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
STRC	161497	broad.mit.edu	37	15	43893725	43893725	+	Missense_Mutation	SNP	G	G	C	rs147990592		TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:43893725G>C	ENST00000450892.2	-	24	4647	c.4570C>G	c.(4570-4572)Cgt>Ggt	p.R1524G	STRC_ENST00000541030.1_Missense_Mutation_p.R751G	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1524					sensory perception of sound	cell surface		p.R1524G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCTCAGGACGAAATCCCCGG	0.532000													5	73					0	0	0.001984	0	0
SOCS4	122809	broad.mit.edu	37	14	55510343	55510343	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr14:55510343C>T	ENST00000395472.2	+	2	916	c.584C>T	c.(583-585)cCc>cTc	p.P195L	SOCS4_ENST00000555846.1_Missense_Mutation_p.P195L|SOCS4_ENST00000339298.2_Missense_Mutation_p.P195L	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	195					intracellular signal transduction|negative regulation of signal transduction|regulation of growth			p.P195L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AATGTTCAGCCCTGTGTCATA	0.398000													24	96					0	0	0.003330	0	0
COL19A1	1310	broad.mit.edu	37	6	70637868	70637868	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr6:70637868G>A	ENST00000322773.4	+	5	436	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	112	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.A112T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACGAAGAAACGCCAAAAAGGA	0.428000													35	63					0	0	0.002836	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364731	6364731	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr17:6364731G>A	ENST00000262483.8	-	18	2539	c.2452C>T	c.(2452-2454)Cgg>Tgg	p.R818W	ACKR6_ENST00000421306.3_Missense_Mutation_p.R782W|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2												p.R818W(1)									GCCTTCTGCCGCAGCGGGTCA	0.637000													25	53					0	0	0.005443	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696099	48696099	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr17:48696099G>A	ENST00000352832.5	+	31	5781	c.5409G>A	c.(5407-5409)acG>acA	p.T1803T	CACNA1G_ENST00000429973.2_Silent_p.T1819T|CACNA1G_ENST00000360761.4_Silent_p.T1814T|CACNA1G_ENST00000359106.5_Silent_p.T1837T|CACNA1G_ENST00000510115.1_Silent_p.T1803T|CACNA1G_ENST00000358244.5_Silent_p.T1803T|CACNA1G_ENST00000502264.1_Silent_p.T1814T|CACNA1G_ENST00000514717.1_Silent_p.T1780T|CACNA1G_ENST00000507336.1_Silent_p.T1826T|CACNA1G_ENST00000514181.1_Silent_p.T1812T|CACNA1G_ENST00000354983.4_Silent_p.T1803T|CACNA1G_ENST00000442258.2_Silent_p.T1796T|CACNA1G_ENST00000510366.1_Silent_p.T1785T|CACNA1G_ENST00000505165.1_Silent_p.T1837T|CACNA1G_ENST00000507896.1_Silent_p.T1826T|CACNA1G_ENST00000507510.2_Silent_p.T1837T|CACNA1G_ENST00000503485.1_Silent_p.T1803T|CACNA1G_ENST00000515765.1_Silent_p.T1826T|CACNA1G_ENST00000507609.1_Silent_p.T1830T|CACNA1G_ENST00000512389.1_Silent_p.T1826T|CACNA1G_ENST00000514079.1_Silent_p.T1844T|CACNA1G_ENST00000513689.2_Silent_p.T1792T|CACNA1G_ENST00000515165.1_Silent_p.T1837T|CACNA1G_ENST00000513964.1_Silent_p.T1792T|CACNA1G_ENST00000515411.1_Silent_p.T1819T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1837					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.T1837T(2)|p.T1803T(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGTGCTGACGGCCCAGTTCG	0.592000													8	46					0	0	0.004482	0	0
CHRD	8646	broad.mit.edu	37	3	184103862	184103862	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr3:184103862C>T	ENST00000204604.1	+	15	2093	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L	CHRD_ENST00000348986.3_Missense_Mutation_p.P576L|CHRD_ENST00000545352.1_Missense_Mutation_p.P246L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P616L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	616	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.P329L(1)|p.P616L(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCTGGAGCCGGAACTGCTG	0.592000													5	94					0	0	0.001168	0	0
MKI67	4288	broad.mit.edu	37	10	129905598	129905598	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr10:129905598G>A	ENST00000368654.3	-	13	4881	c.4506C>T	c.(4504-4506)gaC>gaT	p.D1502D	MKI67_ENST00000368653.3_Silent_p.D1142D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1502	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.D1502D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTTGGTGTGTCCACTGGGT	0.498000													105	268					0	0	0.003610	0	0
F5	2153	broad.mit.edu	37	1	169510388	169510388	+	Missense_Mutation	SNP	G	G	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:169510388G>T	ENST00000367796.3	-	13	4156	c.3955C>A	c.(3955-3957)Cca>Aca	p.P1319T	F5_ENST00000367797.3_Missense_Mutation_p.P1314T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1314	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1314T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCGAGGGCTGGGGAAAGGTTT	0.493000													125	632					2.51135e-46	7.86163e-46	0.003610	1	0
