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
XIRP2	129446	broad.mit.edu	37	2	168105298	168105298	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:168105298G>A	ENST00000409195.1	+	9	7485	c.7396G>A	c.(7396-7398)Gta>Ata	p.V2466I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2466I|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2244I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2291					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGAAAAAAGTAATGGTGAT	0.363000													6	68					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34105190	34105190	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:34105190G>A	ENST00000389232.4	+	73	10454	c.10384G>A	c.(10384-10386)Gaa>Aaa	p.E3462K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3457K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3462					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCACCTGGAACAGGTAAG	0.507000													7	63					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71152389	71152389	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:71152389G>T	ENST00000377311.3	-	2	351	c.299C>A	c.(298-300)gCt>gAt	p.A100D		NM_153237.1	NP_694969.1			transmembrane protein 252																		CTCTTCATAAGCTGGAGGGTA	0.512000													5	35					2.0095e-06	2.05911e-06	1	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951871	130951871	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:130951871C>T	ENST00000312988.7	-	4	644	c.544G>A	c.(544-546)Gtg>Atg	p.V182M		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	182					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TAGGGCTCCACCACGGCTGTG	0.542000													10	35					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109477475	109477475	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:109477475G>C	ENST00000369971.2	-	11	1602	c.1473C>G	c.(1471-1473)agC>agG	p.S491R	CLCC1_ENST00000302500.4_Missense_Mutation_p.S370R|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.S441R|CLCC1_ENST00000369968.2_Missense_Mutation_p.S306R|CLCC1_ENST00000369969.2_Missense_Mutation_p.S370R|CLCC1_ENST00000369970.3_Missense_Mutation_p.S441R|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.S491R|CLCC1_ENST00000348264.2_Missense_Mutation_p.S306R	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	491						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TGGCCGACTGGCTGCTTTCAG	0.532000													29	74					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237810	132237810	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:132237810G>A	ENST00000321253.6	+	4	651	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	182					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACAGCCGTGGTGGAGCCCTA	0.552000													27	304					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:40093625G>A	ENST00000299092.3	-	4	1451	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGCAGAGGGCGCAAACTGTGG	0.577000													4	142					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034901	96034901	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:96034901A>G	ENST00000369293.1	+	2	720	c.586A>G	c.(586-588)Ata>Gta	p.I196V	MANEA_ENST00000358812.4_Intron			Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	0	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		gtgtctgtatatatgcatatA	0.279000													11	29					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812419	140812419	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140812419C>A	ENST00000252085.3	+	1	2235	c.2093C>A	c.(2092-2094)gCc>gAc	p.A698D	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGCGGTGGCCGCGGTCTCC	0.652000													58	208					7.22619e-39	7.89176e-39	1	1	0
CCNF	899	broad.mit.edu	37	16	2483041	2483041	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:2483041C>T	ENST00000397066.4	+	3	339	c.251C>T	c.(250-252)tCt>tTt	p.S84F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	84					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGTGGCCGTCTCCAGGGAAC	0.592000													7	23					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52860854	52860854	+	Missense_Mutation	SNP	C	C	T	rs148337590		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:52860854C>T	ENST00000266041.4	-	4	568	c.472G>A	c.(472-474)Gag>Aag	p.E158K	ITIH4_ENST00000346281.5_Missense_Mutation_p.E158K|ITIH4_ENST00000485816.1_Missense_Mutation_p.E158K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E158K|ITIH4_ENST00000434759.3_Missense_Mutation_p.E70K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	158					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCAGCAGCTCGTACACCCCC	0.602000													4	64					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188247925	188247925	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:188247925C>G	ENST00000409998.1	-	6	940	c.159G>C	c.(157-159)atG>atC	p.M53I	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.M53I|CALCRL_ENST00000410068.1_Missense_Mutation_p.M53I|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	53						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGGGGTCTTGCATAATCTTTT	0.333000													4	73					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56167859	56167859	+	Splice_Site	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:56167859G>T	ENST00000399503.3	+	7	1423		c.e7+1			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGTCAATTTGTATGTGGCTC	0.438000													14	46					4.3838e-07	4.51994e-07	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5772856	5772856	+	Silent	SNP	A	A	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:5772856A>C	ENST00000328090.5	+	11	1519	c.894A>C	c.(892-894)ggA>ggC	p.G298G	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	298																	GTGATGCTGGATTTTCCTTAG	0.408000													33	98					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533757	155533757	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:155533757C>T	ENST00000404648.3	-	1	244	c.5G>A	c.(4-6)aGt>aAt	p.S2N	FGG_ENST00000336098.3_Missense_Mutation_p.S2N|FGG_ENST00000407946.1_Missense_Mutation_p.S2N|FGG_ENST00000405164.1_Missense_Mutation_p.S2N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	2					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAGGACCAACTCATGATGTC	0.473000													12	32					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939126	14939126	+	Silent	SNP	C	C	T	rs137983126	by1000genomes	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:14939126C>T	ENST00000285046.5	+	5	2969	c.2859C>T	c.(2857-2859)caC>caT	p.H953H	FGD5_ENST00000543601.1_Silent_p.H712H|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	953	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGCCATCCACGACCTTCATC	0.582000													3	9					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51829611	51829611	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:51829611G>A	ENST00000371733.3	-	23	2382	c.2286C>T	c.(2284-2286)gtC>gtT	p.V762V	EPS15_ENST00000396122.4_Silent_p.V439V|EPS15_ENST00000371730.2_Silent_p.V628V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	762	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTCACTTTTGACCGATGTTT	0.438000			T	MLL	ALL								18	52					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900872	51900872	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:51900872C>T	ENST00000268919.4	+	1	634	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	160					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGAGCAGCGGGAAAAGCG	0.552000													38	80					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96652499	96652499	+	Splice_Site	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:96652499C>G	ENST00000456556.1	-	3	570	c.486_splice	c.e3+1	p.E162_splice						ankyrin repeat domain 36C									p.E162E(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGACCTATACCTCGCTGCATT	0.338000													6	16					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492394	78492394	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:78492394C>T	ENST00000377211.4	-	2	737	c.585G>A	c.