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
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58066651	58066651	+	Silent	SNP	C	T	T	rs144367363	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:58066651C>T	uc002iyf.2	-	8	721	c.486G>A	c.(484-486)caG>caA	p.Q162Q	AK097658_uc002iye.1_Intron					Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		ACTGGTAAAGCTGTTTAAGAG	0.333000														44			4		0	0	0.248553	0	0
SPATA20	64847	broad.mit.edu	37	17	48631710	48631710	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:48631710G>A	uc002ird.3	+	14	2197	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	SPATA20_uc002irc.3_Missense_Mutation_p.V337M|SPATA20_uc002ire.3_Missense_Mutation_p.V626M|SPATA20_uc002irf.3_Missense_Mutation_p.V670M|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	670					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGACAAGTGTGTGTGCCTATT	0.632000														391			47		0	0	0.870114	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249275	73249275	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:73249275G>C	uc003tzj.2	-	5	576	c.536C>G	c.(535-537)gCt>gGt	p.A179G		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	179										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGCCTCCAGAGCCTCCTTGTA	0.662000														213			45		0	0	0.870114	0	0
MTMR12	54545	broad.mit.edu	37	5	32268842	32268842	+	Missense_Mutation	SNP	A	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:32268842A>T	uc003jhq.3	-	5	718	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	MTMR12_uc010iuk.3_Missense_Mutation_p.L183Q|MTMR12_uc010iul.3_Missense_Mutation_p.L183Q	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	183						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAGGAAAACAGAAATAATCG	0.388000														271			70		0	0	0.870114	0	0
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:78326807C>T	uc003kfs.3	-	9	1538	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_uc011cte.1_Missense_Mutation_p.R361H|DMGDH_uc011ctf.1_Missense_Mutation_p.R310H|DMGDH_uc011ctg.1_Missense_Mutation_p.R131H	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	511					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.R510P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398000														202			5		0	0	0.217242	0	0
OR8H2	390151	broad.mit.edu	37	11	55873188	55873188	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:55873188A>G	uc010riy.2	+	0	670	c.670A>G	c.(670-672)Acc>Gcc	p.T224A		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224I(1)|p.T224M(1)|p.T224T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATTCTCTTTACCATCCTGAA	0.388000										HNSCC(53;0.14)				482			49		0	0	0.870114	0	0
ZEB2	9839	broad.mit.edu	37	2	145156919	145156919	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145156919G>A	uc002tvu.3	-	7	2357	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	ZEB2_uc010zbm.2_Missense_Mutation_p.A588V|ZEB2_uc002tvv.3_Missense_Mutation_p.A606V|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.A641V	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	612						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A612A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGCAGGACCGCCTTGATCTC	0.433000														346			31		0	0	0.750413	0	0
IL27	246778	broad.mit.edu	37	16	28515269	28515269	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:28515269C>T	uc002dqc.3	-	1	157	c.134G>A	c.(133-135)aGg>aAg	p.R45K	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	45					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						TGTGAACTCCCTCCGCAGCTC	0.642000														253			64		0	0	0.870114	0	0
APBA1	320	broad.mit.edu	37	9	72131100	72131100	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:72131100G>A	uc004ahh.2	-	1	1303	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	343					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGGCATCGCGCTTCTCCTTG	0.706000														301			22		0	0	0.592651	0	0
ZNF536	9745	broad.mit.edu	37	19	30935498	30935498	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:30935498C>T	uc002nsu.1	+	1	1167	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	ZNF536_uc010edd.1_Silent_p.N343N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.N343S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTCGGCCAACGAGTTCCGCT	0.647000														803			94		0	0	0.870114	0	0
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38958370G>A	uc002oit.3	+	24	3429	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_uc002oiu.3_Missense_Mutation_p.R1100H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGAGATGCGCGTGGGCTGG	0.627000														455			37		0	0	0.804634	0	0
