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
APOL5	80831	broad.mit.edu	37	22	36122633	36122633	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr22:36122633G>C	ENST00000249044.2	+	3	518	c.518G>C	c.(517-519)gGg>gCg	p.G173A		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	173					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	p.G173A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCAGCAACTGGGACAGGGTTG	0.547000													26	198					0	0	0.005443	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625395	74625395	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:74625395G>T	ENST00000156626.7	-	2	729	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	177					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.S177Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CACCGTCCTGGAGGCCGTCAG	0.592000													13	382					4.93089e-13	6.36907e-13	0.002450	1	0
TAL2	6887	broad.mit.edu	37	9	108424891	108424891	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:108424891G>A	ENST00000334077.3	+	1	154	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	38	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										ACAAAAAGCTGAGCAAAAATG	0.527000			T	TRB@	T-ALL								4	79					0	0	0.009096	0	0
BRINP3	339479	broad.mit.edu	37	1	190067976	190067976	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:190067976G>A	ENST00000367462.3	-	8	1704	c.1473C>T	c.(1471-1473)gaC>gaT	p.D491D	FAM5C_ENST00000534846.1_Silent_p.D389D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		491						extracellular region		p.D491D(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GATCTTGCAGGTCAGTTTCAA	0.517000													33	316					0	0	0.013726	0	0
TECTA	7007	broad.mit.edu	37	11	120996044	120996044	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr11:120996044T>G	ENST00000392793.1	+	8	1508	c.1237T>G	c.(1237-1239)Tta>Gta	p.L413V	TECTA_ENST00000264037.2_Missense_Mutation_p.L413V			O75443	TECTA_HUMAN	tectorin alpha	413	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.L413V(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTGTCACCTTAGACTTGGG	0.498000													42	355					0	0	0.008740	0	0
ABCF3	55324	broad.mit.edu	37	3	183909004	183909004	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:183909004C>T	ENST00000429586.2	+	16	1715	c.1530C>T	c.(1528-1530)cgC>cgT	p.R510R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.R504R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	510	ABC transporter 2.		R -> H (in dbSNP:rs9811715).				ATP binding|ATPase activity	p.R510R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTTCAGTCGCCTCTCTGTGT	0.537000													43	253					0	0	0.014410	0	0
C1orf106	55765	broad.mit.edu	37	1	200868613	200868613	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:200868613C>T	ENST00000367342.4	+	3	523	c.323C>T	c.(322-324)cCg>cTg	p.P108L	C1orf106_ENST00000413687.2_Missense_Mutation_p.P23L	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	108								p.P108L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCGACAGCCCGGTCTCCCCA	0.622000													17	99					0	0	0.006122	0	0
ENOX2	10495	broad.mit.edu	37	X	129771261	129771261	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:129771261T>C	ENST00000338144.3	-	12	1757	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	ENOX2_ENST00000370935.1_Missense_Mutation_p.D418G|ENOX2_ENST00000394363.1_Missense_Mutation_p.D418G|ENOX2_ENST00000370927.1_Missense_Mutation_p.D447G	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	447					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.D447G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTGTTAGGGTCATCTTCTCT	0.473000													4	345					0	0	0.000602	0	0
RNF25	64320	broad.mit.edu	37	2	219529102	219529102	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr2:219529102G>C	ENST00000295704.2	-	10	1398	c.958C>G	c.(958-960)Cca>Gca	p.P320A		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	320					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.P320A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGTCCCTGGAATCTTCTCA	0.582000													3	211					0	0	0.004672	0	0
ZNF133	7692	broad.mit.edu	37	20	18295923	18295923	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr20:18295923C>T	ENST00000377671.3	+	7	984	c.425C>T	c.(424-426)gCa>gTa	p.A142V	ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.A146V|ZNF133_ENST00000401790.1_Missense_Mutation_p.A143V|ZNF133_ENST00000402618.2_Missense_Mutation_p.A80V|ZNF133_ENST00000535822.1_Missense_Mutation_p.A48V|ZNF133_ENST00000316358.4_Missense_Mutation_p.A143V|ZNF133_ENST00000538547.1_Missense_Mutation_p.A48V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	143						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A142V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGTGATCAAGCAGAAGGTCCT	0.587000													34	259					0	0	0.006230	0	0
GPR4	2828	broad.mit.edu	37	19	46094725	46094725	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:46094725C>A	ENST00000323040.4	-	2	1344	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	134						integral to plasma membrane	G-protein coupled receptor activity	p.A134S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGGCCACGGCGGTCTTGACG	0.662000													12	100					1.3612e-06	1.68789e-06	0.003163	1	0
DNAH1	25981	broad.mit.edu	37	3	52429049	52429049	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:52429049C>G	ENST00000420323.2	+	68	11203	c.10942C>G	c.(10942-10944)Ctg>Gtg	p.L3648V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3713					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3712V(1)|p.L3648V(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCACCAACCTGGAGCCACG	0.617000													7	23					0	0	0.003080	0	0
KDM6A	7403	broad.mit.edu	37	X	44938572	44938572	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:44938572C>T	ENST00000377967.4	+	20	3161	c.3120C>T	c.(3118-3120)gcC>gcT	p.A1040A	KDM6A_ENST00000543216.1_Silent_p.A961A|KDM6A_ENST00000382899.4_Silent_p.A1047A|KDM6A_ENST00000536777.1_Silent_p.A995A	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1040					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.A1040A(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTACCAGGCCTCCTCATTCC	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								13	51					0	0	0.002450	0	0
TEK	7010	broad.mit.edu	37	9	27204929	27204929	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:27204929G>A	ENST00000380036.4	+	14	2672	c.2230G>A	c.(2230-2232)Ggg>Agg	p.G744R	TEK_ENST00000406359.4_Missense_Mutation_p.G701R|TEK_ENST00000519097.1_Missense_Mutation_p.G597R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	744					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G744R(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCGGAGGGGGGAAGATGCT	0.507000													11	122					0	0	0.002450	0	0
MST1L	11223	broad.mit.edu	37	1	17084269	17084269	+	RNA	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:17084269G>A	ENST00000455405.2	-	0	539																		p.A583V(1)									ACCCCAGCCTGCAATCTCACA	0.582000													7	700					0	0	0.001984	0	0
EMR2	30817	broad.mit.edu	37	19	14866619	14866619	+	Silent	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:14866619C>A	ENST00000315576.3	-	13	1714	c.1263G>T	c.(1261-1263)ctG>ctT	p.L421L	EMR2_ENST00000601345.1_Silent_p.L410L|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353005.1_Silent_p.L279L|EMR2_ENST00000392967.2_Silent_p.L410L|EMR2_ENST00000346057.1_Silent_p.L372L|EMR2_ENST00000594076.1_Silent_p.L328L|EMR2_ENST00000595839.1_Silent_p.L279L|EMR2_ENST00000596991.2_Silent_p.L410L|EMR2_ENST00000594294.1_Silent_p.L372L|EMR2_ENST00000353876.1_Silent_p.L328L|EMR2_ENST00000392965.3_Silent_p.L421L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	421					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L421L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCTCAGGTTCCAGGACCAGAG	0.592000													11	80					3.07112e-06	3.70927e-06	0.010729	1	0
PCDHA2	56146	broad.mit.edu	37	5	140174709	140174709	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:140174709C>T	ENST00000526136.1	+	1	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.L54L|PCDHA2_ENST00000520672.2_Silent_p.L54L	NM_018905.2	NP_061728.1												p.L54L(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTGGGGCTGGAGCTGGA	0.647000													13	178					0	0	0.013537	0	0
STAG1	10274	broad.mit.edu	37	3	136342081	136342081	+	Silent	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:136342081A>G	ENST00000383202.2	-	3	295	c.39T>C	c.(37-39)acT>acC	p.T13T	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Silent_p.T13T|STAG1_ENST00000236698.5_Silent_p.T13T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	13					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.T13T(1)		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						TAGTTTCATTAGTTGAATCCC	0.403000													3	109					0	0	0.004672	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	70					0	0	0.001168	0	0