(583-585)acG>acA	p.T195T	EDNRB_ENST00000334286.5_Silent_p.T105T|EDNRB_ENST00000446573.1_Silent_p.T105T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGGACACAACCGTGTTGATGT	0.522000													12	52					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55254030	55254030	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:55254030T>C	ENST00000337526.6	-	3	1448	c.1205A>G	c.(1204-1206)gAt>gGt	p.D402G	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.D196G|RTN4_ENST00000405240.1_Missense_Mutation_p.D196G|RTN4_ENST00000394611.2_Missense_Mutation_p.D196G|RTN4_ENST00000357376.3_Missense_Mutation_p.D196G|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.D170G	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	402					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATATCACTATCTTCCTTACT	0.393000													36	142					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859647	132859647	+	RNA	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:132859647G>A	ENST00000434551.1	+	0	219					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TGATTGCGTCGCTGGCCTGTG	0.493000													14	30					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962046	34962046	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:34962046C>T	ENST00000329357.5	+	1	1134	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	366										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTTGTGAGGGCCAGGAGATGA	0.547000													25	13					0	0	1	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033541	100033541	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:100033541C>T	ENST00000292330.2	-	2	571	c.381G>A	c.(379-381)gcG>gcA	p.A127A	PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	127																	CCACGGCCTTCGCAGCATCAA	0.706000													3	22					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74670662	74670662	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:74670662C>T	ENST00000541184.1	-	3	804	c.327G>A	c.(325-327)ccG>ccA	p.P109P	ZDHHC15_ENST00000373367.3_Silent_p.P118P|ZDHHC15_ENST00000373361.3_Silent_p.P118P	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	118						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TTGTGTAAACCGGTAGCTTTT	0.453000													9	29					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233651923	233651923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:233651923C>G	ENST00000373566.3	+	10	859	c.662C>G	c.(661-663)tCa>tGa	p.S221*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	199	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTATACGCTCAGAAAGTGAA	0.423000													19	70					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17062109	17062109	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:17062109C>T	ENST00000395811.5	+	14	1928	c.1839C>T	c.(1837-1839)cgC>cgT	p.R613R	MPRIP_ENST00000341712.4_Silent_p.R613R|MPRIP_ENST00000444976.1_Silent_p.R575R|MPRIP_ENST00000395804.3_Silent_p.R613R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	613	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGCCCTGCGCATGGAGGTGG	0.662000													56	49					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409159	28409159	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:28409159C>A	ENST00000337532.5	-	11	1127	c.851G>T	c.(850-852)aGg>aTg	p.R284M	MPP7_ENST00000375732.1_Missense_Mutation_p.R284M|MPP7_ENST00000540098.1_Missense_Mutation_p.R284M|MPP7_ENST00000445954.2_Missense_Mutation_p.R159M|MPP7_ENST00000375719.3_Missense_Mutation_p.R284M	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	284	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAAGCCTGCCCTGGGGTTGGC	0.458000													16	58					4.75885e-15	5.09657e-15	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67160169	67160169	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:67160169C>T	ENST00000371036.3	+	14	1194	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R341C|SGIP1_ENST00000237247.6_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	540	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTGAAAGGCGCTGTGAAAC	0.393000													5	13					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77629164	77629164	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:77629164G>A	ENST00000461745.1	+	16	3295	c.2395G>A	c.(2395-2397)Gta>Ata	p.V799I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V799I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V815I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	799	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATTCGGTCCGTAATAATTGG	0.433000													11	44					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25745697	25745697	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:25745697C>T	ENST00000357816.2	-	2	536	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	AMER2_ENST00000515384.1_Missense_Mutation_p.A21T|AMER2_ENST00000381853.3_Missense_Mutation_p.A21T					APC membrane recruitment protein 2																		CCCACGGACGCGCCAGCTCCG	0.726000													4	7					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1198837	1198837	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:1198837G>A	ENST00000333813.3	+	2	779	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	147					response to biotic stimulus	integral to membrane		p.R147H(1)|p.R147L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTGGGCCGCCTGGCTCGG	0.622000													29	195					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917661	32917661	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:32917661T>G	ENST00000261332.6	-	4	821	c.642A>C	c.(640-642)gaA>gaC	p.E214D	ZNF24_ENST00000399061.3_Missense_Mutation_p.E214D|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	214					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGCCAGGAACTTCATGGGATT	0.403000													36	89					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144400209	144400209	+	Silent	SNP	G	G	A	rs34884995	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr8:144400209G>A	ENST00000523676.1	-	10	1305	c.900C>T	c.(898-900)gaC>gaT	p.D300D	TOP1MT_ENST00000519148.1_Silent_p.D300D|TOP1MT_ENST00000329245.4_Silent_p.D398D|TOP1MT_ENST00000521193.1_Silent_p.D300D			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	398					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGAAGAGGTCGTCCCGGGGGT	0.572000													25	59					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122145946	122145946	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:122145946C>T	ENST00000344337.6	-	14	1679	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	501					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CGAAGTAATGCTCAATAAGAT	0.423000													22	39					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139202177	139202177	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:139202177G>A	ENST00000423192.1	+	14	1910	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q	ECT2L_ENST00000367682.2_Silent_p.Q583Q|ECT2L_ENST00000541398.1_Silent_p.Q514Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	583	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AATACGTGCAGATACTGGAAA	0.423000			"""N, Splice, Mis"""		ETP ALL								16	36					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108017	46108017	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:46108017A>G	ENST00000321037.4	+	2	927	c.697A>G	c.(697-699)Atc>Gtc	p.I233V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	233						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TCTTAATGTGATCATTACAAG	0.378000													4	85					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936738	15936738	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:15936738C>T	ENST00000504595.1	+	4	1400	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	307					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTACCTGCGCCGCTGCGTCCG	0.647000													10	35					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347680	89347680	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:89347680G>A	ENST00000301030.4	-	9	5730	c.5270C>T	c.