STRC	161497	broad.mit.edu	37	15	43893702	43893702	+	Silent	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:43893702A>G	ENST00000450892.2	-	24	4670	c.4593T>C	c.(4591-4593)ctT>ctC	p.L1531L	STRC_ENST00000541030.1_Silent_p.L758L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1531					sensory perception of sound	cell surface		p.L1531L(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAGCCTACCAAGCTGCAGGA	0.547000													11	82					0	0	0.001855	0	0
TAF1	6872	broad.mit.edu	37	X	70613945	70613945	+	Missense_Mutation	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chrX:70613945A>G	ENST00000449580.1	+	22	3304	c.3253A>G	c.(3253-3255)Act>Gct	p.T1085A	TAF1_ENST00000423759.1_Missense_Mutation_p.T1106A|TAF1_ENST00000276072.3_Missense_Mutation_p.T1106A|TAF1_ENST00000373790.4_Missense_Mutation_p.T1085A			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1085					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.T1106A(1)|p.T1085A(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTCTTATCAACTGACACAGA	0.383000													4	44					0	0	0.000248	0	0
UPF2	26019	broad.mit.edu	37	10	11985140	11985140	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr10:11985140C>T	ENST00000356352.2	-	16	3675	c.3202G>A	c.(3202-3204)Gga>Aga	p.G1068R	UPF2_ENST00000357604.5_Missense_Mutation_p.G1068R|UPF2_ENST00000397053.2_Missense_Mutation_p.G1068R			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1068	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.G1068R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTTCTTCTCCCTCATCATCA	0.328000													17	113					0	0	0.006122	0	0
LONP1	9361	broad.mit.edu	37	19	5699098	5699098	+	Missense_Mutation	SNP	C	C	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr19:5699098C>A	ENST00000360614.3	-	10	1782	c.1625G>T	c.(1624-1626)cGa>cTa	p.R542L	LONP1_ENST00000540670.2_Missense_Mutation_p.R346L|LONP1_ENST00000593119.1_Missense_Mutation_p.R478L|LONP1_ENST00000590729.1_Missense_Mutation_p.R412L|LONP1_ENST00000585374.1_Missense_Mutation_p.R428L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	542					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.R542L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGTACTCTCGGTTCAGGGC	0.652000													12	39					1.5842e-08	4.7526e-08	0.001855	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25169954	25169954	+	RNA	SNP	T	T	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr13:25169954T>A	ENST00000453498.1	+	0	1201																											TGACAATTGTTCATTTTTCTT	0.294000													8	9					0	0	0.000443	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620341	15620341	+	Missense_Mutation	SNP	G	G	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr17:15620341G>C	ENST00000464847.2	+	5	1856	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	ZNF286A_ENST00000593105.1_Missense_Mutation_p.E425Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E435Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E435Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E435Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E435Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCACACTGGAGAGAAACCCTA	0.388000													13	33					0	0	0.004990	0	0
BCAS1	8537	broad.mit.edu	37	20	52609134	52609134	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr20:52609134C>T	ENST00000371440.3	-	7	1316	c.979G>A	c.(979-981)Gag>Aag	p.E327K	BCAS1_ENST00000434986.2_Missense_Mutation_p.E40K|BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000371435.2_Intron			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GCCTGGATCTCGGATGTCTTC	0.448000													18	161					0	0	0.004990	0	0
MYH8	4626	broad.mit.edu	37	17	10322033	10322033	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr17:10322033C>T	ENST00000403437.2	-	5	534	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	147	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.G147D(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCGCTTTTTGCCTCTGTAGGC	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				4	141					0	0	0.000248	0	0
GALNT7	51809	broad.mit.edu	37	4	174213396	174213396	+	Missense_Mutation	SNP	T	T	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr4:174213396T>C	ENST00000265000.4	+	3	808	c.725T>C	c.(724-726)aTt>aCt	p.I242T	GALNT7_ENST00000512285.1_Missense_Mutation_p.I242T|GALNT7_ENST00000502407.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	242	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I242T(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTAGCAGAAATTGTGTTAATT	0.343000													15	36					0	0	0.003163	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499438	37499438	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr22:37499438G>A	ENST00000381792.2	-	2	160	c.20C>T	c.(19-21)cCc>cTc	p.P7L	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P16L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P7L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P7L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P16L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	16					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.P16L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCCACCTGGGGGGCCTCGGC	0.657000													27	93					0	0	0.001271	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625694	74625694	+	Silent	SNP	T	T	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr17:74625694T>A	ENST00000156626.7	-	2	430	c.231A>T	c.(229-231)gcA>gcT	p.A77A	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	77					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.A77A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCACTGGCTCTGCATAGATGG	0.572000													7	217					0	0	0.001984	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	48					0	0	0.004482	0	0
