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
TMCC1	23023	broad.mit.edu	37	3	129547175	129547175	+	Missense_Mutation	SNP	C	C	G	rs114855835	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:129547175C>G	ENST00000393238.3	-	3	387	c.47G>C	c.(46-48)gGa>gCa	p.G16A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	16						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGATTTGCCTCCAGGATCAGG	0.403000													7	65					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080440	194080440	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:194080440A>G	ENST00000347624.3	-	2	1418	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	445	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCCGTCCCTAACCTAGGCTGG	0.552000													4	38					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874127	47874127	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:47874127G>A	ENST00000259021.4	+	3	459	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	KAT7_ENST00000424009.2_Missense_Mutation_p.R60Q|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R60Q|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_5'UTR	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	60					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										AGTCCTGTTCGAAATCTGCAG	0.408000													15	146					0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3214548	3214548	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:3214548C>T	ENST00000231948.4	-	4	461	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CRBN_ENST00000432408.2_Missense_Mutation_p.E146K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	147	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		AAATCCTGTTCTTCTCGATAG	0.363000													8	53					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55349324	55349324	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:55349324C>G	ENST00000371269.3	-	2	452	c.354G>C	c.(352-354)ctG>ctC	p.L118L	DHCR24_ENST00000535035.1_Silent_p.L77L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	118	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GAATGTCCATCAGGTTGATCA	0.537000													26	211					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612000													32	137					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	61						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488000													22	189					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303881	117303881	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117303881C>T	ENST00000321322.6	-	29	5180	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1457K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1667					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTTGTCCTCGATGAGCAGC	0.562000													5	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632801	179632801	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179632801G>A	ENST00000589042.1	-	39	9469	c.9245C>T	c.(9244-9246)tCt>tTt	p.S3082F	TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F|TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN_ENST00000591111.1_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2819	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGGTTCAGAAACTTCACA	0.408000													7	51					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332275	46332275	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:46332275G>A	ENST00000245934.7	-	14	2182	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	646					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACAGGCGGATGAGGCAGTCCT	0.652000													13	86					0	0	1	0	0
P2RY10	0	broad.mit.edu	37	X	78216918	78216918	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:78216918G>A	ENST00000171757.2	+	4	1181	c.901G>A	c.(901-903)Gat>Aat	p.D301N	P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	301						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D301N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTGCCTTTTGGATCCAATTCT	0.493000													17	161					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600123	141600123	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:141600123G>A	ENST00000442267.2	-	5	898	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	275						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTTTTAGGAGATTTCCTTTT	0.403000													13	118					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91779552	91779552	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:91779552G>C	ENST00000370425.3	-	29	3304	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S301C|HFM1_ENST00000370424.3_Missense_Mutation_p.S748C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1069	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGATCTTCAGATTTAAGAGC	0.274000													5	67					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115119	15115119	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:15115119T>C	ENST00000378217.3	+	9	1035	c.848T>C	c.(847-849)aTt>aCt	p.I283T	OLAH_ENST00000378228.3_Missense_Mutation_p.I230T|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	230					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AATGCTAAAATTTACCAGCTT	0.368000													4	35					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129900912	129900912	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:129900912C>G	ENST00000368654.3	-	13	9567	c.9192G>C	c.(9190-9192)gaG>gaC	p.E3064D	MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3064					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTGTTCAGCTCTTCCGCAG	0.448000													10	92					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834847	178834847	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:178834847C>G	ENST00000234816.2	-	3	512	c.65G>C	c.(64-66)aGa>aCa	p.R22T	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	22						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTGTCCACCTCTGCAATGTCC	0.383000													5	77					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224543	44224543	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44224543C>A	ENST00000393812.3	-	2	227	c.84G>T	c.(82-84)ccG>ccT	p.P28P	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.P28P	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	28					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCATGACTCCGGAGGGGCTT	0.577000													18	109					6.94344e-10	7.55099e-10	1	1	0
TGM4	7047	broad.mit.edu	37	3	44952512	44952512	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:44952512G>C	ENST00000296125.4	+	12	1737	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	557					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TATATTAGATGATGAGCCAGT	0.463000													6	31					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73588769	73588769	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:73588769G>A	ENST00000265753.8	+	1	195	c.56G>A	c.(55-57)aGa>aAa	p.R19K	EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	19					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGCGGCGGCAGAGGGTGAGGC	0.746000													5	22					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062596	170062596	+	Missense_Mutation	SNP	G	G	A	rs142613860		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170062596G>A	ENST00000263816.3	-	40	7778	c.7493C>T	c.(7492-7494)tCt>tTt	p.S2498F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2498					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGCGGTTAGACCCATCTTC	0.438000													19	99					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87465580	87465580	+	Missense_Mutation	SNP	C	C	T	rs146277655		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:87465580C>T	ENST00000341119.5	-	12	1347	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	334					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTGCTGCCTTCGAACATTTTG	0.368000													3	30					0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228288913	228288913	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:228288913G>C	ENST00000272139.4	-	8	945	c.711C>G	c.(709-711)tgC>tgG	p.C237W	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	237										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				TCCTCTTACAGCAGGGGGAGT	0.642000													6	59					0	0	1	0	0
RP11-262H14.1	0	broad.mit.edu	37	9	66458041	66458041	+	RNA	SNP	G	G	A	rs12352308	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:66458041G>A	ENST00000424345.1	+	0	67																											GAGGTCCTGGGCTTCGGCTGG	0.697000													3	18					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008973	186008973	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:186008973G>C	ENST00000271588.4	+	39	6371	c.6142G>C	c.(6142-6144)Gat>Cat	p.D2048H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2048	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGTTGAAAGATGGGAGTCC	0.433000													16	76					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102792941	102792941	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:102792941C>G	ENST00000410023.1	+	12	1750	c.1432C>G	c.(1432-1434)Ctt>Gtt	p.L478V	IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	478	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTATAATGCTCTTGTTCAGGA	0.388000													5	45					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690526	96690526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:96690526G>A	ENST00000434632.1	-	15	1882	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	475					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCTACCTTCTGATGCTTGAAG	0.652000													22	265					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6153567	6153567	+	Missense_Mutation	SNP	C	C	T	rs146892641		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6153567C>T	ENST00000261405.5	-	18	2586	c.2332G>A	c.(2332-2334)Gct>Act	p.A778T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	778	Amino-terminal.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGTTGTCAGCGGGACACACC	0.562000													16	30					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393136	50393136	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:50393136G>A	ENST00000595948.1	-	10	2181	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C|IL4I1_ENST00000391826.2_Missense_Mutation_p.R499C	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	499						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGGCGGCGCGCAGCGCCGAC	0.667000													10	30					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3656427	3656427	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:3656427C>T	ENST00000335312.3	-	6	685	c.597G>A	c.(595-597)caG>caA	p.Q199Q	PIP5K1C_ENST00000589578.1_Silent_p.Q199Q|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.Q199Q|PIP5K1C_ENST00000537021.1_Silent_p.Q199Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	199	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGCAGCTTCTGCAGGAACT	0.642000													11	58					0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99722494	99722494	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722494G>A	ENST00000262932.3	+	6	862	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	244						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAAACTTGACCGAGAAGA	0.557000													11	158					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36896496	36896496	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36896496C>T	ENST00000392161.3	-	4	457	c.215G>A	c.(214-216)aGa>aAa	p.R72K	ZFP82_ENST00000392171.1_Intron	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATTGTCTTCTTCCTTTCCT	0.438000													7	38					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231935886	231935886	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:231935886G>A	ENST00000439617.2	+	8	1775	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Silent_p.L574L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Silent_p.L574L|DISC1_ENST00000366636.4_Silent_p.L574L|DISC1_ENST00000535983.1_Silent_p.L574L|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000537876.1_Intron	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	574	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGCACCCTGAGGAAGAAAG	0.448000													4	51					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69103983	69103983	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:69103983C>T	ENST00000288368.4	+	36	4650	c.4373C>T	c.(4372-4374)tCa>tTa	p.S1458L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1458					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGTCAAATTCACCACCAAAC	0.303000													7	23					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4050669	4050669	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:4050669C>G	ENST00000404826.2	+	15	2342	c.2203C>G	c.(2203-2205)Ccg>Gcg	p.P735A	SDK1_ENST00000389531.3_Missense_Mutation_p.P735A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	735	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGCCTGACTCCGGCTCGTAC	0.572000													4	45					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1036411	1036411	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:1036411C>T	ENST00000358495.3	-	6	505	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RAD52_ENST00000539046.1_Missense_Mutation_p.D46N|RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000430095.2_Missense_Mutation_p.D123N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	123					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TAACCAACATCTTCATGATAT	0.537000								Homologous recombination					15	238					0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413814	57413814	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:57413814C>T	ENST00000524669.1	-	4	2972	c.250G>A	c.(250-252)Gac>Aac	p.D84N	YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	84						nucleolus				lung(2)|skin(1)	3						CAGAAAATGTCAGCTACCGAG	0.567000													6	75					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94294450	94294450	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:94294450C>T	ENST00000265986.6	-	3	432	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	126					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGCTGTATTCATTTTCTTTA	0.368000													5	38					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370146	101370146	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:101370146G>C	ENST00000312938.4	-	11	3606	c.3026C>G	c.(3025-3027)tCt>tGt	p.S1009C		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAAGTGTAGATACCGATGG	0.418000													7	85					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682819	122682819	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122682819G>C	ENST00000337677.5	-	5	644	c.86C>G	c.(85-87)tCt>tGt	p.S29C	TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C|TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	29						extracellular region				breast(1)|lung(5)	6						AATCGCACCAGATGGCATCAG	0.423000													9	32					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:121652283G>C	ENST00000393386.2	+	12	3594	c.3183G>C	c.(3181-3183)gaG>gaC	p.E1061D	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348000													10	83					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153217411	153217411	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153217411G>A	ENST00000310441.7	-	20	6107	c.5141C>T	c.(5140-5142)aCt>aTt	p.T1714I	HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1714					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGCCTCAGTGGGGAGGTG	0.652000													6	16					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131006169	131006169	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:131006169G>C	ENST00000307968.7	-	14	3010	c.3011C>G	c.(3010-3012)tCt>tGt	p.S1004C	FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|FNIP1_ENST00000510461.1_Missense_Mutation_p.S1032C|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CACAGCATGAGATAAATCTGA	0.418000													17	89					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815774	56815774	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56815774C>G	ENST00000229201.4	-	21	2702	c.2548G>C	c.(2548-2550)Gcc>Ccc	p.A850P	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A851P	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	851					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCAGGTGGGCCAAGATGGCT	0.537000													5	130					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:50936947C>G	ENST00000442544.2	+	20	3677	c.3061C>G	c.(3061-3063)Cga>Gga	p.R1021G	DCC_ENST00000581580.1_Missense_Mutation_p.R656G|DCC_ENST00000412726.1_Missense_Mutation_p.R849G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000													8	58					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374588	180374588	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:180374588C>T	ENST00000231229.4	+	4	984	c.750C>T	c.(748-750)ggC>ggT	p.G250G	BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000533815.2_Silent_p.G66G|BTNL8_ENST00000340184.4_Silent_p.G250G|BTNL8_ENST00000511704.1_Silent_p.G134G	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTTTGGCATTGTTGGAC	0.463000													29	223					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12401942	12401942	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:12401942G>C	ENST00000358136.3	+	41	8862	c.8732_splice	c.e41+1	p.R2911_splice	VPS13D_ENST00000356315.4_Splice_Site_p.R2886_splice	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2910					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACACCCACCAGGTAAGCAGTC	0.577000													11	88					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42996873	42996873	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:42996873G>C	ENST00000244496.5	+	7	697	c.687G>C	c.(685-687)ctG>ctC	p.L229L		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	229					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCAAGGAGCTGAAACGCAGCA	0.468000													23	256					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46293965	46293965	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:46293965C>T	ENST00000359930.4	-	14	2826	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000484875.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	659					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGTCACATTCTTCTGGCCGC	0.507000													47	154					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148584	203148584	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203148584C>T	ENST00000255409.3	-	10	1266	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	381					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TACGTTGCAGCGAGTGCATCC	0.647000													10	123					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400500	78400500	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:78400500G>T	ENST00000397909.2	+	8	1355	c.1182G>T	c.(1180-1182)cgG>cgT	p.R394R	NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	394						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAATGCCCGGACTGCTTTAC	0.498000										HNSCC(70;0.22)			10	110					7.48243e-07	7.95808e-07	1	1	0
TNXB	7148	broad.mit.edu	37	6	32063827	32063827	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32063827C>A	ENST00000375244.3	-	3	2004	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	TNXB_ENST00000479795.1_Missense_Mutation_p.Q601H|TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H			P22105	TENX_HUMAN	tenascin XB	601	EGF-like 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACACCGTCCTGGCACACGC	0.647000													8	55					5.18039e-06	5.43005e-06	1	1	0
