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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CLCN2	1181	broad.mit.edu	37	3	184071937	184071937	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:184071937C>T	uc003foi.3	-	14	1797	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	CLCN2_uc003foh.3_Missense_Mutation_p.R82Q|CLCN2_uc010hya.2_Missense_Mutation_p.R541Q|CLCN2_uc011brl.2_Missense_Mutation_p.R558Q|CLCN2_uc011brm.2_Missense_Mutation_p.R514Q	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	558						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTTCTTGATTCGGATGATGCT	0.632000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			22		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025752	51025752	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr18:51025752G>T	uc002lfe.2	+	26	4599	c.3983G>T	c.(3982-3984)aGc>aTc	p.S1328I	DCC_uc010dpf.2_Missense_Mutation_p.S961I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1328					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGGCACCAAGCAGAACCATC	0.537000														39			49		4.64027e-19	5.28475e-19	1	1	0
ANKS4B	257629	broad.mit.edu	37	16	21261659	21261659	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:21261659G>A	uc010bwp.1	+	1	815	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	258										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAGGAGGACGGCAGTGTGCA	0.478000														59			14		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91811	91811	+	RNA	SNP	A	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chrGL000211.1:91811A>G	uc003bnz.1	+	6		c.1167A>G			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TAGTGTGTTTACATTTGTTTT	0.363000														16			3		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817459	2817459	+	Silent	SNP	T	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:2817459T>C	uc002crk.3	+	10	7479	c.6930T>C	c.(6928-6930)agT>agC	p.S2310S	SRRM2_uc002crj.1_Silent_p.S2214S|SRRM2_uc002crl.1_Silent_p.S2310S|SRRM2_uc010bsu.1_Silent_p.S2214S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2310	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCTCTGAGTCTCACAGGCT	0.622000														278			116		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73165934	73165934	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:73165934T>A	uc010izf.3	+	20	2642	c.2466T>A	c.(2464-2466)gaT>gaA	p.D822E	RGNEF_uc011csq.2_Missense_Mutation_p.D822E|RGNEF_uc021yam.1_Missense_Mutation_p.D822E|RGNEF_uc011csr.2_Missense_Mutation_p.D509E	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	822					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCAGCAGTGATGCCCAGGAGT	0.413000														98			59		0	0	1	0	0
PLD6	201164	broad.mit.edu	37	17	17106274	17106274	+	Missense_Mutation	SNP	G	A	A	rs139543758		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:17106274G>A	uc002gqz.3	-	1	612	c.566C>T	c.(565-567)aCg>aTg	p.T189M	PLD6_uc010cpn.3_Non-coding_Transcript	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	Homo sapiens phospholipase D family, member 6 (PLD6), mRNA.	189					DNA methylation involved in gamete generation|P granule organization|lipid catabolic process|meiosis|mitochondrial fusion|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity			endometrium(1)|lung(1)	2						GTCGTCCTCCGTGATGAGAAC	0.488000														65			23		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20187858	20187858	+	Silent	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:20187858C>T	uc003cbq.3	+	13	2501	c.2055C>T	c.(2053-2055)taC>taT	p.Y685Y		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	685					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAAAAGTTTACCCTGGACTTT	0.333000														59			57		0	0	1	0	0
SPINK4	27290	broad.mit.edu	37	9	33246702	33246702	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr9:33246702A>G	uc003zsh.3	+	2	202	c.191A>G	c.(190-192)gAa>gGa	p.E64G		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	64	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TATACGAATGAATGCCAGCTC	0.552000														69			32		0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73750966	73750966	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:73750966G>A	uc001xny.1	-	9	1092	c.772C>T	c.(772-774)Cct>Tct	p.P258S	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.P258S|NUMB_uc001xnz.1_Missense_Mutation_p.P247S|NUMB_uc001xob.1_Missense_Mutation_p.P247S|NUMB_uc001xod.1_Missense_Mutation_p.P258S|NUMB_uc001xoc.1_Missense_Mutation_p.P258S|NUMB_uc010ars.1_Missense_Mutation_p.P247S|NUMB_uc001xof.1_Missense_Mutation_p.P222S|NUMB_uc010ttz.1_Missense_Mutation_p.P4S	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	258					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGGCATGAGGATTGTTCATC	0.542000														129			56		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366488	10366488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:10366488G>A	uc002gmn.3	-	9	934	c.823C>T	c.(823-825)Cga>Tga	p.R275*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	275	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGTAACTCGGGACTTCTCT	0.353000														70			18		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71479648	71479648	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:71479648C>A	uc003kbw.4	+	2	606	c.365C>A	c.(364-366)aCc>aAc	p.T122N	MAP1B_uc010iyw.1_Missense_Mutation_p.T122N|MAP1B_uc010iyx.1_5'UTR|MAP1B_uc010iyy.1_5'UTR	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	122						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGTCAGCACCGAGGTAAGC	0.527000														77			35		1.67305e-13	1.8292e-13	1	1	0