C16orf58	64755	broad.mit.edu	37	16	31502241	31502241	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr16:31502241G>A	ENST00000327237.2	-	13	1361	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	C16orf58_ENST00000567994.1_Missense_Mutation_p.A396V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A439V			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	441						integral to membrane		p.A441V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CTTCCAGCCGGCATCCTGCAG	0.602000													4	123					0	0	0.009096	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	132					0	0	0.009096	0	0
NLGN1	22871	broad.mit.edu	37	3	173997033	173997033	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:173997033T>C	ENST00000457714.1	+	6	1671	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	NLGN1_ENST00000545397.1_Silent_p.A414A|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Silent_p.A454A|NLGN1_ENST00000361589.4_Silent_p.A414A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	431					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.A414A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGACTTTGCTGTTTCAAATT	0.338000													6	51					0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70938424	70938424	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:70938424T>C	ENST00000334414.6	-	22	5451	c.5407A>G	c.(5407-5409)Aca>Gca	p.T1803A	PTPRB_ENST00000261266.5_Missense_Mutation_p.T1585A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T1495A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T1715A|PTPRB_ENST00000538708.1_Missense_Mutation_p.T1495A|PTPRB_ENST00000451516.2_Missense_Mutation_p.T1495A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1585	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1585A(2)|p.T1803A(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGAGCTGTGTAAAAGCTCGA	0.358000													4	29					0	0	0.000602	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056605	26056605	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr6:26056605C>G	ENST00000343677.2	-	1	94	c.52G>C	c.(52-54)Gcc>Ccc	p.A18P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	18			A -> V (in dbSNP:rs2230653).		nucleosome assembly	nucleosome|nucleus	DNA binding	p.A18P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTTACAGGGGCCTTCTCCGCA	0.617000													7	119					0	0	0.003080	0	0
PPIB	5479	broad.mit.edu	37	15	64455120	64455120	+	Silent	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:64455120G>C	ENST00000300026.3	-	1	284	c.66C>G	c.(64-66)gtC>gtG	p.V22V	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	22					protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.V22V(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GCAGGAAGAAGACGGACCCCG	0.647000													4	39					0	0	0.000602	0	0
LARP4B	23185	broad.mit.edu	37	10	876909	876909	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr10:876909T>G	ENST00000316157.3	-	8	799	c.759A>C	c.(757-759)gaA>gaC	p.E253D		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	253	RRM.						nucleotide binding|RNA binding	p.E253D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATAGTGCTTCTACTTCCT	0.284000													3	37					0	0	0.004672	0	0
ARSD	414	broad.mit.edu	37	X	2825346	2825346	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:2825346C>T	ENST00000381154.1	-	10	1823	c.1748G>A	c.(1747-1749)tGt>tAt	p.C583Y		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	583						lysosome	arylsulfatase activity|metal ion binding	p.C583Y(1)		large_intestine(3)|lung(3)	6		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)				GTGGCATGAACAGAACGGGAA	0.572000													14	73					0	0	0.004007	0	0
ZNF408	79797	broad.mit.edu	37	11	46726804	46726804	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr11:46726804C>T	ENST00000311764.2	+	5	1784	c.1554C>T	c.(1552-1554)caC>caT	p.H518H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.H518H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCGGCTCCACACCGGGGAGC	0.642000													14	131					0	0	0.003163	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769453	13769453	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:13769453C>T	ENST00000279593.3	-	5	1473	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	422					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.V422M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAGGGTCCACACTTTCCACA	0.527000													5	142					0	0	0.001168	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30164791	30164791	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:30164791C>T	ENST00000436066.3	+	2	511	c.45C>T	c.(43-45)atC>atT	p.I15I	PLEKHF1_ENST00000592810.1_Silent_p.I15I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	15					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	p.I15I(1)		breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GCCAGCGCATCGCGGCAGTGG	0.662000													16	78					0	0	0.010504	0	0
TTYH2	94015	broad.mit.edu	37	17	72248464	72248464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:72248464T>C	ENST00000441391.2	+	5	1457	c.245T>C	c.(244-246)tTc>tCc	p.F82S	TTYH2_ENST00000269346.4_Missense_Mutation_p.F403S|TTYH2_ENST00000529107.1_Missense_Mutation_p.F382S	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	403						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.F403S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCCCTCGCCTTCTCCACCATG	0.617000													4	97					0	0	0.009096	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499014	31499014	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr16:31499014T>C	ENST00000330498.3	+	7	838	c.819T>C	c.(817-819)gaT>gaC	p.D273D	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	273					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.D273D(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGACCGGGGATCTGCCGTGGC	0.672000													11	54					0	0	0.007413	0	0
KIAA0922	23240	broad.mit.edu	37	4	154555427	154555427	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr4:154555427C>T	ENST00000409959.3	+	33	4461	c.4412C>T	c.(4411-4413)cCa>cTa	p.P1471L	KIAA0922_ENST00000409663.3_Missense_Mutation_p.P1470L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1387L	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1470						integral to membrane		p.P1471L(1)|p.P1323L(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AATGCCTTTCCAGAAGGTAAG	0.423000													17	139					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179413470	179413470	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr2:179413470T>C	ENST00000589042.1	-	339	93107	c.92883A>G	c.(92881-92883)aaA>aaG	p.K30961K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K22021K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K29320K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.K28393K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.K22088K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.K21896K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29320	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K28393K(1)|p.K22021K(1)|p.K22088K(1)|p.K28391K(1)|p.K21896K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGTCTGGTTTGCTCCACA	0.463000													3	110					0	0	0.009096	0	0
FSD2	123722	broad.mit.edu	37	15	83451620	83451620	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:83451620T>A	ENST00000334574.8	-	4	1074	c.893A>T	c.(892-894)aAc>aTc	p.N298I	FSD2_ENST00000541889.1_Missense_Mutation_p.N298I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	298								p.N298I(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGTATCTAGGTTTTCTCCACA	0.378000													7	550					0	0	0.001984	0	0
CDKN2D	1032	broad.mit.edu	37	19	10677773	10677773	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:10677773G>A	ENST00000393599.2	-	2	786	c.462C>T	c.(460-462)ctC>ctT	p.L154L	CDKN2D_ENST00000335766.2_Silent_p.L154L	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	154					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.L154L(1)		endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGATGTCCACGAGGTCCTGAG	0.607000													17	124					0	0	0.006122	0	0
CXCR3	2833	broad.mit.edu	37	X	70836739	70836739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chrX:70836739C>T	ENST00000373691.4	-	2	887	c.724G>A	c.(724-726)Gac>Aac	p.D242N	CXCR3_ENST00000373693.3_Missense_Mutation_p.D195N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	195					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	p.D195N(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGGCGCTCGTCGTGGTGGGCC	0.687000													5	27					0	0	0.006214	0	0
