600.5_Missense_Mutation_p.Q481E|TP63_ENST00000392463.2_Intron|TP63_ENST00000392461.3_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	575	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACCATCTATCAGATTGAGCA	0.443000										HNSCC(45;0.13)			19	46					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664697	160664697	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:160664697G>A	ENST00000366953.3	-	7	1444	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	396					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCGATGGTGAGGATGATCATG	0.527000													17	112					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8415562	8415562	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:8415562C>G	ENST00000337907.3	-	23	5218	c.4584G>C	c.(4582-4584)caG>caC	p.Q1528H	RERE_ENST00000400908.2_Missense_Mutation_p.Q1528H|RERE_ENST00000400907.2_Missense_Mutation_p.Q546H|RERE_ENST00000377464.1_Missense_Mutation_p.Q1260H|RERE_ENST00000476556.1_Missense_Mutation_p.Q974H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1528					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGCCAGTCTCTGCAGCTCGG	0.647000													3	41					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413733	65413733	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:65413733C>G	ENST00000394224.3	+	7	1601	c.1305C>G	c.(1303-1305)atC>atG	p.I435M	SIPA1_ENST00000527525.1_Missense_Mutation_p.I435M|SIPA1_ENST00000534313.1_Missense_Mutation_p.I435M|SIPA1_ENST00000394227.3_Missense_Mutation_p.I435M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	435	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTGTGACCATCGTGTTCCAGG	0.612000													30	108					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155249315	155249315	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:155249315C>A	ENST00000357232.4	-	12	2582	c.2583G>T	c.(2581-2583)ttG>ttT	p.L861F	DCHS2_ENST00000339452.1_Missense_Mutation_p.L1316F	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 7.				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)		CAGTTGTAACCAACATATTTA	0.348000													15	89					1.99824e-07	2.08301e-07	1	1	0
LHFPL3	375612	broad.mit.edu	37	7	104377170	104377170	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:104377170C>G	ENST00000535008.1	+	4	618	c.494C>G	c.(493-495)tCa>tGa	p.S165*	LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.S165*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.S151*|LHFPL3_ENST00000401970.2_Nonsense_Mutation_p.S151*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	151						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						GGCTGGGACTCAGATGAAGTA	0.428000													5	24					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827713	182827713	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:182827713C>G	ENST00000367549.3	+	9	948	c.838C>G	c.(838-840)Caa>Gaa	p.Q280E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	280	Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAACCTCTCTCAAGATTTAGA	0.383000													13	60					0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182353724	182353724	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:182353724G>A	ENST00000311223.5	-	8	1834	c.938C>T	c.(937-939)tCt>tTt	p.S313F	GLUL_ENST00000417584.2_Missense_Mutation_p.S313F|GLUL_ENST00000339526.4_Missense_Mutation_p.S313F|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000331872.6_Missense_Mutation_p.S313F	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	313					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TACACCAGCAGAAAAGTCGTT	0.552000													18	84					0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45470421	45470421	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr15:45470421C>T	ENST00000290894.8	-	3	881	c.387G>A	c.(385-387)gaG>gaA	p.E129E	SHF_ENST00000318390.6_Silent_p.E186E|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000560734.1_Silent_p.E194E|SHF_ENST00000560471.1_Silent_p.E194E|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Silent_p.E194E	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	129										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CAGGGACCTTCTCTGGGGCTC	0.577000													25	40					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48567685	48567685	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:48567685G>A	ENST00000537810.1	-	29	3797	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.P1065S|FRYL_ENST00000503238.1_Missense_Mutation_p.P1065S|FRYL_ENST00000358350.4_Missense_Mutation_p.P1065S			O94915	FRYL_HUMAN	FRY-like	1065					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCTGTTGAGGAAAAATACTT	0.353000													7	27					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2652900	2652900	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr9:2652900C>A	ENST00000382100.3	+	18	2893	c.2537C>A	c.(2536-2538)tCc>tAc	p.S846Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.S818Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GAGGACCTCTCCATAGACATT	0.443000													31	69					9.04072e-19	9.68849e-19	1	1	0
HSPB2	3316	broad.mit.edu	37	11	111784386	111784386	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:111784386C>T	ENST00000304298.3	+	2	904	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.R106C|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_5'UTR	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	106					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCACCCCCAGCGCCTGGACCG	0.617000													36	70					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	163451	163451	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr18:163451A>T	ENST00000261601.7	+	2	251	c.160A>T	c.(160-162)Aag>Tag	p.K54*	USP14_ENST00000383589.2_Nonsense_Mutation_p.K54*|USP14_ENST00000400266.3_Nonsense_Mutation_p.K54*|USP14_ENST00000582707.1_Nonsense_Mutation_p.K54*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)		Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGGAACGCTAAAGGTAAAATG	0.353000													9	64					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132394678	132394678	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:132394678G>A	ENST00000356232.4	+	11	2114	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	UBA5_ENST00000493720.2_Missense_Mutation_p.E348K|UBA5_ENST00000264991.4_Missense_Mutation_p.E292K|UBA5_ENST00000494238.2_Missense_Mutation_p.E292K|UBA5_ENST00000473651.1_Intron	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	348					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGGTATCTGAGGTTTCAGA	0.313000													10	39					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37337686	37337686	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:37337686C>T	ENST00000361924.2	+	7	1164	c.790C>T	c.(790-792)Cca>Tca	p.P264S	GOLGA4_ENST00000356847.4_Missense_Mutation_p.P286S|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	264	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAGAGAATCCAGAAAGTGA	0.428000													7	56					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	24					0.000602214	0.000612905	1	1	0
ZNF382	84911	broad.mit.edu	37	19	37117532	37117532	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:37117532G>C	ENST00000435416.1	+	3	2225	c.730G>C	c.(730-732)Gat>Cat	p.D244H	ZNF382_ENST00000292928.2_Missense_Mutation_p.D245H|ZNF382_ENST00000423582.1_Missense_Mutation_p.D196H|ZNF382_ENST00000439428.1_Missense_Mutation_p.D244H			Q96SR6	ZN382_HUMAN	zinc finger protein 382	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATACAATAAAGATGGAATTGC	0.373000													25	61					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12740069	12740069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:12740069C>T	ENST00000343325.4	+	4	1888	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R544*|ZNF791_ENST00000540038.1_Nonsense_Mutation_p.R467*|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AATGCACAATCGATAGAAACT	0.338000													8	27					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110147	98110147	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:98110147T>C	ENST00000383695.1	+	1	638	c.638T>C	c.(637-639)tTa>tCa	p.L213S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTATAGTCTTAGTTTCTTAT	0.323000													12	59					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113920	63113920	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:63113920C>A	ENST00000251157.5	-	6	622	c.589G>T	c.(589-591)Gac>Tac	p.D197Y	DOCK7_ENST00000404627.2_Missense_Mutation_p.D197Y|DOCK7_ENST00000340370.5_Missense_Mutation_p.D197Y	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	197					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTTCAAGTCAAAGATACTA	0.363000													11	72					1.58986e-06	1.64238e-06	1	1	0
MCMBP	79892	broad.mit.edu	37	10	121595128	121595128	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:121595128G>A	ENST00000360003.3	-	14	1806	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	MCMBP_ENST00000369077.3_Missense_Mutation_p.S544F|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	546					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTTCAGCACGGAAGGCAGCAC	0.418000													23	57					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806456	22806456	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr18:22806456C>T	ENST00000361524.3	-	4	1574	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	ZNF521_ENST00000584787.1_Missense_Mutation_p.V256I|ZNF521_ENST00000538137.2_Missense_Mutation_p.V476I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	476					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACTGGTAGACAATGGCAGGC	0.468000			T	PAX5	ALL								14	91					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110374845	110374845	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:110374845C>T	ENST00000378402.5	+	1	140	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	12					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGGGCCTCTGTGGGCTGC	0.637000										HNSCC(38;0.096)			3	18					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45701743	45701743	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:45701743T>C	ENST00000297323.7	+	8	1557	c.1535T>C	c.(1534-1536)aTg>aCg	p.M512T	ADCY1_ENST00000432715.1_Missense_Mutation_p.M287T	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	512	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGCAGCTCATGCACTGCCGG	0.517000													9	31					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17662719	17662719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:17662719C>T	ENST00000375448.4	+	4	432	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	136					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGTGAAAGATCAGGTACCACT	0.542000											OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	36					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101287095	101287095	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr13:101287095G>A	ENST00000342624.5	-	12	1728	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	TMTC4_ENST00000328767.5_Silent_p.F360F|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Silent_p.F471F	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	471						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGCACTTCTGAAAAGCTGTT	0.493000													36	199					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36249344	36249344	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr9:36249344C>G	ENST00000396594.3	-	2	213	c.102G>C	c.(100-102)aaG>aaC	p.K34N	GNE_ENST00000447283.2_Missense_Mutation_p.K3N|GNE_ENST00000377902.5_Missense_Mutation_p.K3N|GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.K3N	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	3					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TATTTCCATTCTTCTCCATGA	0.363000													18	50					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184034	72184034	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:72184034T>C	ENST00000340726.3	-	10	1564	c.925A>G	c.(925-927)Aga>Gga	p.R309G	EYA1_ENST00000388740.3_Missense_Mutation_p.R276G|EYA1_ENST00000388742.4_Missense_Mutation_p.R309G|EYA1_ENST00000388743.2_Missense_Mutation_p.R308G|EYA1_ENST00000419131.1_Missense_Mutation_p.R304G|EYA1_ENST00000303824.7_Missense_Mutation_p.R303G|EYA1_ENST00000388741.2_Missense_Mutation_p.R275G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	309					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTATTGTTTCTTCGGCCCCGT	0.463000													9	206					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195798950	195798950	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:195798950C>T	ENST00000360110.4	-	5	677	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.E170K|TFRC_ENST00000420415.1_Missense_Mutation_p.E89K	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	170					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AATTGATTTTCAACATACAAC	0.363000			T	BCL6	NHL								11	70					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537951	1537951	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:1537951C>G	ENST00000447419.2	-	2	187	c.162G>C	c.(160-162)gtG>gtC	p.V54V	PTX4_ENST00000440447.2_Silent_p.V54V|PTX4_ENST00000293922.1_Silent_p.V49V			Q96A99	PTX4_HUMAN	pentraxin 4, long	54						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GTGTCCAGGTCACCTCCTGGA	0.637000													32	121					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818623	70818623	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:70818623G>C	ENST00000358731.4	+	24	5497	c.5234G>C	c.(5233-5235)aGa>aCa	p.R1745T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1745					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTTCAGCAAGAAAAGATTGT	0.373000													19	57					0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32097154	32097154	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:32097154G>A	ENST00000375156.3	-	2	674	c.404C>T	c.(403-405)tCa>tTa	p.S135L		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	135					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TGGCGGCCCTGATCCGAAAGG	0.562000													39	375					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289259	62289259	+	Silent	SNP	C	C	T	rs148486975		TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:62289259C>T	ENST00000378024.4	-	5	12904	c.12630G>A	c.(12628-12630)gtG>gtA	p.V4210V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4210					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCAGGTTCACATCCACAT	0.512000													58	399					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176316664	176316664	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:176316664C>G	ENST00000292432.5	-	7	803	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	238	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCAACCTCACACGGCCTG	0.582000													27	31					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46444134	46444134	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:46444134C>T	ENST00000263257.5	-	4	660	c.466G>A	c.(466-468)Gtg>Atg	p.V156M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	156	KH 2.					