TMEM130	222865	broad.mit.edu	37	7	98453722	98453722	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:98453722C>T	uc003upo.3	-	3	825	c.636G>A	c.(634-636)gcG>gcA	p.A212A	TMEM130_uc011kiq.2_Silent_p.A193A|TMEM130_uc011kir.2_Silent_p.A212A|TMEM130_uc003upn.3_Silent_p.A110A	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	212	PKD.					Golgi membrane|integral to membrane		p.A212A(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCCCACTCCGCCACCACTT	0.587000														125			18		0	0	0.539581	0	0
QRICH2	84074	broad.mit.edu	37	17	74288692	74288692	+	Missense_Mutation	SNP	C	A	A	rs140703547	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:74288692C>A	uc002jrd.1	-	3	1798	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	540	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGCTGATCTGCACCAGGT	0.527000														252			31		1.13719e-10	1.21699e-10	0.729181	1	0
MN1	4330	broad.mit.edu	37	22	28193737	28193737	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:28193737C>T	uc003adj.3	-	0	3750	c.2795G>A	c.(2794-2796)gGc>gAc	p.G932D		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	932							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GACCGGCTTGCCGTCATTCCC	0.682000			T	ETV6	"""AML, meningioma"""									71			3		0	0	0.150653	0	0
SRMS	6725	broad.mit.edu	37	20	62172886	62172886	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:62172886C>T	uc002yfi.1	-	5	1075	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	345	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTGCACAACGCGCTGCTCCTC	0.706000														48			8		0	0	0.307466	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716971	222716971	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:222716971C>T	uc001hnh.1	-	1	940	c.882G>A	c.(880-882)tcG>tcA	p.S294S		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGTCCAGGCACGAATAATAAA	0.473000														782			177		0	0	0.870114	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000														119			5		0	0	0.278610	0	0
DNAH7	56171	broad.mit.edu	37	2	196729627	196729627	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:196729627C>T	uc002utj.4	-	40	6853	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2251					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAATCCAAACGCTGAAAAAG	0.403000														388			117		0	0	0.870114	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														69			9		0	0	0.307466	0	0
CHL1	10752	broad.mit.edu	37	3	433473	433473	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:433473T>A	uc003bot.3	+	22	3549	c.2907T>A	c.(2905-2907)taT>taA	p.Y969*	CHL1_uc003bou.3_Nonsense_Mutation_p.Y953*|CHL1_uc003bow.2_Nonsense_Mutation_p.Y953*|CHL1_uc011asi.2_Nonsense_Mutation_p.Y969*	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	953	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y969Y(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTGCAATATCAGATAAGTA	0.318000														253			22		0	0	0.608945	0	0
HOXC11	3227	broad.mit.edu	37	12	54367353	54367353	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:54367353G>A	uc001sem.3	+	0	444	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	110					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TCCTTCCACCGTCACCGAGAT	0.642000			T	NUP98	AML									723			206		0	0	0.870114	0	0
GLG1	2734	broad.mit.edu	37	16	74640687	74640687	+	Silent	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:74640687T>C	uc002fcx.3	-	0	356	c.306A>G	c.(304-306)ggA>ggG	p.G102G	GLG1_uc002fcw.4_Silent_p.G102G|GLG1_uc002fcy.4_Silent_p.G102G|GLG1_uc002fcz.4_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	102						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCCCCGCTCCTCCCCGCCGGG	0.697000														57			11		0	0	0.639603	0	0
RANBP9	10048	broad.mit.edu	37	6	13644862	13644862	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:13644862G>A	uc003nbb.3	-	5	1086	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RANBP9_uc003nba.3_Missense_Mutation_p.R2W	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	343					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTCCACTCCCGCATATAGTCT	0.438000														411			67		0	0	0.870114	0	0
KIAA0284	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:105361169A>C	uc001yps.3	+	17	4740	c.4434A>C	c.(4432-4434)tcA>tcC	p.S1478S	KIAA0284_uc010axb.3_Silent_p.S1443S|KIAA0284_uc001ypt.3_Silent_p.S181S	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1548						cytoplasm|microtubule		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCCACCCTCACCCGCCTCAG	0.711000														63			10		0	0	0.729181	0	0
COL25A1	84570	broad.mit.edu	37	4	109784477	109784477	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:109784477T>C	uc021xqo.1	-	19	1206	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	COL25A1_uc003hze.1_Missense_Mutation_p.K384E|COL25A1_uc021xqp.1_Missense_Mutation_p.K384E|COL25A1_uc003hzg.3_Missense_Mutation_p.K384E|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.K165E	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	384	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TAACTCACCTTTGGTCCGGGG	0.438000														133			19		0	0	0.575678	0	0