SHMT1	6470	broad.mit.edu	37	17	18250892	18250892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:18250892C>T	ENST00000316694.3	-	5	571	c.437G>A	c.(436-438)gGg>gAg	p.G146E	SHMT1_ENST00000539052.1_Missense_Mutation_p.G8E|SHMT1_ENST00000352886.6_Missense_Mutation_p.G146E|SHMT1_ENST00000354098.3_Missense_Mutation_p.G146E	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	146					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G146E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGGTGGCCCCCATCCGGAAG	0.537000													53	174					0	0	0.014410	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749775	79749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:79749775C>A	ENST00000305428.3	+	2	1361	c.1286C>A	c.(1285-1287)gCg>gAg	p.A429E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	429						integral to membrane		p.A429E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATTGCTTATGCGGCAAAACAA	0.473000													21	154					3.28513e-13	4.30305e-13	0.003954	1	0
ATP1A3	478	broad.mit.edu	37	19	42472957	42472957	+	Silent	SNP	C	C	T	rs150417636		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:42472957C>T	ENST00000545399.1	-	20	2991	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	ATP1A3_ENST00000602133.1_Silent_p.S903S|ATP1A3_ENST00000543770.1_Silent_p.S944S|ATP1A3_ENST00000302102.5_Silent_p.S933S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	933					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.S933S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCTGGAAGACCGAGTTCCTCC	0.577000													16	89					0	0	0.006122	0	0
ACVR1B	91	broad.mit.edu	37	12	52377803	52377803	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:52377803C>G	ENST00000257963.4	+	5	909	c.832C>G	c.(832-834)Ctg>Gtg	p.L278V	ACVR1B_ENST00000426655.2_Missense_Mutation_p.L278V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.L278V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L226V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.L319V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	278	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.L319V(1)|p.L278V(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTGGACACAGCTGTGGCTTGT	0.463000													4	37					0	0	0.003080	0	0
PRKDC	5591	broad.mit.edu	37	8	48710830	48710830	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr8:48710830G>C	ENST00000314191.2	-	74	10479	c.10423C>G	c.(10423-10425)Cca>Gca	p.P3475A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P3475A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3476	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.P3475A(1)|p.P3476A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTCTCCTCTGGATACCGTTCT	0.363000								Non-homologous end-joining					3	63					0	0	0.004672	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													3	23					0	0	0.004672	0	0
CEP290	80184	broad.mit.edu	37	12	88486598	88486598	+	Silent	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr12:88486598G>T	ENST00000552810.1	-	29	3664	c.3321C>A	c.(3319-3321)atC>atA	p.I1107I	CEP290_ENST00000309041.7_Silent_p.I1109I|CEP290_ENST00000547691.2_Silent_p.I167I|CEP290_ENST00000397838.3_Silent_p.I167I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1107					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I1109I(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATCCAAATTGATTTTGGTAA	0.353000													18	94					1.2644e-06	1.58905e-06	0.010504	1	0
SLC6A9	6536	broad.mit.edu	37	1	44474144	44474144	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:44474144G>A	ENST00000372310.3	-	5	636	c.471C>T	c.(469-471)gcC>gcT	p.A157A	SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000372307.3_Silent_p.A92A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000360584.2_Silent_p.A230A|SLC6A9_ENST00000357730.2_Silent_p.A176A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	230						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607000													21	170					0	0	0.014323	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235319	81235319	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:81235319G>A	ENST00000394685.3	+	28	4152	c.3733G>A	c.(3733-3735)Ggc>Agc	p.G1245S	KIAA1199_ENST00000356249.5_Missense_Mutation_p.G1245S|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G1245S|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1245								p.G1245S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCGGAGGATGGCATCCAGGT	0.582000													98	687					0	0	0.014410	0	0
STAT5A	6776	broad.mit.edu	37	17	40441527	40441527	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:40441527A>T	ENST00000345506.4	+	3	740	c.98A>T	c.(97-99)tAc>tTc	p.Y33F	STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33F|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33F|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33F|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33F	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652000													14	85					0	0	0.004990	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	35					0	0	0.004672	0	0
MRPL10	124995	broad.mit.edu	37	17	45901636	45901636	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:45901636G>A	ENST00000290208.7	-	5	1203	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	MRPL10_ENST00000414011.1_Missense_Mutation_p.R251C|MRPL10_ENST00000351111.2_Missense_Mutation_p.R241C			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	241					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	p.R241C(1)		endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TCCTTCTCGCGTTGCTCTCTG	0.587000													9	115					0	0	0.004482	0	0
RNF38	152006	broad.mit.edu	37	9	36353229	36353229	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:36353229G>C	ENST00000357058.3	-	7	1366	c.760C>G	c.(760-762)Cca>Gca	p.P254A	RNF38_ENST00000377877.4_Missense_Mutation_p.P261A|RNF38_ENST00000377885.2_Missense_Mutation_p.P254A|RNF38_ENST00000353739.4_Missense_Mutation_p.P287A|RNF38_ENST00000350199.4_Missense_Mutation_p.P254A|RNF38_ENST00000259605.6_Missense_Mutation_p.P337A	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	337	Pro-rich.						zinc ion binding	p.P337A(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GGAGCTGATGGAGGTAATGTT	0.438000													3	78					0	0	0.004672	0	0
PITX1	5307	broad.mit.edu	37	5	134364489	134364489	+	Missense_Mutation	SNP	C	C	T	rs140746945		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:134364489C>T	ENST00000265340.7	-	3	1341	c.925G>A	c.(925-927)Gcg>Acg	p.A309T	PITX1_ENST00000506438.1_Missense_Mutation_p.A309T	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	309						nucleolus	sequence-specific DNA binding	p.A309T(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TACTGGCACGCGTTGAGGCCC	0.751000													6	31					0	0	0.001168	0	0
FAM179B	23116	broad.mit.edu	37	14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr14:45433195G>A	ENST00000361462.2	+	1	1754	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H|FAM179B_ENST00000361577.3_Missense_Mutation_p.R524H|KLHL28_ENST00000553817.1_5'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	524							binding	p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463000													5	175					0	0	0.000602	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													5	246					0	0	0.003080	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712646	140712646	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:140712646G>C	ENST00000517417.1	+	1	2395	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E799Q	NM_018912.2	NP_061735.1												p.E799Q(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTTACTTGAAGACAAAAA	0.418000													7	145					0	0	0.001984	0	0
EQTN	54586	broad.mit.edu	37	9	27289707	27289707	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:27289707G>A	ENST00000380032.3	-	6	527	c.444C>T	c.(442-444)gtC>gtT	p.V148V	EQTN_ENST00000537675.1_Silent_p.V119V	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated									p.V148V(1)									TATCATCCATGACCACTGCTG	0.353000													4	24					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62289394	62289394	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr11:62289394G>A	ENST00000378024.4	-	5	12769	c.12495C>T	c.(12493-12495)atC>atT	p.I4165I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4165					nervous system development	nucleus	protein binding	p.I4165I(1)		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)				TGGGGCCCTTGATGTCAACTT	0.512000													42	287					0	0	0.006999	0	0
STOML2	30968	broad.mit.edu	37	9	35102793	35102793	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr9:35102793G>C	ENST00000356493.5	-	2	135	c.73C>G	c.(73-75)Ccg>Gcg	p.P25A	STOML2_ENST00000452248.2_Missense_Mutation_p.P25A	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	25						cytoskeleton	receptor binding	p.P25A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGCGGCGCGGAGCGCGGCCA	0.647000													3	53					0	0	0.009096	0	0
