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
CPNE1	8904	broad.mit.edu	37	20	34220525	34220525	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr20:34220525G>A	ENST00000317619.3	-	5	617	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CPNE1_ENST00000397442.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R75C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R75C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R80C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397443.1_Missense_Mutation_p.R75C			Q99829	CPNE1_HUMAN	copine I	75	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATTCCAAAGCGTAGCTTCTGG	0.542000													13	145					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120744381	120744381	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr8:120744381C>T	ENST00000378164.2	-	26	3681	c.3383G>A	c.(3382-3384)aGc>aAc	p.S1128N		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1128					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGGAGCGCTTGCCGCTGG	0.443000													28	97					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89253860	89253860	+	Silent	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:89253860C>T	ENST00000289746.2	+	6	752	c.687C>T	c.(685-687)acC>acT	p.T229T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	229	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACAATCTGACCCTGCAGGTGG	0.622000													3	20					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74683055	74683055	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:74683055T>A	ENST00000361070.4	-	4	864	c.767A>T	c.(766-768)gAt>gTt	p.D256V	RFWD3_ENST00000571750.1_Missense_Mutation_p.D256V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	256					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTTGCCTCCATCGATACATGT	0.363000													5	70					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292810	102292810	+	RNA	SNP	G	G	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr15:102292810G>T	ENST00000561463.1	+	0	856																											ACCTGCACTCGCGTGGGAACG	0.607000													3	21					6.4e-05	7.31429e-05	1	1	0
SZT2	23334	broad.mit.edu	37	1	43894060	43894060	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:43894060C>T	ENST00000562955.1	+	27	3898	c.3898C>T	c.(3898-3900)Ccc>Tcc	p.P1300S	SZT2_ENST00000372442.1_Missense_Mutation_p.P458S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1357						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCTCATGCACCCCCAAGTCC	0.557000													24	43					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55573401	55573401	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573401T>A	ENST00000288135.5	+	6	1160	c.1063T>A	c.(1063-1065)Ttc>Atc	p.F355I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	355	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAACAGAACCTTCACTGATAA	0.393000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				10	45					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	127					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133359042	133359042	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:133359042C>A	ENST00000204726.3	-	17	3863	c.3305G>T	c.(3304-3306)cGc>cTc	p.R1102L	GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1102L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1102					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTCAAGGCGTTTTATCTT	0.478000													4	160					1	1	1	1	0
LINC00969	0	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	67					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749943	24749943	+	Silent	SNP	G	G	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:24749943G>A	ENST00000545231.1	-	8	1420	c.270C>T	c.(268-270)taC>taT	p.Y90Y	DFNA5_ENST00000409970.1_Silent_p.Y90Y|DFNA5_ENST00000419307.1_Silent_p.Y90Y|DFNA5_ENST00000342947.3_Silent_p.Y254Y|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.Y254Y			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	254					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGGGTCCAGGTAGACAGAGT	0.473000													15	87					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr2:220412578A>C	ENST00000344458.2	+	4	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P			Q66K66	TM198_HUMAN	transmembrane protein 198	173	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697000													6	13					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	47					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	68					0	0	1	0	0
CARD16	114769	broad.mit.edu	37	11	104915191	104915191	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:104915191C>A	ENST00000375706.2	-	2	219	c.202G>T	c.(202-204)Gca>Tca	p.A68S	CARD16_ENST00000525374.1_Missense_Mutation_p.A68S|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.A68S|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						ATTTGGCATGCCTGTGCCCCT	0.463000													7	204					8.12818e-05	8.86711e-05	1	1	0