OSMR	9180	broad.mit.edu	37	5	38885486	38885486	+	Missense_Mutation	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:38885486A>G	ENST00000274276.3	+	6	1141	c.739A>G	c.(739-741)Acc>Gcc	p.T247A	OSMR_ENST00000502536.1_Missense_Mutation_p.T247A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	247					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.T247A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTCTTGTGAAACCGAGGACTT	0.428000													33	68					0	0	0.002445	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													6	298					0	0	0.001168	0	0
REN	5972	broad.mit.edu	37	1	204128652	204128652	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:204128652G>A	ENST00000367195.2	-	5	607	c.564C>T	c.(562-564)gcC>gcT	p.A188A	REN_ENST00000272190.8_Silent_p.A188A			P00797	RENI_HUMAN	renin	188					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	p.A188A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CATCAAACTCGGCCAGCATGA	0.557000													10	63					0	0	0.000443	0	0
OTUD5	55593	broad.mit.edu	37	X	48791832	48791832	+	Missense_Mutation	SNP	C	C	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chrX:48791832C>A	ENST00000156084.4	-	5	1039	c.979G>T	c.(979-981)Gtt>Ttt	p.V327F	OTUD5_ENST00000428668.2_Missense_Mutation_p.V105F|OTUD5_ENST00000376488.3_Missense_Mutation_p.V322F|OTUD5_ENST00000396743.3_Missense_Mutation_p.V322F|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	327	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity	p.V298F(1)|p.V327F(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGGTAGCTAACACGAATGGGT	0.512000													5	85					0.000602214	0.00171721	0.000602	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599486	136599486	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr6:136599486G>A	ENST00000531224.1	-	4	785	c.533C>T	c.(532-534)cCg>cTg	p.P178L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.P178L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P176L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P176L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P178L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P176L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	178					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.P178L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTTTTCAACGGACTCTCTTC	0.418000													30	257					0	0	0.001512	0	0
BCL9L	283149	broad.mit.edu	37	11	118770825	118770825	+	Silent	SNP	T	T	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr11:118770825T>C	ENST00000334801.3	-	7	4171	c.3207A>G	c.(3205-3207)ctA>ctG	p.L1069L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1069	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.L1069L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AAGTGAATGGTAGGCTGGGGT	0.642000													25	76					0	0	0.001061	0	0
AKAP6	9472	broad.mit.edu	37	14	33292074	33292074	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr14:33292074G>A	ENST00000280979.4	+	13	5225	c.5055G>A	c.(5053-5055)gcG>gcA	p.A1685A	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1685	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.A1685A(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGACTCAGCGGCATCTCTAA	0.433000													27	92					0	0	0.001786	0	0
ADCY10	55811	broad.mit.edu	37	1	167798655	167798655	+	Missense_Mutation	SNP	C	C	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:167798655C>G	ENST00000367848.1	-	26	3821	c.3324G>C	c.(3322-3324)aaG>aaC	p.K1108N	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.K1200N|ADCY10_ENST00000545172.1_Missense_Mutation_p.K1047N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1200					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.K1200N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGCCAGCCTCTTCTTCCTAT	0.453000													13	71					0	0	0.002450	0	0
PTPRG	5793	broad.mit.edu	37	3	62254711	62254711	+	Splice_Site	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr3:62254711G>A	ENST00000474889.1	+	20	3253	c.2874_splice	c.e20-1	p.R959_splice	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Splice_Site_p.R930_splice|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	959	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R959Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTTCTGCAGCGAAAATGTGAT	0.363000													5	50					0	0	0.001984	0	0