nucleus	RNA binding	p.V156M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGTTCCATCACGGCTTTCACC	0.642000													17	41					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996091	140996091	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:140996091A>C	ENST00000285879.4	+	4	3187	c.2901A>C	c.(2899-2901)gaA>gaC	p.E967D	MAGEC1_ENST00000406005.2_Missense_Mutation_p.E34D	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	967	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAGAGAAGTGGACCCTG	0.498000										HNSCC(15;0.026)			9	181					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170079137	170079137	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:170079137G>C	ENST00000458537.3	+	1	1727	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	SKIL_ENST00000259119.4_Missense_Mutation_p.E340Q|SKIL_ENST00000413427.2_Missense_Mutation_p.E340Q|SKIL_ENST00000426052.2_Missense_Mutation_p.E320Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	340					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGAACACCTGAAGAAAAGAA	0.353000													22	95					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123949459	123949459	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:123949459G>C	ENST00000274008.4	+	11	2057	c.1988G>C	c.(1987-1989)gGa>gCa	p.G663A	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCACCTAAAGGAGTTCTTCTC	0.448000													32	104					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575564	19575564	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:19575564G>C	ENST00000328405.2	+	16	3563	c.3297G>C	c.(3295-3297)gtG>gtC	p.V1099V		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1099						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCAGAAGTGAAAGATAACA	0.413000													9	28					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	10					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196210645	196210645	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:196210645G>C	ENST00000318037.3	-	4	1270	c.676C>G	c.(676-678)Cag>Gag	p.Q226E		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	226					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ACTTACTTCTGAATATCTCCA	0.368000													27	125					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136240139	136240139	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:136240139A>G	ENST00000383202.2	-	7	848	c.592T>C	c.(592-594)Tat>Cat	p.Y198H	STAG1_ENST00000236698.5_Missense_Mutation_p.Y198H|STAG1_ENST00000480733.1_Missense_Mutation_p.Y198H|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	198					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCCATCATATACTCATCATAA	0.398000													17	106					0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7140971	7140971	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:7140971G>A	ENST00000320316.3	-	2	269	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	PHF23_ENST00000454255.2_Missense_Mutation_p.P11S|PHF23_ENST00000571362.1_Missense_Mutation_p.P15S|PHF23_ENST00000576955.1_Intron|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	15							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TTAAGGGTCGGAGGTGGATCT	0.522000													43	73					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216040414	216040414	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:216040414C>T	ENST00000366943.2	-	44	9166	c.8780G>A	c.(8779-8781)aGa>aAa	p.R2927K	USH2A_ENST00000307340.3_Missense_Mutation_p.R2927K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2927	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGCTCCTCTCTCTGGAAG	0.468000										HNSCC(13;0.011)			23	33					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428562	428562	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:428562G>A	ENST00000332826.6	-	13	1182	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	366						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGAAGGGCACGGCCGAGCTGC	0.662000													26	58					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92120715	92120715	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:92120715G>A	ENST00000248633.4	-	21	3404	c.3309C>T	c.(3307-3309)ggC>ggT	p.G1103G	PEX1_ENST00000438045.1_Silent_p.G781G|PEX1_ENST00000428214.1_Silent_p.G1046G|AC007566.10_ENST00000441539.1_RNA|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1103					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACTGATCTAAGCCACATTCTC	0.428000													32	136					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43830847	43830847	+	Splice_Site	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:43830847G>C	ENST00000402924.1	+	5	297		c.e5-1		BLVRA_ENST00000265523.4_Splice_Site	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A						heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CTCTGAAATAGAAGGGAGCTC	0.522000													36	111					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18684180	18684180	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:18684180G>C	ENST00000442744.2	+	2	128	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	UBA52_ENST00000597451.1_Missense_Mutation_p.E24Q|UBA52_ENST00000599551.1_Missense_Mutation_p.E24Q|UBA52_ENST00000595683.1_Missense_Mutation_p.E24Q|UBA52_ENST00000430157.2_Missense_Mutation_p.E24Q|UBA52_ENST00000598780.1_Missense_Mutation_p.E24Q|UBA52_ENST00000596273.1_Missense_Mutation_p.E24Q|UBA52_ENST00000596304.1_Missense_Mutation_p.E24Q|UBA52_ENST00000595158.1_Missense_Mutation_p.E24Q|UBA52_ENST00000599595.1_Missense_Mutation_p.E24Q|CRLF1_ENST00000594325.1_Intron	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	24	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TGACACCATTGAGAATGTCAA	0.557000													11	37					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646607	4646607	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:4646607G>C	ENST00000433935.1	+	6	1211	c.1154G>C	c.(1153-1155)aGt>aCt	p.S385T	ZMYND15_ENST00000573751.2_Missense_Mutation_p.S385T|ZMYND15_ENST00000592813.1_Missense_Mutation_p.S385T|ZMYND15_ENST00000269289.6_Missense_Mutation_p.S385T	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	385							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GAGGTGACCAGTGAAACCTTC	0.537000													4	247					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237780775	237780775	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:237780775C>A	ENST00000366574.2	+	38	6222	c.5905C>A	c.(5905-5907)Cct>Act	p.P1969T	RYR2_ENST00000542537.1_Missense_Mutation_p.P1953T|RYR2_ENST00000360064.6_Missense_Mutation_p.P1967T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1969	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGATCACCACCTCAAGAACA	0.398000													11	136					0.00829132	0.00841361	1	1	0
PXDN	7837	broad.mit.edu	37	2	1670166	1670166	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:1670166G>A	ENST00000252804.4	-	10	1161	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	371	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAGATCCGCGGCGGGGGGTGG	0.607000													4	34					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819710	50819710	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:50819710C>T	ENST00000374115.3	+	1	1364	c.924C>T	c.(922-924)ctC>ctT	p.L308L	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	308					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGCCTTCCTCGAACCCACCA	0.642000													50	79					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548167	99548167	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:99548167C>T	ENST00000547776.2	-	15	2425	c.2426G>A	c.(2425-2427)aGa>aAa	p.R809K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R809K|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R35K|ANKS1B_ENST00000550693.2_Missense_Mutation_p.R35K|ANKS1B_ENST00000332712.7_Missense_Mutation_p.R35K|ANKS1B_ENST00000546568.1_Missense_Mutation_p.R35K|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R385K|ANKS1B_ENST00000549558.2_Missense_Mutation_p.R35K|ANKS1B_ENST00000547446.1_Missense_Mutation_p.R4K|ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R35K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	809						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.R809K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GACAGGGCATCTGGGTCCTGT	0.517000													19	45					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70279317	70279317	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:70279317G>A	ENST00000346329.3	+	15	1574	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	CTTN_ENST00000538675.1_Silent_p.Q143Q|CTTN_ENST00000301843.8_Silent_p.Q459Q|CTTN_ENST00000376561.3_Silent_p.Q422Q	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	459						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAGCAGCCAGCAGGGCCTGG	0.672000													6	172					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878190	150878190	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:150878190G>A	ENST00000422024.1	-	3	1200	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	ASB10_ENST00000420175.2_Silent_p.L314L|ASB10_ENST00000434669.1_Silent_p.L359L|ASB10_ENST00000275838.1_Silent_p.L314L|ASB10_ENST00000377867.3_Silent_p.L299L	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	314					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACAGGACAGGAGCAGCTCC	0.672000													15	27					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15984021	15984021	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:15984021C>T	ENST00000268712.3	-	24	3455	c.3198G>A	c.(3196-3198)ttG>ttA	p.L1066L	NCOR1_ENST00000395851.1_Silent_p.L1082L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1066	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TATGAGAAGTCAAATAAGTGC	0.388000													16	42					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23571498	23571498	+	Translation_Start_Site	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:23571498G>C	ENST00000392502.4	-	0	123				TRA2A_ENST00000538367.1_De_novo_Start_OutOfFrame|TRA2A_ENST00000297071.4_De_novo_Start_InFrame	NM_001282759.1	NP_001269688.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)						nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CTCGAGGGCCGATGGCCTAAT	0.567000													14	21					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26639144	26639144	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:26639144C>T	ENST00000381340.3	-	41	6120	c.5704G>A	c.(5704-5706)Gag>Aag	p.E1902K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1902					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATTTTTCCTCAGTGTTTCCC	0.433000													30	102					0	0	1	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679										ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602000													6	112					0.217242	0.217242	1	1	0
SVIL	6840	broad.mit.edu	37	10	29818752	29818752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:29818752C>A	ENST00000375398.2	-	14	2577	c.2128G>T	c.(2128-2130)Gaa>Taa	p.E710*	SVIL_ENST00000355867.4_Nonsense_Mutation_p.E710*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.E316*			O95425	SVIL_HUMAN	supervillin	710					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACATTTTGTTCATCAAAAGAT	0.493000													21	24					1.50039e-11	1.58811e-11	1	1	0
RYR1	6261	broad.mit.edu	37	19	38949958	38949958	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:38949958C>T	ENST00000355481.4	+	19	2471	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	RYR1_ENST00000360985.3_Silent_p.V780V|RYR1_ENST00000359596.3_Silent_p.V780V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	780	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCTGTTGTCAGCTTCTCGG	0.602000													7	57					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22174479	22174479	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:22174479G>A	ENST00000374695.3	-	60	7924	c.7845C>T	c.(7843-7845)gtC>gtT	p.V2615V	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2615	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTGGATGGTGACGATGAGCG	0.662000													13	73					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18160153	18160153	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:18160153G>C	ENST00000388870.2	+	3	268	c.27G>C	c.(25-27)aaG>aaC	p.K9N	KDM1B_ENST00000397244.1_Missense_Mutation_p.K9N|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.K9N			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	9					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGACAAAGAAAAAAGCAT	0.378000													4	33					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26384103	26384103	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:26384103C>G	ENST00000356709.4	+	2	165	c.54C>G	c.(52-54)ctC>ctG	p.L18L	BTN2A2_ENST00000469230.1_Silent_p.L18L|BTN2A2_ENST00000482536.1_Silent_p.L18L|BTN2A2_ENST00000416795.2_Silent_p.L18L|BTN2A2_ENST00000432533.2_Silent_p.L18L|BTN2A2_ENST00000352867.2_Silent_p.L18L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	18					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						tcctcctcctcctgctcctcc	0.587000													4	123					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57216852	57216852	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:57216852C>G	ENST00000343433.6	-	9	1332	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	418										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGAATTTTTTCAGGTGTCCCT	0.438000													9	26					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670764	95670764	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:95670764C>T	ENST00000298912.4	-	9	1035	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	308						integral to membrane	actin binding	p.E308K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AAAGTGGATTCGATAGGAACT	0.348000													12	74					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138122	2138122	+	Silent	SNP	G	G	A	rs147147042		TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:2138122G>A	ENST00000219476.3	+	40	5772	c.5142G>A	c.(5140-5142)caG>caA	p.Q1714Q	TSC2_ENST00000353929.4_Silent_p.Q1671Q|TSC2_ENST00000401874.2_Silent_p.Q1647Q|TSC2_ENST00000382538.6_Silent_p.Q1599Q|TSC2_ENST00000568454.1_Silent_p.Q1658Q|TSC2_ENST00000439673.2_Silent_p.Q1611Q|TSC2_ENST00000350773.4_Silent_p.Q1691Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1714	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGCCCGCCAGATGGCCCTGC	0.652000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				57	82					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118502693	118502693	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:118502693C>G	ENST00000361417.2	+	9	2575	c.2164C>G	c.(2164-2166)Cag>Gag	p.Q722E	PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q722E|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	722										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAGCGGGCTCAGGTGCTGGG	0.612000													25	65					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25264856	25264856	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr20:25264856C>G	ENST00000216962.4	+	14	1847	c.1737C>G	c.