(5269-5271)tCc>tTc	p.S1757F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1757F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1757						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGGAGGGGGAGCAGGCGCT	0.652000													24	90					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													5	172					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													4	103					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456182	76456182	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr8:76456182C>T	ENST00000396423.2	+	2	349	c.225C>T	c.(223-225)cgC>cgT	p.R75R	HNF4G_ENST00000354370.1_Silent_p.R38R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	38					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTTCAGACGCAGCATTCGTA	0.448000													22	75					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884004	153884004	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:153884004T>A	ENST00000511601.1	+	7	1077	c.889T>A	c.(889-891)Ttg>Atg	p.L297M	FHDC1_ENST00000260008.3_Missense_Mutation_p.L297M			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	297	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AATATTACACTTGGTGCTCCA	0.368000													6	37					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640553	99640553	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:99640553A>T	ENST00000547776.2	-	13	1845	c.1846T>A	c.(1846-1848)Tgt>Agt	p.C616S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.C196S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C616S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	616						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGGACTCACAGGCTGGAGAG	0.458000													4	203					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30638178	30638178	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:30638178C>T	ENST00000263063.3	-	1	70	c.27G>A	c.(25-27)ttG>ttA	p.L9L	MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	9					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCAAACGGGTCAAGAGCCCCA	0.527000													7	29					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176918380	176918380	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:176918380G>A	ENST00000367654.2	-	12	2032	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	ASTN1_ENST00000424564.2_Silent_p.L665L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L665L|ASTN1_ENST00000361833.2_Silent_p.L665L			O14525	ASTN1_HUMAN	astrotactin 1	673	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATCTGCTGGAGGCACAGCT	0.612000											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	81					0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:134851619C>T	ENST00000424142.1	-	4	655	c.53G>A	c.(52-54)cGc>cAc	p.R18H	C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000393114.3_Missense_Mutation_p.R73H	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	73						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552000													4	78					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	31					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56818648	56818648	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:56818648T>C	ENST00000229201.4	-	15	1917	c.1763A>G	c.(1762-1764)gAg>gGg	p.E588G	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E589G	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	589					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CACTGGCACCTCTGAGGCCGC	0.577000													4	135					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445606	150445606	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:150445606C>T	ENST00000401000.4	+	10	4169	c.4104C>T	c.(4102-4104)agC>agT	p.S1368S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S1394S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1394	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCAACAGCAGCAGTGGCCCCC	0.617000													16	75					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49200836	49200836	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:49200836C>T	ENST00000321895.6	-	2	912	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	269										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTTTCATTCGCCGGACACT	0.632000													17	67					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95923584	95923584	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:95923584A>G	ENST00000334258.5	-	4	733	c.719T>C	c.(718-720)gTg>gCg	p.V240A	SYNE3_ENST00000553340.1_Missense_Mutation_p.V240A|SYNE3_ENST00000557275.1_Missense_Mutation_p.V240A	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CACCTTCTCCACCACCGCCTT	0.617000													47	152					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880094	121880094	+	Silent	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:121880094G>T	ENST00000377069.4	-	18	3349	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.P1050P|KDM2B_ENST00000542973.1_Silent_p.P418P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1050					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTCAGGCGGGGGGCTGATGG	0.677000													12	22					0.0167234	0.0168247	1	1	0
PGLYRP1	8993	broad.mit.edu	37	19	46522516	46522516	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:46522516G>A	ENST00000008938.4	-	3	614	c.571C>T	c.(571-573)Cca>Tca	p.P191S	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	191					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGGTAGTGTGGCCAATTCTGG	0.572000													11	38					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704529	29704529	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:29704529G>A	ENST00000471961.1	+	1	1482	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	GAS2L1_ENST00000360113.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R145Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R145Q			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	145	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GAGGTGGCGCGGCGTGGGGCA	0.677000													8	12					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3614477	3614477	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:3614477T>A	ENST00000429344.2	-	7	1325	c.1273A>T	c.(1273-1275)Atc>Ttc	p.I425F	CACTIN_ENST00000221899.3_Missense_Mutation_p.I357F|CACTIN_ENST00000248420.5_Missense_Mutation_p.I425F	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CCAGCGCGGATTTTGCCCTCG	0.632000													4	14					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301921	139301921	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:139301921C>A	ENST00000298537.7	-	4	637	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E92D|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.E165D	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	165						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTGTCGGATCCTCGAAAAATG	0.607000													7	21					0.0293803	0.0293803	1	1	0
PAK2	5062	broad.mit.edu	37	3	196509524	196509524	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:196509524G>C	ENST00000327134.3	+	2	329	c.7G>C	c.(7-9)Gat>Cat	p.D3H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	3					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATCATGTCTGATAACGGAGA	0.403000													13	149					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874911	23874911	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:23874911C>A	ENST00000405093.3	-	4	340	c.270G>T	c.(268-270)atG>atT	p.M90I	MYH6_ENST00000356287.3_Missense_Mutation_p.M90I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	90	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			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)		TCAGCATGGCCATGTCCTCAA	0.577000													22	93					2.89027e-11	3.01751e-11	1	1	0