STXBP5	134957	broad.mit.edu	37	6	147525792	147525792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:147525792C>T	uc003qlz.3	+	0	299	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	LOC729178_uc003qlt.2_5'Flank|LOC729178_uc003qlu.1_5'Flank|STXBP5_uc010khz.2_Nonsense_Mutation_p.Q42*|STXBP5_uc003qly.3_5'Flank	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	42					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAAACGCTCCAGTCCGAGCA	0.632000														121			17		0	0	0.539581	0	0
SCAND3	114821	broad.mit.edu	37	6	28539892	28539892	+	Silent	SNP	A	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:28539892A>G	uc003nlo.3	-	3	4392	c.3774T>C	c.(3772-3774)ccT>ccC	p.P1258P		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1258					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cagcaagctcaggatagtcat	0.358000														246			8		0	0	0.278610	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86033	86033	+	RNA	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrGL000211.1:86033T>C	uc003bnz.1	+	5		c.781T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CCATAGGGAGTTTATAGCTTC	0.403000														19			4		0	0	0.150653	0	0
HSPA8	3312	broad.mit.edu	37	11	122931494	122931494	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:122931494A>G	uc001pyo.3	-	2	353	c.218T>C	c.(217-219)cTg>cCg	p.L73P	HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.L73P|HSPA8_uc010rzu.2_Intron|HSPA8_uc009zbd.2_Missense_Mutation_p.L73P|HSPA8_uc010rzv.1_Missense_Mutation_p.L73P	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	73					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCGTCCAATCAGACGTTTGGC	0.403000														232			58		0	0	0.870114	0	0
ZEB2	9839	broad.mit.edu	37	2	145147456	145147456	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145147456C>T	uc002tvu.3	-	9	3729	c.3207G>A	c.(3205-3207)tcG>tcA	p.S1069S	ZEB2_uc010zbm.2_Silent_p.S1045S|ZEB2_uc002tvv.3_Silent_p.S1063S|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1069						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGCGAGTACGAGCCCGAGT	0.577000														332			44		0	0	0.847076	0	0
DST	667	broad.mit.edu	37	6	56357816	56357816	+	Silent	SNP	A	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:56357816A>T	uc003pcy.4	-	64	12705	c.12597T>A	c.(12595-12597)ctT>ctA	p.L4199L	DST_uc003pda.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6611					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTGAGTAAGCCAGTTGA	0.428000														86			15		0	0	0.500413	0	0
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:44838993G>T	uc002xrm.2	-	5	1638	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V	CDH22_uc010ghk.1_Silent_p.V413V|CDH22_uc002xrn.2_Silent_p.V164V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771000														23			4		0.00909568	0.00924727	0.150653	1	0
ZNF202	7753	broad.mit.edu	37	11	123597658	123597658	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:123597658C>G	uc001pzd.1	-	8	1394	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ZNF202_uc001pzc.1_Missense_Mutation_p.D108H|ZNF202_uc001pze.1_Missense_Mutation_p.D332H|ZNF202_uc001pzf.1_Missense_Mutation_p.D332H	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	332					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAACTCAGATCTTCCTGCTCC	0.468000														810			99		0	0	0.870114	0	0
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:8607273A>C	uc003bqq.3	+	4	993	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_uc011atd.2_Silent_p.A220A|LMCD1_uc011ate.2_Silent_p.A181A	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	293	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632000														104			21		0	0	0.834066	0	0
ACHE	43	broad.mit.edu	37	7	100491142	100491142	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:100491142C>T	uc003uxd.3	-	0	868	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ACHE_uc003uxe.3_Missense_Mutation_p.A238T|ACHE_uc003uxf.3_Missense_Mutation_p.A238T|ACHE_uc003uxg.3_Missense_Mutation_p.A238T|ACHE_uc003uxh.3_Missense_Mutation_p.A238T|ACHE_uc003uxi.3_Missense_Mutation_p.A238T|ACHE_uc003uxj.1_Missense_Mutation_p.A357T	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	238					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCCACCGAGGCGGCTCCCGCG	0.706000														327			27		0	0	0.693898	0	0