GANAB	23193	broad.mit.edu	37	11	62397858	62397858	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr11:62397858G>A	ENST00000346178.4	-	13	1587	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GANAB_ENST00000356638.3_Silent_p.C502C|GANAB_ENST00000540933.1_Silent_p.C405C|GANAB_ENST00000534779.1_Silent_p.C410C	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	502					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.C502C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACCTGGCCAGCACCAGCCCT	0.572000													3	43					0	0	0.004672	0	0
DHX30	22907	broad.mit.edu	37	3	47859533	47859533	+	Missense_Mutation	SNP	G	G	A	rs138729543		TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr3:47859533G>A	ENST00000445061.1	+	4	457	c.50G>A	c.(49-51)cGt>cAt	p.R17H	DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000348968.4_5'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	17						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.R17H(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		cacaggcagcgtcagtgcaaa	0.607000													27	87					0	0	0.002445	0	0
GARS	2617	broad.mit.edu	37	7	30639610	30639610	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr7:30639610G>A	ENST00000389266.3	+	3	613	c.372G>A	c.(370-372)atG>atA	p.M124I		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	124					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.M124I(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GAGCAAAAATGGAAGATACCC	0.408000													28	177					0	0	0.002445	0	0
P2RY1	5028	broad.mit.edu	37	3	152553609	152553609	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr3:152553609C>T	ENST00000305097.3	+	1	874	c.38C>T	c.(37-39)aCg>aTg	p.T13M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	13					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T13M(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CCCAACGGGACGGACGCTGCC	0.692000													4	32					0	0	0.000248	0	0
BLCAP	10904	broad.mit.edu	37	20	36147457	36147457	+	Silent	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr20:36147457C>T	ENST00000414542.2	-	3	567	c.120G>A	c.(118-120)cgG>cgA	p.R40R	BLCAP_ENST00000373537.2_Silent_p.R40R|BLCAP_ENST00000397134.1_Silent_p.R40R|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397135.1_Silent_p.R40R|BLCAP_ENST00000397137.1_Silent_p.R40R|BLCAP_ENST00000397131.1_Silent_p.R40R	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	40					apoptosis|cell cycle	integral to membrane		p.R40R(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				TGCAAGGCTTCCGTTCCAGGA	0.567000													5	28					0	0	0.000602	0	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652000													5	116					0	0	0.000673	0	0
RFX3	5991	broad.mit.edu	37	9	3247924	3247924	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr9:3247924G>A	ENST00000302303.1	-	16	2387	c.2076C>T	c.(2074-2076)gtC>gtT	p.V692V	RFX3_ENST00000382004.3_Intron|RFX3_ENST00000358730.2_Silent_p.V692V	NM_002919.2	NP_002910.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	0					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.V692V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ctctgaggctgacttggttag	0.373000													9	102					0	0	0.000443	0	0
MKRN1	23608	broad.mit.edu	37	7	140154416	140154416	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr7:140154416C>T	ENST00000255977.2	-	8	1574	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	MKRN1_ENST00000474576.1_Missense_Mutation_p.M386I|MKRN1_ENST00000437223.2_Missense_Mutation_p.M184I	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	450							ligase activity|nucleic acid binding|protein binding|zinc ion binding	p.M450I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CAGCCAAAAGCATAAGCAACA	0.463000													19	77					0	0	0.001216	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798770	140798770	+	Silent	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:140798770C>T	ENST00000398594.2	+	1	1344	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1												p.N448N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATGACAACGCGCCGGTTT	0.572000													14	28					0	0	0.001855	0	0
ZNF506	440515	broad.mit.edu	37	19	19905881	19905881	+	Missense_Mutation	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr19:19905881A>G	ENST00000443905.2	-	4	962	c.815T>C	c.(814-816)cTt>cCt	p.L272P	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.L272P|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.L240P|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.L272P(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATGTGAAAAAAGGGTTGCAGG	0.373000													3	56					0	0	0.000248	0	0
PSMA3	5684	broad.mit.edu	37	14	58727695	58727695	+	Missense_Mutation	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr14:58727695A>G	ENST00000216455.4	+	6	524	c.434A>G	c.(433-435)gAc>gGc	p.D145G	PSMA3_ENST00000412908.2_Missense_Mutation_p.D138G|PSMA3_ENST00000557508.1_Missense_Mutation_p.D70G	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	145					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	p.D145G(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AGTGTGAATGACGGTGCGCAA	0.313000													3	99					0	0	0.004672	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	92					0	0	0.000602	0	0