AFF3	3899	broad.mit.edu	37	2	100185340	100185340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:100185340G>A	ENST00000317233.4	-	18	3191	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.R1011*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.R986*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.R1011*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	986					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTTCATTCGTTTAGCTTCT	0.378000													22	118					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30638812	30638812	+	Splice_Site	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:30638812C>T	ENST00000376442.3	-	2	642		c.e2+1			NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16						mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TTCTGACTTACCCTGTTTTCT	0.512000													47	152					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51206184	51206184	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:51206184T>A	ENST00000245441.5	-	26	5660	c.5470A>T	c.(5470-5472)Act>Tct	p.T1824S	NIN_ENST00000530997.2_Missense_Mutation_p.T1824S|NIN_ENST00000453196.1_Missense_Mutation_p.T1824S|NIN_ENST00000389868.3_Missense_Mutation_p.T1111S|NIN_ENST00000382041.3_Missense_Mutation_p.T1824S|NIN_ENST00000382043.4_Missense_Mutation_p.T1111S|NIN_ENST00000324330.9_Missense_Mutation_p.T1824S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1824					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GATGGATGAGTAGCTATCTCT	0.458000			T	PDGFRB	MPD								23	73					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202248909	202248909	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:202248909G>A	ENST00000332624.3	-	15	2422	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	665				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTTGTGCACGACAGGCACTT	0.423000													15	64					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	42					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169546595	169546595	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:169546595A>T	ENST00000340806.6	+	2	1069	c.1069A>T	c.(1069-1071)Aca>Tca	p.T357S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	357								p.T357P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTTGGACTAACAGGAAATGA	0.368000													19	75					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210014234	210014234	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:210014234C>G	ENST00000491415.2	+	8	1376	c.1319C>G	c.(1318-1320)gCc>gGc	p.A440G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	440					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CGACTCTATGCCCCGTTTTAC	0.473000													13	84					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373679	86373679	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:86373679A>C	ENST00000604798.1	-	8	2029	c.825T>G	c.(823-825)ttT>ttG	p.F275L	MGAT4C_ENST00000549405.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F304L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	275					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACATTAATAAAAAATGGGCCA	0.388000													8	61					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579359	7579359	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:7579359G>A	ENST00000420246.2	-	4	460	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	TP53_ENST00000269305.4_Missense_Mutation_p.R110C|TP53_ENST00000445888.2_Missense_Mutation_p.R110C|TP53_ENST00000455263.2_Missense_Mutation_p.R110C|TP53_ENST00000413465.2_Missense_Mutation_p.R110C|TP53_ENST00000359597.4_Missense_Mutation_p.R110C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110fs*13(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGCCCAGACGGAAACCGTAG	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	136					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55929437	55929437	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:55929437G>C	ENST00000389286.4	-	15	2601	c.2554C>G	c.(2554-2556)Cgc>Ggc	p.R852G		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	852	Fibronectin type-III 5.				multicellular organismal development	integral to membrane		p.R852S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATAGTATAGCGGGTCACAACT	0.473000													13	139					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41149144	41149144	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:41149144G>T	ENST00000344051.4	+	11	1795	c.1561G>T	c.(1561-1563)Gtc>Ttc	p.V521F	SPINT1_ENST00000431806.1_Missense_Mutation_p.V505F|SPINT1_ENST00000562057.1_Missense_Mutation_p.V505F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	521						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGCACCTGGTCTATAACCA	0.622000													23	185					5.45024e-15	5.79961e-15	1	1	0
ARSI	340075	broad.mit.edu	37	5	149677718	149677718	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:149677718T>A	ENST00000328668.7	-	2	1348	c.769A>T	c.(769-771)Aat>Tat	p.N257Y		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	257						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCACATTGCCCATGGTG	0.612000													19	34					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40566440	40566440	+	Missense_Mutation	SNP	G	G	A	rs143844489		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:40566440G>A	ENST00000560346.1	+	10	2424	c.1841G>A	c.(1840-1842)cGg>cAg	p.R614Q	PAK6_ENST00000453867.1_Missense_Mutation_p.R614Q|PAK6_ENST00000542403.2_Missense_Mutation_p.R614Q|PAK6_ENST00000441369.1_Missense_Mutation_p.R614Q|PAK6_ENST00000260404.4_Missense_Mutation_p.R614Q|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_3'UTR			Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	614	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGAGGCTCCGGGACAGCCCC	0.577000											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	104					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529944	140529944	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140529944G>A	ENST00000231136.1	+	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		36	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCGTATTGGAGGAGACAGA	0.498000													16	122					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111745	140111745	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:140111745C>T	ENST00000275874.5	+	4	612	c.414C>T	c.(412-414)caC>caT	p.H138H	RAB19_ENST00000537763.1_Silent_p.H91H|RAB19_ENST00000356407.3_Silent_p.H91H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	91					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GCAGTGCCCACGCAGCCATCA	0.562000													6	114					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227257552	227257552	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:227257552T>C	ENST00000366769.3	-	21	4121	c.2830A>G	c.(2830-2832)Ata>Gta	p.I944V	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I944V|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I863V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I944V|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I944V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	944					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGGTGCTCTATACCTAGAAGA	0.358000													3	20					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600958	80600958	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:80600958A>G	ENST00000254037.2	+	1	3537	c.382A>G	c.(382-384)Atg>Gtg	p.M128V	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.M128V|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.M128V|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.M128V|ZCCHC9_ENST00000506458.1_Intron			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	128							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GAAAAATGCAATGGTGAGAGC	0.373000													6	52					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71649996	71649996	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:71649996G>A	ENST00000409544.1	+	22	3982	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1118N|ZNF638_ENST00000409407.1_Missense_Mutation_p.D58N	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1118	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AACAGCAACTGATAGTCCCTC	0.383000													21	66					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50297857	50297857	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:50297857G>T	ENST00000330817.5	-	9	1481	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	403					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAACCGAGACACACCTGT	0.652000													10	40					0.000673444	0.000681657	1	1	0