GPR98	84059	broad.mit.edu	37	5	90136558	90136558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:90136558C>G	ENST00000405460.2	+	78	16871	c.16775C>G	c.(16774-16776)cCt>cGt	p.P5592R	GPR98_ENST00000425867.2_Missense_Mutation_p.P1253R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5592					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P5592R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCATTTCCTAAACGCTTC	0.433000													15	146					0	0	0.006122	0	0
GMIP	51291	broad.mit.edu	37	19	19751158	19751158	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr19:19751158C>T	ENST00000203556.4	-	6	513	c.376G>A	c.(376-378)Gct>Act	p.A126T	GMIP_ENST00000445806.2_Missense_Mutation_p.A126T|GMIP_ENST00000587238.1_Missense_Mutation_p.A126T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	126					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.A126T(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGCTCTTAGCAAACTCCAGC	0.607000													31	174					0	0	0.013726	0	0
ACAN	176	broad.mit.edu	37	15	89400783	89400783	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr15:89400783T>A	ENST00000439576.2	+	12	5341	c.4967T>A	c.(4966-4968)tTc>tAc	p.F1656Y	ACAN_ENST00000352105.7_Missense_Mutation_p.F1656Y|ACAN_ENST00000561243.1_Missense_Mutation_p.F1656Y|ACAN_ENST00000559004.1_Missense_Mutation_p.F1656Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1656					cell adhesion		hyaluronic acid binding|sugar binding	p.F1542Y(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCATCTGGATTCCCAACTGTT	0.532000													7	402					0	0	0.003080	0	0
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	RNA	SNP	G	G	A	rs7635172	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395																											CAAACTCGCTGTTGGACCTGG	0.597000													4	72					0	0	0.001168	0	0
DUSP10	11221	broad.mit.edu	37	1	221875902	221875902	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:221875902G>A	ENST00000366899.3	-	4	1539	c.1301C>T	c.(1300-1302)gCt>gTt	p.A434V	DUSP10_ENST00000544095.1_Missense_Mutation_p.A92V|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.A92V	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	434	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A434V(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AAATTTATAAGCATCAGTCAT	0.507000													16	149					0	0	0.004007	0	0
ASL	435	broad.mit.edu	37	7	65546942	65546942	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr7:65546942C>T	ENST00000304874.9	+	3	267	c.165C>T	c.(163-165)ctC>ctT	p.L55L	ASL_ENST00000395332.3_Silent_p.L55L|ASL_ENST00000380839.4_Silent_p.L55L|ASL_ENST00000395331.3_Silent_p.L55L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	55					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.L55L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGGGCTCCTCACCAAGGCCG	0.617000													7	46					0	0	0.003080	0	0
TRIM16	10626	broad.mit.edu	37	17	15535856	15535856	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr17:15535856A>G	ENST00000455584.2	-	4	1025	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.Y198H|TRIM16_ENST00000336708.7_Missense_Mutation_p.Y328H|TRIM16_ENST00000578237.1_Missense_Mutation_p.Y328H|TRIM16_ENST00000577886.1_Missense_Mutation_p.Y112H														p.Y328H(1)									TTTTTCTTATAGTTCTCCAGC	0.468000													31	188					0	0	0.003271	0	0
PLCE1	51196	broad.mit.edu	37	10	95931189	95931189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr10:95931189C>A	ENST00000260766.3	+	4	2379	c.1745C>A	c.(1744-1746)tCg>tAg	p.S582*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S582*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S274*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S274*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	582	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.S582*(1)|p.S274*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTCAGCGTCGATTCTTACC	0.483000													4	139					0.00909568	0.0107076	0.009096	1	0
OR6F1	343169	broad.mit.edu	37	1	247875225	247875225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr1:247875225T>A	ENST00000302084.2	-	1	880	c.833A>T	c.(832-834)aAc>aTc	p.N278I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N278I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACCACAGTGTTCAGGACGTG	0.458000													31	162					0	0	0.012213	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376097	29376097	+	RNA	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr16:29376097A>G	ENST00000398878.3	+	0	1525				SNX29P2_ENST00000507381.1_RNA														p.M128V(2)									CTCTGGGGACATGTTTAAAAA	0.478000													3	113					0	0	0.004672	0	0
G3BP1	10146	broad.mit.edu	37	5	151166212	151166212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:151166212G>T	ENST00000394123.3	+	2	176	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F	G3BP1_ENST00000356245.3_Missense_Mutation_p.V11F|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	11	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.V11F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCCCTGCTGGTCGGGCGGGA	0.488000													24	130					3.08376e-08	3.92863e-08	0.003330	1	0
WRN	7486	broad.mit.edu	37	8	30977835	30977835	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr8:30977835C>T	ENST00000298139.5	+	21	2774	c.2525C>T	c.(2524-2526)cCt>cTt	p.P842L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	842	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.P842L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TACGGTGCTCCTAAGGACATG	0.428000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				14	77					0	0	0.004990	0	0
APOL5	80831	broad.mit.edu	37	22	36122633	36122633	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr22:36122633G>C	ENST00000249044.2	+	3	518	c.518G>C	c.(517-519)gGg>gCg	p.G173A		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	173					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	p.G173A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCAGCAACTGGGACAGGGTTG	0.547000													26	198					0	0	0.005443	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625395	74625395	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:74625395G>T	ENST00000156626.7	-	2	729	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	177					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.S177Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CACCGTCCTGGAGGCCGTCAG	0.592000													13	382					4.93089e-13	6.4913e-13	0.002450	1	0
TAL2	6887	broad.mit.edu	37	9	108424891	108424891	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr9:108424891G>A	ENST00000334077.3	+	1	154	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	38	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										ACAAAAAGCTGAGCAAAAATG	0.527000			T	TRB@	T-ALL								4	79					0	0	0.009096	0	0
BRINP3	339479	broad.mit.edu	37	1	190067976	190067976	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:190067976G>A	ENST00000367462.3	-	8	1704	c.1473C>T	c.(1471-1473)gaC>gaT	p.D491D	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.D389D	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		491						extracellular region		p.D491D(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GATCTTGCAGGTCAGTTTCAA	0.517000													33	316					0	0	0.013726	0	0
BCR	613	broad.mit.edu	37	22	23653923	23653923	+	Silent	SNP	C	C	T	rs144561126	byFrequency	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr22:23653923C>T	ENST00000305877.8	+	19	3973	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C	BCR_ENST00000359540.3_Silent_p.C1030C|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1074	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.C1074C(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCGCCAGTGCGTGGAGGAGA	0.622000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	52					0	0	0.001168	0	0
TECTA	7007	broad.mit.edu	37	11	120996044	120996044	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr11:120996044T>G	ENST00000392793.1	+	8	1508	c.1237T>G	c.(1237-1239)Tta>Gta	p.L413V	TECTA_ENST00000264037.2_Missense_Mutation_p.L413V			O75443	TECTA_HUMAN	tectorin alpha	413	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.L413V(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTGTCACCTTAGACTTGGG	0.498000													42	355					0	0	0.008740	0	0
ABCF3	55324	broad.mit.edu	37	3	183909004	183909004	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr3:183909004C>T	ENST00000429586.2	+	16	1715	c.1530C>T	c.(1528-1530)cgC>cgT	p.R510R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.R504R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	510	ABC transporter 2.		R -> H (in dbSNP:rs9811715).				ATP binding|ATPase activity	p.R510R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTTCAGTCGCCTCTCTGTGT	0.537000													43	253					0	0	0.014410	0	0