TTC18	118491	broad.mit.edu	37	10	75037057	75037057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:75037057G>A	uc009xrc.3	-	21	2792	c.2671C>T	c.(2671-2673)Caa>Taa	p.Q891*	TTC18_uc001jty.3_Nonsense_Mutation_p.Q891*|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Nonsense_Mutation_p.Q272*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	891							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTGGTAGTTTGAGAAACACCA	0.378000														106			56		0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39868808	39868808	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:39868808G>A	uc001wvk.3	-	3	1918	c.1580C>T	c.(1579-1581)gCa>gTa	p.A527V		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	527										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GTCCATGACTGCATGCCAAGG	0.438000														28			14		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45445603	45445603	+	Silent	SNP	G	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr15:45445603G>C	uc001zus.1	+	26	3796	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	DUOX1_uc001zut.1_Silent_p.V1150V|DUOX1_uc010bee.1_Silent_p.V530V	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1150	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCATGTGGTGAATGTGTACC	0.547000														105			53		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52447643	52447643	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:52447643T>A	uc002pxz.2	+	5	971	c.507T>A	c.(505-507)caT>caA	p.H169Q	ZNF613_uc002pya.2_Missense_Mutation_p.H133Q	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ATGCCAAGCATGAACAATTTC	0.348000														108			70		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787084	121787084	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:121787084T>G	uc003ksw.1	+	9	2748	c.2542T>G	c.(2542-2544)Tcc>Gcc	p.S848A	SNCAIP_uc011cwl.1_Missense_Mutation_p.S406A|SNCAIP_uc003ksy.1_Missense_Mutation_p.S482A|SNCAIP_uc003ksx.1_Missense_Mutation_p.S895A|SNCAIP_uc003ksz.1_Missense_Mutation_p.S482A|SNCAIP_uc010jcu.2_Missense_Mutation_p.S444A|SNCAIP_uc011cwm.1_Missense_Mutation_p.S482A|SNCAIP_uc003kta.1_Missense_Mutation_p.S480A|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.S542A|SNCAIP_uc010jcx.1_Missense_Mutation_p.S788A|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.S364A	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	848					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCAGCGGACCTCCACAAGTAA	0.463000														57			25		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50200612	50200612	+	Silent	SNP	C	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:50200612C>A	uc010eng.3	+	3	487	c.171C>A	c.(169-171)gcC>gcA	p.A57A	CPT1C_uc002ppl.4_Silent_p.A57A|CPT1C_uc002ppi.3_5'UTR|CPT1C_uc002ppk.3_Silent_p.A57A|CPT1C_uc010enh.3_Silent_p.A57A|CPT1C_uc002ppj.3_Silent_p.A57A|CPT1C_uc010ybc.1_5'UTR	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	57					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGTTTCCTGCCAGCCCCCTCA	0.542000														65			23		2.98393e-07	3.09725e-07	1	1	0
TTC27	55622	broad.mit.edu	37	2	33036148	33036148	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:33036148G>A	uc002rom.3	+	16	2329	c.2056G>A	c.(2056-2058)Gtt>Att	p.V686I	TTC27_uc010ymx.2_Missense_Mutation_p.V636I	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	686							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAGTGGAGATGTTGCAACTGG	0.428000														67			43		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58348812	58348812	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:58348812T>G	uc002iyo.1	-	5	888	c.602A>C	c.(601-603)aAa>aCa	p.K201T	USP32_uc010wov.1_Missense_Mutation_p.K201T	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	201					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAATAGCGTTTCTCAAGATC	0.398000														75			33		0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658981	144658981	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr8:144658981C>A	uc003yyo.4	-	5	741	c.716G>T	c.(715-717)gGg>gTg	p.G239V	NAPRT1_uc003yym.4_Missense_Mutation_p.G239V|NAPRT1_uc003yyn.4_Missense_Mutation_p.G239V|NAPRT1_uc011lkh.2_Missense_Mutation_p.G239V			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	239					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGTCCACCCCAGGGCCCTC	0.672000														16			6		2.0095e-06	2.05974e-06	1	1	0