CNOT4	4850	broad.mit.edu	37	7	135048808	135048808	+	Missense_Mutation	SNP	A	A	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr7:135048808A>C	ENST00000541284.1	-	11	1968	c.1638T>G	c.(1636-1638)agT>agG	p.S546R	CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.S543R	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	226					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S546R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTCTACAGAACTGCTGTTGT	0.383000													12	270					0	0	0.001855	0	0
FAM83C	128876	broad.mit.edu	37	20	33876276	33876276	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr20:33876276G>A	ENST00000374408.3	-	3	890	c.794C>T	c.(793-795)gCg>gTg	p.A265V		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	265								p.A265V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTAACTGCCCGCCACCACTTG	0.637000													19	41					0	0	0.001882	0	0
NFKB1	4790	broad.mit.edu	37	4	103498166	103498166	+	Missense_Mutation	SNP	G	G	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr4:103498166G>C	ENST00000226574.4	+	7	1008	c.541G>C	c.(541-543)Gca>Cca	p.A181P	NFKB1_ENST00000394820.4_Missense_Mutation_p.A180P|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.A180P	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	180	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A181P(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTATTTGCAAGCAGAAGGTGG	0.483000													29	72					0	0	0.001786	0	0
GPX7	2882	broad.mit.edu	37	1	53072531	53072531	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:53072531G>A	ENST00000361314.4	+	2	352	c.314G>A	c.(313-315)cGc>cAc	p.R105H	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	105					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.R105H(1)|p.R105L(1)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	AGCTTTGCCCGCCGCACCTAC	0.572000													7	102					0	0	0.001984	0	0
GPC4	2239	broad.mit.edu	37	X	132439841	132439841	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chrX:132439841C>T	ENST00000370828.3	-	6	1638	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	GPC4_ENST00000535467.1_Missense_Mutation_p.E302K	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	372					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.E372K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTGGGCGTTCCTCGGGGTGA	0.552000													29	301					0	0	0.001512	0	0
NAV1	89796	broad.mit.edu	37	1	201751334	201751334	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:201751334G>A	ENST00000367296.4	+	6	2114	c.1694G>A	c.(1693-1695)gGt>gAt	p.G565D	NAV1_ENST00000367302.1_Missense_Mutation_p.G578D|NAV1_ENST00000295624.6_Missense_Mutation_p.G565D|NAV1_ENST00000367297.4_Missense_Mutation_p.G565D|NAV1_ENST00000367300.3_Missense_Mutation_p.G565D|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.G174D	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	565					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.G565D(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACAGACAAGGGTAAGCTTGCA	0.527000													28	159					0	0	0.001786	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464636	30464636	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr8:30464636C>T	ENST00000355904.4	-	6	863	c.581G>A	c.(580-582)cGt>cAt	p.R194H	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	194					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	p.R194H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTATCGGGACGATTTACAAA	0.303000													23	91					0	0	0.004656	0	0
DUOX1	53905	broad.mit.edu	37	15	45424180	45424180	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:45424180G>A	ENST00000321429.4	+	3	423	c.16G>A	c.(16-18)Gct>Act	p.A6T	DUOX1_ENST00000389037.3_Missense_Mutation_p.A6T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	6					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	p.A6T(1)		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)		CTTCTGCCTGGCTCTAGCATG	0.517000													10	254					0	0	0.000673	0	0
VPS13B	157680	broad.mit.edu	37	8	100866351	100866351	+	Silent	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr8:100866351C>T	ENST00000358544.2	+	56	10920	c.10809C>T	c.(10807-10809)ctC>ctT	p.L3603L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3578L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3603					protein transport			p.L3578L(1)|p.L3603L(1)		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)			ACGCTTCCCTCAAGCTGTACA	0.547000													63	51					0	0	0.003610	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	47					0	0	0.004482	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996170	19996170	+	Silent	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr18:19996170C>T	ENST00000391403.2	-	1	1708	c.1605G>A	c.(1603-1605)ccG>ccA	p.P535P		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	535						integral to membrane		p.P535P(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCTGATGGTCCGGAGGATTCC	0.552000													4	115					0	0	0.000248	0	0