(1735-1737)ctC>ctG	p.L579L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	579					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCAGCTGCTCAACTGCCTGC	0.597000													16	100					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666407	20666407	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:20666407G>A	ENST00000357366.3	+	1	913	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		atctaagaatgaagctggaaa	0.453000													20	117					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129206253	129206253	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:129206253C>G	ENST00000308167.5	-	5	859	c.480G>C	c.(478-480)gaG>gaC	p.E160D	ELF4_ENST00000335997.7_Missense_Mutation_p.E160D	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	160	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E160E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGAGGCCTTCTCCTCCAGAG	0.567000			T	ERG	AML								33	107					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15619008	15619008	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:15619008G>C	ENST00000427411.1	-	2	243	c.27C>G	c.(25-27)ctC>ctG	p.L9L	ACE2_ENST00000252519.3_Silent_p.L9L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	9					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAACAAGGCTGAGAAGGAGCC	0.468000													22	61					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149718775	149718775	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:149718775C>T	ENST00000367456.1	+	5	2216	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	TAB2_ENST00000286332.5_Missense_Mutation_p.L547F|TAB2_ENST00000536230.1_Missense_Mutation_p.L515F|TAB2_ENST00000538427.1_Missense_Mutation_p.L547F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	547					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AATGGAACGACTTCAAAGAGA	0.373000													33	186					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242561	2242561	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:2242561G>A	ENST00000243706.4	-	2	342	c.113C>T	c.(112-114)tCg>tTg	p.S38L	HAUS3_ENST00000506763.1_Missense_Mutation_p.S38L|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.S38L|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	38					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTCAGAAACGATTCATCTTC	0.368000													19	82					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777656	123777656	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:123777656T>C	ENST00000321355.2	+	1	548	c.518T>C	c.(517-519)aTc>aCc	p.I173T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GGATCAAACATCATTAAACAT	0.403000													70	179					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307402	162307402	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:162307402C>A	ENST00000306100.5	-	16	2477	c.2041G>T	c.(2041-2043)Ggt>Tgt	p.G681C	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.G680C|FSTL5_ENST00000379164.4_Missense_Mutation_p.G680C|FSTL5_ENST00000427802.2_Missense_Mutation_p.G671C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	681						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGTTACACCGTCCACCATG	0.498000													6	66					3.59834e-05	3.67308e-05	1	1	0
DIP2B	57609	broad.mit.edu	37	12	51127925	51127925	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:51127925C>T	ENST00000301180.5	+	33	4023	c.3989C>T	c.(3988-3990)tCa>tTa	p.S1330L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1330						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAGGGAACCTCAGGGCCTGAT	0.353000													31	148					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46543206	46543206	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:46543206C>G	ENST00000262741.5	-	3	984	c.295G>C	c.(295-297)Gat>Cat	p.D99H	PIK3R3_ENST00000354242.4_Missense_Mutation_p.D99H|PIK3R3_ENST00000540385.1_Missense_Mutation_p.D145H|PIK3R3_ENST00000420542.1_Missense_Mutation_p.D99H|PIK3R3_ENST00000372006.1_Missense_Mutation_p.D99H|PIK3R3_ENST00000340332.6_Missense_Mutation_p.D63H|PIK3R3_ENST00000423209.1_Missense_Mutation_p.D99H	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	99	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AAAGTATAATCTCCCTGCATT	0.378000													35	79					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172573954	172573954	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:172573954G>C	ENST00000231668.9	+	2	274	c.170G>C	c.(169-171)aGa>aCa	p.R57T	BNIP1_ENST00000352523.6_Missense_Mutation_p.R57T|BNIP1_ENST00000393770.4_Missense_Mutation_p.R57T|BNIP1_ENST00000351486.5_Missense_Mutation_p.R57T	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	57					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGCGTCACAGAATACAGGTG	0.438000													20	32					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216425	56216425	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:56216425C>G	ENST00000357606.3	-	6	2015	c.1726G>C	c.(1726-1728)Gag>Cag	p.E576Q	DNAJC14_ENST00000317287.5_Missense_Mutation_p.E576Q|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E576Q|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.R205T			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	576					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						ATGCTTGACTCTGCCCAAAAG	0.488000													18	103					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92905654	92905654	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:92905654C>G	ENST00000251739.5	+	12	1107	c.979C>G	c.(979-981)Ctt>Gtt	p.L327V	CCDC132_ENST00000305866.5_Intron|CCDC132_ENST00000317751.6_Intron|CCDC132_ENST00000541136.1_Intron|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Intron	NM_024553.2	NP_078829.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										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)			TATATCTCTCCTTTAGATTTT	0.284000													6	25					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350312	21350312	+	Silent	SNP	C	C	T	rs149449207		TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr22:21350312C>T	ENST00000215739.8	+	18	2489	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	LZTR1_ENST00000389355.3_Silent_p.I691I|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	710	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACATCTCCATCGGGGAGATGG	0.597000													28	59					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53555495	53555495	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:53555495G>C	ENST00000371494.4	-	9	1465	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	446						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CGGCAATGATGAGGGTGATGT	0.632000													19	107					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845844	20845844	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:20845844G>A	ENST00000262715.5	-	40	5830	c.5790C>T	c.(5788-5790)gcC>gcT	p.A1930A	TEP1_ENST00000545983.1_Silent_p.A268A|TEP1_ENST00000556935.1_Silent_p.A1822A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1930					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACAGAGAGGGCAGGAGAGA	0.547000													20	122					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242648673	242648673	+	Missense_Mutation	SNP	C	C	G	rs148805882	byFrequency	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:242648673C>G	ENST00000313552.6	+	3	178	c.152C>G	c.(151-153)tCc>tGc	p.S51C	ING5_ENST00000406941.1_Missense_Mutation_p.S51C|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	51					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAGTACATCTCCACGGTGAAG	0.527000													71	92					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93210159	93210159	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:93210159C>T	ENST00000322349.8	-	15	2010	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	582	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTTCAGCTTCTCTGTTAGTT	0.383000													33	84					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70119768	70119768	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:70119768G>A	ENST00000245479.2	+	3	1142	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	257					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGAGAGGGGCGCCCCTTGCCA	0.642000													62	138					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51807222	51807222	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr18:51807222G>A	ENST00000579534.1	+	5	888	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	POLI_ENST00000217800.5_Missense_Mutation_p.E123K|POLI_ENST00000579434.1_Missense_Mutation_p.E146K|POLI_ENST00000406285.3_Intron	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	249	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CTTATTACCTGAAAGTTGTCA	0.333000								DNA polymerases (catalytic subunits)					11	40					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66112492	66112492	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:66112492T>C	ENST00000503581.1	-	7	1600	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	EYS_ENST00000370621.3_Missense_Mutation_p.M355V|EYS_ENST00000393380.2_Missense_Mutation_p.M355V|EYS_ENST00000370616.2_Missense_Mutation_p.M355V|EYS_ENST00000370618.3_Missense_Mutation_p.M355V|EYS_ENST00000342421.5_Missense_Mutation_p.M355V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	355	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGATGCACATAACATCCTAG	0.299000													13	30					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342656	118342656	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:118342656C>T	ENST00000534358.1	+	3	805	c.782C>T	c.(781-783)tCt>tTt	p.S261F	KMT2A_ENST00000354520.4_Missense_Mutation_p.S261F|KMT2A_ENST00000389506.5_Missense_Mutation_p.S261F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGGACACCTTCTGCTACGTTT	0.368000													41	101					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42891766	42891766	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr13:42891766C>T	ENST00000025301.2	+	12	5682	c.5507C>T	c.(5506-5508)tCt>tTt	p.S1836F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1836					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTCATTGCCTCTGAGGCTGAA	0.423000													11	45					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91083417	91083417	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr9:91083417G>A	ENST00000375859.3	+	5	764	c.486G>A	c.(484-486)atG>atA	p.M162I	SPIN1_ENST00000541629.1_Missense_Mutation_p.M162I|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	162					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CACCTGTCATGAACACATGGT	0.428000													52	72					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457526	100457526	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:100457526T>G	ENST00000354161.3	+	8	1122	c.997T>G	c.(997-999)Tat>Gat	p.Y333D	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Y333D|SLC12A9_ENST00000415287.1_Missense_Mutation_p.Y244D|SLC12A9_ENST00000275729.3_Missense_Mutation_p.Y244D|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Y333D	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	333						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGGAAGACTATGGGTTCTT	0.562000													48	107					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917471	39917471	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr22:39917471G>C	ENST00000337304.2	+	1	903	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ATF4_ENST00000404241.2_Silent_p.L7L|ATF4_ENST00000396680.1_Silent_p.L7L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	7					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TGAGCTTCCTGAGCAGCGAGG	0.527000													29	69					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538732	31538732	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr21:31538732G>A	ENST00000286808.3	-	1	239	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	68					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CCAACAAGGAGCTATAGAACT	0.547000													22	75					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17745227	17745227	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:17745227C>T	ENST00000380060.3	+	6	3276	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S	NHS_ENST00000398097.3_Missense_Mutation_p.P824S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	980						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCATCTCTTCCTTCTGTTGA	0.478000													18	120					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802531	185802531	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:185802531T>G	ENST00000302277.6	+	4	3002	c.2408T>G	c.(2407-2409)gTt>gGt	p.V803G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	803						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGTACTTCAGTTGCTCCCTGC	0.393000													4	76					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345047	67345047	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr18:67345047G>A	ENST00000382713.5	+	4	557	c.367G>A	c.(367-369)Gag>Aag	p.E123K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	123							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGCCTTGGGGAGCCCGACCT	0.532000													9	57					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9167361	9167361	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:9167361C>T	ENST00000328194.3	-	17	3179	c.2859G>A	c.(2857-2859)ctG>ctA	p.L953L	DENND5A_ENST00000527700.1_Splice_Site_p.L296L|DENND5A_ENST00000530044.1_Splice_Site_p.L953L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	953										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTACGGGATCACTGTTTAGG	0.502000													124	191					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517667	123517667	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:123517667C>G	ENST00000422452.2	-	30	7177	c.7114G>C	c.(7114-7116)Gat>Cat	p.D2372H	TENM1_ENST00000371130.3_Missense_Mutation_p.D2365H|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTAAGGAAATCATAGAGTCCT	0.408000													22	84					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39724593	39724593	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:39724593C>T	ENST00000395670.3	-	23	3693	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	KIF21A_ENST00000541463.2_Missense_Mutation_p.E1056K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E1079K|KIF21A_ENST00000361418.5_Missense_Mutation_p.E1092K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E1079K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1092					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGATTTAATTCTGCCTTCTCT	0.373000													4	71					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1522382	1522382	+	Splice_Site	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:1522382C>G	ENST00000534940.1	-	13	1697	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	ASMTL_ENST00000381317.3_Splice_Site_p.G549A|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000416733.2_Splice_Site_p.G473A|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381333.4_Splice_Site_p.G533A	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	549	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCGGCCCCTGAGGGAGA	0.642000													8	65					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156681	26156681	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:26156681G>A	ENST00000304218.3	+	1	123	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	21					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTCCCGTGAAGAAGAAGGCCC	0.647000													35	117					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000449407.