ZNF823	55552	broad.mit.edu	37	19	11833231	11833231	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:11833231G>C	uc002msm.2	-	3	1244	c.1118C>G	c.(1117-1119)tCg>tGg	p.S373W	ZNF823_uc010xmd.1_Missense_Mutation_p.S191W|ZNF823_uc010dyi.1_Missense_Mutation_p.S329W	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCGAAAGCTCGAGCTATGAGA	0.423000										HNSCC(68;0.2)				91			44		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7562980	7562980	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:7562980T>A	uc003mxp.1	+	4	972	c.693T>A	c.(691-693)taT>taA	p.Y231*	DSP_uc003mxq.1_Nonsense_Mutation_p.Y231*|DSP_uc021yle.1_Nonsense_Mutation_p.Y231*	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	231	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCGGCGACTATCGCTGGCAGC	0.522000														27			61		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1907965	1907965	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr11:1907965G>T	uc001lui.3	+	7	896	c.721G>T	c.(721-723)Gct>Tct	p.A241S	LSP1_uc001luj.3_Missense_Mutation_p.A369S|LSP1_uc001luk.3_Missense_Mutation_p.A179S|LSP1_uc001lul.3_Missense_Mutation_p.A179S|LSP1_uc001lum.3_Missense_Mutation_p.A179S	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	241					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TCTGCAGACCGCTGGCCGGAC	0.602000														52			37		1.2782e-34	1.51902e-34	1	1	0
WDR96	80217	broad.mit.edu	37	10	105944865	105944865	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:105944865G>T	uc001kxw.3	-	15	2166	c.2050C>A	c.(2050-2052)Cat>Aat	p.H684N	WDR96_uc009xxq.3_5'UTR|WDR96_uc001kxx.4_Missense_Mutation_p.H685N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	684								p.H684Y(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAATCCCATGACCCTGGTGA	0.403000														85			47		2.56175e-15	2.83869e-15	1	1	0
TTC18	118491	broad.mit.edu	37	10	75104981	75104981	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:75104981C>T	uc009xrc.3	-	5	572	c.451G>A	c.(451-453)Gta>Ata	p.V151I	TTC18_uc001jty.3_Missense_Mutation_p.V151I|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	151							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCCACTAATACTTTAACTTCA	0.413000														71			35		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142265	55142265	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:55142265T>C	uc003pcl.3	+	4	1165	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	284					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCCAACGAAGTCCCGGATGAG	0.507000														36			21		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96924426	96924426	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:96924426A>T	uc001yfn.2	+	11	1278	c.1234A>T	c.(1234-1236)Att>Ttt	p.I412F		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	412	Adenylate kinase.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCAGGAGGCGATTGTTGCCCC	0.493000														46			18		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36883897	36883897	+	Missense_Mutation	SNP	G	T	T	rs143115887		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:36883897G>T	uc002ody.1	-	4	1580	c.1345C>A	c.(1345-1347)Cct>Act	p.P449T		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P449S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTATAAGGTTTCTCACCA	0.413000														106			47		7.70917e-36	9.29635e-36	1	1	0
SLC44A2	57153	broad.mit.edu	37	19	10745556	10745556	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:10745556G>C	uc002mpf.3	+	10	1087	c.948G>C	c.(946-948)ttG>ttC	p.L316F	SLC44A2_uc002mpe.4_Missense_Mutation_p.L314F|SLC44A2_uc002mpg.1_Missense_Mutation_p.L36F|SLC44A2_uc002mph.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	316					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	AGACCTGGTTGGCCTTTAGTG	0.597000														125			52		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324460	112324460	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:112324460A>T	uc003dzf.3	-	7	2875	c.2657T>A	c.(2656-2658)aTg>aAg	p.M886K	CCDC80_uc011bhv.2_Missense_Mutation_p.M859K|CCDC80_uc003dzg.3_Missense_Mutation_p.M886K	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	886										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CACAATCACCATGGACCACAT	0.463000														27			19		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490142	65490142	+	Silent	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr15:65490142G>A	uc002aon.2	-	8	2663	c.2482C>T	c.(2482-2484)Ctg>Ttg	p.L828L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	828					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCCCAGCCAGGCTTGCCAAG	0.557000														51			25		0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201790562	201790562	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:201790562C>A	uc002uwr.3	-	12	1415	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	382					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ATGTTACCTTCTTTAAATTTG	0.308000														97			46		1.7489e-18	1.96452e-18	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109392304	109392304	+	Silent	SNP	T	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:109392304T>C	uc002tem.4	+	23	8535	c.8409T>C	c.(8407-8409)atT>atC	p.I2803I		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2803					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAAATCCATTAGTTCACCAT	0.363000														61			42		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174769	51174769	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:51174769G>C	uc021tif.1	-	1	1395	c.1073C>G	c.