ZNF208	7757	broad.mit.edu	37	19	22154452	22154452	+	Silent	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373000													3	107					0	0	0.004672	0	0
LTBP2	4053	broad.mit.edu	37	14	75017917	75017917	+	Silent	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr14:75017917C>T	ENST00000261978.4	-	7	1922	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Silent_p.P512P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701000													9	22					0	0	0.004482	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657788	72657788	+	RNA	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr7:72657788A>G	ENST00000425256.1	-	0	2123					NR_002164.1																						cagttttgctaggaacacccg	0.483000													60	306					0	0	0.003610	0	0
KLHL9	55958	broad.mit.edu	37	9	21334730	21334730	+	Silent	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr9:21334730A>G	ENST00000359039.4	-	1	649	c.129T>C	c.(127-129)ctT>ctC	p.L43L	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	43					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.L43L(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CTTCTATTCTAAGCTGATCAA	0.468000													42	48					0	0	0.001951	0	0
ERAP2	64167	broad.mit.edu	37	5	96253168	96253168	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:96253168G>A	ENST00000437043.3	+	19	3453	c.2742G>A	c.(2740-2742)gtG>gtA	p.V914V	ERAP2_ENST00000379904.4_Silent_p.V869V|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	914					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.V914V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTTTACAGGTGAAACTATTTT	0.398000													25	48					0	0	0.003954	0	0
DNAH8	1769	broad.mit.edu	37	6	38919259	38919259	+	Silent	SNP	C	C	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr6:38919259C>A	ENST00000359357.3	+	80	12017	c.11763C>A	c.(11761-11763)acC>acA	p.T3921T	DNAH8_ENST00000449981.2_Silent_p.T4138T|DNAH8_ENST00000441566.1_Silent_p.T3885T|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8									p.T3921T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGACCCCACCAATCAAATTG	0.413000													18	492					2.94398e-08	8.7409e-08	0.000958	1	0
CAPN3	825	broad.mit.edu	37	15	42695961	42695961	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:42695961G>A	ENST00000397163.3	+	14	1987	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.V78M|CAPN3_ENST00000357568.3_Missense_Mutation_p.V590M|CAPN3_ENST00000356316.3_Missense_Mutation_p.V503M|CAPN3_ENST00000349748.3_Missense_Mutation_p.V542M|CAPN3_ENST00000318023.7_Missense_Mutation_p.V590M	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	590	Linker.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.V590M(2)|p.V503M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TACCATCTCCGTGGATCGGCC	0.557000													8	155					0	0	0.003080	0	0
AGBL5	60509	broad.mit.edu	37	2	27281274	27281274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr2:27281274C>T	ENST00000360131.4	+	10	1837	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.R560*	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	560					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R560*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGTGGGACGAGCTATGGC	0.582000													16	33					0	0	0.006122	0	0
SNRPN	6638	broad.mit.edu	37	15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:25221477C>T	ENST00000444203.2	+	4	1232	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	61					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428000									Prader-Willi syndrome				22	91					0	0	0.003954	0	0
MYH6	4624	broad.mit.edu	37	14	23870001	23870001	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr14:23870001G>A	ENST00000405093.3	-	13	1397	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	MYH6_ENST00000356287.3_Missense_Mutation_p.R443C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	443	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R443C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGTTGATGCGCGTCACCATC	0.577000													14	101					0	0	0.004007	0	0
KLK3	354	broad.mit.edu	37	19	51361824	51361824	+	Silent	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr19:51361824C>T	ENST00000360617.3	+	4	603	c.603C>T	c.(601-603)cgC>cgT	p.R201R	KLK3_ENST00000326003.2_Silent_p.R201R|KLK3_ENST00000595952.1_Silent_p.R158R|KLK3_ENST00000597483.1_Silent_p.R158R|KLK3_ENST00000593997.1_Silent_p.R201R			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	201	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.R201R(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GTGCTGGACGCTGGACAGGGG	0.527000													48	39					0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:167095768G>A	ENST00000361200.2	+	6	1566	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R467H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652000													4	26					0	0	0.000248	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													3	42					0	0	0.000248	0	0