DBNDD2	55861	broad.mit.edu	37	20	44037201	44037201	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:44037201G>C	ENST00000372712.2	+	2	675	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372720.3_Missense_Mutation_p.E130Q			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	130					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCAGAGACAGAGTTTGTCTT	0.567000													9	87					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354353	118354353	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:118354353G>A	ENST00000528052.1	+	5	513	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	148					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.A148S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGCCCAGGTGGCCCAGATGCT	0.602000													8	26					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128741618	128741618	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:128741618G>C	ENST00000296464.3	+	14	2121	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	570					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTAAATCAGACACTTAAAA	0.338000													6	21					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072608	133072608	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:133072608C>T	ENST00000326499.6	-	5	1000	c.876G>A	c.(874-876)atG>atA	p.M292I	VNN2_ENST00000525270.1_Missense_Mutation_p.M239I|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	292	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACTCTGTCTTCATGTCATAAT	0.428000													14	69					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904942	33904942	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:33904942C>T	ENST00000225873.4	-	1	706	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	33					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGCGGGTCTCACTGCTGTCA	0.463000													11	83					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:125396503G>A	ENST00000536769.1	-	1	3391	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 8.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537000													5	169					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250697	122250697	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122250697G>C	ENST00000394427.2	-	6	1479	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	356						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGGAGAGAAGGTTTTAT	0.373000													8	69					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20114033	20114033	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:20114033G>A	ENST00000345530.3	-	27	3275	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1054										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTCAGGTGAAGAGCTAAG	0.398000													8	61					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695097	40695097	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:40695097C>T	ENST00000225927.2	+	6	1174	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	358			P -> L (in MPS3B).			lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGCACCAGCCGCAGTTCTGG	0.617000													19	165					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77859228	77859228	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:77859228C>T	ENST00000302536.2	+	3	602	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	150							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TACAAGATCCCGGATGACATG	0.522000													14	28					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604698	31604698	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:31604698C>G	ENST00000376033.2	+	28	6357	c.6123C>G	c.(6121-6123)ttC>ttG	p.F2041L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2041	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGGCCCTTCCCCGCTAGCT	0.632000													12	128					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99661659	99661659	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99661659G>A	ENST00000292450.4	+	4	1005	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	281					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TATATGTGCTGAATGTGGCAA	0.453000													6	70					0	0	1	0	0
LSMEM1	286006	broad.mit.edu	37	7	112129968	112129968	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:112129968C>T	ENST00000312849.4	+	4	721	c.360C>T	c.(358-360)ctC>ctT	p.L120L	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.L120L	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		TAAAGCGACTCAACCAACTCA	0.388000													5	169					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642692	85642692	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:85642692G>C	ENST00000322366.6	-	46	7831	c.7424C>G	c.(7423-7425)tCt>tGt	p.S2475C	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2492C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2492						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCAGGTGCAGATCGGGAGCG	0.498000													10	58					0	0	1	0	0
FAM21A	387680	broad.mit.edu	37	10	51892695	51892695	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:51892695G>A	ENST00000351071.6	+	30	4071	c.3953G>A	c.(3952-3954)gGa>gAa	p.G1318E	FAM21A_ENST00000399339.2_Missense_Mutation_p.G1251E|FAM21A_ENST00000282633.5_Missense_Mutation_p.G1339E|FAM21A_ENST00000314664.7_Missense_Mutation_p.G1277E			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1339					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AATGCCTTTGGAGGCCAGTAG	0.453000													12	47					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153595790	153595790	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153595790C>T	ENST00000422373.1	-	5	1091	c.843G>A	c.(841-843)ccG>ccA	p.P281P	FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000369850.3_Silent_p.P281P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	281					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.P281P(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCTTTCTTCGGGTTCAGTT	0.622000													11	88					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831655	47831655	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831655G>A	ENST00000359568.5	+	28	5775	c.5668G>A	c.(5668-5670)Gag>Aag	p.E1890K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1890					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCACTCTGCCGAGCTGGAGGC	0.672000													9	35					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44030378	44030378	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44030378C>G	ENST00000600651.1	-	3	373	c.350G>C	c.(349-351)gGa>gCa	p.G117A	ETHE1_ENST00000292147.2_Missense_Mutation_p.G117A|ZNF575_ENST00000458714.2_5'UTR			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	117						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GATGGAGTCTCCATCCTCAAT	0.612000													4	104					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909026	123909026	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:123909026C>T	ENST00000330487.5	-	1	691	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCTGAGGTGCGGATCCGCAG	0.537000													36	85					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845718	176845718	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176845718T>G	ENST00000367654.2	-	21	3455	c.3442A>C	c.(3442-3444)Atc>Ctc	p.I1148L	ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L			O14525	ASTN1_HUMAN	astrotactin 1	1148					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTTCACGATCACGTCGCTT	0.582000													7	62					0	0	1	0	0
CIDECP	0	broad.mit.edu	37	3	10059465	10059465	+	RNA	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:10059465C>G	ENST00000432401.1	-	0	505																											CCTCCTCACTCAGGGTCCTGT	0.632000													3	20					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831205	47831205	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831205G>C	ENST00000359568.5	+	28	5325	c.5218G>C	c.(5218-5220)Gaa>Caa	p.E1740Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1740					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGGAAATTGAACAACTCCA	0.468000													14	95					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869526	52869526	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52869526G>C	ENST00000601151.1	+	5	1218	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000403906.3_Missense_Mutation_p.E299Q	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGCTTTTAGAGAGTGTTCGGG	0.398000													7	30					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32677668	32677668	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:32677668G>A	ENST00000374980.2	-	9	1091	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	290						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTCTGCAGGATTGTGTCCG	0.473000													4	81					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589956	11589956	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:11589956C>G	ENST00000294484.6	+	15	3180	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V	PTCHD2_ENST00000389575.3_Silent_p.V1014V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1014					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTTTGTGGTCTTCGGCATTA	0.647000													10	85					0	0	1	0	0
IGKV1-33	0	broad.mit.edu	37	2	89568211	89568211	+	RNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:89568211G>C	ENST00000473726.1	-	0	52																											CCCAGGAGCTGAGCAGGGACC	0.557000													7	61					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6502605	6502605	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502605C>G	ENST00000361413.3	-	14	2482	c.2124G>C	c.(2122-2124)ttG>ttC	p.L708F	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L409F|KIAA0753_ENST00000589033.1_Missense_Mutation_p.L164F|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L409F	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	708						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGCCATCTTTCAAATGAATAT	0.363000													5	34					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144372	44144372	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44144372G>C	ENST00000542245.1	+	10	1094	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	CAPN11_ENST00000398776.1_Missense_Mutation_p.K352N			Q9UMQ6	CAN11_HUMAN	calpain 11	352	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCACAAGACGGAGGACG	0.627000													11	68					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566438	56566438	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56566438C>T	ENST00000394023.3	-	19	1899	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	SMARCC2_ENST00000347471.4_Silent_p.E598E|SMARCC2_ENST00000267064.4_Silent_p.E567E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.E598E	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	567	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGTTGGTTTCTCTTTGCCTT	0.498000													13	131					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159830471	159830471	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:159830471C>T	ENST00000297151.4	-	16	1969	c.1581_splice	c.e16-1	p.A528_splice		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	528					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTTCAGTGCCTATAGTGAG	0.458000													58	72					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12280035	12280035	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:12280035C>T	ENST00000256194.4	+	25	3451	c.3163C>T	c.(3163-3165)Cac>Tac	p.H1055Y	MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1055	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGCAAGCCTCACTTCATTCA	0.418000													4	84					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84601021	84601021	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:84601021G>A	ENST00000262753.4	-	6	713	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	190							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATAATGTGATGATGGCATTGA	0.438000													5	47					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1152961	1152961	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:1152961G>C	ENST00000360001.6	-	7	1282	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	340	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGCTGTACTTGAGCACCTCCT	0.662000													9	60					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								51	72					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146598	37146598	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:37146598C>T	ENST00000262879.6	+	9	1656	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y|RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	458					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGCATTTGTTCACTGTAAACT	0.388000													9	70					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45665636	45665636	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45665636C>G	ENST00000267430.5	+	21	5687	c.5602C>G	c.(5602-5604)Caa>Gaa	p.Q1868E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1868	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGGAGGTCTCAATCTGAGAT	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	66					0	0	1	0	0
CNR1	0	broad.mit.edu	37	6	88854953	88854953	+	Missense_Mutation	SNP	C	C	A	rs142010122		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88854953C>A	ENST00000537554.1	-	2	3603	c.41G>T	c.(40-42)cGc>cTc	p.R14L	CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S|CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	14					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTGATGGTGCGGAAGGTGGT	0.483000													11	118					3.07112e-06	3.2269e-06	1	1	0
MACF1	23499	broad.mit.edu	37	1	39919466	39919466	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:39919466G>A	ENST00000564288.1	+	88	21607	c.20830G>A	c.(20830-20832)Gat>Aat	p.D6944N	MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N|MACF1_ENST00000372915.3_Missense_Mutation_p.D6843N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6843					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCCACCCCGATTGCATCAC	0.498000													93	194					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910184	139910184	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139910184C>G	ENST00000265662.5	-	23	3604	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R|ABCA2_ENST00000371605.3_Missense_Mutation_p.G1152R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1152	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTCCACGCCCGCCGTGGGC	0.692000													5	33					0	0	1	0	0
KCTD1	284252	broad.mit.edu	37	18	24081165	24081165	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:24081165G>C	ENST00000417602.1	-	2	1858	c.1859C>G	c.(1858-1860)tCt>tGt	p.S620C	KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C|KCTD1_ENST00000408011.3_Missense_Mutation_p.S12C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTTCAGTGGAGATGCAGGGGA	0.478000													6	114					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36060202	36060202	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:36060202G>C	ENST00000373235.3	+	7	1462	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGCTGGACAAGATGTTTCTAA	0.542000													16	128					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115608914	115608914	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:115608914C>G	ENST00000361384.2	-	2	2867	c.1950G>C	c.(1948-1950)caG>caC	p.Q650H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	650					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGATCTCTTCTGACACGCTC	0.413000								Other identified genes with known or suspected DNA repair function					20	124					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65483502	65483502	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:65483502C>T	ENST00000519389.1	+	20	3557	c.3378C>T	c.(3376-3378)ctC>ctT	p.L1126L	HEPH_ENST00000441993.2_Silent_p.L1075L|HEPH_ENST00000343002.2_Silent_p.L1072L|HEPH_ENST00000336279.5_Silent_p.L805L|HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000374727.3_Silent_p.L1075L			Q9BQS7	HEPH_HUMAN	hephaestin	1072					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAAGCCCTCTCACCGTCATCA	0.443000													6	62					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44876090	44876090	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44876090C>T	ENST00000261866.7	-	30	5804	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1930					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCATGGATCTCTGGGTGCAGA	0.498000													27	70					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111886103	111886103	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111886103C>A	ENST00000341259.2	+	8	2082	c.1725C>A	c.(1723-1725)ctC>ctA	p.L575L	SH2B3_ENST00000538307.1_Silent_p.L373L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	575					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						ACACACCTCTCTGACCAGTGA	0.532000													4	30					0.150653	0.151001	1	1	0