(1072-1074)gCg>gGg	p.A358G	SALL1_uc021tid.1_Missense_Mutation_p.A358G|SALL1_uc021tie.1_Missense_Mutation_p.A455G|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	455					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAGACCTTCGCGCAGAACCT	0.512000														103			49		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154249812	154249812	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr4:154249812G>A	uc003inh.2	+	10	2238	c.2153G>A	c.(2152-2154)aGc>aAc	p.S718N	TRIM2_uc003ing.2_Missense_Mutation_p.S691N	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	691						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TGGGGAAACAGCAGGATCCAG	0.418000														61			36		0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4862852	4862852	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:4862852C>T	uc002gae.3	-	6	694	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	SPAG7_uc002gaf.3_3'UTR	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	221						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGCAACTCTTCCCCACTCTGC	0.622000														94			27		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15542368	15542368	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:15542368T>G	uc002rcc.1	-	25	3021	c.2995A>C	c.(2995-2997)Atc>Ctc	p.I999L	NBAS_uc010exl.1_Missense_Mutation_p.I71L|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	999										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGGTATAGATGCACTCTAGT	0.383000														82			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106321585	106321585	+	Splice_Site	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:106321585C>T	uc021ser.1	-	4403		c.65058_splice	c.e4403+1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_Intron|IGHE_uc001ysk.1_Intron|IGHE_uc001ysl.1_Intron|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron					Parts of antibodies, mostly variable regions.																		GGTCACTCACCGGGGCCACAC	0.637000														4			5		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013205	183013205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:183013205G>A	uc003fli.1	-	12	1648	c.1558C>T	c.(1558-1560)Caa>Taa	p.Q520*	MCF2L2_uc003flj.1_Nonsense_Mutation_p.Q520*|MCF2L2_uc011bqr.1_Non-coding_Transcript|BC013229_uc003fln.1_Intron|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	520					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGACTCACTTGCCTCTTGTGA	0.468000														61			27		0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040204	24040204	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:24040204C>G	uc001wkq.2	-	5	2654	c.1736G>C	c.(1735-1737)gGt>gCt	p.G579A	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Missense_Mutation_p.G244A|JPH4_uc001wkr.2_Missense_Mutation_p.G579A	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	579					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCATCAGGACCCCTCGAGGA	0.687000														29			11		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131439188	131439188	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr12:131439188G>C	uc010tbm.2	+	1	645	c.86G>C	c.(85-87)aGa>aCa	p.R29T	GPR133_uc001uit.4_Missense_Mutation_p.R29T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	29					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTCTACTCCAGATCGCAGGAC	0.562000														103			30		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080232	57080232	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr11:57080232G>T	uc001njr.3	-	3	2242	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	TNKS1BP1_uc001njs.3_Missense_Mutation_p.L644M|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.L95M	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	644	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAACAGGCAGTGCCTGTCCA	0.652000														39			16		6.72482e-11	7.06969e-11	1	1	0
TMEM87B	84910	broad.mit.edu	37	2	112863589	112863589	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:112863589A>G	uc002thm.2	+	15	1830	c.1461A>G	c.(1459-1461)atA>atG	p.I487M		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	487						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CCGAAGGAATAAAATTAAGAG	0.284000														147			79		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48284203	48284203	+	Silent	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr7:48284203G>A	uc003toq.2	+	10	1317	c.1293G>A	c.(1291-1293)ttG>ttA	p.L431L	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	431					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAAAGCTTGCTGCAAAACC	0.388000														31			18		0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30050709	30050709	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:30050709A>T	uc003age.4	+	4	954	c.511A>T	c.(511-513)Aaa>Taa	p.K171*	NF2_uc003afy.4_Nonsense_Mutation_p.K171*|NF2_uc003afz.4_Nonsense_Mutation_p.K88*|NF2_uc003agf.4_Nonsense_Mutation_p.K171*|NF2_uc003agb.4_Nonsense_Mutation_p.K94*|NF2_uc003agc.4_Nonsense_Mutation_p.K133*|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Nonsense_Mutation_p.K171*|NF2_uc003aga.4_Nonsense_Mutation_p.K129*|NF2_uc003agh.4_Nonsense_Mutation_p.K130*|NF2_uc003agi.4_Nonsense_Mutation_p.K88*|NF2_uc003agj.4_Intron	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	171	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.L127_D382del(1)|p.P170fs*4(1)|p.L140_P252del(1)|p.P170fs*29(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATTGCTTCCAAAAAGGGTAAG	0.423000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					65			65		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760913	2760913	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr12:2760913G>T	uc009zdu.1	+	33	4510	c.4197G>T	c.