C1orf106	55765	broad.mit.edu	37	1	200868613	200868613	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:200868613C>T	ENST00000367342.4	+	3	523	c.323C>T	c.(322-324)cCg>cTg	p.P108L	C1orf106_ENST00000413687.2_Missense_Mutation_p.P23L	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	108								p.P108L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCGACAGCCCGGTCTCCCCA	0.622000													17	99					0	0	0.006122	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													5	53					0	0	0.010729	0	0
ENOX2	10495	broad.mit.edu	37	X	129771261	129771261	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chrX:129771261T>C	ENST00000338144.3	-	12	1757	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	ENOX2_ENST00000394363.1_Missense_Mutation_p.D418G|ENOX2_ENST00000370927.1_Missense_Mutation_p.D447G|ENOX2_ENST00000370935.1_Missense_Mutation_p.D418G	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	447					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.D447G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTGTTAGGGTCATCTTCTCT	0.473000													4	345					0	0	0.000602	0	0
RNF25	64320	broad.mit.edu	37	2	219529102	219529102	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr2:219529102G>C	ENST00000295704.2	-	10	1398	c.958C>G	c.(958-960)Cca>Gca	p.P320A		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	320					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.P320A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGTCCCTGGAATCTTCTCA	0.582000													3	211					0	0	0.004672	0	0
ZNF133	7692	broad.mit.edu	37	20	18295923	18295923	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr20:18295923C>T	ENST00000377671.3	+	7	984	c.425C>T	c.(424-426)gCa>gTa	p.A142V	ZNF133_ENST00000396026.3_Missense_Mutation_p.A146V|ZNF133_ENST00000402618.2_Missense_Mutation_p.A80V|ZNF133_ENST00000538547.1_Missense_Mutation_p.A48V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Missense_Mutation_p.A143V|ZNF133_ENST00000535822.1_Missense_Mutation_p.A48V|ZNF133_ENST00000401790.1_Missense_Mutation_p.A143V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	143						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A142V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGTGATCAAGCAGAAGGTCCT	0.587000													34	259					0	0	0.006230	0	0
GPR4	2828	broad.mit.edu	37	19	46094725	46094725	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr19:46094725C>A	ENST00000323040.4	-	2	1344	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	134						integral to plasma membrane	G-protein coupled receptor activity	p.A134S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGGCCACGGCGGTCTTGACG	0.662000													12	100					1.3612e-06	1.7264e-06	0.003163	1	0
KDM6A	7403	broad.mit.edu	37	X	44938572	44938572	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chrX:44938572C>T	ENST00000377967.4	+	20	3161	c.3120C>T	c.(3118-3120)gcC>gcT	p.A1040A	KDM6A_ENST00000382899.4_Silent_p.A1047A|KDM6A_ENST00000536777.1_Silent_p.A995A|KDM6A_ENST00000543216.1_Silent_p.A961A	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1040					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.A1040A(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTACCAGGCCTCCTCATTCC	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								13	51					0	0	0.002450	0	0
TEK	7010	broad.mit.edu	37	9	27204929	27204929	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr9:27204929G>A	ENST00000380036.4	+	14	2672	c.2230G>A	c.(2230-2232)Ggg>Agg	p.G744R	TEK_ENST00000406359.4_Missense_Mutation_p.G701R|TEK_ENST00000519097.1_Missense_Mutation_p.G597R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	744					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G744R(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCGGAGGGGGGAAGATGCT	0.507000													11	122					0	0	0.002450	0	0
MYO18A	399687	broad.mit.edu	37	17	27448618	27448618	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:27448618G>C	ENST00000527372.1	-	5	1498	c.1318C>G	c.(1318-1320)Ccc>Gcc	p.P440A	MYO18A_ENST00000354329.4_Missense_Mutation_p.P440A|MYO18A_ENST00000531253.1_Missense_Mutation_p.P440A|MYO18A_ENST00000533112.1_Missense_Mutation_p.P440A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	440	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.P440A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCAGGCTGGGGCCAGCATAC	0.637000													3	20					0	0	0.000602	0	0
MST1L	11223	broad.mit.edu	37	1	17084269	17084269	+	RNA	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:17084269G>A	ENST00000455405.2	-	0	539																		p.A583V(1)									ACCCCAGCCTGCAATCTCACA	0.582000													7	700					0	0	0.001984	0	0
EMR2	30817	broad.mit.edu	37	19	14866619	14866619	+	Silent	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr19:14866619C>A	ENST00000315576.3	-	13	1714	c.1263G>T	c.(1261-1263)ctG>ctT	p.L421L	EMR2_ENST00000353005.1_Silent_p.L279L|EMR2_ENST00000595839.1_Silent_p.L279L|EMR2_ENST00000353876.1_Silent_p.L328L|EMR2_ENST00000601345.1_Silent_p.L410L|EMR2_ENST00000392967.2_Silent_p.L410L|EMR2_ENST00000346057.1_Silent_p.L372L|EMR2_ENST00000594294.1_Silent_p.L372L|EMR2_ENST00000392965.3_Silent_p.L421L|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000596991.2_Silent_p.L410L|EMR2_ENST00000594076.1_Silent_p.L328L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	421					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L421L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCTCAGGTTCCAGGACCAGAG	0.592000													11	80					3.07112e-06	3.80234e-06	0.010729	1	0
STAG1	10274	broad.mit.edu	37	3	136342081	136342081	+	Silent	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr3:136342081A>G	ENST00000383202.2	-	3	295	c.39T>C	c.(37-39)acT>acC	p.T13T	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Silent_p.T13T|STAG1_ENST00000480733.1_Silent_p.T13T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	13					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.T13T(1)		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						TAGTTTCATTAGTTGAATCCC	0.403000													3	109					0	0	0.004672	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	70					0	0	0.001168	0	0
C16orf58	64755	broad.mit.edu	37	16	31502241	31502241	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr16:31502241G>A	ENST00000327237.2	-	13	1361	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	C16orf58_ENST00000567994.1_Missense_Mutation_p.A396V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A439V			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	441						integral to membrane		p.A441V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CTTCCAGCCGGCATCCTGCAG	0.602000													4	123					0	0	0.009096	0	0
CXCR3	2833	broad.mit.edu	37	X	70836739	70836739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chrX:70836739C>T	ENST00000373691.4	-	2	887	c.724G>A	c.(724-726)Gac>Aac	p.D242N	CXCR3_ENST00000373693.3_Missense_Mutation_p.D195N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	195					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	p.D195N(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGGCGCTCGTCGTGGTGGGCC	0.687000													5	27					0	0	0.006214	0	0
NLGN1	22871	broad.mit.edu	37	3	173997033	173997033	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr3:173997033T>C	ENST00000457714.1	+	6	1671	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	NLGN1_ENST00000545397.1_Silent_p.A414A|NLGN1_ENST00000361589.4_Silent_p.A414A|NLGN1_ENST00000401917.3_Silent_p.A454A|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	431					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.A414A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGACTTTGCTGTTTCAAATT	0.338000													6	51					0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70938424	70938424	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr12:70938424T>C	ENST00000334414.6	-	22	5451	c.5407A>G	c.(5407-5409)Aca>Gca	p.T1803A	PTPRB_ENST00000451516.2_Missense_Mutation_p.T1495A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T1495A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T1715A|PTPRB_ENST00000261266.5_Missense_Mutation_p.T1585A|PTPRB_ENST00000538708.1_Missense_Mutation_p.T1495A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1585	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1585A(2)|p.T1803A(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGAGCTGTGTAAAAGCTCGA	0.358000													4	29					0	0	0.000602	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056605	26056605	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr6:26056605C>G	ENST00000343677.2	-	1	94	c.52G>C	c.(52-54)Gcc>Ccc	p.A18P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	18			A -> V (in dbSNP:rs2230653).		nucleosome assembly	nucleosome|nucleus	DNA binding	p.A18P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTTACAGGGGCCTTCTCCGCA	0.617000													7	119					0	0	0.003080	0	0