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522000													5	407					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826498	34826498	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:34826498G>A	ENST00000192788.5	+	14	2536	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E789K	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	789										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGACTTACAGAAGTCATGGA	0.463000													44	137					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13395134	13395134	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:13395134C>T	ENST00000254508.5	-	18	2630	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	850					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTTCCTGATGCCTCGTGAACC	0.597000													7	71					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19587227	19587227	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:19587227C>T	ENST00000397821.3	-	13	1668	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.D199N|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.D222N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D423N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	460					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCACCAATGTCATTGCTGCGG	0.478000													42	119					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038011	185038011	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:185038011C>G	ENST00000296741.2	-	5	994	c.853G>C	c.(853-855)Gag>Cag	p.E285Q		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	285					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTCTTGCCTCAGAGTGTTTC	0.542000													47	83					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747784	156747784	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:156747784C>T	ENST00000347377.6	+	15	2076	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	CYFIP2_ENST00000318218.6_Missense_Mutation_p.R549C|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R549C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R474C|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R223C|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R353C|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R523C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	549					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCCCCGGCGTGCTGTGGG	0.612000													5	11					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	922874	922874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:922874C>T	ENST00000537687.1	+	2	1469	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	WNK1_ENST00000447667.2_Nonsense_Mutation_p.Q276*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q276*|WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q276*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q276*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	276	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAAGGTCTTCAGCATCCCAA	0.348000													7	38					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	6					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459405	84459405	+	Silent	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:84459405C>A	ENST00000416219.2	+	11	1073	c.984C>A	c.(982-984)gtC>gtA	p.V328V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.V328V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	328					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGATCGGGGTCAGGTAAGAGT	0.547000													50	173					3.68337e-26	3.97204e-26	1	1	0
ERCC1	2067	broad.mit.edu	37	19	45918214	45918214	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:45918214C>T	ENST00000300853.3	-	7	1198	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ERCC1_ENST00000013807.5_Missense_Mutation_p.E203K|ERCC1_ENST00000423698.2_Missense_Mutation_p.E131K|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000340192.7_Missense_Mutation_p.E203K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E203K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	203					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGCTTCCTCGGGGCTGGGA	0.537000								Nucleotide excision repair (NER)					20	48					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56423184	56423184	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:56423184C>G	ENST00000290649.5	-	9	1399	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	397					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCCAAGTTCTCTCCTTGATGT	0.453000													21	83					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614270	36614270	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:36614270C>T	ENST00000311485.3	-	2	1610	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	483					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTCTTGCTATCTCCACATGCT	0.473000									Familial Hemophagocytic Lymphohistiocytosis				42	72					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19022953	19022953	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:19022953C>T	ENST00000379878.3	-	22	2077	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	GPR64_ENST00000357544.3_Silent_p.L598L|GPR64_ENST00000356606.4_Silent_p.L614L|GPR64_ENST00000354791.3_Silent_p.L612L|GPR64_ENST00000340581.3_Silent_p.L509L|GPR64_ENST00000379873.2_Silent_p.L628L|GPR64_ENST00000379876.1_Silent_p.L604L|GPR64_ENST00000357991.3_Silent_p.L625L|GPR64_ENST00000360279.4_Silent_p.L606L|GPR64_ENST00000379869.3_Silent_p.L628L	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	628	GPS.				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAATGAACGTCAGAGCCATCA	0.348000													88	214					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5975424	5975424	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:5975424C>T	ENST00000531445.1	-	4	1838	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	C4orf50_ENST00000324058.5_Missense_Mutation_p.E124K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	124										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GCCGTGTACTCAGCCAGTGCC	0.627000													62	192					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	25					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47901397	47901397	+	Silent	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:47901397G>T	ENST00000507489.1	-	6	992	c.816C>A	c.(814-816)ctC>ctA	p.L272L	NFXL1_ENST00000381538.3_Silent_p.L272L|NFXL1_ENST00000329043.3_Silent_p.L272L	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	272						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTGGATGACAGAGGAGTAAAC	0.358000													16	58					1.15088e-07	1.20335e-07	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49420670	49420670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:49420670G>A	ENST00000301067.7	-	48	15078	c.15079C>T	c.(15079-15081)Cga>Tga	p.R5027*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGCATGTCTCGCGGTACCTTG	0.622000													40	67					0	0	1	0	0
C10orf11	83938	broad.mit.edu	37	10	77818512	77818512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:77818512G>T	ENST00000372499.1	+	4	618	c.403G>T	c.(403-405)Gga>Tga	p.G135*	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	135										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GTTGGTCAGAGGAGTCTTCAT	0.493000													4	69					0.014758	0.0148878	1	1	0
WEE1	7465	broad.mit.edu	37	11	9598141	9598141	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:9598141G>A	ENST00000299613.6	+	4	1067	c.312G>A	c.(310-312)aaG>aaA	p.K104K	WEE1_ENST00000450114.2_Silent_p.K318K	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	318					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		AGTGTGTGAAGAGGCTGGATG	0.383000													37	76					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187197437	187197437	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:187197437C>G	ENST00000264692.4	+	7	825	c.492C>G	c.(490-492)gaC>gaG	p.D164E	F11_ENST00000403665.2_Missense_Mutation_p.D216E			P03951	FA11_HUMAN	coagulation factor XI	216	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCAACATCGACAGTGTCATGG	0.478000													8	76					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588289	39588289	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr13:39588289G>C	ENST00000352251.3	-	11	1933	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	PROSER1_ENST00000350125.3_Nonsense_Mutation_p.S345*|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	367	Pro-rich.																ACCTGGCAGTGACACTAGGCC	0.522000													13	72					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1055153	1055153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:1055153G>A	ENST00000263094.6	+	30	4239	c.4008G>A	c.(4006-4008)tgG>tgA	p.W1336*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W1336*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W1198*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1336					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCAACTGGACCCCAGAGT	0.682000													9	19					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325125	74325125	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:74325125G>C	ENST00000322348.4	-	1	1599	c.738C>G	c.(736-738)ctC>ctG	p.L246L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	246					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTGCTCCATTGAGTTTTTTCA	0.383000													26	64					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538785	1538785	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:1538785G>A	ENST00000389470.4	-	9	1346	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	INTS1_ENST00000404767.3_Silent_p.L321L			Q8N201	INT1_HUMAN	integrator complex subunit 1	321					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCTCTCCGCGAGCTCTTCGT	0.697000													10	36					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47201746	47201746	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:47201746C>G	ENST00000539589.1	-	6	936	c.594G>C	c.(592-594)gaG>gaC	p.E198D	PACSIN3_ENST00000298838.6_Missense_Mutation_p.E198D	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	198					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						CCTTCTCGGCCTCCTTGGCAC	0.647000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	69					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849417	98849417	+	RNA	SNP	T	T	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:98849417T>A	ENST00000554295.1	-	0	1506					NR_033801.1																						TAGGATGCCGTGTCACAGATG	0.522000													4	23					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967116	106967116	+	RNA	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:106967116G>A	ENST00000390622.2	-	0	587																											GACTGTGCTCGTGGACGTGTC	0.537000													53	257					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877885	38877885	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:38877885G>A	ENST00000334928.6	-	3	149	c.17C>T	c.(16-18)tCg>tTg	p.S6L	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	6					cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGATGGCTCCGACTGCAAGTT	0.657000													6	9					0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103842089	103842089	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:103842089T>C	ENST00000337198.5	-	10	2143	c.980A>G	c.(979-981)aAa>aGa	p.K327R	AZIN1_ENST00000347770.4_Missense_Mutation_p.K327R	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	327					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CTCAGACAGTTTACTTGCAAA	0.348000													47	103					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110768655	110768655	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:110768655C>T	ENST00000369787.3	+	3	1701	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	KCNC4_ENST00000438661.2_Silent_p.L558L|KCNC4_ENST00000413138.3_Silent_p.L558L|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	558					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGCTGGCCTCACCCAACCCC	0.647000													26	74					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128333475	128333475	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:128333475C>T	ENST00000392668.4	-	9	1255	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ETS1_ENST00000526145.2_Missense_Mutation_p.D260N|ETS1_ENST00000319397.6_Missense_Mutation_p.D347N|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.D131N|ETS1_ENST00000345075.4_Missense_Mutation_p.D260N	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CAGGATTTATCAGTGAGTAAT	0.458000													45	60					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324341	161324341	+	Silent	SNP	G	G	A	rs74873701		TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:161324341G>A	ENST00000428797.2	+	11	1639	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	GABRA1_ENST00000023897.6_Silent_p.P428P|GABRA1_ENST00000437025.2_Silent_p.P428P|GABRA1_ENST00000393943.4_Silent_p.P428P|GABRA1_ENST00000420560.1_Silent_p.P428P|GABRA1_ENST00000444819.1_Silent_p.P428P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	428					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TAGCCTTCCCGCTGCTATTTG	0.428000													42	102					0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73638409	73638409	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:73638409G>C	ENST00000460943.1	+	12	1399	c.510G>C	c.(508-510)ctG>ctC	p.L170L	LAT2_ENST00000398475.1_Silent_p.L170L|LAT2_ENST00000275635.7_Silent_p.L170L|LAT2_ENST00000344995.5_Silent_p.L170L	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	170					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CACTGGCCCTGAAGACTGGCC	0.607000													13	49					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974741	21974741	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr9:21974741C>G	ENST00000304494.5	-	1	356	c.86G>C	c.(85-87)cGg>cCg	p.R29P	CDKN2A_ENST00000579122.1_Missense_Mutation_p.R29P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R29P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R29P|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	29					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.R29fs*9(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCAGCGCCCGCACCTCCTC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	69					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:721618G>A	ENST00000533256.1	+	11	1197	c.822G>A	c.(820-822)caG>caA	p.Q274Q	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.Q290Q|EPS8L2_ENST00000530636.1_Silent_p.Q274Q|EPS8L2_ENST00000318562.8_Silent_p.Q274Q			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	274						cytoplasm		p.Q274Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.647000													18	51					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42490329	42490329	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:42490329C>T	ENST00000318522.5	+	5	786	c.524C>T	c.