ZNF788	388507	broad.mit.edu	37	19	12223527	12223527	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12223527C>T	uc002mtd.3	+	2	1802	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C						Homo sapiens zinc finger family member 788 (ZNF788), non-coding RNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TAGAGAAAAACGCTATAAATG	0.388000														7			3		0	0	0.115264	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	G	G	rs61746948		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39240900T>G	uc010wfn.2	+	0	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627000														26			5		0	0	0.335167	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342504	60342504	+	RNA	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:60342504T>C	uc010woz.2	-	13		c.1625A>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CAGTGCTGGGTGCACTGCAGG	0.637000														136			7		0	0	0.608945	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39240908T>C	uc010wfn.2	+	0	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.C150C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607000														24			5		0	0	0.307466	0	0
OR6F1	343169	broad.mit.edu	37	1	247875276	247875276	+	Missense_Mutation	SNP	C	T	T	rs149671274	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:247875276C>T	uc001idj.1	-	0	782	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATAGAGGTGCGGACGTGAAG	0.517000														361			73		0	0	0.870114	0	0
FANCC	2176	broad.mit.edu	37	9	97864014	97864014	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:97864014A>G	uc022bkl.1	-	14	1856	c.1652T>C	c.(1651-1653)cTt>cCt	p.L551P	FANCC_uc004avh.3_Missense_Mutation_p.L551P	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	551					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGCTCTTTAAGGAGCTCTCG	0.542000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					130			17		0	0	0.500413	0	0
RBM5	10181	broad.mit.edu	37	3	50141711	50141711	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:50141711A>G	uc003cyg.3	+	7	773	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	RBM5_uc011bdj.2_Missense_Mutation_p.K144E|RBM5_uc011bdk.2_Missense_Mutation_p.K28E	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	200					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAAGACTAAAATGCTTCCG	0.398000														132			43		0	0	0.870114	0	0
ZNF799	90576	broad.mit.edu	37	19	12502436	12502436	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12502436G>T	uc010dyt.3	-	3	980	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAGGCTTTAGAACACTGTTT	0.378000														512			44		2.55665e-31	2.81001e-31	0.870114	1	0
MBL1P	8512	broad.mit.edu	37	10	81667453	81667453	+	RNA	SNP	G	A	A	rs112457702		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:81667453G>A	uc021puw.1	+	2		c.391G>A								Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		AAAAAGCATCGTATTCCAGTG	0.373000														271			6		0	0	0.217242	0	0
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	A	A	rs112113280		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:52942423T>A	uc002pzk.3	+	3	1816	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.N570K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438000														48			3		0	0	0.115264	0	0
BIN2	51411	broad.mit.edu	37	12	51685907	51685907	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:51685907G>T	uc001ryg.3	-	9	1035	c.983C>A	c.(982-984)gCa>gAa	p.A328E	BIN2_uc009zlz.3_Missense_Mutation_p.A296E|BIN2_uc001ryh.3_Missense_Mutation_p.A204E|BIN2_uc010sng.2_Missense_Mutation_p.A302E	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	328						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAGGAGCTTGCTTCAGATCC	0.547000														333			28		6.32553e-13	6.89031e-13	0.681144	1	0
MAPK10	5602	broad.mit.edu	37	4	86950350	86950350	+	Splice_Site	SNP	C	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:86950350C>A	uc003hps.3	-	13	1938	c.1252_splice	c.e13+1	p.G418_splice	MAPK10_uc010ikg.3_Splice_Site_p.G380_splice|MAPK10_uc003hpr.3_Splice_Site_p.G380_splice|MAPK10_uc003hpt.3_Splice_Site_p.A418_splice|MAPK10_uc003hpu.3_Splice_Site_p.G418_splice|MAPK10_uc003hpv.3_Splice_Site_p.G273_splice|MAPK10_uc003hpn.3_Splice_Site_p.G166_splice|MAPK10_uc011ccw.2_Splice_Site_p.A304_splice|MAPK10_uc003hpo.3_Splice_Site_p.G273_splice|MAPK10_uc003hpp.3_Splice_Site_p.A273_splice	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	418					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAGTGAGTACCTGAAGGAGAA	0.358000														270			18		9.7654e-05	0.000100116	0.557998	1	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:184104344T>G	uc003fov.3	+	15	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_uc003fow.3_Missense_Mutation_p.V296G|CHRD_uc003fox.3_Missense_Mutation_p.V666G|CHRD_uc003foy.3_Missense_Mutation_p.V296G|CHRD_uc010hyc.3_Missense_Mutation_p.V256G|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726000														18			7		0	0	0.575678	0	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:4513206C>T	uc002mar.1	-	2	724	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000														751			26		0	0	0.693898	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7527146	7527146	+	Missense_Mutation	SNP	G	A	A	rs146371166		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:7527146G>A	uc002mgi.3	+	10	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R508Q|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R508Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R309Q	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	666					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602000														384			41		0	0	0.834066	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														59			3		0	0	0.115264	0	0