GNAI3	2773	broad.mit.edu	37	1	110121874	110121874	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:110121874G>A	ENST00000369851.4	+	4	462	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	118					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TGAAGAAGGAGTCATGACTCC	0.443000													8	87					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27066540	27066540	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:27066540C>T	ENST00000261191.7	-	14	2191	c.1655G>A	c.(1654-1656)aGa>aAa	p.R552K	ASUN_ENST00000539625.1_Missense_Mutation_p.R451K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	552					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCCAAGACTCTTTGATGTTT	0.433000													18	251					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35640260	35640260	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35640260G>C	ENST00000353139.5	-	5	999	c.518C>G	c.(517-519)tCt>tGt	p.S173C	ACACA_ENST00000394406.2_Missense_Mutation_p.S136C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C|ACACA_ENST00000335166.5_Missense_Mutation_p.S58C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	136	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTACGGATAGACCGCATGCA	0.438000													7	57					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796753	1796753	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1796753G>C	ENST00000539485.1	-	16	1943	c.1710C>G	c.(1708-1710)atC>atG	p.I570M	ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M|ATP8B3_ENST00000310127.6_Missense_Mutation_p.I570M			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	570					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTGGCAGATGGCCAGCA	0.716000													7	32					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18534978	18534978	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:18534978C>G	ENST00000336714.3	+	18	2524	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V|SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	698					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAGAAATTCTGCAAGCACG	0.512000													4	97					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44740795C>T	ENST00000313040.7	+	6	2417	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498000													5	96					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2755234	2755234	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:2755234G>C	ENST00000397835.4	+	3	425	c.425G>C	c.(424-426)gGa>gCa	p.G142A	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	0						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCCGGCCCCGGAGGCTCGGGC	0.701000													7	63					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23561449	23561449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:23561449G>C	ENST00000297071.4	-	2	263	c.47C>G	c.(46-48)tCt>tGt	p.S16C	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	16					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTTTGACTGAGAGCGAGACTC	0.418000													4	50					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484527	24484527	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24484527C>G	ENST00000355123.4	-	21	2883	c.2440G>C	c.(2440-2442)Gaa>Caa	p.E814Q	ITSN2_ENST00000406921.3_Missense_Mutation_p.E814Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E787Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	814	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATTTTTTCTACATAATTG	0.378000													6	37					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19956199	19956199	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:19956199G>A	ENST00000255006.6	+	8	1826	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	510					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCATGACCCCGGAGAAGCGGA	0.572000													16	136					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662588	227662588	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:227662588G>C	ENST00000305123.4	-	1	1887	c.867C>G	c.(865-867)ctC>ctG	p.L289L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	289	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGATTGTTGAGATGGTGCC	0.672000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	108					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969145	72969145	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:72969145G>C	ENST00000261180.4	+	11	2203	c.2107G>C	c.(2107-2109)Gat>Cat	p.D703H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	703					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTATTAATTGATCAATTAAT	0.343000													10	46					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633450	70633450	+	Missense_Mutation	SNP	C	C	T	rs76086886	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:70633450C>T	ENST00000381269.2	-	2	2443	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	SLC8A3_ENST00000357887.3_Missense_Mutation_p.V564I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V564I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	564	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTAAAGGGGACGATGACTGTA	0.468000													9	49					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571714	44571714	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44571714G>C	ENST00000289547.4	-	9	2567	c.2512C>G	c.(2512-2514)Ccc>Gcc	p.P838A	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	838					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCAGGAAGGGGGCATAAGCC	0.642000													25	71					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	90					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242274603	242274603	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:242274603G>A	ENST00000391973.2	+	4	721	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	65					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCTGTACCCAGAAAGAGTCAT	0.348000													3	17					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444465	62444465	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62444465C>T	ENST00000294119.2	-	8	795	c.664G>A	c.(664-666)Gat>Aat	p.D222N	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.D222N	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	222	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GAGGTCCCATCTGGCAGCCTG	0.582000													10	84					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6431634	6431634	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6431634G>C	ENST00000348035.4	+	3	400	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.D63H	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	63			D -> G (in dbSNP:rs5831).		actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TGGACAAGAAGATTATGACAG	0.393000													38	59					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21581355	21581355	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:21581355G>C	ENST00000425654.2	+	12	1783		c.e12-1		CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000485012.1_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTTTATATAGAAAACTCTCT	0.323000													4	29					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245467	202245467	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:202245467C>G	ENST00000332624.3	-	16	2972	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	848				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CACCAGGGTTCTTGACCACTC	0.478000													12	96					0	0	1	0	0
AD000671.6	0	broad.mit.edu	37	19	36231466	36231466	+	Splice_Site	SNP	C	C	G	rs112857545		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36231466C>G	ENST00000589807.1	-	9	986		c.e9-1		IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000592537.1_Splice_Site|IGFLR1_ENST00000344990.3_Intron																							AACTCATAGTCTAGCGGGAAA	0.662000													9	67					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140182485	140182485	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:140182485C>A	ENST00000522353.2	+	1	1703	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGATGCCTCGGGTGGGT	0.687000													21	153					1.37657e-19	1.51981e-19	1	1	0
RSF1	51773	broad.mit.edu	37	11	77412843	77412843	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:77412843G>T	ENST00000308488.6	-	6	1733	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGATATTTCTGTCCTTAGAGG	0.398000													8	79					0.00307968	0.00314474	1	1	0
ATP2B4	493	broad.mit.edu	37	1	203693021	203693021	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203693021G>C	ENST00000357681.5	+	19	4160	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1001Q	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1013					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTCATCGTGGAATTTGGGGG	0.532000													5	138					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82780731	82780731	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:82780731C>G	ENST00000248306.3	+	2	478	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		TCGAGGAAATCAAAACCAGAG	0.368000													4	78					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995996	139995996	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139995996G>A	ENST00000371589.4	+	8	1199	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	376					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTTACTCGGATGTGAACAT	0.547000													5	42					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125369	226125369	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226125369G>A	ENST00000366820.5	-	4	1221	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LEFTY2_ENST00000420304.2_Silent_p.Y257Y	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	291					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCACACACTCGTAAGCCAGGA	0.662000													3	40					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339928	55339928	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:55339928G>C	ENST00000314634.3	+	1	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGCTGCCTGGAGATCTTCAT	0.483000													17	126					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74534271	74534271	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74534271C>A	ENST00000553458.1	-	8	952	c.852_splice	c.e8-1	p.G285_splice	ALDH6A1_ENST00000555126.1_Splice_Site_p.G2_splice|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Splice_Site_p.G272_splice|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	285						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTCTTGGCTCCCTAAAAAAA	0.478000													4	31					2.56e-06	2.69637e-06	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15725701	15725701	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:15725701G>A	ENST00000262041.5	-	1	736	c.327C>T	c.(325-327)tgC>tgT	p.C109C		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	109					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGGCTGGAGGCAGAGGCTGT	0.672000													3	16					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178360736	178360736	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:178360736C>G	ENST00000264595.2	-	3	515	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	130					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		ATACCTGACTCTCCTACTAAA	0.343000													14	70					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90371187	90371187	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:90371187C>T	ENST00000369393.3	-	88	14791	c.14676G>A	c.(14674-14676)aaG>aaA	p.K4892K	MDN1_ENST00000428876.1_Silent_p.K4892K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4892					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCACCATTCTTGTCTTCAC	0.458000													7	101					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100022444	100022444	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:100022444C>G	ENST00000258428.3	-	17	2967	c.2739G>C	c.(2737-2739)tgG>tgC	p.W913C	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.W912C	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	913					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGACCATTCCATTTCCCTG	0.443000								Direct reversal of damage					3	47					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655238	6655238	+	Missense_Mutation	SNP	G	G	C	rs146086570	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:6655238G>C	ENST00000299441.3	-	4	2411	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATACCATGGACTTGAGGCC	0.552000													9	60					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176519359	176519359	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:176519359C>T	ENST00000292408.4	+	7	1010	c.765C>T	c.(763-765)ctC>ctT	p.L255L	FGFR4_ENST00000292410.3_Silent_p.L255L|FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	255	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGGCCGGGCTCCCGGCCAACA	0.667000										TSP Lung(9;0.080)			7	24					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588648	21588648	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:21588648C>G	ENST00000392288.2	+	3	352	c.243C>G	c.(241-243)gtC>gtG	p.V81V	CTD-2561J22.3_ENST00000600810.1_Silent_p.V62V|ZNF493_ENST00000596302.1_Silent_p.V82V|ZNF493_ENST00000594390.1_Silent_p.V81V|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000339914.6_Silent_p.V82V	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTACGGTAGTCAAACCCCCAG	0.408000													4	52					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955689	54955689	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:54955689A>G	ENST00000173898.7	+	12	2644	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.G447G|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	844	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAGTGGTGGAGCCAGCTCTG	0.557000													4	52					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7571654	7571654	+	Silent	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:7571654A>T	ENST00000379802.3	+	14	2081	c.1740A>T	c.(1738-1740)atA>atT	p.I580I	DSP_ENST00000418664.2_Silent_p.I580I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	580	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGACGATAGCCGACCTTG	0.443000													27	261					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095740	178095740	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095740G>A	ENST00000397062.3	-	5	2145	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	531	Leucine-zipper.				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTTCAAATGATCTAAATCT	0.343000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			9	60					0	0	1	0	0
PLD3	0	broad.mit.edu	37	19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40882619C>T	ENST00000409587.1	+	11	1520	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PLD3_ENST00000356508.5_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W|PLD3_ENST00000409281.1_Missense_Mutation_p.R375W			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	375					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCATCCATGCGGGCCTTCCT	0.647000													15	73					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575710	45575710	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:45575710C>T	ENST00000303809.2	-	3	791	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	193					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						AGCGGGGCCTCCGGGGCCTCT	0.682000													4	71					0	0	1	0	0
POLR2J3	548644	broad.mit.edu	37	7	102212948	102212948	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:102212948G>C	ENST00000511313.1	-	1	82	c.21C>G	c.(19-21)ttC>ttG	p.F7L	RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000504157.1_5'UTR|POLR2J3_ENST00000513438.1_Missense_Mutation_p.F7L			Q9GZM3	RPB1B_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J3	7						nucleus	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity										AGAACGACTCGAAGGCTGGAG	0.667000													8	233					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413008	116413008	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116413008C>T	ENST00000281928.3	-	25	5905	c.5699G>A	c.(5698-5700)cGa>cAa	p.R1900Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1900					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACGCCCAAGTCGCCCGATTAC	0.438000													5	78					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049679	42049679	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:42049679C>G	ENST00000372584.1	-	3	1804	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E264Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	264	Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTCCATCTCCAGCCCATGT	0.572000													9	76					0	0	1	0	0
MIR485	0	broad.mit.edu	37	14	101521799	101521799	+	RNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:101521799G>C	ENST00000385292.2	+	0	62					NR_030160.1																						TCATCAAAGCGAGTCATACAC	0.537000													3	44					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549080	158549080	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158549080A>G	ENST00000368150.1	-	1	609	c.610T>C	c.(610-612)Tct>Cct	p.S204P		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTATACAAGACAGCCTAATA	0.433000													5	70					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782673	115782673	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:115782673G>A	ENST00000343348.6	-	19	3516	c.2729C>T	c.(2728-2730)tCt>tTt	p.S910F	SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	910					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCCGTAGGAAGAGGAGTGGTG	0.587000													8	77					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548751	116548751	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:116548751C>G	ENST00000410059.1	+	18	2106	c.1626C>G	c.(1624-1626)gaC>gaG	p.D542E	DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000393147.2_Missense_Mutation_p.D546E|DPP10_ENST00000409163.1_Missense_Mutation_p.D492E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	542					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTGACGACTATGGTAAAA	0.323000													4	30					0	0	1	0	0
YOD1	55432	broad.mit.edu	37	1	207222908	207222908	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:207222908G>A	ENST00000367084.1	-	4	576	c.372C>T	c.(370-372)gtC>gtT	p.V124V	YOD1_ENST00000315927.4_Silent_p.V168V|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.V124V	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	168	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTCCTTCGACGACATAGTACA	0.488000													20	26					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79116090	79116090	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:79116090G>C	ENST00000370747.4	+	2	295	c.210G>C	c.(208-210)caG>caC	p.Q70H	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	70					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGTTACCAGGAAGGAAAGT	0.368000													11	102					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70548413	70548413	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:70548413C>T	ENST00000323786.5	-	4	391		c.e4-1		COG4_ENST00000564653.1_Splice_Site|COG4_ENST00000393612.4_Splice_Site	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAGGCGGTTCTGCAAAAAGA	0.433000													6	19					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21081548	21081548	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:21081548G>A	ENST00000255882.6	-	41	4997	c.4911C>T	c.(4909-4911)taC>taT	p.Y1637Y	PI4KA_ENST00000572273.1_Silent_p.Y1579Y|PI4KA_ENST00000414196.3_Silent_p.Y389Y	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1579					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTTCACCCCGTACTGCGCCG	0.657000													15	43					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131172206	131172206	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:131172206G>C	ENST00000357668.1	-	11	941	c.914C>G	c.(913-915)tCt>tGt	p.S305C	ASAP1_ENST00000518721.1_Missense_Mutation_p.S305C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	305					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGGCTCTGAGAATCCTAGGA	0.443000													9	63					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468144	61468144	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:61468144C>T	ENST00000398019.2	+	7	967	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SERPINB7_ENST00000546027.1_Silent_p.F214F|SERPINB7_ENST00000540675.1_Silent_p.F197F|SERPINB7_ENST00000336429.2_Silent_p.F214F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	214					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AACGGAAGTTCAATTTGTCTG	0.408000													10	73					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099146	111099146	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111099146C>G	ENST00000356742.5	-	3	882	c.129G>C	c.(127-129)aaG>aaC	p.K43N	HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N|HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	43					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tctccCATTTCTTGTAGTTGA	0.597000													7	65					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886561	29886561	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:29886561G>T	ENST00000310624.6	+	4	2965	c.2932G>T	c.(2932-2934)Gat>Tat	p.D978Y		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	984	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGAAGATGACAAGAC	0.512000													6	77					0.00116845	0.00120444	1	1	0