BAP1	8314	broad.mit.edu	37	3	52437163	52437163	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:52437163G>A	ENST00000460680.1	-	14	2352	c.1881C>T	c.(1879-1881)taC>taT	p.Y627Y	BAP1_ENST00000296288.5_Silent_p.Y609Y	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	627	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Y627*(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTTGGGTGAGTATTTCTCCC	0.582000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							5	37					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6167791	6167791	+	Missense_Mutation	SNP	G	G	A	rs148207995	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:6167791G>A	ENST00000264870.3	-	13	2073	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	603					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A603G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGCAGGGACGCTTGTTCCAG	0.522000													10	33					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61067677	61067677	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:61067677G>A	ENST00000301764.7	-	27	3751	c.3354C>T	c.(3352-3354)agC>agT	p.S1118S	DDB1_ENST00000451943.2_Silent_p.S105S|DDB1_ENST00000450997.2_Silent_p.S429S|DDB1_ENST00000538470.1_Silent_p.S165S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1118	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTTCATACCGCTGCCATCGT	0.602000								Nucleotide excision repair (NER)					11	25					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900349	4900349	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:4900349C>T	ENST00000404991.1	-	1	1276	c.1090G>A	c.(1090-1092)Gct>Act	p.A364T	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	364					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGCTTGGAGCTTCAAAGAGT	0.403000													23	85					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51477888	51477888	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:51477888G>A	ENST00000335891.5	-	5	416	c.407C>T	c.(406-408)gCc>gTc	p.A136V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	136					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCCTCTCGGGCCCATTTGAA	0.383000													3	21					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	34998834	34998834	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:34998834C>T	ENST00000231420.6	-	14	1735	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	512					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TTACTTAGCTCTTCTTTCCAT	0.388000													6	37					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99099025	99099025	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:99099025T>C	ENST00000376586.2	+	27	3439	c.3103T>C	c.(3103-3105)Tcc>Ccc	p.S1035P	FARP1_ENST00000595437.1_Missense_Mutation_p.S1035P|FARP1_ENST00000319562.6_Missense_Mutation_p.S1004P			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1004					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCACTTCAAGTCCCACGTCTA	0.577000													10	111					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32051466	32051466	+	Silent	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:32051466C>G	ENST00000271064.7	+	10	1282	c.1206C>G	c.(1204-1206)gtC>gtG	p.V402V	TINAGL1_ENST00000457433.2_Silent_p.V371V|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	402					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCCACTCAGTCAAGATCACAG	0.587000													4	10					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456763	25456763	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:25456763T>C	ENST00000278886.6	-	17	3237	c.3164A>G	c.(3163-3165)aAg>aGg	p.K1055R	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1055					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CATGTCATCCTTCTCTCTCTC	0.542000													53	65					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497257	52497257	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:52497257G>A	ENST00000602063.1	-	6	1421	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	ZNF615_ENST00000598071.1_Missense_Mutation_p.R369C|ZNF615_ENST00000391795.3_Missense_Mutation_p.R363C|ZNF615_ENST00000376716.5_Missense_Mutation_p.R358C|ZNF615_ENST00000594083.1_Missense_Mutation_p.R369C			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGTAAGACGCCTCTTCTCA	0.388000													20	58					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543531	141543531	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:141543531G>A	ENST00000442267.2	-	21	3693	c.3619C>T	c.(3619-3621)Cgg>Tgg	p.R1207W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1207						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCCCAGTCCCGGTCCAGGCTG	0.647000													5	25					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681978	69681978	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:69681978A>G	ENST00000265403.7	+	1	268	c.241A>G	c.(241-243)Act>Gct	p.T81A	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T81A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	81					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACATCTTTAACTAAAACTGA	0.343000													33	69					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452930	64452930	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:64452930C>T	ENST00000394323.2	-	2	975	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		159						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						actggggaatcggtggaacaa	0.448000													7	77					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134496700	134496700	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:134496700A>G	ENST00000413996.3	-	1	429	c.100T>C	c.(100-102)Ttc>Ctc	p.F34L	SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron	NM_001143678.1	NP_001137150.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTCAGCAGGAAGGACTCGCTC	0.711000													3	3					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198668713	198668713	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:198668713C>T	ENST00000367376.2	+	5	484	c.313C>T	c.(313-315)Cct>Tct	p.P105S	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P107S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	105					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P105T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTACAGACGCCTCACCTTCC	0.512000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	116					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	46					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825535	21825535	+	RNA	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:21825535C>A	ENST00000426869.3	+	0	239					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ggggaagcagcgcggcatccc	0.627000													25	68					2.61193e-14	2.76166e-14	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963630	73963630	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:73963630G>A	ENST00000373468.1	-	3	1413	c.762C>T	c.