(523-525)cCa>cTa	p.P175L	EML4_ENST00000402711.2_Missense_Mutation_p.P117L|EML4_ENST00000401738.3_Missense_Mutation_p.P175L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	175					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATAAAACGACCATCACCAGCT	0.318000			T	ALK	NSCLC								12	35					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122216530	122216530	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:122216530C>G	ENST00000263710.4	-	13	1589	c.1200G>C	c.(1198-1200)ggG>ggC	p.G400G	CLASP1_ENST00000541377.1_Silent_p.G400G|CLASP1_ENST00000541859.1_Silent_p.G169G|CLASP1_ENST00000545861.1_Silent_p.G168G|CLASP1_ENST00000455322.2_Silent_p.G400G|CLASP1_ENST00000397587.3_Silent_p.G400G|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000409078.3_Silent_p.G400G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	400					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAAACTTATTCCCCAGAACTG	0.368000													71	130					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153930887	153930887	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:153930887C>T	ENST00000368633.1	-	1	214	c.87G>A	c.(85-87)caG>caA	p.Q29Q	CRTC2_ENST00000368630.3_Silent_p.Q29Q	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	29					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACGCTGCTTCTGCAGCGCAA	0.672000													11	30					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100336089	100336089	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:100336089C>T	ENST00000294724.4	+	6	1276	c.798C>T	c.(796-798)taC>taT	p.Y266Y	AGL_ENST00000361522.4_Silent_p.Y249Y|AGL_ENST00000361915.3_Silent_p.Y266Y|AGL_ENST00000370165.3_Silent_p.Y266Y|AGL_ENST00000370163.3_Silent_p.Y266Y|AGL_ENST00000370161.2_Silent_p.Y250Y|AGL_ENST00000361302.3_Silent_p.Y250Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	266					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAGGGAAATACAAAGAAAAGG	0.378000													7	68					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20833191	20833191	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:20833191A>T	ENST00000359062.3	+	16	3452	c.3412A>T	c.(3412-3414)Aag>Tag	p.K1138*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1138					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACCAACCCAAAAGCCAGACCA	0.473000													16	53					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117863	194117863	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:194117863G>A	ENST00000401815.1	-	1	1220	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	GP5_ENST00000323007.3_Silent_p.F383F			P40197	GPV_HUMAN	glycoprotein V (platelet)	383					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TGAGATTGCGGAAGAGGGCAC	0.716000													3	11					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747356	14747356	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr9:14747356G>C	ENST00000380881.4	-	34	6733	c.5918C>G	c.(5917-5919)tCc>tGc	p.S1973C	FREM1_ENST00000380894.1_Missense_Mutation_p.S508C|FREM1_ENST00000422223.2_Missense_Mutation_p.S1972C|FREM1_ENST00000380880.3_Missense_Mutation_p.S1972C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1972					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACTAATGATGGATACTTTGGC	0.428000													34	71					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171405270	171405270	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:171405270C>T	ENST00000356327.5	-	15	1714	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000351298.4_Silent_p.L548L|PLD1_ENST00000340989.4_Silent_p.L548L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	548	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.L548L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTATTCCTTTCAGTTTTGAAT	0.433000													27	88					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													4	196					0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612132	47612132	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:47612132G>A	ENST00000302514.3	-	2	747	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	77	C1q 1.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGAAGGAGAAGAAGTAGGCGC	0.662000													13	7					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644179	37644179	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:37644179G>A	ENST00000356958.4	-	5	880	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.H153Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H153Y|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H153Y			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCGGTATGAATTCTCTGA	0.398000													36	76					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75262778	75262778	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:75262778C>G	ENST00000220822.7	+	1	162	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V	GDAP1_ENST00000434412.2_Intron|GDAP1_ENST00000521096.1_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	28	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TAAGCTCATTCTGTACCATTG	0.622000													11	77					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110897208	110897208	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:110897208G>A	ENST00000265171.5	+	13	2315	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	EGF_ENST00000509793.1_Missense_Mutation_p.E582K|EGF_ENST00000503392.1_Missense_Mutation_p.E624K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	624					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCCACGAATTGAAAGTTCTTC	0.383000													29	163					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24302375	24302375	+	Missense_Mutation	SNP	G	G	A	rs145078765	byFrequency	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:24302375G>A	ENST00000238721.4	-	4	1609	c.755C>T	c.(754-756)tCa>tTa	p.S252L	TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000313482.4_Intron|TP53I3_ENST00000407482.1_Intron|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.S252L	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	252					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTAGCTTTGAAAACAGGGG	0.463000													41	139					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45726197	45726197	+	Silent	SNP	C	C	G	rs148089389	byFrequency	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:45726197C>G	ENST00000297323.7	+	14	2401	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	793					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCATCCTGCTCTTCTCCTGTG	0.627000													9	59					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121561169	121561169	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:121561169G>A	ENST00000395601.3	-	6	1580	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L	SNTB1_ENST00000517992.1_Missense_Mutation_p.S389L	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	389	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCCTGGGGTGATCCCTTTCC	0.507000													10	55					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39077763	39077763	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:39077763C>T	ENST00000261425.3	+	3	714	c.562C>T	c.(562-564)Cac>Tac	p.H188Y	KLHL5_ENST00000504108.1_Missense_Mutation_p.H234Y|KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.H234Y|KLHL5_ENST00000508137.2_Missense_Mutation_p.H47Y|KLHL5_ENST00000359687.2_Missense_Mutation_p.H234Y	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	234						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AATTCCAGCTCACAGGTAGTT	0.318000													10	40					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73986732	73986732	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:73986732C>G	ENST00000358602.4	-	20	3831	c.3715G>C	c.(3715-3717)Gac>Cac	p.D1239H	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D988H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D1126H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1239					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCCCATGTCTAACAGGAGC	0.473000													16	133					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687273	159687273	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:159687273G>A	ENST00000297267.9	+	21	5642	c.5442G>A	c.(5440-5442)ctG>ctA	p.L1814L	FNDC1_ENST00000340366.6_Silent_p.L1751L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1814						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTGACAACCTGAAAGGTAAGT	0.433000													32	71					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61121451	61121451	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:61121451G>A	ENST00000317995.4	-	8	1030	c.766C>T	c.(766-768)Cat>Tat	p.H256Y		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	256					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCCTTAACATGTGTCCTCAGC	0.403000													15	64					0	0	1	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14619024	14619024	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr9:14619024G>C	ENST00000380916.4	-	10	1204	c.738C>G	c.(736-738)ttC>ttG	p.F246L		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21						nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		TGAAAGGAATGAACCACAGGA	0.507000													16	26					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70136662	70136662	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:70136662G>A	ENST00000388768.2	-	13	1704	c.1378C>T	c.(1378-1380)Ctc>Ttc	p.L460F	RUFY2_ENST00000602465.1_Missense_Mutation_p.L425F|RUFY2_ENST00000265865.3_Missense_Mutation_p.L15F	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	474						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATTTACTGAGACATTCTTGT	0.388000													74	147					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25657159	25657159	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr20:25657159C>T	ENST00000376436.1	-	4	1304	c.765G>A	c.(763-765)caG>caA	p.Q255Q	ZNF337_ENST00000252979.5_Silent_p.Q255Q|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.Q223Q|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGTGTCCTCTGGTGTCTGA	0.527000													42	131					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798260	7798260	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:7798260C>G	ENST00000303635.7	+	16	4107	c.3900C>G	c.(3898-3900)ctC>ctG	p.L1300L	CAMTA1_ENST00000439411.2_Silent_p.L1300L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGGAACTCTCCCCTCCCA	0.512000			T	WWTR1	epitheliod hemangioendothelioma								11	39					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913315	129913315	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:129913315C>T	ENST00000368654.3	-	7	1732	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	453					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E453Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATCTTCCTCTCAACTTGAGTG	0.443000													30	92					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725660	12725660	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:12725660A>T	ENST00000380682.1	+	13	1866	c.1360A>T	c.(1360-1362)Aaa>Taa	p.K454*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	454	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATCAACACCAAAACCAATCT	0.502000													33	112					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784967	9784967	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:9784967C>G	ENST00000304374.2	+	1	1710	c.1314C>G	c.(1312-1314)ttC>ttG	p.F438L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	438					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCGCATGTTCCAGATCTATC	0.547000													12	63					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32210986	32210986	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr22:32210986G>A	ENST00000400246.1	+	21	1596	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	DEPDC5_ENST00000535622.1_Missense_Mutation_p.R485Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R485Q|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R485Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R485Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R485Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R485Q|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R485Q|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R457Q|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R485Q			O75140	DEPD5_HUMAN	DEP domain containing 5	485					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGATCTGTGCGAGAGCGAGAG	0.527000													28	59					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082377	152082377	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:152082377G>A	ENST00000368804.1	-	2	3315	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTCTCCCGCTCCTGGCGC	0.617000													4	221					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73768220	73768220	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:73768220C>T	ENST00000223398.6	+	4	1016	c.689C>T	c.(688-690)aCg>aTg	p.T230M	CLIP2_ENST00000361545.5_Missense_Mutation_p.T230M|CLIP2_ENST00000395060.1_Missense_Mutation_p.T230M	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	230						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTTGGCGGGACGAAGACTGGC	0.632000													33	117					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38178908	38178908	+	Missense_Mutation	SNP	A	A	G	rs140903543	by1000genomes	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:38178908A>G	ENST00000407257.1	+	2	697	c.550A>G	c.(550-552)Act>Gct	p.T184A	RMDN2_ENST00000234195.3_Missense_Mutation_p.T184A|RMDN2_ENST00000402091.3_Missense_Mutation_p.T184A|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		TGAATATAACACTAAAAATTT	0.318000													43	77					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93701817	93701817	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:93701817G>C	ENST00000343253.7	+	19	2972	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	CCDC18_ENST00000334652.5_Missense_Mutation_p.E120Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E943Q|CCDC18_ENST00000338949.4_Missense_Mutation_p.E580Q|CCDC18_ENST00000421014.2_Intron|CCDC18_ENST00000401026.3_Missense_Mutation_p.E825Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	824										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GTCAAAACTGGAACAAGAACT	0.323000													3	51					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56270266	56270266	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:56270266C>G	ENST00000327381.6	+	2	935	c.835C>G	c.(835-837)Cga>Gga	p.R279G		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTAGGTATTCGAAGCCGACA	0.388000													38	80					0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121259672	121259672	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:121259672C>G	ENST00000392865.1	-	5	519	c.457G>C	c.