KIT	3815	broad.mit.edu	37	4	55573421	55573421	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573421T>G	ENST00000288135.5	+	6	1180	c.1083T>G	c.(1081-1083)gaT>gaG	p.D361E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	361	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATGGGAAGATTATCCCAAGT	0.403000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				10	41					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	43					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55573419	55573419	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:55573419G>C	ENST00000288135.5	+	6	1178	c.1081G>C	c.(1081-1083)Gat>Cat	p.D361H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	361	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D361N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAATGGGAAGATTATCCCAA	0.408000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				10	43					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76440797	76440797	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr17:76440797G>C	ENST00000389840.5	-	71	11499	c.11375C>G	c.(11374-11376)tCg>tGg	p.S3792W	DNAH17_ENST00000585328.1_Missense_Mutation_p.S3801W|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGGGCTTCCGACTCCACCAG	0.587000													7	27					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011623	21011623	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:21011623A>T	ENST00000261383.3	-	43	6343	c.6344T>A	c.(6343-6345)aTc>aAc	p.I2115N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2115	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGACATGATGATATCCTGGGT	0.522000													9	70					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6512140	6512140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:6512140delA	ENST00000377828.1	+	10	2477	c.2309delA	c.(2308-2310)ggfs	p.E771fs	ESPN_ENST00000461727.1_Frame_Shift_Del_p.E205fs|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Frame_Shift_Del_p.E205fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	771	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGAGGAGGAGGAGCAGAGG	0.682													2	4	---	---	---	---					
RP11-739N20.2	0	broad.mit.edu	37	1	204363979	204363980	+	RNA	INS	-	-	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr1:204363979_204363980insA	ENST00000443515.1	+	0	146																											atttgtttttcaaaaaaaaaaa	0.307													2	4	---	---	---	---					
RP11-453E17.1	0	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	ACACAT	rs59536241	by1000genomes	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:68632418_68632419insACACAT	ENST00000500538.2	+	0	1905				RP11-453E17.1_ENST00000502758.1_RNA																							cacacacacacaTATATATAct	0.431													6	6	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs71855026		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)caa>ca	p.QQQ507del	MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515													7	88	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													8	56	---	---	---	---					
SLC31A2	1318	broad.mit.edu	37	9	115913263	115913265	+	Translation_Start_Site	DEL	GCG	GCG	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr9:115913263_115913265delGCG	ENST00000259392.3	+	0	42_44				SLC31A2_ENST00000490809.1_3'UTR	NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2							integral to plasma membrane	copper ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						GGTAGCTATCgcggcggcggcgg	0.744													2	4	---	---	---	---					
MCU	90550	broad.mit.edu	37	10	74451955	74451956	+	In_Frame_Ins	INS	-	-	GGGGCG			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr10:74451955_74451956insGGGGCG	ENST00000373053.3	+	1	67_68	c.46_47insGGGGCG	c.(46-48)ggg>GGGGCGggg	p.16_16G>GAG	MCU_ENST00000357157.6_In_Frame_Ins_p.16_16G>GAG	NM_138357.1	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	16					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTCCTCTCGGggcggcggc	0.767													3	5	---	---	---	---					
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggt>gg	p.GSKGGCGSCGG93del	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													9	295	---	---	---	---					
RP11-179A10.1	0	broad.mit.edu	37	11	11158591	11158592	+	RNA	DEL	AG	AG	-	rs11303970		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr11:11158591_11158592delAG	ENST00000525758.1	+	0	108																											aaaaaaaaaaagaaaaaaaaat	0.391													4	8	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)del	p.S52del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557													7	542	---	---	---	---					
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)acfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398													8	179	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													18	60	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28836960	28836961	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr16:28836960_28836961insA	ENST00000336783.4	+	3	519_520	c.352_353insA	c.(352-354)caafs	p.Q118fs	ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.Q118fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	118	Interaction with MPL.					membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGAAGGCGTCTACAACAATTCC	0.426													10	176	---	---	---	---					
CTD-2206N4.4	0	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs71141752		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.550													2	4	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-J8-A42S-01A-11D-A23M-08	TCGA-J8-A42S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12fcb9bc-5cdc-44a8-b572-184c0287cb01	d75187ef-ddd6-4d42-93a7-57655c9665f2	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			6	13	---	---	---	---					