(4195-4197)tgG>tgT	p.W1399C	CACNA1C_uc001qkc.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qjz.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkd.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qke.2_Missense_Mutation_p.W1340C|CACNA1C_uc001qkf.2_Missense_Mutation_p.W1340C|CACNA1C_uc009zdw.1_Missense_Mutation_p.W1373C|CACNA1C_uc001qkg.2_Missense_Mutation_p.W1338C|CACNA1C_uc001qkh.2_Missense_Mutation_p.W1340C|CACNA1C_uc001qkl.2_Missense_Mutation_p.W1399C|CACNA1C_uc001qkj.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkk.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkn.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkm.2_Missense_Mutation_p.W1340C|CACNA1C_uc001qko.2_Missense_Mutation_p.W1371C|CACNA1C_uc001qkp.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkq.2_Missense_Mutation_p.W1379C|CACNA1C_uc001qku.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkr.2_Missense_Mutation_p.W1368C|CACNA1C_uc001qks.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qkt.2_Missense_Mutation_p.W1351C|CACNA1C_uc009zdv.1_Missense_Mutation_p.W1348C|CACNA1C_uc001qkb.2_Missense_Mutation_p.W1351C|CACNA1C_uc001qki.1_Missense_Mutation_p.W1087C|CACNA1C_uc010sea.1_Missense_Mutation_p.W42C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1399					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632000														32			13		0.000151284	0.000151284	1	1	0
FAM22D	728130	broad.mit.edu	37	10	89118099	89118099	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:89118099C>A	uc001kes.3	+	0	623	c.77C>A	c.(76-78)tCt>tAt	p.S26Y	FAM22D_uc009xte.1_Missense_Mutation_p.S26Y	NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	Homo sapiens family with sequence similarity 22, member D (FAM22D), mRNA.	26										large_intestine(2)|lung(2)	4						CCAGGTCACTCTCTGGGTCTT	0.507000														235			50		7.90463e-13	8.52868e-13	1	1	0
FAM54A	113115	broad.mit.edu	37	6	136562761	136562761	+	Missense_Mutation	SNP	C	T	T	rs150447506		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:136562761C>T	uc010kgp.1	-	4	725	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	FAM54A_uc003qgt.1_Missense_Mutation_p.R112Q|FAM54A_uc003qgu.1_Missense_Mutation_p.R69Q	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	112										endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		CCGAACTAGTCGCAAAGGATG	0.368000														70			23		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52439900	52439900	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:52439900A>G	uc003ddx.3	-	9	927	c.812T>C	c.(811-813)aTt>aCt	p.I271T	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	271					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	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I271fs*61(2)		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)		GTGGGTCTGAATCAGCTCTGG	0.542000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								18			11		0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74383269	74383269	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:74383269C>G	uc002jrj.2	+	5	1512	c.1015C>G	c.(1015-1017)Ccc>Gcc	p.P339A	SPHK1_uc002jrf.1_Missense_Mutation_p.P253A|SPHK1_uc002jrg.1_Missense_Mutation_p.P202A|SPHK1_uc002jrh.2_Missense_Mutation_p.P267A|SPHK1_uc002jri.2_Missense_Mutation_p.P253A|SPHK1_uc002jrk.3_Missense_Mutation_p.P253A	NM_182965	NP_001136074	Q9NYA1	SPHK1_HUMAN	Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.	253					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GACAGTGGTGCCCGACGAGGA	0.627000														22			4		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24664	24664	+	RNA	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chrGL000241.1:24664G>A	uc011mgv.2	-	4		c.549C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TTTGACAGCCGTAAACTGCTC	0.289000														36			4		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32357951	32357951	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr20:32357951A>C	uc002wzy.3	+	9	1495	c.1475A>C	c.(1474-1476)gAg>gCg	p.E492A	ZNF341_uc002wzx.3_Missense_Mutation_p.E485A|ZNF341_uc010geq.3_Missense_Mutation_p.E402A|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ACATTTCTGGAGCACATCAAG	0.597000														28			13		0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016052	27016052	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:27016052T>C	uc002rhr.3	+	3	511	c.328T>C	c.(328-330)Tat>Cat	p.Y110H	CENPA_uc002rhs.3_Missense_Mutation_p.Y84H|CENPA_uc002rht.3_Non-coding_Transcript	NM_001809	NP_001800	P49450	CENPA_HUMAN	Homo sapiens centromere protein A (CENPA), transcript variant 1, mRNA.	110	CATD.|H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGACGCCTATCTCCTCAC	0.542000														234			138		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95660233	95660233	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:95660233C>G	uc001yef.2	-	11	2909	c.2793G>C	c.