(457-459)Gat>Cat	p.D153H	RGS10_ENST00000369101.3_Missense_Mutation_p.D159H|RGS10_ENST00000369103.2_Missense_Mutation_p.D167H|RGS10_ENST00000469575.1_5'UTR	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	159					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GTTTGAGCATCAGGCAAATCT	0.428000													29	67					0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309830	22309830	+	RNA	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:22309830G>A	ENST00000390433.1	+	0	214																											GCTGATGTCCGTATACTCCAG	0.458000													4	116					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34482847	34482847	+	Missense_Mutation	SNP	A	A	G	rs148712764	by1000genomes	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:34482847A>G	ENST00000241052.4	+	9	1195	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	369					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.N369S(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTGGGACCCAATTATCTTCAT	0.507000													47	98					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60750237	60750237	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:60750237C>T	ENST00000395076.4	+	2	1246	c.816C>T	c.(814-816)gtC>gtT	p.V272V	PPM1A_ENST00000325642.3_Silent_p.V345V|PPM1A_ENST00000325658.3_Silent_p.V272V|PPM1A_ENST00000529574.1_Silent_p.V272V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	272					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ATGAAGTAGTCGACACCTGTT	0.333000													12	157					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112451194	112451194	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:112451194G>A	ENST00000230538.7	-	30	4414	c.4017C>T	c.(4015-4017)acC>acT	p.T1339T	LAMA4_ENST00000424408.2_Silent_p.T1332T|LAMA4_ENST00000522006.1_Silent_p.T1332T|LAMA4_ENST00000389463.4_Silent_p.T1332T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1339	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTTCCCTTTGGTAGGATTCT	0.388000													22	44					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21992383	21992383	+	Silent	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:21992383C>G	ENST00000594012.1	-	7	952	c.438G>C	c.(436-438)gtG>gtC	p.V146V	ZNF43_ENST00000354959.4_Silent_p.V152V|ZNF43_ENST00000595461.1_Silent_p.V146V|ZNF43_ENST00000598381.1_Silent_p.V146V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GAAAGGCTTTCACACATTTAT	0.333000													16	44					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70817458	70817458	+	Splice_Site	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:70817458C>A	ENST00000261776.5	-	6	855		c.e6-1			NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)						interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GAACCAGGATCTGACCAGGGG	0.572000													17	67					2.48551e-13	2.6471e-13	1	1	0
ZNF815P	401303	broad.mit.edu	37	7	5879679	5879679	+	RNA	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:5879679G>C	ENST00000421890.1	+	0	612																											TGTGATGCTGGAGAACTACAG	0.552000													4	29					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2241811	2241811	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:2241811G>C	ENST00000243706.4	-	2	1092	c.863C>G	c.(862-864)tCa>tGa	p.S288*	HAUS3_ENST00000506763.1_Nonsense_Mutation_p.S288*|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Nonsense_Mutation_p.S288*|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	288					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTTTATACTTGACTTCATGCT	0.398000													24	40					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49218080	49218080	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:49218080G>C	ENST00000301050.2	+	4	530	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	CACNB3_ENST00000540990.1_Missense_Mutation_p.E98Q|CACNB3_ENST00000547230.1_Missense_Mutation_p.E70Q|CACNB3_ENST00000547392.1_Missense_Mutation_p.E111Q|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000536187.2_Missense_Mutation_p.E110Q	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	111	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GCTAGTGAAAGAGGGCGGGGA	0.637000													8	13					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58109878	58109878	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:58109878C>G	ENST00000315970.7	+	7	835	c.794C>G	c.(793-795)tCa>tGa	p.S265*	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Nonsense_Mutation_p.S265*|OS9_ENST00000389146.6_Nonsense_Mutation_p.S265*|OS9_ENST00000439210.2_Nonsense_Mutation_p.S206*|OS9_ENST00000257966.8_Nonsense_Mutation_p.S266*|OS9_ENST00000389142.5_Nonsense_Mutation_p.S265*|OS9_ENST00000551035.1_Nonsense_Mutation_p.S233*|OS9_ENST00000435406.2_Nonsense_Mutation_p.S213*	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	265					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCAGTAGACTCAAAGCAGTAT	0.517000													5	66					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467640	66467640	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:66467640A>T	ENST00000273854.3	-	3	1229	c.629T>A	c.(628-630)tTt>tAt	p.F210Y	EPHA5_ENST00000432638.2_Missense_Mutation_p.F210Y|EPHA5_ENST00000354839.4_Missense_Mutation_p.F210Y|EPHA5_ENST00000511294.1_Missense_Mutation_p.F210Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	210					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCAAGATAAAATCCCTTTTT	0.418000										TSP Lung(17;0.13)			4	59					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40762971	40762971	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:40762971G>C	ENST00000397128.2	-	9	1597	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.S545C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	530					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AACAGGAGAAGAGTCAAGTGA	0.393000													32	51					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42891795	42891795	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr13:42891795C>G	ENST00000025301.2	+	12	5711	c.5536C>G	c.(5536-5538)Cat>Gat	p.H1846D		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1846					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACTTTATTTTCATGACTCTGC	0.408000													11	42					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20851967	20851967	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:20851967G>A	ENST00000262715.5	-	25	3685	c.3645C>T	c.(3643-3645)ctC>ctT	p.L1215L	TEP1_ENST00000556935.1_Silent_p.L1107L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1215	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGAGGCGTCTGAGCAGAGTGA	0.587000													10	25					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744539	17744539	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:17744539G>A	ENST00000380060.3	+	6	2588	c.2250G>A	c.(2248-2250)gcG>gcA	p.A750A	NHS_ENST00000398097.3_Silent_p.A594A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	750						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGACAAAGCGGACACTAGCT	0.483000													15	163					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586488	237586488	+	Silent	SNP	A	A	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:237586488A>G	ENST00000366574.2	+	12	1262	c.945A>G	c.(943-945)ctA>ctG	p.L315L	RYR2_ENST00000542537.1_Silent_p.L299L|RYR2_ENST00000360064.6_Silent_p.L313L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	315	MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAACCTTCTACTCATGGACA	0.418000													13	132					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003485	75003485	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:75003485C>A	ENST00000373359.2	-	1	1594	c.1402G>T	c.(1402-1404)Ggt>Tgt	p.G468C		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	468	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCGAGGACCCCATAGAAGC	0.478000													26	47					1.55469e-16	1.66092e-16	1	1	0
PER2	8864	broad.mit.edu	37	2	239184400	239184400	+	Silent	SNP	G	G	A	rs138741721	byFrequency	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:239184400G>A	ENST00000254657.3	-	4	711	c.432C>T	c.(430-432)agC>agT	p.S144S	PER2_ENST00000355768.2_Silent_p.S144S|PER2_ENST00000440245.1_Silent_p.S144S|PER2_ENST00000254658.3_Silent_p.S144S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	144					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTGCTTCACGCTCCTGAGGG	0.493000													24	191					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139383	56139383	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr20:56139383G>C	ENST00000319441.4	+	7	1284	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	PCK1_ENST00000543666.1_Missense_Mutation_p.D57H|PCK1_ENST00000535860.1_Missense_Mutation_p.D242H	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	374					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGAAGGCATTGATGAGCCGCT	0.557000													17	53					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551555	152551555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:152551555C>T	ENST00000256001.8	+	12	1308	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	ACTR3B_ENST00000377776.3_Nonsense_Mutation_p.Q322*|ACTR3B_ENST00000397282.2_Nonsense_Mutation_p.Q304*|ACTR3B_ENST00000537264.1_Nonsense_Mutation_p.Q304*	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	392					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CGAGTTCTTTCAGGTCTGCCA	0.537000													30	70					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726694	12726694	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:12726694C>T	ENST00000376221.1	+	4	1172	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	391						integral to membrane	carboxylesterase activity	p.P391L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCTCTTTCCCATGTTCCCTG	0.488000													23	113					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25228904	25228904	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:25228904C>A	ENST00000399916.1	-	6	1437	c.999G>T	c.(997-999)caG>caT	p.Q333H	RUNX3_ENST00000308873.6_Missense_Mutation_p.Q319H|RUNX3_ENST00000540420.1_Missense_Mutation_p.Q226H|RUNX3_ENST00000338888.3_Missense_Mutation_p.Q333H	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	319	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		AGGGCCCGCTCTGGTTCTGCG	0.687000													28	51					1.74197e-06	1.79413e-06	1	1	0
CORO1C	23603	broad.mit.edu	37	12	109052525	109052525	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:109052525C>G	ENST00000261401.3	-	5	791	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	CORO1C_ENST00000549772.1_Missense_Mutation_p.E213Q|CORO1C_ENST00000420959.2_Missense_Mutation_p.E260Q|CORO1C_ENST00000541050.1_Missense_Mutation_p.E207Q|CORO1C_ENST00000421578.2_Missense_Mutation_p.E102Q|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	207					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCAACAATCTCTTGTTTCCTG	0.453000													16	59					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880408	24880408	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:24880408G>A	ENST00000382554.3	+	5	2859	c.2541G>A	c.(2539-2541)gtG>gtA	p.V847V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	847					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACCGGAGGGTGAGAGGTGAGG	0.602000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	134					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645281	94645281	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:94645281C>T	ENST00000260526.6	-	20	2662	c.2480G>A	c.(2479-2481)cGg>cAg	p.R827Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	827	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATTCTTACCGCTTTAGATG	0.269000													15	50					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981192	201981192	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:201981192G>A	ENST00000359651.3	+	2	3463	c.271G>A	c.(271-273)Gac>Aac	p.D91N	ELF3_ENST00000367284.5_Missense_Mutation_p.D91N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.D91N			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	91	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGCGCCATTGACTTCTCACG	0.577000													43	95					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236767273	236767273	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:236767273C>T	ENST00000366582.3	-	2	237	c.123G>A	c.(121-123)agG>agA	p.R41R	HEATR1_ENST00000366579.1_Silent_p.R41R|HEATR1_ENST00000366581.2_Silent_p.R41R	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	41					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGCGGTGTCCCTGTCGATTG	0.448000													9	119					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401616	140401616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:140401616C>A	ENST00000286349.3	+	2	845	c.654C>A	c.(652-654)taC>taA	p.Y218*		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	218						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCAAGCGCTACATGCAGGAGC	0.622000													14	122					7.93312e-07	8.24469e-07	1	1	0
FAT1	2195	broad.mit.edu	37	4	187521451	187521451	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:187521451G>C	ENST00000441802.2	-	22	11913	c.11704C>G	c.(11704-11706)Cag>Gag	p.Q3902E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3902	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGCTCTGAACAGAGACA	0.473000										HNSCC(5;0.00058)			5	36					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918273	51918273	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:51918273G>A	ENST00000356298.5	-	8	1536	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000339313.5_Silent_p.L474L|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Silent_p.L416L	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	474					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CACCAGCGCAGAGAGGGGGCC	0.706000													3	35					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102467500	102467500	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:102467500G>A	ENST00000360184.4	+	20	4368	c.4204G>A	c.(4204-4206)Gaa>Aaa	p.E1402K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1402	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCTGGTGATTGAACTGAAATC	0.448000													51	330					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144469219	144469219	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:144469219G>A	ENST00000283131.3	+	22	3373	c.2911G>A	c.(2911-2913)Gat>Aat	p.D971N		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	971	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAATGTTTATGATGAATTGCG	0.363000													14	42					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66617032	66617032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:66617032C>T	ENST00000262146.4	+	5	511	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Nonsense_Mutation_p.Q96*	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	129						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGAAGAGCCTCAGCTGAAGAC	0.493000													6	53					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32199070	32199070	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr20:32199070C>G	ENST00000492345.1	+	5	974	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V	CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L97V|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L97V|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.L126V|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L117V|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L126V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L136V|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L97V			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	126	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTTACCACTCTGCAACAGTT	0.507000													32	122					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012774	189012774	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:189012774G>A	ENST00000512729.1	-	7	1291	c.917C>T	c.(916-918)cCc>cTc	p.P306L	TRIML2_ENST00000326754.3_Missense_Mutation_p.P331L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	306	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTCAGAGGGGGGAAGACCCA	0.562000													35	319					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342573	118342573	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:118342573C>G	ENST00000534358.1	+	3	722	c.699C>G	c.(697-699)atC>atG	p.I233M	KMT2A_ENST00000354520.4_Missense_Mutation_p.I233M|KMT2A_ENST00000389506.5_Missense_Mutation_p.I233M	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAGTAAAAATCAAAATAACAC	0.363000													16	60					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436338	248436338	+	Missense_Mutation	SNP	G	G	T	rs147622928		TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:248436338G>T	ENST00000318021.2	-	1	800	c.779C>A	c.(778-780)cCc>cAc	p.P260H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P260R(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ATGGGATTTGGGTCTCATATA	0.478000													30	122					3.1745e-13	3.37045e-13	1	1	0