CNPY4	245812	broad.mit.edu	37	7	99722164	99722164	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722164G>C	ENST00000262932.3	+	5	625	c.493G>C	c.(493-495)Gac>Cac	p.D165H	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	165	Glu-rich.					extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGTTTGAAGACATTGTGGG	0.512000													12	79					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874818	26874818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26874818C>T	ENST00000484980.1	-	3	3363	c.202G>A	c.(202-204)Gag>Aag	p.E68K	UNC119_ENST00000335765.4_Missense_Mutation_p.E163K|UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000301032.4_Missense_Mutation_p.E163K			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	163					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TAGTGCCTCTCGATCATGCGG	0.517000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	119					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890533	197890533	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:197890533C>G	ENST00000367390.3	+	4	477	c.450C>G	c.(448-450)ttC>ttG	p.F150L	LHX9_ENST00000561173.1_Missense_Mutation_p.F165L|LHX9_ENST00000367387.4_Missense_Mutation_p.F159L|LHX9_ENST00000367391.1_Missense_Mutation_p.F150L|LHX9_ENST00000337020.2_Missense_Mutation_p.F159L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	159	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGAGCTGCTTCACCTGCTCCA	0.597000													4	94					0	0	1	0	0
ZMAT5	55954	broad.mit.edu	37	22	30134374	30134374	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:30134374G>C	ENST00000397781.3	-	6	578	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	ZMAT5_ENST00000344318.3_Missense_Mutation_p.L110V	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	110					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CAGTCCTCCAGATGGCCCTCG	0.642000													4	49					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414560	121414560	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121414560C>T	ENST00000393667.3	-	13	4920	c.4810G>A	c.(4810-4812)Gca>Aca	p.A1604T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1599T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1599					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTACTTTCTGCAATCTTAGAA	0.378000													18	57					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1460850	1460850	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1460850C>G	ENST00000535453.1	+	11	3228	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	APC2_ENST00000238483.4_Silent_p.L231L|APC2_ENST00000233607.2_Silent_p.L505L|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	505					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGGAGCTCCACCAGGTAC	0.697000													8	38					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156281931	156281931	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:156281931G>C	ENST00000295688.3	-	11	1336	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	CCT3_ENST00000368259.2_Missense_Mutation_p.I314M|CCT3_ENST00000368261.3_Missense_Mutation_p.I307M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	352					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAATTTTCTTGATTTCCAACA	0.517000													6	65					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26725246	26725246	+	Missense_Mutation	SNP	C	C	T	rs111033535		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:26725246C>T	ENST00000272371.2	-	7	758	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	211					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCTAGCCGAATGGCCAG	0.557000													4	21					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735697	12735697	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:12735697G>A	ENST00000380682.1	+	16	3258	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	918					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAATGACTGAGAGTTCTGA	0.493000													24	199					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688184	55688184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:55688184G>T	ENST00000358433.2	-	1	832	c.833C>A	c.(832-834)tCa>tAa	p.S278*		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGGGCAATTGAGGTATAGAG	0.363000													11	63					0.000978159	0.00101069	1	1	0
PRKCE	5581	broad.mit.edu	37	2	46203651	46203651	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:46203651C>G	ENST00000306156.3	+	3	823	c.496C>G	c.(496-498)Cag>Gag	p.Q166E		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	166					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGGTCCATCAGGTCAACGG	0.587000													29	90					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222263	53222263	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:53222263C>G	ENST00000375401.3	-	26	5101	c.4569G>C	c.(4567-4569)caG>caC	p.Q1523H	KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1523					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAAGCCATTCTGGTTCTCCT	0.677000			"""N, F, S"""		clear cell renal carcinoma								3	36					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90167617	90167617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:90167617C>G	ENST00000268138.7	+	20	4181	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		CCTGTTCCCTCAACTCCCCCT	0.527000													16	110					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855726	228855726	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:228855726C>G	ENST00000392056.3	-	11	4995	c.4949G>C	c.(4948-4950)aGa>aCa	p.R1650T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1650						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTTCAATTCTGTTTTCCTG	0.453000													7	76					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394225	52394225	+	Silent	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52394225T>C	ENST00000354957.3	-	5	1448	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G	ZNF649_ENST00000600738.1_Silent_p.G360G|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTCTAATGAGTCCTGACTTCT	0.433000													14	85					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2395011	2395011	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2395011C>G	ENST00000360876.4	+	1	511	c.455C>G	c.(454-456)tCc>tGc	p.S152C	EIF3B_ENST00000397011.2_Missense_Mutation_p.S152C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	152	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGAGCCCTCCTTCAGCGAC	0.756000													3	15					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	307135	307135	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:307135G>T	ENST00000428720.1	-	9	1624	c.881C>A	c.(880-882)tCc>tAc	p.S294Y	SLC6A12_ENST00000397296.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S294Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S294Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S294Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	294					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GATGGCAAAGGAGAAGAAGAT	0.587000													5	116					1.024e-07	1.09445e-07	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102906847	102906847	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:102906847C>T	ENST00000359520.7	+	11	2879	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	885							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAGGGGAAGCGGCACTGGTA	0.517000													11	80					0	0	1	0	0
CATSPER2P1	0	broad.mit.edu	37	15	44036385	44036385	+	RNA	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44036385T>C	ENST00000381680.2	-	0	578					NR_002318.2																						TTCAAAAAGATCAGGAAGATG	0.423000													10	40					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525515	176525515	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176525515C>G	ENST00000367662.3	+	2	1221	c.57C>G	c.(55-57)ctC>ctG	p.L19L	PAPPA2_ENST00000367661.3_Silent_p.L19L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	19					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTGGGCACTCTGTTCTGCCA	0.507000													8	161					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411742	179411742	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179411742G>C	ENST00000589042.1	-	340	94734	c.94510C>G	c.(94510-94512)Caa>Gaa	p.Q31504E	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|TTN_ENST00000591111.1_Missense_Mutation_p.Q29863E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29863	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGATTTTGAGCCATTATA	0.363000													19	113					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108704338	108704338	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:108704338C>A	ENST00000361189.2	-	5	1632	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	465					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCATTCTCATCTTTTCCTGGC	0.423000													15	53					7.93312e-07	8.41685e-07	1	1	0
ALG9	79796	broad.mit.edu	37	11	111747359	111747359	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:111747359G>C	ENST00000524880.1	-	4	830	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q180E|ALG9_ENST00000527377.1_5'UTR			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GACTTATCTTGACTCCTGGCA	0.388000													5	47					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714679	52714679	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52714679C>T	ENST00000322088.6	+	4	495	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	146	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCCCGCACCTCGGCCTGCGGC	0.652000			Mis		clear cell ovarian carcinoma								11	90					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	22					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105438994	105438994	+	Missense_Mutation	SNP	C	C	G	rs116474782	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:105438994C>G	ENST00000264122.4	-	10	1625	c.1304G>C	c.(1303-1305)tGt>tCt	p.C435S	CBLB_ENST00000394027.3_Missense_Mutation_p.C457S|CBLB_ENST00000403724.1_Missense_Mutation_p.C435S|CBLB_ENST00000405772.1_Missense_Mutation_p.C435S|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	435					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATGCTGCAACACCTGGAGCC	0.512000			Mis S		AML								5	30					0	0	1	0	0
MBD5	0	broad.mit.edu	37	2	149241016	149241016	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:149241016G>C	ENST00000404807.1	+	5	2985	c.2856G>C	c.(2854-2856)gaG>gaC	p.E952D	MBD5_ENST00000407073.1_Intron			Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	957						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCAAGTCTGAGATCAACCTCC	0.453000													10	71					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230459297	230459297	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:230459297G>C	ENST00000321327.2	-	9	1538	c.1539C>G	c.(1537-1539)atC>atG	p.I513M	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Missense_Mutation_p.I414M|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	414						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCATTGTTGATGGCGATGC	0.517000													15	111					0	0	1	0	0
ZNF821	55565	broad.mit.edu	37	16	71898077	71898077	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:71898077G>A	ENST00000425432.1	-	6	760	c.381C>T	c.(379-381)tgC>tgT	p.C127C	RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Silent_p.C85C|ZNF821_ENST00000446827.2_Silent_p.C85C|ZNF821_ENST00000565601.1_Silent_p.C127C|ZNF821_ENST00000564134.1_Silent_p.C126C|RP11-498D10.4_ENST00000568581.1_Intron	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCCGGCTCCCGCAGTCTAGCT	0.532000													13	71					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44426880	44426880	+	Missense_Mutation	SNP	A	A	G	rs117692141		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:44426880A>G	ENST00000372343.3	+	14	2952	c.2290A>G	c.(2290-2292)Att>Gtt	p.I764V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	764					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTTTCCCCCAATTGAGGCCCT	0.587000													37	358					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825882	103825882	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103825882C>G	ENST00000299238.5	+	1	736	c.651C>G	c.(649-651)ctC>ctG	p.L217L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	217						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACGTTCTACTCATCTGGAGCC	0.622000									Hermansky-Pudlak syndrome				23	58					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895247	24895247	+	Nonsense_Mutation	SNP	C	C	T	rs140002881		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:24895247C>T	ENST00000382071.2	+	4	428	c.343C>T	c.(343-345)Cga>Tga	p.R115*	C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	115	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAAGGGCCTCCGAGGAGAGAC	0.602000													17	50					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165191	1165191	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1165191C>G	ENST00000290902.5	-	3	636	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	102	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701000													7	38					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173234	207173234	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:207173234G>C	ENST00000374423.3	+	5	4368	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1328							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTGATTCTGAAATAATTTA	0.383000													5	42					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52511996	52511996	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52511996G>C	ENST00000261839.7	-	31	3906	c.3745C>G	c.(3745-3747)Cag>Gag	p.Q1249E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1249						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGATGTAACTGATTAGACAAT	0.378000													9	19					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:143028681C>G	ENST00000343257.2	+	10	1189	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000													7	62					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226173095	226173095	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226173095G>A	ENST00000272091.7	-	7	1282	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	SDE2_ENST00000366817.1_Missense_Mutation_p.R327W	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.R422W(1)|p.R410W(1)									CTTGCTGCCCGCTCCTGCAGA	0.502000													7	84					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043585	119043585	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:119043585C>G	ENST00000334464.5	-	5	2898	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	887					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGAAGTCTCAGCTAGACAC	0.433000													8	53					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14177406	14177406	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:14177406G>C	ENST00000306077.4	+	10	1134	c.880G>C	c.(880-882)Gag>Cag	p.E294Q		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	294						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTTCTCAGCAGAGGTGAGTGC	0.552000													5	68					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441993	6441993	+	Silent	SNP	C	C	T	rs61753123	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6441993C>T	ENST00000348035.4	+	6	708	c.495C>T	c.(493-495)ctC>ctT	p.L165L	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Silent_p.L184L	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	165					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AGCGAGGCCTCAAGACAGTGT	0.547000													7	92					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130392265	130392265	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:130392265G>A	ENST00000529410.1	+	15	1716	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAGAGCTATGACTATTGGTG	0.343000													16	135					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42021388	42021388	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:42021388C>T	ENST00000219905.7	+	11	3865	c.3684C>T	c.(3682-3684)gtC>gtT	p.V1228V	MGA_ENST00000566586.1_Silent_p.V1228V|MGA_ENST00000545763.1_Silent_p.V1228V|MGA_ENST00000570161.1_Silent_p.V1228V|MGA_ENST00000389936.4_Silent_p.V1228V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1228						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V1228V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGATCCAGTCTACTTGTACT	0.408000													5	14					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125076587	125076587	+	Splice_Site	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:125076587G>T	ENST00000522917.1	+	26	3534		c.e26-1		FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)							integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTCATTTCAGATATTTCAGA	0.507000													17	107					4.14922e-12	4.53495e-12	1	1	0
AVEN	57099	broad.mit.edu	37	15	34159950	34159950	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:34159950G>A	ENST00000306730.3	-	5	848	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAAAGATGGGCCCCCTTCC	0.547000													6	84					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560367	35560367	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35560367G>C	ENST00000455600.1	+	10	4299	c.3730G>C	c.(3730-3732)Gaa>Caa	p.E1244Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1244	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ggaagaggaagaagaggagac	0.687000													9	30					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955308	30955308	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:30955308G>A	ENST00000376296.3	+	2	1597	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	452						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCAGCTCTGACTGGAATGC	0.577000													8	160					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2844651	2844651	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2844651G>T	ENST00000380445.3	+	16	1605	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Silent_p.L367L|VPS16_ENST00000380443.3_Silent_p.L197L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	511					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACCAGAAGCTGGGGGACACGC	0.582000													5	135					1.23904e-05	1.28943e-05	1	1	0
OR10K1	391109	broad.mit.edu	37	1	158435818	158435818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158435818C>T	ENST00000289451.2	+	1	547	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCACTGTCTCCCTGGTCACC	0.532000													22	203					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2188795	2188795	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2188795G>A	ENST00000406869.1	-	11	1622	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	MAD1L1_ENST00000265854.7_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V|MAD1L1_ENST00000399654.2_Silent_p.V355V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	355					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGCTGGTGACGGCGCTGT	0.582000													5	45					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137682488	137682488	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:137682488C>G	ENST00000239906.5	+	5	1447	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	340										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCCTCTCTGCTTCCTGC	0.622000													9	61					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629493	118629493	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:118629493C>A	ENST00000336338.5	-	11	1563		c.e11+1			NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCTATCTGACCTTTTTCTCC	0.458000													33	105					8.16721e-17	8.97155e-17	1	1	0