(2791-2793)ttG>ttC	p.L931F		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	931						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGCGTTCCTCAACTGAACAT	0.373000														62			18		0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472695	231472695	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:231472695T>A	uc001huq.3	-	0	884	c.797A>T	c.(796-798)aAt>aTt	p.N266I		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	266	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATTTTAGCATTTTCGGCCTG	0.547000														79			54		0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44806264	44806264	+	Silent	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:44806264G>A	uc002iku.3	+	16	1979	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NSF_uc010wke.2_Silent_p.Q530Q|NSF_uc010wkf.2_Silent_p.Q530Q|NSF_uc010wkg.2_Silent_p.Q619Q	NM_006178	NP_006169	P46459	NSF_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor (NSF), transcript variant 1, mRNA.	624					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTGTATTACAGGCTCTTCTCG	0.323000														59			34		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42691695	42691695	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr15:42691695C>G	uc001zpn.1	+	9	1505	c.1199C>G	c.(1198-1200)tCc>tGc	p.S400C	CAPN3_uc001zpk.1_Missense_Mutation_p.S173C|CAPN3_uc001zpl.1_Missense_Mutation_p.S313C|CAPN3_uc010udf.1_Missense_Mutation_p.S313C|CAPN3_uc010udg.1_Missense_Mutation_p.S265C|CAPN3_uc001zpo.1_Missense_Mutation_p.S400C|CAPN3_uc001zpp.1_Missense_Mutation_p.S352C|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	400	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTCAGGATGTCCTATGAGGAT	0.498000														33			17		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427450	27427450	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:27427450T>C	uc010eyv.1	-	9	1206	c.884A>G	c.(883-885)tAt>tGt	p.Y295C	SLC5A6_uc002rjd.3_Missense_Mutation_p.Y295C	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	295					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GAACACTGCATAACAGGAGCT	0.572000														57			30		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156628454	156628454	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:156628454C>A	uc001fpp.3	+	12	2893	c.2557C>A	c.(2557-2559)Ctg>Atg	p.L853M		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	853	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGCGCAATCTGCCGCTGAT	0.647000														90			65		5.32961e-40	6.52281e-40	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186072770	186072770	+	Silent	SNP	A	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:186072770A>G	uc001grq.1	+	68	10969	c.10740A>G	c.(10738-10740)ggA>ggG	p.G3580G	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3580	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCTAGGAGGAGGAGAGGTTC	0.433000														45			15		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24447376	24447376	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:24447376C>T	uc002zzi.1	+	7	873	c.746C>T	c.(745-747)gCg>gTg	p.A249V	CABIN1_uc021wnc.1_Intron|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Missense_Mutation_p.A249V|CABIN1_uc010guk.1_Missense_Mutation_p.A204V|CABIN1_uc002zzk.2_Missense_Mutation_p.A204V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	249					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGAGGCAAGCGCTGATTGTG	0.542000														29			21		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946163	150946163	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:150946163G>C	uc003lue.4	-	0	2343	c.2330C>G	c.(2329-2331)cCc>cGc	p.P777R	FAT2_uc010jhx.1_Missense_Mutation_p.P777R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	777	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGTCCAAGGGAGCAGCTAC	0.498000														39			25		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766046	25766046	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr8:25766046A>C	uc003xes.2	-	6	842	c.577T>G	c.(577-579)Tgc>Ggc	p.C193G	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	193					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCTGATTGCACTTGAGGAAA	0.373000														34			18		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626411	55626411	+	Silent	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:55626411G>A	uc010qhy.1	-	27	4118	c.3723C>T	c.(3721-3723)gcC>gcT	p.A1241A	PCDH15_uc010qhq.2_Silent_p.A1241A|PCDH15_uc010qhr.2_Silent_p.A1236A|PCDH15_uc021pqv.1_Silent_p.A1236A|PCDH15_uc021pqw.1_Silent_p.A1248A|PCDH15_uc010qht.2_Silent_p.A1243A|PCDH15_uc021pqx.1_Silent_p.A1236A|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.A1236A|PCDH15_uc021pqz.1_Silent_p.A1214A|PCDH15_uc010qhv.1_Silent_p.A1236A|PCDH15_uc010qhw.1_Silent_p.A1199A|PCDH15_uc010qhx.1_Silent_p.A1165A|PCDH15_uc010qhz.1_Silent_p.A1236A|PCDH15_uc010qia.1_Silent_p.A1214A|PCDH15_uc001jju.1_Silent_p.A1236A|PCDH15_uc010qib.1_Silent_p.A1214A	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1236	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGAGTACATCGGCTTTGCCGC	0.383000										HNSCC(58;0.16)				73			24		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55705980	55705980	+	Silent	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:55705980C>T	uc021tio.1	+	2	588	c.537C>T	c.