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:66853375C>A	ENST00000341509.5	-	6	805	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_ENST00000537670.1_Missense_Mutation_p.G52V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	225					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G225V(3)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602000													9	111					9.31168e-06	1.13931e-05	0.001855	1	0
PPIB	5479	broad.mit.edu	37	15	64455120	64455120	+	Silent	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:64455120G>C	ENST00000300026.3	-	1	284	c.66C>G	c.(64-66)gtC>gtG	p.V22V	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	22					protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.V22V(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GCAGGAAGAAGACGGACCCCG	0.647000													4	39					0	0	0.000602	0	0
LARP4B	23185	broad.mit.edu	37	10	876909	876909	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr10:876909T>G	ENST00000316157.3	-	8	799	c.759A>C	c.(757-759)gaA>gaC	p.E253D		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	253	RRM.						nucleotide binding|RNA binding	p.E253D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATAGTGCTTCTACTTCCT	0.284000													3	37					0	0	0.004672	0	0
ARSD	414	broad.mit.edu	37	X	2825346	2825346	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chrX:2825346C>T	ENST00000381154.1	-	10	1823	c.1748G>A	c.(1747-1749)tGt>tAt	p.C583Y		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	583						lysosome	arylsulfatase activity|metal ion binding	p.C583Y(1)		large_intestine(3)|lung(3)	6		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)				GTGGCATGAACAGAACGGGAA	0.572000													14	73					0	0	0.004007	0	0
ZNF408	79797	broad.mit.edu	37	11	46726804	46726804	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr11:46726804C>T	ENST00000311764.2	+	5	1784	c.1554C>T	c.(1552-1554)caC>caT	p.H518H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.H518H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCGGCTCCACACCGGGGAGC	0.642000													14	131					0	0	0.003163	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769453	13769453	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr12:13769453C>T	ENST00000279593.3	-	5	1473	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	422					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.V422M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAGGGTCCACACTTTCCACA	0.527000													5	142					0	0	0.001168	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30164791	30164791	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr19:30164791C>T	ENST00000436066.3	+	2	511	c.45C>T	c.(43-45)atC>atT	p.I15I	PLEKHF1_ENST00000592810.1_Silent_p.I15I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	15					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	p.I15I(1)		breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GCCAGCGCATCGCGGCAGTGG	0.662000													16	78					0	0	0.010504	0	0
TTYH2	94015	broad.mit.edu	37	17	72248464	72248464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:72248464T>C	ENST00000441391.2	+	5	1457	c.245T>C	c.(244-246)tTc>tCc	p.F82S	TTYH2_ENST00000269346.4_Missense_Mutation_p.F403S|TTYH2_ENST00000529107.1_Missense_Mutation_p.F382S	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	403						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.F403S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCCCTCGCCTTCTCCACCATG	0.617000													4	97					0	0	0.009096	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499014	31499014	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr16:31499014T>C	ENST00000330498.3	+	7	838	c.819T>C	c.(817-819)gaT>gaC	p.D273D	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	273					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.D273D(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGACCGGGGATCTGCCGTGGC	0.672000													11	54					0	0	0.007413	0	0
KIAA0922	23240	broad.mit.edu	37	4	154555427	154555427	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr4:154555427C>T	ENST00000409663.3	+	33	4461	c.4409C>T	c.(4408-4410)cCa>cTa	p.P1470L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P1471L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1387L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1470						integral to membrane		p.P1471L(1)|p.P1323L(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AATGCCTTTCCAGAAGGTAAG	0.423000													17	139					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179413470	179413470	+	Silent	SNP	T	T	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr2:179413470T>C	ENST00000589042.1	-	339	93107	c.92883A>G	c.(92881-92883)aaA>aaG	p.K30961K	TTN_ENST00000342992.6_Silent_p.K28393K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.K22021K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.K22088K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.K21896K|TTN_ENST00000591111.1_Silent_p.K29320K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29320	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K28393K(1)|p.K22021K(1)|p.K22088K(1)|p.K28391K(1)|p.K21896K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGTCTGGTTTGCTCCACA	0.463000													3	110					0	0	0.009096	0	0
ATG4A	115201	broad.mit.edu	37	X	107381181	107381181	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chrX:107381181G>A	ENST00000372232.3	+	8	854	c.695G>A	c.(694-696)gGc>gAc	p.G232D	ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	232					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	p.G232D(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CTTCGCCTGGGCATAAACCAA	0.522000													6	611					0	0	0.003080	0	0
FSD2	123722	broad.mit.edu	37	15	83451620	83451620	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:83451620T>A	ENST00000334574.8	-	4	1074	c.893A>T	c.(892-894)aAc>aTc	p.N298I	FSD2_ENST00000541889.1_Missense_Mutation_p.N298I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	298								p.N298I(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGTATCTAGGTTTTCTCCACA	0.378000													7	550					0	0	0.001984	0	0
CDKN2D	1032	broad.mit.edu	37	19	10677773	10677773	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr19:10677773G>A	ENST00000393599.2	-	2	786	c.462C>T	c.(460-462)ctC>ctT	p.L154L	CDKN2D_ENST00000335766.2_Silent_p.L154L	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	154					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.L154L(1)		endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGATGTCCACGAGGTCCTGAG	0.607000													17	124					0	0	0.006122	0	0
SHMT1	6470	broad.mit.edu	37	17	18250892	18250892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:18250892C>T	ENST00000316694.3	-	5	571	c.437G>A	c.(436-438)gGg>gAg	p.G146E	SHMT1_ENST00000352886.6_Missense_Mutation_p.G146E|SHMT1_ENST00000354098.3_Missense_Mutation_p.G146E|SHMT1_ENST00000539052.1_Missense_Mutation_p.G8E	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	146					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G146E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGGTGGCCCCCATCCGGAAG	0.537000													53	174					0	0	0.014410	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749775	79749775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:79749775C>A	ENST00000305428.3	+	2	1361	c.1286C>A	c.(1285-1287)gCg>gAg	p.A429E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	429						integral to membrane		p.A429E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATTGCTTATGCGGCAAAACAA	0.473000													21	154					3.28513e-13	4.38017e-13	0.003954	1	0
ATP1A3	478	broad.mit.edu	37	19	42472957	42472957	+	Silent	SNP	C	C	T	rs150417636		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr19:42472957C>T	ENST00000545399.1	-	20	2991	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	ATP1A3_ENST00000602133.1_Silent_p.S903S|ATP1A3_ENST00000302102.5_Silent_p.S933S|ATP1A3_ENST00000543770.1_Silent_p.S944S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	933					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.S933S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCTGGAAGACCGAGTTCCTCC	0.577000													16	89					0	0	0.006122	0	0