RBM27	54439	broad.mit.edu	37	5	145649137	145649137	+	Missense_Mutation	SNP	C	C	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:145649137C>A	ENST00000265271.5	+	17	2847	c.2681C>A	c.(2680-2682)aCa>aAa	p.T894K	RBM27_ENST00000506502.1_Missense_Mutation_p.T839K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	894					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.T894K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGTGAAGACAAAAACGGAG	0.353000													23	14					5.45024e-15	1.66986e-14	0.003330	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204419113	204419113	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:204419113G>A	ENST00000367187.3	-	14	2655	c.2099C>T	c.(2098-2100)cCt>cTt	p.P700L	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.P700L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	700					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.P700L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGTCTCCCGAGGCAGCCGGTT	0.617000													7	6					0	0	0.001984	0	0
CRABP2	1382	broad.mit.edu	37	1	156670345	156670345	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:156670345C>T	ENST00000368222.3	-	3	509	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CRABP2_ENST00000368221.1_Missense_Mutation_p.E119K	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	119					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	p.E119K(1)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGGATCAGTTCCCCATCGTTG	0.537000													21	108					0	0	0.003330	0	0
LYN	4067	broad.mit.edu	37	8	56910924	56910924	+	Missense_Mutation	SNP	A	A	G			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr8:56910924A>G	ENST00000520220.2	+	11	1281	c.1007A>G	c.(1006-1008)tAc>tGc	p.Y336C	LYN_ENST00000519728.1_Missense_Mutation_p.Y357C|LYN_ENST00000420292.1_3'UTR	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	357	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.Y357C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GGAATGGCATACATCGAGCGG	0.458000													4	64					0	0	0.000248	0	0
CA12	771	broad.mit.edu	37	15	63618490	63618490	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr15:63618490G>A	ENST00000178638.3	-	11	1499	c.1059C>T	c.(1057-1059)caC>caT	p.H353H	CA12_ENST00000422263.2_Silent_p.H282H|CA12_ENST00000344366.3_Silent_p.H342H|CA12_ENST00000560666.1_5'UTR	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	353					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.H353H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GACCTCAAGCGTGGGCCTCAG	0.512000													24	94					0	0	0.001061	0	0
CLASP1	23332	broad.mit.edu	37	2	122139812	122139812	+	Missense_Mutation	SNP	T	T	C			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr2:122139812T>C	ENST00000263710.4	-	33	3852	c.3463A>G	c.(3463-3465)Aag>Gag	p.K1155E	CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000541859.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1155					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.K1155E(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTGAGAGCCTTGTGGGAGGGA	0.532000													4	11					0	0	0.000248	0	0
POF1B	79983	broad.mit.edu	37	X	84634283	84634283	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chrX:84634283C>T	ENST00000262753.4	-	2	322	c.177G>A	c.(175-177)atG>atA	p.M59I	POF1B_ENST00000373145.3_Missense_Mutation_p.M59I	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	59							actin binding	p.M59I(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCACCTTGTTCATGGGCCCAC	0.532000													4	47					0	0	0.000248	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056843	120056843	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:120056843C>T	ENST00000235547.6	+	4	842	c.703C>T	c.(703-705)Cac>Tac	p.H235Y	HSD3B1_ENST00000369413.3_Missense_Mutation_p.H233Y|HSD3B1_ENST00000528909.1_Missense_Mutation_p.H233Y	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	233					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.H233Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGCCTGGGCCCACATTCTGGC	0.517000													32	53					0	0	0.003271	0	0
OR4C16	219428	broad.mit.edu	37	11	55340039	55340039	+	Missense_Mutation	SNP	G	G	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr11:55340039G>T	ENST00000314634.3	+	1	436	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A146S(1)		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)				GATGGCTGTGGCCTGGGTGGG	0.498000													66	200					6.2918e-36	1.94843e-35	0.003610	1	0
GPR123	84435	broad.mit.edu	37	10	134942303	134942303	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr10:134942303G>A	ENST00000607359.1	+	16	3128	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	GPR123_ENST00000392606.2_Missense_Mutation_p.R227H|GPR123_ENST00000392607.3_Missense_Mutation_p.R324H			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	324						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R324H(1)|p.R1043H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCCCGCCCCGCAAGGACGCC	0.726000													7	27					0	0	0.001984	0	0