(760-762)tcC>tcT	p.S254S	KIAA2022_ENST00000055682.5_Silent_p.S254S			Q5QGS0	K2022_HUMAN	KIAA2022	254					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATCCTGATTGGAATTTGCAA	0.403000													4	78					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620068	28620068	+	Missense_Mutation	SNP	G	G	A	rs148045936	byFrequency	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:28620068G>A	ENST00000395609.1	-	4	867	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SULT1A1_ENST00000395607.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37W			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	37			R -> Q.		3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TCATCAGGCCGGGCCTGGAAG	0.652000													19	77					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845169	50845169	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:50845169C>T	ENST00000359139.3	+	4	673	c.279C>T	c.(277-279)agC>agT	p.S93S	PPP6R2_ENST00000395741.3_Silent_p.S93S|PPP6R2_ENST00000216061.5_Silent_p.S93S|PPP6R2_ENST00000395744.3_Silent_p.S93S	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	93						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGCAGATCAGCGACCGCCTCG	0.537000													123	101					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204016213	204016213	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:204016213C>G	ENST00000449802.1	+	34	5734	c.5401C>G	c.(5401-5403)Cta>Gta	p.L1801V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1801							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCACTGGAAGCTAGCTAATGT	0.323000													8	20					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766662	27766662	+	Silent	SNP	T	T	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:27766662T>C	ENST00000451261.2	+	5	2049	c.1650T>C	c.(1648-1650)ctT>ctC	p.L550L		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCACTGAGCTTACTGGGTTAA	0.498000													4	5					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:62295516G>T	ENST00000378024.4	-	5	6647	c.6373C>A	c.(6373-6375)Cac>Aac	p.H2125N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2125					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522000													89	262					2.41118e-28	2.61606e-28	1	1	0
EIF4G2	1982	broad.mit.edu	37	11	10825846	10825846	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:10825846C>G	ENST00000526148.1	-	6	981	c.471G>C	c.(469-471)caG>caC	p.Q157H	EIF4G2_ENST00000339995.5_Missense_Mutation_p.Q157H|EIF4G2_ENST00000396525.2_Missense_Mutation_p.Q157H|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Q157H	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	157	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCTTTGCTTCTGTCCTGGTT	0.413000													4	146					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169557876	169557876	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:169557876A>T	ENST00000316428.5	-	9	1610	c.1553T>A	c.(1552-1554)aTa>aAa	p.I518K	LRRC31_ENST00000264676.5_Missense_Mutation_p.I462K|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	518										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTCATTCCTATCTCAGTGAT	0.408000													28	39					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603673	140603673	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:140603673C>G	ENST00000239449.4	+	1	596	c.596C>G	c.(595-597)gCt>gGt	p.A199G	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A46G	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		199	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGATAGAGCTTTAGATTAT	0.443000													19	72					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230365	155230365	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:155230365G>A	ENST00000355379.3	-	2	430	c.152C>T	c.(151-153)cCc>cTc	p.P51L	SCAMP3_ENST00000302631.3_Missense_Mutation_p.P77L	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	77					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGTTCTGTGGGGCTGAGCTT	0.607000													18	64					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427438	148427438	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:148427438C>T	ENST00000515425.1	-	3	367	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGCATGCGCACCTCCTG	0.527000													4	148					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48124481	48124481	+	Silent	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:48124481G>C	ENST00000244043.4	-	10	1508	c.1479C>G	c.(1477-1479)ccC>ccG	p.P493P	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	493					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTAGCGGACGGGCACGTCGT	0.622000													18	57					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													6	86					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93428702	93428702	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr14:93428702C>T	ENST00000267615.6	-	7	675	c.502G>A	c.(502-504)Gag>Aag	p.E168K	ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	168	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCACTCACCTCGTGAGAGTTG	0.537000													5	38					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761057	241761057	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:241761057C>T	ENST00000366554.2	-	3	1042	c.936G>A	c.(934-936)atG>atA	p.M312I	OPN3_ENST00000331838.5_Missense_Mutation_p.M233I|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	312					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCTTTCTGATCATGAAGACAT	0.383000													4	82					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17432128	17432128	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:17432128G>A	ENST00000302539.4	-	22	2757	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W	ABCC8_ENST00000389817.3_Missense_Mutation_p.R877W	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	877	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTGTCGTCCCGGAGCAGCTCA	0.577000													36	109					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187538955	187538955	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr4:187538955C>A	ENST00000441802.2	-	10	8994	c.8785G>T	c.(8785-8787)Gag>Tag	p.E2929*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2929	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGGTCATCCTCACTCACAGTC	0.468000										HNSCC(5;0.00058)			15	60					1.05317e-09	1.09266e-09	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr13:29599206C>T	ENST00000431530.3	+	1	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	124						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502000													24	83					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720279	14720279	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:14720279A>T	ENST00000380911.3	-	2	657	c.613T>A	c.(613-615)Tcc>Acc	p.S205T		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	205	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGAGAGCAGGAGGTATGGGAG	0.517000													17	66					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62656015	62656015	+	Silent	SNP	C	C	T	rs143862119		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:62656015C>T	ENST00000377892.1	+	13	2060	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	SLC3A2_ENST00000377891.2_Silent_p.S582S|SLC3A2_ENST00000536981.1_Silent_p.S126S|SLC3A2_ENST00000377890.2_Silent_p.S581S|SLC3A2_ENST00000338663.7_Silent_p.S480S|SLC3A2_ENST00000377889.2_Silent_p.S519S|SLC3A2_ENST00000535296.1_Silent_p.S550S			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	581				E -> G (in Ref. 4; AAA35536).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGCAGGCCTCCGACCTGCCTG	0.627000													29	132					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105836188	105836188	+	Splice_Site	SNP	C	C	T	rs111607386		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr10:105836188C>T	ENST00000353479.5	-	5	493		c.e5-1		COL17A1_ENST00000393211.3_Splice_Site|COL17A1_ENST00000369733.3_Splice_Site	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1						cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGCTTCCAGCTGCAAGAGGG	0.527000													14	93					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176563	22176563	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:22176563G>A	ENST00000374695.3	-	57	7496	c.7417C>T	c.