ACVR1B	91	broad.mit.edu	37	12	52377803	52377803	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr12:52377803C>G	ENST00000257963.4	+	5	909	c.832C>G	c.(832-834)Ctg>Gtg	p.L278V	ACVR1B_ENST00000541224.1_Missense_Mutation_p.L319V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.L278V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.L278V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L226V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	278	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.L319V(1)|p.L278V(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTGGACACAGCTGTGGCTTGT	0.463000													4	37					0	0	0.003080	0	0
PRKDC	5591	broad.mit.edu	37	8	48710830	48710830	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr8:48710830G>C	ENST00000314191.2	-	74	10479	c.10423C>G	c.(10423-10425)Cca>Gca	p.P3475A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P3475A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3476	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.P3475A(1)|p.P3476A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTCTCCTCTGGATACCGTTCT	0.363000								Non-homologous end-joining					3	63					0	0	0.004672	0	0
CEP290	80184	broad.mit.edu	37	12	88486598	88486598	+	Silent	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr12:88486598G>T	ENST00000552810.1	-	29	3664	c.3321C>A	c.(3319-3321)atC>atA	p.I1107I	CEP290_ENST00000397838.3_Silent_p.I167I|CEP290_ENST00000547691.2_Silent_p.I167I|CEP290_ENST00000309041.7_Silent_p.I1109I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1107					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I1109I(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATCCAAATTGATTTTGGTAA	0.353000													18	94					1.2644e-06	1.62343e-06	0.010504	1	0
SLC6A9	6536	broad.mit.edu	37	1	44474144	44474144	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:44474144G>A	ENST00000372310.3	-	5	636	c.471C>T	c.(469-471)gcC>gcT	p.A157A	SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000357730.2_Silent_p.A176A|SLC6A9_ENST00000372307.3_Silent_p.A92A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000360584.2_Silent_p.A230A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	230						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607000													21	170					0	0	0.014323	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235319	81235319	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:81235319G>A	ENST00000394685.3	+	28	4152	c.3733G>A	c.(3733-3735)Ggc>Agc	p.G1245S	KIAA1199_ENST00000356249.5_Missense_Mutation_p.G1245S|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G1245S|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1245								p.G1245S(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCGGAGGATGGCATCCAGGT	0.582000													98	687					0	0	0.014410	0	0
STAT5A	6776	broad.mit.edu	37	17	40441527	40441527	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:40441527A>T	ENST00000345506.4	+	3	740	c.98A>T	c.(97-99)tAc>tTc	p.Y33F	STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33F|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33F|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33F|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33F	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652000													14	85					0	0	0.004990	0	0
MRPL10	124995	broad.mit.edu	37	17	45901636	45901636	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:45901636G>A	ENST00000290208.7	-	5	1203	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	MRPL10_ENST00000351111.2_Missense_Mutation_p.R241C|MRPL10_ENST00000414011.1_Missense_Mutation_p.R251C			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	241					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	p.R241C(1)		endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TCCTTCTCGCGTTGCTCTCTG	0.587000													9	115					0	0	0.004482	0	0
RNF38	152006	broad.mit.edu	37	9	36353229	36353229	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr9:36353229G>C	ENST00000357058.3	-	7	1366	c.760C>G	c.(760-762)Cca>Gca	p.P254A	RNF38_ENST00000350199.4_Missense_Mutation_p.P254A|RNF38_ENST00000377877.4_Missense_Mutation_p.P261A|RNF38_ENST00000259605.6_Missense_Mutation_p.P337A|RNF38_ENST00000353739.4_Missense_Mutation_p.P287A|RNF38_ENST00000377885.2_Missense_Mutation_p.P254A	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	337	Pro-rich.						zinc ion binding	p.P337A(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GGAGCTGATGGAGGTAATGTT	0.438000													3	78					0	0	0.004672	0	0
PITX1	5307	broad.mit.edu	37	5	134364489	134364489	+	Missense_Mutation	SNP	C	C	T	rs140746945		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:134364489C>T	ENST00000265340.7	-	3	1341	c.925G>A	c.(925-927)Gcg>Acg	p.A309T	PITX1_ENST00000506438.1_Missense_Mutation_p.A309T	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	309						nucleolus	sequence-specific DNA binding	p.A309T(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TACTGGCACGCGTTGAGGCCC	0.751000													6	31					0	0	0.001168	0	0
FAM179B	23116	broad.mit.edu	37	14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr14:45433195G>A	ENST00000361462.2	+	1	1754	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H|FAM179B_ENST00000361577.3_Missense_Mutation_p.R524H			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	524							binding	p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463000													5	175					0	0	0.000602	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712646	140712646	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:140712646G>C	ENST00000517417.1	+	1	2395	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E799Q	NM_018912.2	NP_061735.1												p.E799Q(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTTACTTGAAGACAAAAA	0.418000													7	145					0	0	0.001984	0	0
EQTN	54586	broad.mit.edu	37	9	27289707	27289707	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr9:27289707G>A	ENST00000380032.3	-	6	527	c.444C>T	c.(442-444)gtC>gtT	p.V148V	EQTN_ENST00000537675.1_Silent_p.V119V	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated									p.V148V(1)									TATCATCCATGACCACTGCTG	0.353000													4	24					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62289394	62289394	+	Silent	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr11:62289394G>A	ENST00000378024.4	-	5	12769	c.12495C>T	c.(12493-12495)atC>atT	p.I4165I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4165					nervous system development	nucleus	protein binding	p.I4165I(1)		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)				TGGGGCCCTTGATGTCAACTT	0.512000													42	287					0	0	0.006999	0	0
STOML2	30968	broad.mit.edu	37	9	35102793	35102793	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr9:35102793G>C	ENST00000356493.5	-	2	135	c.73C>G	c.(73-75)Ccg>Gcg	p.P25A	STOML2_ENST00000452248.2_Missense_Mutation_p.P25A	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	25						cytoskeleton	receptor binding	p.P25A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGCGGCGCGGAGCGCGGCCA	0.647000													3	53					0	0	0.009096	0	0
GPR98	84059	broad.mit.edu	37	5	90136558	90136558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:90136558C>G	ENST00000405460.2	+	78	16871	c.16775C>G	c.(16774-16776)cCt>cGt	p.P5592R	GPR98_ENST00000425867.2_Missense_Mutation_p.P1253R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5592					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P5592R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCATTTCCTAAACGCTTC	0.433000													15	146					0	0	0.006122	0	0
GMIP	51291	broad.mit.edu	37	19	19751158	19751158	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr19:19751158C>T	ENST00000203556.4	-	6	513	c.376G>A	c.(376-378)Gct>Act	p.A126T	GMIP_ENST00000445806.2_Missense_Mutation_p.A126T|GMIP_ENST00000587238.1_Missense_Mutation_p.A126T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	126					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.A126T(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGCTCTTAGCAAACTCCAGC	0.607000													31	174					0	0	0.013726	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174709	140174709	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:140174709C>T	ENST00000526136.1	+	1	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.L54L|PCDHA2_ENST00000378132.1_Silent_p.L54L	NM_018905.2	NP_061728.1												p.L54L(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTGGGGCTGGAGCTGGA	0.647000													13	178					0	0	0.013537	0	0
ACAN	176	broad.mit.edu	37	15	89400783	89400783	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:89400783T>A	ENST00000439576.2	+	12	5341	c.4967T>A	c.(4966-4968)tTc>tAc	p.F1656Y	ACAN_ENST00000559004.1_Missense_Mutation_p.F1656Y|ACAN_ENST00000352105.7_Missense_Mutation_p.F1656Y|ACAN_ENST00000561243.1_Missense_Mutation_p.F1656Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1656					cell adhesion		hyaluronic acid binding|sugar binding	p.F1542Y(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCATCTGGATTCCCAACTGTT	0.532000													7	402					0	0	0.003080	0	0