PGR	5241	broad.mit.edu	37	11	100909902	100909902	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:100909902T>C	ENST00000325455.5	-	8	4200	c.2747A>G	c.(2746-2748)cAa>cGa	p.Q916R	PGR_ENST00000534013.1_Missense_Mutation_p.Q322R|PGR_ENST00000263463.5_Missense_Mutation_p.Q814R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	916	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTTGGGTAATTGTGCAGCAAT	0.363000													14	42					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	68					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503025	45503025	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr21:45503025A>G	ENST00000291574.4	+	14	2255	c.2080A>G	c.(2080-2082)Att>Gtt	p.I694V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	694					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CACGACTGGGATTATCTGCAG	0.542000													22	72					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027784	37027784	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:37027784G>A	ENST00000358047.3	+	1	1353	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	434										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGCGGATCTCAT	0.617000													27	97					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569930	107569930	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:107569930C>G	ENST00000393561.1	-	28	4928	c.4744G>C	c.(4744-4746)Gag>Cag	p.E1582Q	LAMB1_ENST00000222399.6_Missense_Mutation_p.E1558Q|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1558	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAATAACCTCTACTTGAGAA	0.423000													24	56					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56531992	56531992	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:56531992C>G	ENST00000394048.5	+	21	2537	c.2273C>G	c.(2272-2274)tCt>tGt	p.S758C	ESYT1_ENST00000541590.1_Missense_Mutation_p.S768C|ESYT1_ENST00000267113.4_Missense_Mutation_p.S768C|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	758						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GATGTCCCATCTGGCCGCCTG	0.587000													37	247					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661066	3661066	+	Silent	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:3661066G>T	ENST00000335312.3	-	5	454	c.366C>A	c.(364-366)ctC>ctA	p.L122L	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Silent_p.L122L|PIP5K1C_ENST00000539785.1_Silent_p.L122L|PIP5K1C_ENST00000537021.1_Silent_p.L122L	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	122	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGCGGGGGTGAGGTTGCTGC	0.622000													44	96					5.73435e-26	6.16443e-26	1	1	0
MRPL19	9801	broad.mit.edu	37	2	75881894	75881894	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:75881894C>T	ENST00000393909.2	+	5	533	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.R170W	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	170					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTATAATCCTCGGGTCCAGGA	0.388000													32	61					0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2252454	2252454	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr19:2252454C>T	ENST00000300961.6	-	7	934	c.870G>A	c.(868-870)ccG>ccA	p.P290P	JSRP1_ENST00000586471.2_Silent_p.P290P	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1		Arg-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		CCCGTGCCCACGGCCGGTGGC	0.726000													18	31					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491461	100491461	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:100491461G>A	ENST00000302913.4	-	2	531	c.393C>T	c.(391-393)aaC>aaT	p.N131N	ACHE_ENST00000411582.1_Silent_p.N131N|ACHE_ENST00000428317.1_Silent_p.N131N|ACHE_ENST00000419336.2_Silent_p.N131N|ACHE_ENST00000241069.5_Silent_p.N131N|ACHE_ENST00000412389.1_Silent_p.N131N	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	131					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	p.N131N(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GTGTCCACACGTTGAGGTACA	0.592000													38	118					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142389876	142389876	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:142389876C>G	ENST00000337777.3	+	4	489	c.276C>G	c.(274-276)ttC>ttG	p.F92L	PLS1_ENST00000457734.2_Missense_Mutation_p.F92L|PLS1_ENST00000497002.1_Missense_Mutation_p.F92L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	92						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCAAAACATTCCGAAAAATAA	0.343000													20	78					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878191	150878191	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:150878191G>A	ENST00000422024.1	-	3	1199	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	ASB10_ENST00000420175.2_Silent_p.L313L|ASB10_ENST00000434669.1_Silent_p.L358L|ASB10_ENST00000275838.1_Silent_p.L313L|ASB10_ENST00000377867.3_Silent_p.L298L	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	313					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGGACAGGAGCAGCTCCA	0.672000													15	26					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230630	75230630	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:75230630C>T	ENST00000325680.7	+	1	562	c.438C>T	c.(436-438)ccC>ccT	p.P146P	YLPM1_ENST00000552421.1_Silent_p.P146P|YLPM1_ENST00000238571.3_Silent_p.P146P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGGAATCCCCCCCTGAATCTC	0.602000													7	70					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242140758	242140758	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:242140758G>C	ENST00000274979.8	+	7	865	c.762G>C	c.(760-762)aaG>aaC	p.K254N	ANO7_ENST00000402430.3_Missense_Mutation_p.K253N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	254						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAAGCACCAAGAGGCACCAAA	0.592000													26	45					0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796354	49796354	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr13:49796354G>C	ENST00000218721.1	+	2	1080	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	360					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TCATTTCAAAGAAGTACAGAG	0.517000													13	111					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174601	11174601	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:11174601C>T	ENST00000390673.2	-	1	618	c.570G>A	c.(568-570)ctG>ctA	p.L190L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	190					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATATTAGGCTCAGAGTAAAGG	0.403000													23	130					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353090	16353090	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:16353090G>A	ENST00000375692.1	+	7	686	c.558G>A	c.(556-558)acG>acA	p.T186T	CLCNKA_ENST00000331433.4_Silent_p.T186T|CLCNKA_ENST00000439316.2_Silent_p.T143T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.T186T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	186					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGCGCACCACGACCATCGGGG	0.652000													11	80					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816297	90816297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:90816297C>G	ENST00000394980.1	+	2	494	c.175C>G	c.(175-177)Cgg>Ggg	p.R59G	MMRN1_ENST00000394981.1_Missense_Mutation_p.R59G|MMRN1_ENST00000264790.2_Missense_Mutation_p.R59G			Q13201	MMRN1_HUMAN	multimerin 1	59					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCCAACCACTCGGGTCATGTC	0.458000													15	57					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89016704	89016704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:89016704G>A	ENST00000237612.3	-	14	2250	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	ABCG2_ENST00000515655.1_Silent_p.F565F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	569	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTGAAGTACTGAAGCCATGAC	0.418000													14	37					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1273369	1273369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:1273369G>A	ENST00000378888.5	-	14	1986	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	DVL1_ENST00000378891.5_Nonsense_Mutation_p.Q543*			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	568					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCACTCTGCTGACTCCCGGTG	0.701000													9	27					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226827315	226827315	+	Silent	SNP	C	C	T	rs116826768	by1000genomes	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:226827315C>T	ENST00000429204.1	-	6	2823	c.2496G>A	c.(2494-2496)acG>acA	p.T832T	ITPKB_ENST00000272117.3_Silent_p.T832T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	832							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGCTCCCTCGTTTTGGTCT	0.572000													7	120					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477371	110477371	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:110477371G>C	ENST00000260283.4	-	10	1162	c.878C>G	c.(877-879)cCc>cGc	p.P293R	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P257R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P267R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P270R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P257R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P267R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	293	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CATAAGGAAGGGCTCCTGGAG	0.532000													68	130					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41057842	41057842	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chrX:41057842G>A	ENST00000324545.8	+	30	5075	c.4442G>A	c.(4441-4443)gGa>gAa	p.G1481E	USP9X_ENST00000378308.2_Missense_Mutation_p.G1481E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGAGAAATGGAGAGCTTCCA	0.378000													9	69					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114970427	114970427	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:114970427G>A	ENST00000358465.2	-	7	1328	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	TRIM33_ENST00000450349.2_Silent_p.F23F|TRIM33_ENST00000369543.2_Silent_p.F415F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	415					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAATTTGTGAAGTTCATAA	0.408000			T	RET	papillary thyroid								17	90					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15967419	15967419	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:15967419C>T	ENST00000268712.3	-	35	5441	c.5184G>A	c.(5182-5184)cgG>cgA	p.R1728R	NCOR1_ENST00000395857.3_Silent_p.R312R|NCOR1_ENST00000395851.1_Silent_p.R1744R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1728	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGCAGCAATCCGTtcccgct	0.552000													40	64					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221275	63221275	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:63221275C>T	ENST00000449996.3	+	18	1626	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	RGS9_ENST00000262406.9_Silent_p.I521I|RGS9_ENST00000443584.3_Silent_p.I518I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	521				Missing (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCACCACCATCTGCCCCTCAC	0.672000													108	159					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31828244	31828244	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:31828244G>A	ENST00000543095.2	-	15	2275	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	HEATR5A_ENST00000404677.3_Silent_p.L697L|HEATR5A_ENST00000439348.1_Silent_p.L691L|HEATR5A_ENST00000389961.3_Silent_p.L691L|HEATR5A_ENST00000439727.1_Silent_p.L404L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	691							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCAGCTCTCTGAGGATAGCAC	0.418000													23	61					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118584520	118584520	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:118584520G>A	ENST00000336338.5	-	21	3025	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	987						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGTAAGGTGATTTTTTCTT	0.403000													78	247					0	0	1	0	0
SRGN	5552	broad.mit.edu	37	10	70856908	70856908	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr10:70856908C>T	ENST00000242465.3	+	2	188	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	SRGN_ENST00000462445.1_Intron	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	50					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						TGCAAACTGCCTTGAAGAAAA	0.473000													33	54					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15961316	15961316	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:15961316G>A	ENST00000255759.6	-	5	535	c.506C>T	c.(505-507)tCt>tTt	p.S169F	FOPNL_ENST00000573396.1_3'UTR|FOPNL_ENST00000573968.1_Missense_Mutation_p.S95F|FOPNL_ENST00000573429.1_Missense_Mutation_p.S193F|FOPNL_ENST00000575744.1_Missense_Mutation_p.S103F|FOPNL_ENST00000575073.1_3'UTR	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	169					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GACTGCCTGAGAAACATGAAG	0.318000													7	23					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173359453	173359453	+	Splice_Site	SNP	G	G	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:173359453G>T	ENST00000265085.5	+	3	2662	c.1208G>T	c.(1207-1209)gGt>gTt	p.G403V	CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519467.1_Intron|CPEB4_ENST00000334035.5_Intron|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000522336.1_Splice_Site_p.G21V|CPEB4_ENST00000519835.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	403							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTACCTTCAGGTCGTCTAAAC	0.348000													11	34					2.80697e-09	2.96196e-09	1	1	0