CCBL1	883	broad.mit.edu	37	9	131597903	131597903	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:131597903C>T	uc004bwh.3	-	9	1084	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.R300H|CCBL1_uc004bwj.3_Missense_Mutation_p.R250H|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.R394H	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	300					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GCTGGGTTGGCGGAAGAGCAG	0.607000														238			5		0	0	0.184627	0	0
DLC1	10395	broad.mit.edu	37	8	12957788	12957788	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:12957788C>T	uc003wwm.2	-	8	2502	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	DLC1_uc003wwk.1_Silent_p.A249A|DLC1_uc003wwl.1_Silent_p.A283A|DLC1_uc011kxx.1_Silent_p.A175A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	686					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTTTGAGGGCGCTTTGTGCT	0.557000														480			50		0	0	0.870114	0	0
HAND2	9464	broad.mit.edu	37	4	174450243	174450243	+	Silent	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:174450243G>A	uc003itg.1	-	0	288	c.198C>T	c.(196-198)ccC>ccT	p.P66P	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Silent_p.P66P			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	66					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGGCATACTCGGGGCTGTAGG	0.741000														45			7		0	0	0.278610	0	0
SUSD2	56241	broad.mit.edu	37	22	24583191	24583191	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24583191C>T	uc002zzn.1	+	10	1708	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	555	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCGGTGGCTGCCGGGGACAGG	0.652000														220			5		0	0	0.184627	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077157	34077157	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:34077157T>G	uc002hjv.2	-	1	594	c.566A>C	c.(565-567)gAc>gCc	p.D189A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	189					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCGAGGGGTCGGGCGGGGG	0.741000														241			16		0	0	0.624587	0	0
MKL1	57591	broad.mit.edu	37	22	40813466	40813466	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:40813466G>A	uc003ayv.1	-	9	2303	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	MKL1_uc010gyf.1_Missense_Mutation_p.A649V|MKL1_uc003ayw.1_Missense_Mutation_p.A699V|MKL1_uc010gye.1_Missense_Mutation_p.A699V	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	699	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCAGAGGGGGCAGGCGCTGG	0.662000			T	RBM15	acute megakaryocytic leukemia									35			3		0	0	0.115264	0	0
LAP3	51056	broad.mit.edu	37	4	17579127	17579127	+	Silent	SNP	C	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:17579127C>G	uc003gph.1	+	0	201	c.39C>G	c.(37-39)gtC>gtG	p.V13V	LAP3_uc010ieg.3_Silent_p.V13V	NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	13					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGCGAGTAGTCGTCCGACGTC	0.697000														31			4		0	0	0.184627	0	0
ZNF700	90592	broad.mit.edu	37	19	12059966	12059966	+	Nonsense_Mutation	SNP	C	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12059966C>G	uc010xme.2	+	4	1372	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	ZNF700_uc002msu.3_Nonsense_Mutation_p.S376*|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCTGCCAAGTCATTTCAAACA	0.343000														206			63		0	0	0.870114	0	0
SLC25A23	79085	broad.mit.edu	37	19	6452423	6452423	+	Missense_Mutation	SNP	C	T	T	rs61729423	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:6452423C>T	uc002mex.1	-	7	1113	c.971G>A	c.(970-972)cGt>cAt	p.R324H	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Intron	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	324					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCCAGGATACGCCTGGCGCA	0.652000														104			32		0	0	0.750413	0	0
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294000														322			14		0	0	0.592651	0	0
ACTN3	89	broad.mit.edu	37	11	66330622	66330622	+	Silent	SNP	C	T	T	rs79516407	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:66330622C>T	uc021qma.1	+	10	1431	c.918C>T	c.(916-918)taC>taT	p.Y306Y	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	888					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCTGGACTACGTGGCCTTCT	0.632000														222			46		0	0	0.864702	0	0