(7417-7419)Cgc>Tgc	p.R2473C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2473	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGCCCCCGCGCTTGTGCCAC	0.657000													39	154					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487949	24487949	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:24487949G>A	ENST00000264463.4	-	12	2697	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y730Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAAGTGAGTCGTAGGGGGGTG	0.463000										HNSCC(23;0.051)			32	91					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499631	59499631	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:59499631C>T	ENST00000307144.4	+	1	590	c.492C>T	c.(490-492)gcC>gcT	p.A164A	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	164					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GAAATGTGGCCATCTTCAAGT	0.423000													39	115					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	115					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803433	20803433	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:20803433A>T	ENST00000289416.5	+	11	1911	c.1436A>T	c.(1435-1437)gAt>gTt	p.D479V	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.D471V|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	479					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAGCAGATGATGTCATATTA	0.398000													46	108					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124390517	124390517	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr3:124390517G>A	ENST00000360013.3	+	48	6838	c.6711G>A	c.(6709-6711)tcG>tcA	p.S2237S	KALRN_ENST00000459915.1_Silent_p.S329S|KALRN_ENST00000428018.2_Silent_p.S508S|KALRN_ENST00000393496.1_Silent_p.S578S|KALRN_ENST00000291478.4_Silent_p.S540S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2236					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACTGCAATCGCCCATTGAGT	0.532000													4	105					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613849	613849	+	Silent	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:613849T>A	ENST00000397566.1	-	6	1231	c.822A>T	c.(820-822)ccA>ccT	p.P274P	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Silent_p.P232P|IRF7_ENST00000348655.6_Silent_p.P232P|IRF7_ENST00000525445.1_Silent_p.P155P|IRF7_ENST00000397574.2_Silent_p.P261P|IRF7_ENST00000330243.5_Silent_p.P274P	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	261					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGGGACTCTGGGGCCGCGG	0.692000													3	7					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32486771	32486771	+	Silent	SNP	A	A	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chrX:32486771A>T	ENST00000357033.4	-	23	3212	c.3006T>A	c.(3004-3006)acT>acA	p.T1002T	DMD_ENST00000378677.2_Silent_p.T998T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1002					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCTTTCACAGTGGTGCTGA	0.393000													12	7					0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88601258	88601258	+	Silent	SNP	G	G	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr16:88601258G>T	ENST00000319555.3	+	10	3214	c.2892G>T	c.(2890-2892)acG>acT	p.T964T		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	964					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	p.T964T(1)|p.T964fs*39(1)		central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAAGGGCACGCCGGCGCCGC	0.701000													21	43					2.37509e-13	2.49535e-13	1	1	0
MRVI1	10335	broad.mit.edu	37	11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:10622600G>A	ENST00000547195.1	-	14	2109	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	601	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507000													55	188					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	15					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815785	64815785	+	Translation_Start_Site	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr11:64815785G>A	ENST00000528884.1	-	0	144				NAALADL1_ENST00000355369.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000356632.3_Missense_Mutation_p.T389M|NAALADL1_ENST00000340252.4_Missense_Mutation_p.T475M|NAALADL1_ENST00000526799.1_De_novo_Start_InFrame|NAALADL1_ENST00000355721.3_Missense_Mutation_p.T383M|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000358658.3_Missense_Mutation_p.T424M			Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1						proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TGTGAATTCCGTGGAGCCAAT	0.632000													24	151					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769697	18769697	+	RNA	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr22:18769697A>G	ENST00000412448.1	-	0	981																											GTTTTCCAGGACTGCCGCCAA	0.682000													5	180					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													5	65					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98238420	98238420	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr9:98238420T>A	ENST00000430669.2	-	12	2011	c.1426A>T	c.(1426-1428)Aag>Tag	p.K476*	PTCH1_ENST00000331920.6_Nonsense_Mutation_p.K542*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.K391*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.K541*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.K476*			Q13635	PTC1_HUMAN	patched 1	542	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTGTGCGCTTCAGGCACTCC	0.582000													7	28					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234104109	234104109	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:234104109C>T	ENST00000359570.5	+	26	2625	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	INPP5D_ENST00000450745.1_Silent_p.H639H|INPP5D_ENST00000455936.2_Silent_p.H639H			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	887					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACCAGCCACGACCCCATGA	0.557000													25	99					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672770	30672770	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:30672770T>A	ENST00000376406.3	-	10	4837	c.4190A>T	c.(4189-4191)aAt>aTt	p.N1397I	MDC1_ENST00000376405.2_Missense_Mutation_p.N1133I|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1397	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGAGGATCTATTTTTTCTTCC	0.562000								Other conserved DNA damage response genes					46	117					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44751845	44751845	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:44751845C>T	ENST00000372285.3	+	5	556	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	CD40_ENST00000372276.3_Missense_Mutation_p.H162Y|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	162					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGAAAAATGTCACCCTTGGAC	0.547000									Immune Deficiency with Hyper-IgM				85	135					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685522	248685522	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr1:248685522C>T	ENST00000343414.4	+	1	607	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGGATACGACTTTCAAC	0.498000													14	34					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320229	232320229	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:232320229G>A	ENST00000322723.4	-	13	2179	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	647	RRM 4.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCACCCTTAGGTTTGGCCCAG	0.552000													7	295					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152298457	152298457	+	Silent	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:152298457A>G	ENST00000243326.4	+	15	2169	c.1686A>G	c.