FLT1	2321	broad.mit.edu	37	13	28964125	28964125	+	Missense_Mutation	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr13:28964125G>A	ENST00000282397.4	-	13	2028	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	FLT1_ENST00000541932.1_Missense_Mutation_p.R593W	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	593	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R593W(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTAACTGTCCGCAGTAAAATC	0.393000													5	116					0	0	0.000602	0	0
SKIL	6498	broad.mit.edu	37	3	170078422	170078422	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr3:170078422G>A	ENST00000458537.3	+	1	1012	c.303G>A	c.(301-303)ctG>ctA	p.L101L	SKIL_ENST00000413427.2_Silent_p.L101L|SKIL_ENST00000259119.4_Silent_p.L101L|SKIL_ENST00000426052.2_Silent_p.L81L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	101					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.L101L(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAGCTCGCTGGGTGGACCAG	0.463000													59	214					0	0	0.003610	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573236	106573236	+	RNA	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr14:106573236C>T	ENST00000390601.2	-	0	467																											CTGTGTCTCTCGCACAGTAAT	0.602000													10	263					0	0	0.001855	0	0
RFPL1	5988	broad.mit.edu	37	22	29837625	29837625	+	Silent	SNP	G	G	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr22:29837625G>A	ENST00000354373.2	+	2	677	c.468G>A	c.(466-468)cgG>cgA	p.R156R	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	156	B30.2/SPRY.						zinc ion binding	p.R156R(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CACAGAATCGGCAAGACCTTG	0.557000													4	81					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													5	82					0	0	0.003080	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625383	140625383	+	Silent	SNP	G	G	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:140625383G>T	ENST00000231173.3	+	1	237	c.237G>T	c.(235-237)ctG>ctT	p.L79L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		79	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L79L(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTTGATCTGCAGACCGGGC	0.537000													19	41					1.33834e-09	4.05727e-09	0.000958	1	0
SLC12A7	10723	broad.mit.edu	37	5	1083938	1083938	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:1083938C>T	ENST00000264930.5	-	8	1094	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	351					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.A351T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCGTCACAGGCGGCGCTGGGC	0.647000													15	42					0	0	0.002450	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649009	54649009	+	Missense_Mutation	SNP	C	C	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr5:54649009C>T	ENST00000230640.5	+	14	1699	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.T381M	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	482	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.T482M(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTATTTGCCACGGAGACCTTT	0.318000													8	157					0	0	0.000978	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186960	26186960	+	RNA	DEL	T	T	-			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:26186960delT	ENST00000455431.1	+	0	263																											AATTTTGTAATTTTTTTTTTT	0.552													2	4	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													3	5	---	---	---	---					
CCDC88A	55704	broad.mit.edu	37	2	55555500	55555501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr2:55555500_55555501insT	ENST00000436346.1	-	17	3767_3768	c.2926_2927insA	c.(2926-2928)tgcfs	p.C976fs	CCDC88A_ENST00000263630.8_Frame_Shift_Ins_p.C976fs|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Ins_p.C975fs|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Ins_p.C975fs|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	976					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAAAGCAGCAATTTTTTCTTCT	0.307													14	26	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39261568	39261570	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr13:39261568_39261570delGCT	ENST00000280481.7	+	1	303_305	c.87_89delGCT	c.(85-90)cgg>cg	p.RL29del		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	29					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGCCGCCCCGgctgctgctgctg	0.695													2	4	---	---	---	---					
LOC100130950	100130950	broad.mit.edu	37	17	5096765	5096766	+	RNA	INS	-	-	A			TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chr17:5096765_5096766insA	ENST00000571689.1	+	0	60				RP11-333E1.1_ENST00000575601.1_RNA	NR_034082.1																						ctcaaaaaaataaaaaaaaaaa	0.510													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-71-6725-01A-11D-1855-08	TCGA-71-6725-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a146eb4-7b9b-4834-b3d0-eac80f9173ec	056f3049-18f0-4c6b-8681-f4b11908fb53	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	3	---	---	---	---					