FBN3	84467	broad.mit.edu	37	19	8176535	8176535	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:8176535C>T	ENST00000600128.1	-	32	4495	c.4081G>A	c.(4081-4083)Gaa>Aaa	p.E1361K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1361K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1361K			Q75N90	FBN3_HUMAN	fibrillin 3	1361	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCTCACCTTCGCAGAAGAAG	0.642000													3	15					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027892	134027892	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:134027892G>A	ENST00000534548.2	-	31	4169	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1369					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTCCGACTCCGATGCCTGCTC	0.507000													20	200					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39304134	39304134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:39304134G>A	ENST00000381897.1	-	18	2558	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*	RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	809					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGATATCTTGATTGGCTCCC	0.353000													4	33					0	0	1	0	0
PTPN3	0	broad.mit.edu	37	9	112195361	112195361	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:112195361G>C	ENST00000412145.1	-	5	2916	c.363C>G	c.(361-363)ttC>ttG	p.F121L	PTPN3_ENST00000374541.2_Missense_Mutation_p.F252L|PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	252	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACCAAGGATAGAAACTTGTGC	0.348000													5	36					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6502580	6502580	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502580C>G	ENST00000361413.3	-	14	2507	c.2149G>C	c.(2149-2151)Gcg>Ccg	p.A717P	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	717						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGGGCTTTCGCTGTGTTTACT	0.358000													5	38					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450933	85450933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:85450933C>T	ENST00000393217.2	+	8	2423	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	788								p.R788*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAATTCTTCGATGTGGCCC	0.323000													11	149					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75996926	75996926	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:75996926G>C	ENST00000274364.6	+	34	4690	c.4393G>C	c.(4393-4395)Gat>Cat	p.D1465H	IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1465					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATTAAACTAGATGGAAAAGG	0.423000													9	46					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053347	46053347	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:46053347G>A	ENST00000536708.2	+	8	950	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.E256K	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	256					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACCCCACCTCGAGGAGCTTCC	0.607000													10	70					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252592	46252592	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46252592C>T	ENST00000510861.1	-	10	1262	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	GABRA2_ENST00000381620.4_Silent_p.Q363Q|GABRA2_ENST00000540012.1_Silent_p.Q368Q|GABRA2_ENST00000514090.1_Silent_p.Q363Q|GABRA2_ENST00000356504.1_Silent_p.Q363Q|GABRA2_ENST00000507069.1_Silent_p.Q423Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	363					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCGTTGTTCTGTATCATAA	0.408000													10	83					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216487	111216487	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:111216487G>A	ENST00000369769.2	-	1	1168	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	315						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGACAAGCGAAGAACCGCA	0.557000													24	95					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20905332	20905332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:20905332C>G	ENST00000266509.2	+	15	2377	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	670					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATTATGTTTCAAAACACAGA	0.343000													4	36					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14675027	14675027	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14675027C>G	ENST00000436007.2	+	8	586	c.462C>G	c.(460-462)atC>atG	p.I154M	TECR_ENST00000215567.5_Missense_Mutation_p.I139M|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	139					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						TCCACTACATCAAGCGCCTGC	0.627000													15	94					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37291994	37291994	+	Silent	SNP	G	G	C	rs142538657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:37291994G>C	ENST00000233099.5	-	10	1568	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	HEATR5B_ENST00000354531.2_Silent_p.L491L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	491							binding	p.L491L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAAGTTGTTGAGCCGTTCTG	0.507000													22	44					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:59373350C>A	ENST00000348370.4	+	8	2597	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	RNF111_ENST00000557998.1_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K|RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502000													16	116					1.3612e-06	1.44069e-06	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153663762	153663762	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153663762G>A	ENST00000369762.2	+	9	1175	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	372					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCACTGCGAGTATGTCAG	0.592000													21	51					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042916	31042916	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:31042916C>T	ENST00000343605.4	+	2	1750	c.951C>T	c.(949-951)ctC>ctT	p.L317L	SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	317	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCGCACTCACTCTTTCAG	0.627000													10	70					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45577223	45577223	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:45577223G>C	ENST00000347635.3	+	6	1526	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q|NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGAAGTAAAAGAAGAAGATGC	0.418000													4	54					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058204	170058204	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170058204G>A	ENST00000263816.3	-	44	8671	c.8386C>T	c.(8386-8388)Cgt>Tgt	p.R2796C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2796	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAAACTCACGAGGTATGCAC	0.433000													5	64					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549791	62549791	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62549791C>G	ENST00000294168.3	+	8	1014	c.813C>G	c.(811-813)ctC>ctG	p.L271L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	271					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCCTCCTGCTCAGCCACATCT	0.607000													37	100					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7748879	7748879	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7748879C>T	ENST00000254846.5	+	4	396	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	KDM6B_ENST00000448097.2_Missense_Mutation_p.R3W	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	3					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGATGCATCGGGCAGTGGA	0.637000													10	108					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126326	121126326	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121126326C>G	ENST00000273666.6	+	24	3167	c.2896C>G	c.(2896-2898)Cag>Gag	p.Q966E	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	966					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTGCCTTCTCAGACTTGCCT	0.418000													12	71					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395956	40395956	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40395956G>C	ENST00000221347.6	-	15	7448	c.7441C>G	c.(7441-7443)Cag>Gag	p.Q2481E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2481	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCAGGTCTGAGCCAGCACA	0.642000													29	311					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723897	49723897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:49723897G>A	ENST00000449682.2	-	8	1226	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.R214C	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	275	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCTTGGCGGGGCTGTGCC	0.657000													4	27					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429011	42429011	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42429011C>T	ENST00000053867.3	+	10	1089	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	GRN_ENST00000589265.1_Missense_Mutation_p.P186S|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	343					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACCAGGTGCCCTGGATGGA	0.607000													34	67					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626043	154626043	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:154626043G>C	ENST00000260010.6	+	1	3392	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	662	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TATGGTCCAGGAGCTGGAGAA	0.473000													10	60					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158909028	158909028	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158909028C>T	ENST00000368140.1	+	4	815	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368138.3_Silent_p.S181S|PYHIN1_ENST00000368135.4_Silent_p.S190S|PYHIN1_ENST00000392254.2_Silent_p.S190S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	190					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACACTTCCTCAACTGAGG	0.502000													7	127					0	0	1	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2233840	2233840	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:2233840C>T	ENST00000589097.1	-	7	1562	c.449G>A	c.(448-450)tGa>tAa	p.*150*	PLEKHJ1_ENST00000587962.1_3'UTR|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000586608.1_Silent_p.*151*|PLEKHJ1_ENST00000326631.2_Silent_p.*150*|PLEKHJ1_ENST00000588545.1_Silent_p.*131*|PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000589791.1_5'UTR			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	0							protein binding			endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGCGCTCACGCCTGCAA	0.637000													4	20					0	0	1	0	0
TVP23B	51030	broad.mit.edu	37	17	18692746	18692746	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:18692746C>G	ENST00000307767.8	+	2	392	c.93C>G	c.(91-93)atC>atG	p.I31M	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.I31M	NM_016078.4	NP_057162.4			trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		AAGCCAAAATCAGGTAGGAGG	0.428000													5	75					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834449	107834449	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:107834449C>G	ENST00000328300.6	+	20	1571	c.1327C>G	c.(1327-1329)Cac>Gac	p.H443D	COL4A5_ENST00000361603.2_Missense_Mutation_p.H443D	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	443	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCTGGCCCTCACATTCCTCC	0.458000									Alport syndrome with Diffuse Leiomyomatosis				5	78					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56825346	56825346	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56825346G>C	ENST00000229201.4	-	8	881	c.727C>G	c.(727-729)Cag>Gag	p.Q243E	TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q244E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	244					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCCGCTCCTGAGCTAAGCGT	0.552000													7	55					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36484194	36484194	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:36484194G>C	ENST00000378867.3	+	10	1370	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	339										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GTGCTCCAGTGAGCCCAACAT	0.667000													11	38					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53340214	53340214	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:53340214G>A	ENST00000566029.1	+	32	6894	c.6685G>A	c.(6685-6687)Gag>Aag	p.E2229K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2230K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2229K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2229K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2229					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TACCCAGGATGAGACTCAGGA	0.398000													4	38					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33370197	33370197	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:33370197C>T	ENST00000305768.4	-	19	2311	c.2223G>A	c.(2221-2223)acG>acA	p.T741T		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	741						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CGCCTGTCCTCGTGAGTGTGT	0.532000													5	217					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887352	155887352	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:155887352G>C	ENST00000368320.3	-	11	1403	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q460E			Q7Z7F0	K0907_HUMAN	KIAA0907	460										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CGTCTCTTCTGTGCCTGGGGC	0.537000													18	158					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737522	248737522	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248737522G>A	ENST00000328782.2	-	1	558	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACTCAGGATTTTCCTAG	0.522000													20	43					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77969711	77969711	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:77969711G>A	ENST00000237654.4	-	7	1371	c.795C>T	c.(793-795)ctC>ctT	p.L265L	CCNI_ENST00000537948.1_Silent_p.L251L	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	265					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGGTGTGCTTGAGGGGACGGT	0.527000													11	82					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753449	13753449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:13753449G>C	ENST00000265104.4	-	63	10869	c.10765C>G	c.(10765-10767)Caa>Gaa	p.Q3589E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3589	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCCATTTTGAATGGACAAG	0.383000									Kartagener syndrome				11	57					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													3	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7578534C>A	ENST00000420246.2	-	5	528	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	32					1.64293e-13	1.80019e-13	1	1	0
PCNT	5116	broad.mit.edu	37	21	47831535	47831535	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831535G>A	ENST00000359568.5	+	28	5655	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1850					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCTGAGGTCGAAGACATGGC	0.617000													7	60					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125588934	125588934	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:125588934C>G	ENST00000259467.4	-	2	298	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	45					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGCTCAGCCTCTGCAGGCACA	0.502000													6	45					0	0	1	0	0
PTPN13	0	broad.mit.edu	37	4	87724875	87724875	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:87724875G>C	ENST00000436978.1	+	43	7014	c.6534G>C	c.(6532-6534)ctG>ctC	p.L2178L	PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000427191.2_Silent_p.L2154L|PTPN13_ENST00000411767.2_Silent_p.L2173L|PTPN13_ENST00000511467.1_Silent_p.L2178L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2173						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTCCTTTCTGACAAACGATG	0.423000													8	82					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14578566	14578566	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14578566C>G	ENST00000242783.6	+	14	2010	c.1845C>G	c.(1843-1845)ttC>ttG	p.F615L	PKN1_ENST00000342216.4_Missense_Mutation_p.F621L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	615	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCGAAGATTTCAAGTTCCTGG	0.632000													7	74					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445612	144445612	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:144445612C>G	ENST00000283131.3	+	4	974	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	171					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTTGAAGACTCTCCATCGTGT	0.378000													5	41					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130356587	130356587	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:130356587G>C	ENST00000456951.1	-	8	1423	c.572C>G	c.(571-573)tCa>tGa	p.S191*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191*			Q96PP4	TSG13_HUMAN	testis specific, 13	191										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTAGACTTTTGAATACTTCCC	0.423000													14	57					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30989971	30989971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:30989971C>G	ENST00000298139.5	+	24	3165	c.2916C>G	c.(2914-2916)atC>atG	p.I972M		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	972					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			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)		CTGTGGACATCTTAGGCGAAA	0.368000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	21					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99294911	99294911	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:99294911C>G	ENST00000393487.1	-	3	431	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	MGAT4A_ENST00000264968.2_Missense_Mutation_p.E40Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40Q	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338000													5	26					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13463939	13463939	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:13463939G>C	ENST00000337743.4	-	11	1040	c.920C>G	c.(919-921)tCa>tGa	p.S307*	TASP1_ENST00000539805.1_Missense_Mutation_p.H110D|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	307					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TAAAGCATGTGAACATTCTCT	0.418000													9	107					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318236	3318236	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:3318236C>T	ENST00000336727.3	+	2	1243	c.339C>T	c.(337-339)ctC>ctT	p.L113L	RGS12_ENST00000344733.5_Silent_p.L113L|RGS12_ENST00000543385.1_Silent_p.L113L|RGS12_ENST00000382788.3_Silent_p.L113L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	113						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGGGGACTCTATGAAGGAA	0.488000													4	71					0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2303970	2303970	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:2303970G>A	ENST00000174618.4	-	1	442	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	13					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGCCATTCCAGGAAGCGGGCC	0.731000													9	3					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951728	37951728	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:37951728G>A	ENST00000436072.2	-	4	1161	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	262	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TACCTTGAGCGCCACTCGTAA	0.443000													7	61					0	0	1	0	0