(535-537)acC>acT	p.T179T	SLC6A2_uc002eif.3_Silent_p.T179T|SLC6A2_uc002eig.3_Silent_p.T179T|SLC6A2_uc002eii.3_Silent_p.T74T	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	179					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTGGCCACACCTGGAACAGCC	0.567000														39			12		0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59082617	59082617	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:59082617A>G	uc002qto.3	-	1	701	c.140T>C	c.(139-141)tTc>tCc	p.F47S	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.F47S|MZF1_uc010euu.1_Missense_Mutation_p.F88S	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	47	SCAN box.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GAAGCACCGGAAACGCAGGCG	0.642000														30			3		0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111213388	111213388	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr6:111213388G>A	uc003puk.1	+	4	774	c.452G>A	c.(451-453)cGt>cAt	p.R151H	AMD1_uc011eay.1_Missense_Mutation_p.R82H|AMD1_uc003pul.1_Missense_Mutation_p.R3H|AMD1_uc011eaz.1_Missense_Mutation_p.R122H|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	151					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGTATGGGACGTATGAATTCT	0.333000														214			104		0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986877	1986877	+	Silent	SNP	C	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:1986877C>G	uc002lup.1	-	7	1368	c.1368G>C	c.(1366-1368)ccG>ccC	p.P456P	BTBD2_uc002luo.1_Silent_p.P135P	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	456						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		GCACCTCCACCGGCTCCTTGA	0.632000														36			10		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54125075	54125075	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:54125075C>G	uc002rxp.2	-	30	3594	c.3538G>C	c.(3538-3540)Gtg>Ctg	p.V1180L	PSME4_uc010yop.1_Missense_Mutation_p.V1066L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.V555L|PSME4_uc010fbv.1_Missense_Mutation_p.V324L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1180					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAGGCAACACTCGGTCATCT	0.408000														97			37		0	0	1	0	0
ATP6V0E1	8992	broad.mit.edu	37	5	172410944	172410944	+	Silent	SNP	C	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr5:172410944C>T	uc003mcd.1	+	0	182	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_003945	NP_003936	O15342	VA0E1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA.	27					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCCTTGGTTCATCCCTAAGG	0.647000														143			79		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18039921	18039921	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:18039921T>G	uc021trm.1	+	13	4919	c.4700T>G	c.(4699-4701)cTc>cGc	p.L1567R	MYO15A_uc021trl.1_Missense_Mutation_p.L1565R	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1567	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTCAGCTGGCTCATCACCAGG	0.622000														44			18		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974516	200974517	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr1:200974516_200974517delTC	uc001gvs.2	-	4	968_969	c.651_652delGA	c.(649-654)cagatgfs	p.Q217fs	KIF21B_uc009wzl.2_Frame_Shift_Del_p.Q217fs|KIF21B_uc001gvr.2_Frame_Shift_Del_p.Q217fs|KIF21B_uc010ppn.2_Frame_Shift_Del_p.Q217fs|KIF21B_uc001gvt.1_Start_Codon_Del	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	217	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCACGTTCATCTGGGTGCTGG	0.639													---	96	---	---	48	---					
THUMPD2	80745	broad.mit.edu	37	2	39983057	39983058	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr2:39983057_39983058insT	uc002rru.2	-	6	971_972	c.934_935insA	c.(934-936)atafs	p.I312fs	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Frame_Shift_Ins_p.I203fs	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	312							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TTCCAAAAGTATTGTTCCAAGT	0.322													---	65	---	---	32	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													---	4	---	---	2	---					
SETD2	29072	broad.mit.edu	37	3	47161751	47161757	+	Frame_Shift_Del	DEL	GCTGTGG	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:47161751_47161757delGCTGTGG	uc003cqv.3	-	2	4422_4428	c.4336_4342delCCACAGC	c.(4336-4344)ccacagcgafs	p.P1446fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.P1457fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.K1445*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCTTCCATCGCTGTGGGTCCCTGAAG	0.444			"""N, F, S, Mis"""		clear cell renal carcinoma								---	53	---	---	40	---					
CADM2	253559	broad.mit.edu	37	3	86114798	86114799	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr3:86114798_86114799insT	uc003dql.3	+	8	1113_1114	c.1113_1114insT	c.(1111-1116)ctcatafs	p.L371fs	CADM2_uc003dqj.3_Frame_Shift_Ins_p.L369fs|CADM2_uc003dqk.3_Frame_Shift_Ins_p.L338fs|CADM2_uc003dqm.2_Frame_Shift_Ins_p.L261fs|CADM2_uc021xay.1_Frame_Shift_Ins_p.L221fs|CADM2_uc021xaz.1_Frame_Shift_Ins_p.L221fs|CADM2_uc021xba.1_Frame_Shift_Ins_p.L261fs	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	369					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCATGCTCTCATAGGAGGAAT	0.406													---	33	---	---	28	---					