MAP3K6	9064	broad.mit.edu	37	1	27687429	27687429	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:27687429C>T	ENST00000374040.3	-	13	2139	c.1879G>A	c.(1879-1881)Gcg>Acg	p.A627T	MAP3K6_ENST00000357582.2_Missense_Mutation_p.A635T|MAP3K6_ENST00000493901.1_Missense_Mutation_p.A635T			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	635					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTCCCCCGCGCCCTCCGCC	0.731000													15	20					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	105977788	105977788	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:105977788G>A	ENST00000409177.1	-	6	1261	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	FHL2_ENST00000358129.4_Silent_p.L264L|FHL2_ENST00000344213.4_Silent_p.L374L|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393352.3_Silent_p.L264L|FHL2_ENST00000322142.8_Silent_p.L264L|FHL2_ENST00000409807.1_Silent_p.L264L|FHL2_ENST00000408995.1_Silent_p.L264L|FHL2_ENST00000393353.3_Silent_p.L264L			Q14192	FHL2_HUMAN	four and a half LIM domains 2	264					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CCCTCTCTGTGAGGAAGCCAC	0.488000													31	54					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743121	203743121	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:203743121C>T	ENST00000442561.2	+	5	899	c.509C>T	c.(508-510)tCg>tTg	p.S170L	LAX1_ENST00000367217.5_Missense_Mutation_p.S154L|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	170					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.S170L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCACTCCCTCGGCACACTGC	0.532000													12	86					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	37					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8675499	8675499	+	Silent	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:8675499G>C	ENST00000317371.4	-	11	1351	c.126C>G	c.(124-126)ctC>ctG	p.L42L	SSUH2_ENST00000544814.1_Intron|SSUH2_ENST00000415132.1_Silent_p.L42L|SSUH2_ENST00000341795.3_Silent_p.L42L					ssu-2 homolog (C. elegans)																		GGACCGAACAGAGAGGCGGGG	0.647000													15	40					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10402508	10402508	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr5:10402508C>G	ENST00000274140.5	+	13	1198	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	MARCH6_ENST00000503788.1_Missense_Mutation_p.L251V|MARCH6_ENST00000449913.2_Missense_Mutation_p.L308V|MARCH6_ENST00000510792.1_Missense_Mutation_p.L54V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	356					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTTGGCAACTCTTGTGAAATT	0.353000													32	42					0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971130	31971130	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr21:31971130C>G	ENST00000334897.3	-	1	89	c.64G>C	c.(64-66)Ggc>Cgc	p.G22R		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	22						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCTAGGCCTTCGTATCCA	0.567000													20	66					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327828	104327828	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:104327828C>T	ENST00000299767.5	+	5	688	c.506C>T	c.(505-507)tCt>tTt	p.S169F		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	169					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATAGCCAAATCTGGGACAAGC	0.443000													23	82					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248387	14248387	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:14248387G>A	ENST00000360954.2	+	2	1033	c.597G>A	c.(595-597)gaG>gaA	p.E199E		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	199					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		TCACCATGGAGAAGACGCCCA	0.617000													14	12					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633541	70633541	+	Silent	SNP	A	A	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:70633541A>T	ENST00000381269.2	-	2	2352	c.1599T>A	c.(1597-1599)acT>acA	p.T533T	SLC8A3_ENST00000356921.2_Silent_p.T533T|SLC8A3_ENST00000534137.1_Silent_p.T533T|SLC8A3_ENST00000357887.3_Silent_p.T533T|SLC8A3_ENST00000528359.1_Silent_p.T533T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	533	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACATTCAAAAGTGAAGATGC	0.498000													5	77					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176765187	176765187	+	Splice_Site	SNP	T	T	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:176765187T>C	ENST00000430069.1	-	9	1026		c.e9-2		TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CAAGGTTACCTAAAATGCAAA	0.323000													7	10					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3624168	3624168	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:3624168C>T	ENST00000378295.4	+	4	397	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TP73_ENST00000378285.1_Missense_Mutation_p.S32L|TP73_ENST00000603362.1_Missense_Mutation_p.S81L|TP73_ENST00000357733.3_Missense_Mutation_p.S81L|TP73_ENST00000346387.4_Missense_Mutation_p.S81L|TP73_ENST00000378290.4_Missense_Mutation_p.S10L|TP73_ENST00000604479.1_Missense_Mutation_p.S81L|TP73_ENST00000378288.4_Missense_Mutation_p.S32L|TP73_ENST00000354437.4_Missense_Mutation_p.S81L|TP73_ENST00000378280.1_Missense_Mutation_p.S32L|TP73_ENST00000604074.1_Missense_Mutation_p.S81L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	81					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGCGCGGCCTCGGCCAGCCCC	0.677000													21	151					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													4	62					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10830786	10830786	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:10830786G>C	ENST00000313243.2	-	2	478	c.96C>G	c.(94-96)atC>atG	p.I32M	MAK_ENST00000354489.2_Missense_Mutation_p.I32M|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.I32M|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.I32M|MAK_ENST00000538030.1_Missense_Mutation_p.I32M			P20794	MAK_HUMAN	male germ cell-associated kinase	32	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTACCTTTTGATGGCCACCA	0.498000													44	76					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242157300	242157300	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:242157300C>T	ENST00000274979.8	+	20	2437	c.2334C>T	c.(2332-2334)atC>atT	p.I778I	ANO7_ENST00000402430.3_Silent_p.I777I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	778						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGGCGGTCATCAGCAACGTGA	0.796000													8	7					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119618445	119618445	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr4:119618445C>G	ENST00000388822.5	+	7	779	c.612C>G	c.(610-612)atC>atG	p.I204M	METTL14_ENST00000506780.1_Missense_Mutation_p.I166M			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAACTGGCATCACTGCTAATG	0.338000													12	35					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43594085	43594085	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:43594085C>T	ENST00000307126.5	-	3	275	c.276G>A	c.(274-276)cgG>cgA	p.R92R	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.R4R	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	92							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTCCTGGAGCCGCCACTTCA	0.557000													11	51					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130189780	130189780	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr3:130189780C>A	ENST00000265379.6	+	39	8037	c.7543C>A	c.(7543-7545)Cca>Aca	p.P2515T	COL6A5_ENST00000432398.2_Missense_Mutation_p.P2515T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2515	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCTCCCAACCCAGAGAACGG	0.418000													4	23					0.014758	0.0148878	1	1	0
VCAM1	7412	broad.mit.edu	37	1	101200213	101200213	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:101200213G>A	ENST00000294728.2	+	8	2049	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	VCAM1_ENST00000370115.1_Missense_Mutation_p.D451N|VCAM1_ENST00000347652.2_Missense_Mutation_p.D558N|VCAM1_ENST00000370119.4_Missense_Mutation_p.D588N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	650	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAAATCTATAGATGGCGCCTA	0.398000													13	62					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198363428	198363428	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr2:198363428C>T	ENST00000388968.3	-	2	412	c.145G>A	c.(145-147)Gat>Aat	p.D49N	HSPD1_ENST00000544407.1_Missense_Mutation_p.D49N|HSPD1_ENST00000345042.2_Missense_Mutation_p.D49N	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	49					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GCCACAGCATCGGCTAAAAGG	0.423000													8	114					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189910	58189910	+	Silent	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr11:58189910G>A	ENST00000302581.2	-	1	876	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATAGCATAGAACACAGATG	0.468000													22	92					0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156594214	156594214	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:156594214G>A	ENST00000255039.1	+	5	918	c.511G>A	c.(511-513)Gag>Aag	p.E171K	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	171	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGCGTGCGAGGAGCAGGA	0.677000													4	11					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93210090	93210090	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:93210090C>T	ENST00000322349.8	-	15	2079	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	605	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GATGTGCCTTCTGCTCTTGTA	0.408000													28	108					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570785	102570785	+	Silent	SNP	C	C	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr8:102570785C>T	ENST00000251808.3	+	4	761	c.423C>T	c.(421-423)atC>atT	p.I141I	GRHL2_ENST00000395927.1_Silent_p.I125I	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	141						cytoplasm|nucleus	DNA binding	p.I141I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGTACAGCATCAGCTTCCCCG	0.512000													28	174					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537860	38537860	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr21:38537860C>G	ENST00000399017.2	+	33	6091	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C	TTC3_ENST00000355666.1_Missense_Mutation_p.S1115C|TTC3_ENST00000354749.2_Missense_Mutation_p.S1115C|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1115					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGTTACTTCTCTCAGTTTTTG	0.328000													43	94					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36762331	36762332	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:36762331_36762332insA	ENST00000354618.5	+	9	2487_2488	c.2263_2264insA	c.(2263-2265)gaafs	p.E755fs	THRAP3_ENST00000469141.2_Frame_Shift_Ins_p.E755fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	755					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTCAGCTGAAAAAACAGAG	0.431			T	USP6	aneurysmal bone cysts								37	83	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43892412	43892412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr1:43892412delC	ENST00000562955.1	+	22	3070	c.3070delC	c.(3070-3072)catfs	p.H1024fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.H182fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1081						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGGGGGTTCATGGGATCCC	0.612													7	18	---	---	---	---					
AK9	221264	broad.mit.edu	37	6	109867073	109867074	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr6:109867073_109867074insT	ENST00000424296.2	-	26	3297_3298	c.3221_3222insA	c.(3220-3222)aagfs	p.K1074fs	AK9_ENST00000341338.6_Frame_Shift_Ins_p.K153fs|AK9_ENST00000355283.1_Frame_Shift_Ins_p.K153fs	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTACTACCTGCTTTTTTGTATT	0.376													20	49	---	---	---	---					
GIMAP6	474344	broad.mit.edu	37	7	150325500	150325504	+	Frame_Shift_Del	DEL	GCCGA	GCCGA	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr7:150325500_150325504delGCCGA	ENST00000328902.5	-	3	398_402	c.182_186delTCGGC	c.(181-186)ctcggcfs	p.LG61fs	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	61							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACGTCCCTGCCGAGGATGCTGTT	0.551													44	356	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132195962	132195962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr12:132195962delG	ENST00000261674.4	+	1	329	c.188delG	c.(187-189)tggfs	p.W63fs	SFSWAP_ENST00000541286.1_Frame_Shift_Del_p.W63fs	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	63					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTCATCCCCTGGATGGGGGAC	0.612													9	89	---	---	---	---					
HECTD1	25831	broad.mit.edu	37	14	31589062	31589064	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr14:31589062_31589064delTCT	ENST00000399332.1	-	29	5735_5737	c.5247_5249delAGA	c.(5245-5250)gaagag>gag	p.1749_1750EE>E	HECTD1_ENST00000553700.1_In_Frame_Del_p.1749_1750EE>E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1749					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTTTCGTACTCTTCTTCTTCCT	0.365													22	71	---	---	---	---					
NPIPB11	728888	broad.mit.edu	37	16	29394767	29394769	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr16:29394767_29394769delTAT	ENST00000524087.1	-	8	1558_1560	c.1484_1486delATA	c.(1483-1488)aatatc>atc	p.N495del	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11																		GGTGTCTTGATATTATCATCTGC	0.586													3	5	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29588874	29588879	+	Splice_Site	DEL	AGGTAA	AGGTAA	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:29588874_29588879delAGGTAA	ENST00000358273.4	+	35	5106_5107	c.4723_4724delAGGTAA	c.(4723-4725)agg>g	p.R1575del	NF1_ENST00000356175.3_Splice_Site_p.R1554del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1575					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTATGACTAGGTAAAGTACAACCT	0.417			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	21	---	---	---	---					
EPX	8288	broad.mit.edu	37	17	56270865	56270867	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-GC-A6I1-01A-12D-A31L-08	TCGA-GC-A6I1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e91dba6a-24d8-48bd-876d-7ffb694fea03	d78271ef-3ffc-4ae5-aa66-c962e13b1571	g.chr17:56270865_56270867delGAG	ENST00000225371.5	+	3	414_416	c.304_306delGAG	c.(304-306)gagdel	p.E102del		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	102					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCTGCTTGAAGAGAAGTTACAAC	0.571													20	67	---	---	---	---