(1684-1686)aaA>aaG	p.K562K	RIF1_ENST00000453091.2_Silent_p.K562K|RIF1_ENST00000444746.2_Silent_p.K562K|RIF1_ENST00000428287.2_Silent_p.K562K|RIF1_ENST00000430328.2_Silent_p.K562K|RIF1_ENST00000433166.2_3'UTR			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	562					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCCTCAGAAAGTATTAGGTT	0.294000													7	34					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953377	25953377	+	Silent	SNP	C	C	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:25953377C>T	ENST00000356865.6	-	11	2526	c.2415G>A	c.(2413-2415)gcG>gcA	p.A805A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	805					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGGCCTTCCGCCGCATACA	0.577000													31	59					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60609124	60609124	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:60609124A>G	ENST00000400316.4	+	11	3379	c.1598A>G	c.(1597-1599)tAt>tGt	p.Y533C	PHLPP1_ENST00000262719.5_Missense_Mutation_p.Y1045C	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1045					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CACATGGCCTATAACCGACTT	0.413000													14	38					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542533	54542533	+	Silent	SNP	G	G	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr15:54542533G>A	ENST00000545554.1	+	7	3339	c.3339G>A	c.(3337-3339)gaG>gaA	p.E1113E	UNC13C_ENST00000260323.11_Silent_p.E1113E|UNC13C_ENST00000537900.1_Silent_p.E1111E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1113					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTGTTATGAGTGTGAAGGGC	0.507000													16	39					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64147706	64147706	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:64147706A>G	ENST00000354504.3	-	11	2055	c.1466T>C	c.(1465-1467)aTg>aCg	p.M489T	VPS54_ENST00000409558.3_Missense_Mutation_p.M630T|VPS54_ENST00000272322.4_Missense_Mutation_p.M642T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	642					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GAATGTTTCCATTAATCTAGA	0.328000													6	41					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	881689	881689	+	Silent	SNP	G	G	C			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:881689G>C	ENST00000312090.6	-	7	1161	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	MED16_ENST00000325464.1_Silent_p.L337L|MED16_ENST00000269814.4_Silent_p.L337L|MED16_ENST00000395808.3_Silent_p.L337L|MED16_ENST00000589119.1_Silent_p.L337L|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	337					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCCATTTGAGAATTGTGG	0.572000													9	95					0	0	1	0	0
LOC101929551	101929551	broad.mit.edu	37	2	8035344	8035344	+	RNA	DEL	C	C	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:8035344delC	ENST00000416534.1	-	0	332																											GCTGCTCTGTCCCCATGGTTA	0.522													2	4	---	---	---	---					
ZNF513	130557	broad.mit.edu	37	2	27600959	27600960	+	In_Frame_Ins	INS	-	-	AGCCTT			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:27600959_27600960insAGCCTT	ENST00000323703.6	-	4	1276_1277	c.1078_1079insAAGGCT	c.(1078-1080)tgc>AAGGCTtgc	p.359_360insKA	ZNF513_ENST00000407879.1_In_Frame_Ins_p.297_298insKA|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	359					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTACAGGCAAAGCCTTTGTCA	0.653													28	143	---	---	---	---					
SLC39A10	57181	broad.mit.edu	37	2	196545000	196545001	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr2:196545000_196545001insT	ENST00000409086.3	+	2	509_510	c.234_235insT	c.(232-237)tcttttfs	p.SF78fs	SLC39A10_ENST00000359634.5_Frame_Shift_Ins_p.SF78fs|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	78					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GAAGATTATCCTTTTTTGGTTT	0.337													15	77	---	---	---	---					
FAM159B	100132916	broad.mit.edu	37	5	63986522	63986522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr5:63986522delC	ENST00000389074.5	+	1	388	c.72delC	c.(70-72)tgfs	p.C24fs		NM_001164442.1	NP_001157914.1	A6NKW6	F159B_HUMAN	family with sequence similarity 159, member B	24						integral to membrane											CCTTCCAGTGCCCCCGGCGCG	0.682													3	3	---	---	---	---					
C6orf89	221477	broad.mit.edu	37	6	36887446	36887447	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr6:36887446_36887447delTG	ENST00000480824.2	+	8	1212_1213	c.918_919delTG	c.(916-921)tctgfs	p.SV306fs	C6orf89_ENST00000359359.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.SV306fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.SV313fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	306						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ATTGTCAGTCTGTGGCCATGCC	0.485													12	62	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													2	4	---	---	---	---					
IPO8	10526	broad.mit.edu	37	12	30815384	30815385	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr12:30815384_30815385insA	ENST00000256079.4	-	15	1969_1970	c.1631_1632insT	c.(1630-1632)acafs	p.T544fs	IPO8_ENST00000544829.1_Frame_Shift_Ins_p.T339fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	544					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACAGTTCCTGCATAATAGGCCT	0.342													10	21	---	---	---	---					
RFNG	5986	broad.mit.edu	37	17	80009484	80009484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr17:80009484delG	ENST00000310496.4	-	1	166	c.159delC	c.(157-159)ccfs	p.P53fs	GPS1_ENST00000583983.1_Intron	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	53					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCGCAGGCTgggggcagcgg	0.801													2	4	---	---	---	---					
MC2R	4158	broad.mit.edu	37	18	13884807	13884807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr18:13884807delA	ENST00000327606.3	-	2	891	c.711delT	c.(709-711)ctfs	p.L237fs		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	237					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAGGACATGAAGCACAAAGG	0.547													23	72	---	---	---	---					
TCF3	6929	broad.mit.edu	37	19	1615665	1615666	+	Frame_Shift_Ins	INS	-	-	CCGA			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr19:1615665_1615666insCCGA	ENST00000395423.3	-	14	1479_1480	c.1452_1453insTCGG	c.(1450-1455)cgactcfs	p.L485fs	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron			P15923	TFE2_HUMAN	transcription factor 3	528					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGGAGTGCCGAGGGGTGG	0.693			T	"""PBX1, HLF, TFPT"""	pre B-ALL								17	64	---	---	---	---					
STMN3	50861	broad.mit.edu	37	20	62273569	62273570	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr20:62273569_62273570insT	ENST00000370053.1	-	4	455_456	c.374_375insA	c.(373-375)aaafs	p.K125fs	STMN3_ENST00000540534.1_Frame_Shift_Ins_p.K114fs	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	125					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGAAGTTGTTATTCTCCTCCAG	0.678													8	43	---	---	---	---					
C21orf91	54149	broad.mit.edu	37	21	19169235	19169235	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:19169235delA	ENST00000284881.4	-	3	418	c.328delT	c.(328-330)ctfs	p.S110fs	C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.S110fs|C21orf91_ENST00000400558.3_Frame_Shift_Del_p.S110fs	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	110										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GAACATTCAGAATCTGAATCC	0.343													19	80	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-F7-A61S-01A-11D-A28R-08	TCGA-F7-A61S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d293487d-2d02-4748-b4f7-b0eaef469643	42f4fccd-7a92-4716-830d-48781baf3ea8	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													3	3	---	---	---	---					