HERC2P9	0	broad.mit.edu	37	15	28900755	28900755	+	RNA	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:28900755A>G	ENST00000528584.1	+	0	162					NR_036443.1																						TCCCTGACTCAGTGGAATGGG	0.617000													4	28					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16901059	16901059	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:16901059C>G	ENST00000310398.2	-	6	386	c.316G>C	c.(316-318)Gat>Cat	p.D106H	AGR3_ENST00000402239.3_Missense_Mutation_p.D106H	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	106						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AAATTCTTATCAGTGGTTTCA	0.318000													5	53					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148899820	148899820	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:148899820C>G	ENST00000264613.6	-	14	2788	c.2526G>C	c.(2524-2526)gaG>gaC	p.E842D		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	842	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGTAGAACTCTCTGTTTGTA	0.468000													11	88					0	0	1	0	0
CTU2	348180	broad.mit.edu	37	16	88780614	88780614	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88780614C>T	ENST00000567949.1	+	10	1298	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CTU2_ENST00000453996.2_Missense_Mutation_p.S359F|CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000378384.3_Missense_Mutation_p.S272F			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	359					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTTCCCCTCCACTGTCAGC	0.627000													8	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683260	100683260	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683260G>A	ENST00000306151.4	+	3	8627	c.8563G>A	c.(8563-8565)Gaa>Aaa	p.E2855K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2855	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTGCTGAAGGTATCGT	0.507000													8	586					0	0	1	0	0
PSG8	0	broad.mit.edu	37	19	43268424	43268424	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:43268424A>G	ENST00000404209.4	-	2	170	c.74T>C	c.(73-75)tTa>tCa	p.L25S	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S|PSG8_ENST00000306511.4_Missense_Mutation_p.L25S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	25						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAGAAGTTTAAAAGTGATGC	0.478000													11	145					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133185774	133185774	+	Missense_Mutation	SNP	C	C	A	rs140878916		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:133185774C>A	ENST00000302334.2	+	5	1083	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	332	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCAGAGCCTCCAGGCTGAGAC	0.537000													6	68					2.0095e-06	2.12168e-06	1	1	0
PTPRM	5797	broad.mit.edu	37	18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:8406128G>A	ENST00000332175.8	+	31	5364	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1443	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTCTGCTACGAGGTGGCCCT	0.453000													5	42					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:40636563C>A	ENST00000342449.3	-	17	1786	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	BRWD1_ENST00000333229.2_Missense_Mutation_p.D570Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373000													6	22					0.00198382	0.0020305	1	1	0
POTEH	23784	broad.mit.edu	37	22	16279214	16279214	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:16279214C>T	ENST00000343518.6	-	4	1060	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	337								p.A337S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATCCAGTGCATTTAAATTT	0.313000													11	233					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63053311	63053311	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:63053311C>A	ENST00000263991.5	+	6	884	c.402C>A	c.(400-402)gtC>gtA	p.V134V	EHBP1_ENST00000405289.1_Silent_p.V134V|EHBP1_ENST00000354487.3_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Silent_p.V134V|EHBP1_ENST00000431489.1_Silent_p.V134V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	134						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGACTGATGTCAAGTTAAAAT	0.398000													7	41					0.00198382	0.0020305	1	1	0
INPP5A	3632	broad.mit.edu	37	10	134563349	134563349	+	Splice_Site	SNP	G	G	A	rs142848612		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:134563349G>A	ENST00000368594.3	+	11	1180	c.903_splice	c.e11+1	p.A301_splice	INPP5A_ENST00000368593.3_Splice_Site_p.A301_splice	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	301					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		ACGGCACCGCGGTGAGTTTGT	0.562000													17	81					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92765171	92765171	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:92765171G>A	ENST00000318238.4	-	5	1330	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SAMD9L_ENST00000437805.1_Silent_p.L38L|SAMD9L_ENST00000411955.1_Silent_p.L38L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	38	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTTCACTGAGCAGAATTT	0.398000													4	85					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114856633	114856633	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:114856633G>T	ENST00000420625.2	+	3	283	c.149G>T	c.(148-150)gGa>gTa	p.G50V	PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V|PLS3_ENST00000289290.3_Missense_Mutation_p.G5V	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	50						cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CCATTACCAGGATATAAAGTG	0.353000													9	76					1.12685e-05	1.17832e-05	1	1	0
FAM86JP	0	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													4	119					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30088967	30088967	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:30088967C>T	ENST00000449726.1	+	5	916	c.566C>T	c.(565-567)tCa>tTa	p.S189L	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	189					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCACCAGGATCACCTCAGCTG	0.458000													8	91					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653081	46653081	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:46653081C>G	ENST00000253255.5	-	1	6138	c.6139G>C	c.(6139-6141)Gat>Cat	p.D2047H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2047					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAATGTGATCTACCTGAGAA	0.428000													8	64					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692637	23692637	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:23692637G>A	ENST00000397312.2	-	7	1272	c.998C>T	c.(997-999)gCg>gTg	p.A333V	ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	333	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCTAGCTATCGCCATGGCAGC	0.453000													19	44					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915596	48915596	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:48915596A>G	ENST00000294954.7	-	11	1361	c.1340T>C	c.(1339-1341)gTa>gCa	p.V447A	LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	447					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTGCGAATACAGTGAAAAA	0.488000													11	75					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q|EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	268					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587000													4	63					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25715961	25715961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:25715961G>A	ENST00000520164.1	-	14	1939	c.1402C>T	c.(1402-1404)Caa>Taa	p.Q468*	EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	468	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTAGACTGTTGAGGCGTGGAG	0.502000													7	69					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393337	233393337	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:233393337C>T	ENST00000457943.2	+	5	508	c.209C>T	c.(208-210)tCg>tTg	p.S70L	CHRND_ENST00000258385.3_Silent_p.F160F|CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000543200.1_Silent_p.F145F			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.F160F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATTTCCCCTTCGACTGGCAGA	0.577000													24	115					0	0	1	0	0
SGK494	0	broad.mit.edu	37	17	26939325	26939325	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26939325C>G	ENST00000301037.5	-	6	606	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA	NM_001174103.1	NP_001167574.1																					ATGGAAGCCTCAGGAAAGCAG	0.498000													7	62					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45642401	45642401	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45642401G>A	ENST00000267430.5	+	13	2389	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	FANCM_ENST00000542564.2_Missense_Mutation_p.M742I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	768					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGAGGGAATGAGACACGAAG	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	47					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600930	27600930	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27600930G>C	ENST00000323703.6	-	4	1306	c.1108C>G	c.(1108-1110)Cac>Gac	p.H370D	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	370					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGATAGTGAGTGGCAAAG	0.632000													18	150					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984677	158984677	+	Silent	SNP	C	C	T	rs144369567	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158984677C>T	ENST00000295809.7	+	2	462	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	69	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388000													7	93					0	0	1	0	0
HSP90AB2P	0	broad.mit.edu	37	4	13339176	13339176	+	RNA	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:13339176C>T	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						CTATGTCCATCGTGTGTTCAT	0.433000													4	36					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088726	65088726	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:65088726C>T	ENST00000544348.1	+	2	963	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CDC42EP2_ENST00000279249.2_Silent_p.L119L|CDC42EP2_ENST00000533419.1_Silent_p.L119L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	119					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCCAGGCTCTCACCCTGCCCA	0.692000													13	77					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994908	49994908	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:49994908C>T	ENST00000544141.1	-	4	844	c.245G>A	c.(244-246)cGc>cAc	p.R82H	FAM186B_ENST00000551047.1_Missense_Mutation_p.R172H|FAM186B_ENST00000257894.2_Missense_Mutation_p.R172H|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	172						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGAAGGTGCGTTTGGACAC	0.527000													4	70					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785380	178785380	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:178785380G>A	ENST00000311417.2	-	2	902	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	54					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CCCTCCCTTCGATAACTCTTC	0.552000													15	76					0	0	1	0	0
PRRT1	80863	broad.mit.edu	37	6	32117019	32117019	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32117019C>T	ENST00000211413.5	-	4	1025	c.901G>A	c.(901-903)Gag>Aag	p.E301K	PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	301					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CAGTAGTTCTCGTGGTGCTGC	0.627000													11	30					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261782	1261782	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:1261782G>C	ENST00000348261.5	+	24	4791	c.4543G>C	c.(4543-4545)Gat>Cat	p.D1515H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1515					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGACGGGCTGGATGCCGTGGG	0.662000													8	73					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523840	24523840	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:24523840G>C	ENST00000376862.3	+	2	740	c.107G>C	c.(106-108)aGa>aCa	p.R36T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	36					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.R36T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCCGAGAGCAGAGATGGTCTG	0.562000													7	76					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291464	62291464	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:62291464G>A	ENST00000258991.3	-	2	198	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TEX2_ENST00000583097.1_Silent_p.F38F|TEX2_ENST00000584379.1_Silent_p.F38F			Q8IWB9	TEX2_HUMAN	testis expressed 2	38					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGGATGCCGAGAAGTGAATGG	0.562000													10	84					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6499537	6499537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6499537C>A	ENST00000361413.3	-	15	2657	c.2299G>T	c.(2299-2301)Gag>Tag	p.E767*	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468*	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	767						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTGCTGTCCTCAACGGTGGCT	0.522000													18	135					2.35188e-11	2.56408e-11	1	1	0
SORL1	6653	broad.mit.edu	37	11	121393333	121393333	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:121393333C>T	ENST00000260197.7	+	10	1572	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	481					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCAGCGCCTCAGTCAGCTCC	0.547000													15	195					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43298817	43298817	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:43298817C>G	ENST00000269844.3	-	3	510	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GACTCAGCTTCTCTAAACGCG	0.642000													3	13					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683261	100683261	+	Missense_Mutation	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683261A>T	ENST00000306151.4	+	3	8628	c.8564A>T	c.(8563-8565)gAa>gTa	p.E2855V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2855	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTGCTGAAGGTATCGTC	0.512000													6	595					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033632	64033632	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:64033632C>G	ENST00000540288.1	+	27	3327	c.3224C>G	c.(3223-3225)gCa>gGa	p.A1075G	PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1075					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCCTTGATGCAAACACAACT	0.567000													10	164					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282685	53282685	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:53282685C>T	ENST00000448904.2	-	6	885	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LECT1_ENST00000377962.3_Missense_Mutation_p.D259N	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	259					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TAAGGATTATCAGGATTGAAG	0.483000													4	25					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153948312	153948312	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:153948312C>T	ENST00000271843.4	-	4	709	c.274G>A	c.(274-276)Gag>Aag	p.E92K	JTB_ENST00000356648.1_Missense_Mutation_p.E63K|JTB_ENST00000368589.1_Missense_Mutation_p.E63K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	92					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTTGAACTCATTTCTCTTA	0.463000													6	135					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:151095894G>C	ENST00000474524.1	+	29	4344	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1436					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537000													6	58					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79615062	79615062	+	RNA	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:79615062C>A	ENST00000328585.4	+	0	896				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATGCGGACGCAGCTCAGAGA	0.711000													4	16					0.150653	0.151001	1	1	0
ESRRB	2103	broad.mit.edu	37	14	76928925	76928925	+	Silent	SNP	C	C	T	rs1064439		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:76928925C>T	ENST00000380887.2	+	3	507	c.435C>T	c.(433-435)tgC>tgT	p.C145C	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.C145C|ESRRB_ENST00000261532.7_Silent_p.C145C|ESRRB_ENST00000509242.1_Silent_p.C145C			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCAACGAGTGCGAGATCACCA	0.632000													22	51					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363565	10363565	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:10363565G>C	ENST00000255381.2	-	13	1331	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	407	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V407V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCCGACCTTGACTCTGGGAT	0.453000													5	80					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1332269	1332269	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1332269C>T	ENST00000303400.4	+	8	1022	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F|MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	320					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGCAGCCGCTCCCTGAACAAG	0.632000													9	43					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045690	193045690	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:193045690G>C	ENST00000432079.1	+	3	604	c.36G>C	c.(34-36)aaG>aaC	p.K12N	TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Missense_Mutation_p.K287N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N			P10155	RO60_HUMAN	TROVE domain family, member 2	287					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCTAGGAAAGATGACTGCTA	0.338000													8	67					0	0	1	0	0
GNB5	0	broad.mit.edu	37	15	52416726	52416726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52416726G>A	ENST00000261837.7	-	12	1185	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*|GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262*	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	374						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGGGAAACTCGTAGAGTGCTA	0.488000													7	121					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100205244	100205244	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:100205244C>T	ENST00000395996.1	+	17	2585	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.A825V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	825					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTCTTCCGCAGTGATTGAA	0.358000													4	38					0	0	1	0	0