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	RNA	SNP	G	G	A	rs7635172	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395																											CAAACTCGCTGTTGGACCTGG	0.597000													4	72					0	0	0.001168	0	0
DUSP10	11221	broad.mit.edu	37	1	221875902	221875902	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:221875902G>A	ENST00000366899.3	-	4	1539	c.1301C>T	c.(1300-1302)gCt>gTt	p.A434V	DUSP10_ENST00000323825.3_Missense_Mutation_p.A92V|DUSP10_ENST00000544095.1_Missense_Mutation_p.A92V|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	434	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A434V(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AAATTTATAAGCATCAGTCAT	0.507000													16	149					0	0	0.004007	0	0
ASL	435	broad.mit.edu	37	7	65546942	65546942	+	Silent	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr7:65546942C>T	ENST00000304874.9	+	3	267	c.165C>T	c.(163-165)ctC>ctT	p.L55L	ASL_ENST00000380839.4_Silent_p.L55L|ASL_ENST00000395331.3_Silent_p.L55L|ASL_ENST00000395332.3_Silent_p.L55L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	55					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.L55L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGGGCTCCTCACCAAGGCCG	0.617000													7	46					0	0	0.003080	0	0
TRIM16	10626	broad.mit.edu	37	17	15535856	15535856	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:15535856A>G	ENST00000455584.2	-	4	1025	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	TRIM16_ENST00000336708.7_Missense_Mutation_p.Y328H|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.Y198H|TRIM16_ENST00000577886.1_Missense_Mutation_p.Y112H|TRIM16_ENST00000578237.1_Missense_Mutation_p.Y328H														p.Y328H(1)									TTTTTCTTATAGTTCTCCAGC	0.468000													31	188					0	0	0.003271	0	0
PLCE1	51196	broad.mit.edu	37	10	95931189	95931189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr10:95931189C>A	ENST00000260766.3	+	4	2379	c.1745C>A	c.(1744-1746)tCg>tAg	p.S582*	PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S274*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S274*|PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S582*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	582	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.S582*(1)|p.S274*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTCAGCGTCGATTCTTACC	0.483000													4	139					0.00909568	0.010873	0.009096	1	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	rs11650484	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657000													3	52					0	0	0.006214	0	0
OR6F1	343169	broad.mit.edu	37	1	247875225	247875225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:247875225T>A	ENST00000302084.2	-	1	880	c.833A>T	c.(832-834)aAc>aTc	p.N278I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N278I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACCACAGTGTTCAGGACGTG	0.458000													31	162					0	0	0.012213	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376097	29376097	+	RNA	SNP	A	A	G			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr16:29376097A>G	ENST00000398878.3	+	0	1525				SNX29P2_ENST00000507381.1_RNA														p.M128V(2)									CTCTGGGGACATGTTTAAAAA	0.478000													3	113					0	0	0.004672	0	0
G3BP1	10146	broad.mit.edu	37	5	151166212	151166212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:151166212G>T	ENST00000394123.3	+	2	176	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F	G3BP1_ENST00000356245.3_Missense_Mutation_p.V11F|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	11	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.V11F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCCCTGCTGGTCGGGCGGGA	0.488000													24	130					3.08376e-08	4.00889e-08	0.003330	1	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													3	77					0	0	0.003080	0	0
WRN	7486	broad.mit.edu	37	8	30977835	30977835	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr8:30977835C>T	ENST00000298139.5	+	21	2774	c.2525C>T	c.(2524-2526)cCt>cTt	p.P842L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	842	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.P842L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TACGGTGCTCCTAAGGACATG	0.428000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				14	77					0	0	0.004990	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905682	139905683	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr5:139905682_139905683delAG	ENST00000297183.6	+	26	4718_4719	c.4594_4595delAG	c.(4594-4596)gfs	p.R1532fs	ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.R1532fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.R1532fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAAAAAAGGGCCAATGTG	0.421													24	166	---	---	---	---					
FAM46A	55603	broad.mit.edu	37	6	82461884	82461884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr6:82461884delC	ENST00000369754.3	-	2	344	c.32delG	c.(31-33)gcfs	p.G11fs	FAM46A_ENST00000320172.6_5'UTR|FAM46A_ENST00000369756.3_Frame_Shift_Del_p.G73fs			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	0										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CGCCACTTGGCCCTGGTCAGT	0.672													2	4	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	145	---	---	---	---					
DCT	1638	broad.mit.edu	37	13	95121039	95121040	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr13:95121039_95121040insA	ENST00000377028.5	-	2	968_969	c.555_556insT	c.(553-558)tttgtgfs	p.V186fs	DCT_ENST00000446125.1_Frame_Shift_Ins_p.V186fs	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	186					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGGAGCCACACAAAAAAATCAT	0.450													35	200	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	2040f069-44ef-43cf-8ad0-51a6fd583ab6	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	3	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													3	4	---	---	---	---					
ANKHD1	54882	broad.mit.edu	37	5	139905682	139905683	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr5:139905682_139905683delAG	ENST00000297183.6	+	26	4718_4719	c.4594_4595delAG	c.(4594-4596)gfs	p.R1532fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.R1532fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.R1532fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAAAAAAGGGCCAATGTG	0.421													24	166	---	---	---	---					
FAM46A	55603	broad.mit.edu	37	6	82461884	82461884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr6:82461884delC	ENST00000369754.3	-	2	344	c.32delG	c.(31-33)gcfs	p.G11fs	FAM46A_ENST00000320172.6_5'UTR|FAM46A_ENST00000369756.3_Frame_Shift_Del_p.G73fs			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	0										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CGCCACTTGGCCCTGGTCAGT	0.672													2	4	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284885	38284886	+	RNA	INS	-	-	GGGT	rs138091320	by1000genomes	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr7:38284885_38284886insGGGT	ENST00000436911.2	-	0	330																											TATTTGTCAAGgtgtgtgtgtg	0.391													31	104	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	145	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													12	86	---	---	---	---					
DCT	1638	broad.mit.edu	37	13	95121039	95121040	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr13:95121039_95121040insA	ENST00000377028.5	-	2	968_969	c.555_556insT	c.(553-558)tttgtgfs	p.V186fs	DCT_ENST00000446125.1_Frame_Shift_Ins_p.V186fs	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	186					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGGAGCCACACAAAAAAATCAT	0.450													35	200	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													22	82	---	---	---	---					
LOC145837	145837	broad.mit.edu	37	15	69788948	69788951	+	RNA	DEL	TTCC	TTCC	-	rs34449922		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:69788948_69788951delTTCC	ENST00000560882.1	+	0	278																											tcccttccctttccttccttcctt	0.328													11	7	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													16	27	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs71657822		TCGA-44-2661-01A-01D-1105-08	TCGA-44-2661-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3a2e7c-9aa0-495e-95c7-87f661b9ed92	53c6f356-eb53-47c5-8019-2f961c946ed6	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000564831.1	+	2	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)del	p.GTASGGEEA355del	APOBR_ENST00000431282.1_Splice_Site_p.346_splice|APOBR_ENST00000328423.5_Splice_Site_p.346_splice	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													8	37	---	---	---	---					