FAT1	2195	broad.mit.edu	37	4	187541245	187541245	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr4:187541245delT	uc003izf.3	-	9	6683	c.6495delA	c.(6493-6495)tcafs	p.S2165fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2165	Cadherin 19.				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						TAACTTCCGCTGAAAAGGCCG	0.423										HNSCC(5;0.00058)			---	55	---	---	26	---					
XKR4	114786	broad.mit.edu	37	8	56015502	56015504	+	In_Frame_Del	DEL	GTG	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr8:56015502_56015504delGTG	uc003xsf.3	+	0	486_488	c.454_456delGTG	c.(454-456)gtgdel	p.V153del		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	153						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCTTCTTCGTGGTGCTCGGCT	0.655													---	59	---	---	22	---					
TG	7038	broad.mit.edu	37	8	133898849	133898849	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr8:133898849delC	uc003ytw.3	+	8	1273	c.1232delC	c.(1231-1233)acgfs	p.T411fs		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	411					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCCACCCACGATCAAGGAG	0.537													---	259	---	---	113	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	46	---	---	10	---					
EBF3	253738	broad.mit.edu	37	10	131755589	131755589	+	Splice_Site	DEL	G	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr10:131755589delG	uc021qav.1	-	6	545	c.444_splice	c.e6-1	p.S148_splice	EBF3_uc001lki.2_Splice_Site_p.S162_splice	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	162					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCACAGCACCGGCTGTGGAGC	0.388													---	131	---	---	50	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	Splice_Site	DEL	GT	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr11:14276276_14276277delGT	uc001mle.3	+	9	1357	c.1089_splice	c.e9+1	p.E363_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	364	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													---	37	---	---	7	---					
NYNRIN	57523	broad.mit.edu	37	14	24885007	24885007	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr14:24885007delC	uc001wpf.4	+	8	4370	c.4052delC	c.(4051-4053)accfs	p.T1351fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1351					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TACACGCCAACCTATGCCCAC	0.602													---	106	---	---	48	---					
MEFV	4210	broad.mit.edu	37	16	3297239	3297240	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:3297239_3297240insT	uc002cun.1	-	4	1403_1404	c.1363_1364insA	c.(1363-1365)actfs	p.T455fs	MEFV_uc021tbw.1_Frame_Shift_Ins_p.T244fs|MEFV_uc021tbx.1_Frame_Shift_Ins_p.T35fs|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Frame_Shift_Ins_p.T35fs	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	455					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAGCGCTTCAGTTTGTTTCTGG	0.594													---	97	---	---	45	---					
IRX5	10265	broad.mit.edu	37	16	54966812	54966813	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr16:54966812_54966813delGC	uc002ehv.3	+	1	652_653	c.652_653delGC	c.(652-654)gcafs	p.A218fs	IRX5_uc010cca.1_Frame_Shift_Del_p.A270fs|IRX5_uc021tin.1_Frame_Shift_Del_p.A218fs|IRX5_uc002ehw.3_Frame_Shift_Del_p.A152fs	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	218					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGGCCCCGAAGCAGGTTGGTGG	0.649													---	156	---	---	71	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	74	---	---	8	---					
GRAMD1A	57655	broad.mit.edu	37	19	35500801	35500802	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr19:35500801_35500802insCA	uc010xsf.1	+	3	265_266	c.265_266insCA	c.(265-267)cccfs	p.P89fs	GRAMD1A_uc002nxi.1_Frame_Shift_Ins_p.P171fs|GRAMD1A_uc010xse.1_Frame_Shift_Ins_p.P84fs|GRAMD1A_uc002nxk.2_Frame_Shift_Ins_p.P77fs|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	84						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGCTGAGCCCCACTTATAAG	0.559													---	101	---	---	49	---					
CPXM1	56265	broad.mit.edu	37	20	2775062	2775063	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr20:2775062_2775063insA	uc002wgu.3	-	13	2052_2053	c.1978_1979insT	c.(1978-1980)tatfs	p.Y660fs	CPXM1_uc010gas.3_Frame_Shift_Ins_p.Y586fs	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	660					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGACGCCAATAATCCCCGCCC	0.599													---	44	---	---	28	---					
PPM1F	9647	broad.mit.edu	37	22	22285579	22285579	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5877-01A-11D-1589-08	TCGA-BQ-5877-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7377aeb8-7349-4771-96c7-26f8e493de59	0a320a35-d24f-4c14-9e58-8ac73b6a4c03	g.chr22:22285579delT	uc002zvp.2	-	5	979	c.832delA	c.(832-834)attfs	p.I278fs	PPM1F_uc011aik.2_Frame_Shift_Del_p.I174fs|PPM1F_uc002zvq.3_Frame_Shift_Del_p.I278fs	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	278					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGTACCAAAATGACCTGGGAA	0.637													---	49	---	---	41	---					