FAM92A1	137392	broad.mit.edu	37	8	94740446	94740446	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:94740446G>A	ENST00000518322.1	+	9	932	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	264										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCACTTGTCGACTAAGAAAG	0.279000													6	37					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331678	133331678	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:133331678G>C	ENST00000539605.1	-	1	6721	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L75V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	75						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGGATTCAGAAGTTTCAAT	0.403000													10	97					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19507020	19507020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:19507020G>A	ENST00000338883.4	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	143							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGCTTTCTCGGACTCCAAGA	0.488000													24	84					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73259478	73259478	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:73259478G>A	ENST00000579761.1	+	4	624	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K|MRPS7_ENST00000245539.6_Missense_Mutation_p.E133K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	133					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTCTGCAGAGGAACAGGCAAC	0.522000													48	425					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148344650	148344650	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:148344650C>T	ENST00000369202.1	-	3	465	c.268G>A	c.(268-270)Gag>Aag	p.E90K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E90K					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CTGAGCTCCTCAGCTTGCTTG	0.517000													9	397					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981730	6981730	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6981730G>T	ENST00000519357.1	-	2	522	c.336C>A	c.(334-336)ctC>ctA	p.L112L	SPSB2_ENST00000523102.1_Silent_p.L112L|SPSB2_ENST00000524270.1_Silent_p.L112L			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	112	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCAGCGGGGCGAGGGCCGTGG	0.687000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	82					5.4927e-09	5.9436e-09	1	1	0
PRKAR1A	5573	broad.mit.edu	37	17	66526119	66526119	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:66526119G>T	ENST00000589228.1	+	10	1078	c.950G>T	c.(949-951)aGa>aTa	p.R317I	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	317					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAAGTGGGAAGATTGGGGCCT	0.383000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				11	88					2.27111e-07	2.4214e-07	1	1	0
SOAT1	6646	broad.mit.edu	37	1	179320591	179320591	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:179320591G>A	ENST00000367619.3	+	15	1733	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	SOAT1_ENST00000539888.1_Silent_p.L465L|SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000535686.1_Silent_p.L266L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	530					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ACTGTCCTCTGAAAAATGTGA	0.438000													13	126					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058076	48058076	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:48058076G>A	ENST00000316364.5	+	14	1877	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	480	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTGCAGTGCTGAGAATGAGGA	0.423000													13	81					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121570869	121570869	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:121570869C>T	ENST00000546057.1	+	1	239	c.96C>T	c.(94-96)ttC>ttT	p.F32F	P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	32						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAAGTGGTTCTTCCACGTGA	0.527000													10	139					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303366	151303366	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:151303366C>T	ENST00000370323.4	-	4	1043	c.727G>A	c.(727-729)Gag>Aag	p.E243K	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	243	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCTCCTCAGGGGTGCAG	0.512000													12	95					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955901	113955901	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:113955901C>T	ENST00000482457.2	-	1	524	c.21G>A	c.(19-21)ggG>ggA	p.G7G		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	7						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGTCCCCAACCCATCGCGTT	0.527000													9	94					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52696199	52696199	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:52696199C>T	ENST00000356770.4	-	4	480	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E160K			Q86U86	PB1_HUMAN	polybromo 1	160			E -> A (found in a malignant melanoma cell line).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.E160*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCATCTTCGTCATCTGCT	0.453000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								28	172					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095660	178095660	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095660G>C	ENST00000397062.3	-	5	2225	c.1671C>G	c.(1669-1671)ctC>ctG	p.L557L	NFE2L2_ENST00000464747.1_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L|NFE2L2_ENST00000397063.4_Silent_p.L541L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	557					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATAAGGTGCTGAGTTGTTTTT	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			8	93					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607449	42607449	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42607449G>C	ENST00000359486.3	-	1	3999	c.3863C>G	c.(3862-3864)tCa>tGa	p.S1288*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTTCTTTTGATGAGTGAAG	0.438000													16	86					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422324	124422324	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:124422324C>T	ENST00000545135.1	-	3	3522	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T|CCDC92_ENST00000238156.3_Missense_Mutation_p.A93T			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	93										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCAGTTGGGCTTCCAGCTCT	0.443000													10	156					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328522	88328522	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:88328522G>C	ENST00000325089.6	+	2	1098	c.879G>C	c.(877-879)gaG>gaC	p.E293D	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	293						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGACTACGAGATGAGGCCGC	0.537000													15	95					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102272784	102272784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:102272784G>T	ENST00000398136.2	-	3	731	c.311C>A	c.(310-312)tCa>tAa	p.S104*	TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85*	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	104	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CATATTTGTTGAGACCATCCC	0.438000													19	180					2.94398e-08	3.16206e-08	1	1	0
ESRP1	54845	broad.mit.edu	37	8	95676969	95676969	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:95676969G>A	ENST00000433389.2	+	7	879	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	230	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCAGGGCACGAGGTTTACCA	0.383000													8	50					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245077	33245077	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:33245077G>C	ENST00000373477.4	-	12	2290	c.1382C>G	c.(1381-1383)tCt>tGt	p.S461C	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	461	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ACCAGGAGCAGAGCCTGCCGG	0.527000													8	66					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306709	5306709	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:5306709G>A	ENST00000274181.7	+	21	3417	c.3279G>A	c.(3277-3279)aaG>aaA	p.K1093K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1093	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTCAAAGAAGTGCTCAC	0.522000													8	52					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34960012	34960012	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:34960012C>A	ENST00000439527.2	+	17	2019	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V	UBA2_ENST00000246548.4_Silent_p.V603V|UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000592791.1_Silent_p.V129V			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	603					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGCCGACGTCAGTGAAGAAG	0.393000													4	35					1	1	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34372195	34372195	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:34372195C>G	ENST00000297625.7	-	2	870	c.645G>C	c.(643-645)tgG>tgC	p.W215C		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	249					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCGTGCTGTTCCAGCCCAGGT	0.687000													6	17					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45455856	45455856	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45455856G>A	ENST00000321429.4	+	33	4782	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1459					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCAGCTGGCTGAGAAGTTCGA	0.577000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	149					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171533727	171533727	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:171533727C>G	ENST00000176763.5	-	6	1028	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	229	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCCATCTCAATCAGCGTG	0.597000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	63					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145567979	145567979	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:145567979G>C	ENST00000296575.3	+	1	807	c.152G>C	c.(151-153)aGa>aCa	p.R51T	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	51	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGAAAAGGAGAGACAGGAGG	0.582000													6	43					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389101	20389101	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:20389101G>T	ENST00000315915.4	+	1	361	c.336G>T	c.(334-336)atG>atT	p.M112I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGGGAGATGGTGCTACTTG	0.428000													11	252					7.03913e-09	7.57926e-09	1	1	0
ORC3	23595	broad.mit.edu	37	6	88317395	88317395	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88317395G>C	ENST00000392844.3	+	6	480	c.432G>C	c.(430-432)atG>atC	p.M144I	ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.M91I|ORC3_ENST00000257789.4_Missense_Mutation_p.M144I|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	144					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCACAGATATGAAACATTTTT	0.338000													4	31					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108412181	108412181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:108412181C>A	ENST00000263054.6	-	18	2441	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	812	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTCCTTGTTCCGCTGTCAGC	0.522000													10	58					4.68919e-08	5.02413e-08	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215852431	215852431	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:215852431C>G	ENST00000272895.7	-	27	4135	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1306					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTCTTCTCAGGCTTCACC	0.458000													9	27					0	0	1	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231625	29231625	+	RNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:29231625G>C	ENST00000441381.1	+	0	96																											ACCAACATCTGTGGGACTATA	0.403000													37	178					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930400	46930400	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46930400G>C	ENST00000264318.3	-	9	2489	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	503					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGGAGGAGGAGTAGCTGAC	0.463000													8	114					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74707950	74707950	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74707950C>T	ENST00000261980.2	+	2	526	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	146					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACCAAGAAACGGAAGAAGCG	0.587000													7	50					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56492817	56492817	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:56492817G>A	ENST00000584437.1	-	1	2077	c.122C>T	c.(121-123)tCa>tTa	p.S41L	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S41L|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L			Q68DV7	RNF43_HUMAN	ring finger protein 43	41						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.S41*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTTCTGCTGATCTTTCAGA	0.537000													6	75					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107398927	107398927	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:107398927C>G	ENST00000008527.5	-	3	1234	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	123	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACAATGACTTCTACTCCAGCT	0.348000													8	61					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42266526	42266526	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42266526G>A	ENST00000319511.6	+	2	762	c.112G>A	c.(112-114)Gta>Ata	p.V38I	TMUB2_ENST00000587989.1_Missense_Mutation_p.V58I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCTACCTACGTAGCAGACAG	0.587000													16	133					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1234625	1234625	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1234625G>C	ENST00000590083.1	-	6	864	c.572C>G	c.(571-573)tCa>tGa	p.S191*	C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*|C19orf26_ENST00000382477.2_Nonsense_Mutation_p.S211*			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	211						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGGCTGAGCTGGCCTC	0.672000										HNSCC(14;0.022)			8	11					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375292	8375292	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:8375292G>C	ENST00000538603.1	-	7	1079	c.521C>G	c.(520-522)tCt>tGt	p.S174C	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S174C	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	174							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GCCCCTGTCAGACATTTCGGT	0.572000													5	95					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990855	140990855	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:140990855A>G	ENST00000389484.3	-	91	14671	c.13700T>C	c.(13699-13701)aTg>aCg	p.M4567T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4567					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCCCATCCATATATAATTT	0.323000										TSP Lung(27;0.18)			4	26					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416648	187416648	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:187416648C>T	ENST00000358241.1	-	2	744	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	106					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ATGCTGGACTCGTCCAGCCGC	0.652000													3	29					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563262	1563262	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:1563262C>G	ENST00000572621.1	-	30	5084	c.4819G>C	c.(4819-4821)Gag>Cag	p.E1607Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1607						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTACTGTCTCAATTTCCAGT	0.403000													6	73					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73850728	73850728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:73850728G>C	ENST00000334126.7	-	4	855	c.629C>G	c.(628-630)tCa>tGa	p.S210*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	210						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGAGGCCTTGATGGAACCTG	0.438000													25	170					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805761	27805761	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:27805761C>T	ENST00000330180.2	-	1	356	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	119					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTCAGTTTTCTTAGGCAGCA	0.552000													10	156					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665330	90665330	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:90665330C>G	ENST00000371927.3	+	3	1119	c.161C>G	c.(160-162)tCt>tGt	p.S54C	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S54C			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	54							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TACTTTAGGTCTGGAGTAGAG	0.408000													14	53					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106034391	106034391	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:106034391G>A	ENST00000255499.2	+	6	1330	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	RNF128_ENST00000324342.3_Silent_p.E334E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	360						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATCGCAGCGAGACCGCATCAT	0.448000													14	189					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229640	74229640	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:74229640C>T	ENST00000316292.9	-	1	1101	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	37						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408000													5	60					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117090319	117090319	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	437	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592000			T	IGH@	MLCLS								6	56					0	0	1	0	0
GUCD1	83606	broad.mit.edu	37	22	24944010	24944010	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:24944010C>G	ENST00000435822.1	-	3	484	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	GUCD1_ENST00000407471.3_Missense_Mutation_p.E54Q|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q	NM_031444.2	NP_113632.2			guanylyl cyclase domain containing 1																		AGGGCTCTCTCAAACTCACTG	0.602000													5	58					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843128	57843128	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:57843128C>T	ENST00000264230.4	-	1	1861	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	208							GTP binding										GCCGCCGCAACGCGGCGCTCA	0.731000													5	38					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697661	36697661	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:36697661C>A	ENST00000216181.5	-	21	2780	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	850					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTCCTCCTTGGCCATCA	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0.00136819	0.00140701	1	1	0
F8	2157	broad.mit.edu	37	X	154197759	154197759	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:154197759G>A	ENST00000360256.4	-	7	1056	c.856C>T	c.(856-858)Cac>Tac	p.H286Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	286	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATATTGAGTGCACTTCAGGA	0.453000													29	97					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921999	103921999	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103921999C>T	ENST00000405356.1	+	13	2338	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000605788.1_Silent_p.V691V|NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.V410V			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	691					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTCCAGGTCAATTCTATTA	0.507000													32	208					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111963105	111963105	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111963105G>C	ENST00000377617.3	-	6	1228	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	356					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGATAGCAGAGTCAGTAAA	0.428000													7	78					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56347166	56347166	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56347166G>T	ENST00000331886.5	+	23	2550	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	699				G -> V (in Ref. 1; CAA44396).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.G699V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAATTGACGGAGAACCCTGG	0.468000													25	372					5.61819e-17	6.18712e-17	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317227	30317227	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:30317227G>T	ENST00000375377.1	-	3	1951	c.1850C>A	c.(1849-1851)cCg>cAg	p.P617Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	617										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCAGAGCCGGGCTCTTATC	0.493000													26	38					3.01185e-09	3.26722e-09	1	1	0
GNG5	2787	broad.mit.edu	37	1	84967543	84967543	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:84967543G>C	ENST00000370641.3	-	2	665	c.192C>G	c.(190-192)gtC>gtG	p.V64V	GNG5_ENST00000370645.4_Silent_p.V64V|GNG5_ENST00000487806.1_5'UTR			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	64					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AAAAGGAACAGACTTTCTGGG	0.388000													6	49					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57180017	57180017	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:57180017C>T	ENST00000535318.2	+	16	1684	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000537605.1_Silent_p.I339I|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Silent_p.I441I			Q96FN4	CPNE2_HUMAN	copine II	441	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTCCTCATCATCACGGACG	0.612000													3	15					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33450944	33450944	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:33450944A>C	ENST00000283629.3	-	6	1234	c.705T>G	c.(703-705)ttT>ttG	p.F235L	UBP1_ENST00000447368.2_Missense_Mutation_p.F235L|UBP1_ENST00000283628.5_Missense_Mutation_p.F235L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	235					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCTTACCTTAAAAACTTTGA	0.408000													12	54					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59132892	59132892	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:59132892C>T	ENST00000472487.1	-	16	1888	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	617	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GGTTCTGCTGCACAGACCTAT	0.378000													5	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323322	31323322	+	Silent	SNP	G	G	A	rs115529590	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:31323322G>A	ENST00000542188.1	-	22	3355	c.3042C>T	c.(3040-3042)gtC>gtT	p.V1014V	TRPM1_ENST00000397795.2_Silent_p.V975V|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.V997V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	975					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATGAGCACGACCAGCATGA	0.512000													11	56					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7660535	7660535	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7660535C>T	ENST00000572933.1	+	13	3491	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	DNAH2_ENST00000389173.2_Silent_p.L677L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	677	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCTGCTACTCGTTGCTAGAG	0.493000													27	227					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515420	24515420	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:24515420C>T	ENST00000357578.3	+	5	897	c.752C>T	c.(751-753)tCa>tTa	p.S251L	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	251					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGGATTCCTTCAGGTGTATAC	0.378000													6	68					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14490983	14490983	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:14490983C>G	ENST00000249923.3	-	15	2164	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	622					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGTGAACATTCAGACAAGACC	0.388000													4	59					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7695897	7695897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:7695897G>A	ENST00000338316.4	+	6	991	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	301					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCTTTACCCGGCTGGCAAGT	0.413000													17	26					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723537	48723537	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48723537C>T	ENST00000335017.1	+	1	775	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	155	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCGGAGCTCCCGGAGGCGCCG	0.711000													6	11					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64913964	64913964	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:64913964C>T	ENST00000231524.9	-	2	571	c.200G>A	c.(199-201)gGa>gAa	p.G67E	TRIM23_ENST00000381018.3_Missense_Mutation_p.G67E|TRIM23_ENST00000274327.7_Missense_Mutation_p.G67E	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	67					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GATTGCTCTTCCATGAAGAGG	0.413000													4	55					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35561242	35561242	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35561242G>A	ENST00000455600.1	+	12	4983	c.4414G>A	c.(4414-4416)Gac>Aac	p.D1472N		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1472	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCACAAAGGAGACATCCTACG	0.652000													8	80					0	0	1	0	0
HDGFRP3	0	broad.mit.edu	37	15	83826306	83826306	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:83826306G>A	ENST00000299633.4	-	4	923	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		107					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGTTTCTGAAGAGCTCTGTTG	0.348000													6	22					0	0	1	0	0
FKBP1B	2281	broad.mit.edu	37	2	24285898	24285898	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24285898C>G	ENST00000380991.4	+	4	357	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	FKBP1B_ENST00000452109.1_Intron|FKBP1B_ENST00000380986.4_Intron			P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	0	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGTCCTCTTTCTCCTCT	0.488000													4	24					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75883653	75883653	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:75883653C>T	ENST00000355264.4	-	9	1483	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	391	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CATGTCCAAACGGTTTACTTT	0.353000													18	68					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789788	133789788	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:133789788G>T	ENST00000321016.8	-	18	4062	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1278	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGTGGCCAGAGTGGTGAAG	0.677000													5	30					0.000602214	0.000623722	1	1	0
F9	2158	broad.mit.edu	37	X	138630629	138630629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:138630629C>T	ENST00000218099.2	+	5	506	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	F9_ENST00000394090.2_Nonsense_Mutation_p.Q129*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	167	EGF-like 2.		Q -> H (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGCAGAAAACCAGAAGTCCTG	0.348000													5	55					0	0	1	0	0
EIF1	10209	broad.mit.edu	37	17	39846029	39846029	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:39846029G>C	ENST00000469257.1	+	2	177		c.e2-1		JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site|EIF1_ENST00000310837.4_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTTTTTTCAGACCCCTTTGC	0.483000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	55					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803866	27803866	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27803866G>C	ENST00000408964.2	+	1	4478	c.4427G>C	c.(4426-4428)aGa>aCa	p.R1476T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1476										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTGAGAACTGTTCAA	0.473000													18	139					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845724	52845724	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:52845724G>C	ENST00000252252.3	-	1	186	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	47	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCGCCACCCAGGCCACCACTG	0.667000													5	242					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191844515	191844515	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:191844515G>T	ENST00000361099.3	-	20	2097	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L570L|STAT1_ENST00000392322.3_Silent_p.L570L|STAT1_ENST00000392323.2_Silent_p.L572L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	570					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCAGAGAGGGAGCAGGTGTT	0.388000													4	28					0.00909568	0.00922289	1	1	0
SERHL2	253190	broad.mit.edu	37	22	42968533	42968533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42968533G>T	ENST00000327678.5	+	11	925	c.823G>T	c.(823-825)Gag>Tag	p.E275*	SERHL2_ENST00000340239.4_3'UTR|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95*	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	275						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CACCCTCAAAGAGGTAAGACG	0.527000													5	73					0.014758	0.0149296	1	1	0
MED13L	23389	broad.mit.edu	37	12	116460310	116460310	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116460310G>A	ENST00000281928.3	-	5	782	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	192					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTCCTCATTGATCAAATAAA	0.463000													4	24					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432775	45432775	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45432775C>G	ENST00000361462.2	+	1	1334	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R|FAM179B_ENST00000361577.3_Missense_Mutation_p.P384R			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	384							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAATTTAACCCTAGTTCTACT	0.423000													4	65					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131179290	131179290	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:131179290C>G	ENST00000337057.3	-	19	3185	c.3004G>C	c.(3004-3006)Gaa>Caa	p.E1002Q	EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	1002	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTTCCCCTTCCTCAGCCAAC	0.502000													21	148					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637188	248637188	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248637188C>T	ENST00000359594.2	+	1	562	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAGGAAAATCCTGAGTTTTT	0.522000													4	131					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48189070	48189070	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48189070C>T	ENST00000080059.7	-	11	1180	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	HDAC7_ENST00000427332.2_Missense_Mutation_p.R355Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	355	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGAGCGAGTCCGGCTCAGTGG	0.677000													20	41					0	0	1	0	0
CROCCP3	0	broad.mit.edu	37	1	16795169	16795170	+	RNA	INS	-	-	TG	rs142896042	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:16795169_16795170insTG	ENST00000263511.4	-	0	4128_4129					NR_023386.1																						TTGAAGGTGACTGGTCACACCA	0.460													3	3	---	---	---	---					
RP11-473A10.2	0	broad.mit.edu	37	1	18045853	18045871	+	RNA	DEL	GGGGGCTGGATATGTTGCT	GGGGGCTGGATATGTTGCT	-	rs138408148		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:18045853_18045871delGGGGGCTGGATATGTTGCT	ENST00000430540.1	+	0	219																											tggctgagccgggGGCTGGATATGTTGCTGGGAGGAACA	0.580													3	3	---	---	---	---					
ZSWIM5	57643	broad.mit.edu	37	1	45553866	45553867	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:45553866_45553867delAG	ENST00000359600.5	-	2	843_844	c.638_639delCT	c.(637-639)tfs	p.S213fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	213							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGCTGGTTCAGAGGCAGTGGC	0.421													7	61	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143179972	143179972	+	RNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:143179972delG	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							gaagttaaaagggtgtttgtt	0.393													2	4	---	---	---	---					
AC007682.1	0	broad.mit.edu	37	2	52489916	52489917	+	RNA	DEL	GC	GC	-	rs4635561	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:52489916_52489917delGC	ENST00000440698.1	+	0	879																											gtgtgtgtgtgcgtgtCTCAGC	0.520													2	4	---	---	---	---					
NCKIPSD	51517	broad.mit.edu	37	3	48720447	48720448	+	Splice_Site	INS	-	-	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:48720447_48720448insG	ENST00000294129.2	-	2	291		c.e2-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	p.?(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGGCCCTGGGGGGGGCAG	0.619													2	4	---	---	---	---					
RP11-696N14.1	0	broad.mit.edu	37	4	100026988	100026988	+	RNA	DEL	A	A	-	rs35565607		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:100026988delA	ENST00000500358.2	+	0	428					NR_037884.1																						taagactgccacctctttagg	0.448													5	1	---	---	---	---					
CTC-467M3.1	0	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													2	4	---	---	---	---					
POLR2J4	0	broad.mit.edu	37	7	44018551	44018554	+	RNA	DEL	TGAA	TGAA	-	rs10605646	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44018551_44018554delTGAA	ENST00000427076.1	-	0	894					NR_003655.2																						agtgagtgagtgaatgaatgaatg	0.500													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100365264	100365265	+	RNA	INS	-	-	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100365264_100365265insT	ENST00000542585.1	+	0	5008				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			tgcacggctaattttttttttc	0.535													2	4	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610355	128610356	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:128610355_128610356delAA	ENST00000393245.1	-	20	2919_2920	c.2546_2547delTT	c.(2545-2547)tfs	p.F849fs	TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.F815fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	815					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCCGTAATTCAAAGTCTTCTTC	0.455													49	177	---	---	---	---					
AC068580.7	0	broad.mit.edu	37	11	1798832	1798832	+	RNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:1798832delG	ENST00000449749.1	-	0	93																											GGATCATTGAGGGCTGAGCTG	0.627													2	4	---	---	---	---					
RP11-64D24.2	0	broad.mit.edu	37	11	114128386	114128387	+	RNA	DEL	AC	AC	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:114128386_114128387delAC	ENST00000544925.1	-	0	56																											CAACTCCCCGacacacacacac	0.599													3	3	---	---	---	---					
RP11-474D1.3	0	broad.mit.edu	37	12	130527609	130527614	+	RNA	DEL	TACCCA	TACCCA	-	rs12426767		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:130527609_130527614delTACCCA	ENST00000567788.1	-	0	1139				RP11-474D1.4_ENST00000561864.1_lincRNA																							tgcatacatttacccatacctacacg	0.442													2	4	---	---	---	---					
RP11-159L20.2	0	broad.mit.edu	37	14	31272283	31272284	+	RNA	INS	-	-	ATGT	rs60675498	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:31272283_31272284insATGT	ENST00000554665.1	-	0	208																											TCCATTGCAGCgtgtgtgtgtg	0.475													2	4	---	---	---	---					
RP11-472N19.3	0	broad.mit.edu	37	14	92725548	92725548	+	RNA	DEL	C	C	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:92725548delC	ENST00000553537.1	-	0	134																											aggtgaacctccAGCCACATC	0.592													2	4	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25432666	25432666	+	RNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:25432666delG	ENST00000424208.1	+	0	761					NR_003305.1																						TGTGTGTGGTGGGGGGTGCCC	0.552													9	483	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25479907	25479908	+	RNA	INS	-	-	T	rs75602507	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:25479907_25479908insT	ENST00000453082.2	+	0	1934					NR_003343.1																						AGGAGGGTGGGTTTTTGGGAAT	0.574													4	3	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755523	45755525	+	RNA	DEL	CAC	CAC	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45755523_45755525delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA																							ccatcaccatcaccaccaccacc	0.581													4	6	---	---	---	---					
RP11-718O11.1	0	broad.mit.edu	37	15	45998661	45998662	+	RNA	DEL	TT	TT	-	rs34610092		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45998661_45998662delTT	ENST00000560705.1	+	0	212																											ATTCTACCTCtttttttttttt	0.436													3	6	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													4	9	---	---	---	---					
RP11-445F12.1	0	broad.mit.edu	37	17	35223502	35223502	+	RNA	DEL	T	T	-	rs35954827		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35223502delT	ENST00000528383.1	-	0	98																											ggctcccccctggtctccttc	0.448													7	1	---	---	---	---					
RP11-595B24.1	0	broad.mit.edu	37	18	19617701	19617702	+	RNA	INS	-	-	C	rs151134792	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:19617701_19617702insC	ENST00000584898.1	+	0	39																											gagttccagtgctttgcattct	0.371													3	3	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843240	54843241	+	RNA	DEL	CT	CT	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:54843240_54843241delCT	ENST00000507363.1	-	0	430																											GGGAGGCCTCCTCTCCCAGGAG	0.629													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29588566	29588566	+	RNA	DEL	A	A	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:29588566delA	ENST00000432067.1	-	0	152																											tttgtattttattgagaattt	0.323													4	6	---	---	---	---					
RP5-1043L13.1	0	broad.mit.edu	37	20	58889680	58889687	+	RNA	DEL	ATCCTCCT	ATCCTCCT	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:58889680_58889687delATCCTCCT	ENST00000432910.1	+	0	332					NR_046099.1																						cctcccatccatcctcctatccatccat	0.548													2	4	---	---	---	---					
RP13-152O15.5	0	broad.mit.edu	37	20	62688200	62688200	+	RNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:62688200delG	ENST00000455524.1	+	0	45																											GACGCCTGTTGGGGCCAGGGC	0.652													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11042864	11042867	+	RNA	DEL	AGTA	AGTA	-	rs56773804		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11042864_11042867delAGTA	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caatattaatagtaagtaagctta	0.358													4	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11062731	11062732	+	RNA	INS	-	-	AA	rs71303621		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11062731_11062732insAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actttttttttaaatttattat	0.460													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11066883	11066884	+	RNA	INS	-	-	AA	rs147216020		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11066883_11066884insAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGAATCCATAATACTCTCAG	0.366													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11093133	11093134	+	RNA	INS	-	-	A	rs141935972		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11093133_11093134insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTCTCCCCTACCCCCCACAA	0.401													2	4	---	---	---	---					