PXDN	7837	broad.mit.edu	37	2	1657479	1657479	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:1657479C>T	uc002qxa.3	-	15	2089	c.2025G>A	c.(2023-2025)gcG>gcA	p.A675A	PXDN_uc002qxb.1_Silent_p.A675A	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	675					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.R674Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGATTTCTCCCGCCCGTGCCT	0.512000														42			3		0	0	0.115264	0	0
ZNF395	55893	broad.mit.edu	37	8	28314447	28314447	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:28314447C>T	uc003xgt.3	-	5	462	c.-558_splice	c.e5-1		FBXO16_uc003xgu.3_Splice_Site_p.V115_splice|FBXO16_uc003xgv.3_Splice_Site_p.V102_splice	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.						transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCCAGCACACCTGGAAAAAC	0.428000														195			15		0	0	0.457914	0	0
TBX20	57057	broad.mit.edu	37	7	35271146	35271146	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:35271146C>T	uc011kas.2	-	5	1340	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	287						nucleus	DNA binding	p.R287R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGAGGAATCCCGGAATCCTTT	0.378000														194			18		0	0	0.575678	0	0
FASTK	10922	broad.mit.edu	37	7	150776054	150776054	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:150776054C>T	uc003wix.1	-	2	658	c.560G>A	c.(559-561)cGc>cAc	p.R187H	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_5'UTR|FASTK_uc003wiy.1_Missense_Mutation_p.R46H|FASTK_uc003wiz.1_Missense_Mutation_p.R187H|FASTK_uc003wja.1_Intron	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	187					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CGGAGGGAGGCGGAGCCTTCG	0.622000														48			14		0	0	0.435327	0	0
APBA2	321	broad.mit.edu	37	15	29400578	29400578	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:29400578G>A	uc001zck.3	+	11	2227	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_uc010azj.2_Missense_Mutation_p.V663M|APBA2_uc010uat.2_Missense_Mutation_p.V663M|APBA2_uc001zcl.3_Missense_Mutation_p.V663M	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	675	PDZ 2.				nervous system development|protein transport		protein binding	p.V675M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCTTCAGCGTGCAGAATGG	0.607000														351			91		0	0	0.870114	0	0
NLGN3	54413	broad.mit.edu	37	X	70389238	70389238	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:70389238G>A	uc004dzd.2	+	7	2172	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	NLGN3_uc004dzb.3_Missense_Mutation_p.R593Q|NLGN3_uc011mps.2_Missense_Mutation_p.R573Q|NLGN3_uc004dzc.3_Missense_Mutation_p.R476Q|NLGN3_uc004dze.3_Missense_Mutation_p.R411Q	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	613					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAAGGGTCCGAGATCATTAC	0.522000														33			14		0	0	0.435327	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024596	16024596	+	Silent	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:16024596G>A	uc002nbu.2	-	12	1557	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.R507R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	507					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCCTCTGCGCGCAATATCA	0.612000														164			18		0	0	0.557998	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														174			5		0	0	0.184627	0	0
TUSC3	7991	broad.mit.edu	37	8	15601118	15601118	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:15601118C>T	uc003wwt.3	+	7	1278	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	TUSC3_uc003wwu.3_Missense_Mutation_p.R312W|TUSC3_uc022asi.1_Non-coding_Transcript	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	312					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGAAAAAGACGGAGTAAGTC	0.393000														599			19		0	0	0.539581	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														262			5		0	0	0.217242	0	0
CRB2	286204	broad.mit.edu	37	9	126125189	126125189	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:126125189G>A	uc004bnx.1	+	1	232	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	CRB2_uc004bnw.1_Missense_Mutation_p.C47Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	47						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCAGACCCGTGCGCTCCAGGG	0.647000														516			66		0	0	0.870114	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904176	21904176	+	RNA	SNP	G	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:21904176G>T	uc002gza.2	+	0		c.115G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gaagcagcgtggcatcccagc	0.682000														349			8		3.86212e-05	4.02717e-05	0.361761	1	0
HIST1H4B	8366	broad.mit.edu	37	6	26027283	26027283	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26027283C>T	uc003nfr.3	-	0	198	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		184			31		0	0	0.740014	0	0
KIFC3	3801	broad.mit.edu	37	16	57829005	57829005	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57829005C>T	uc002emq.3	-	2	418	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	KIFC3_uc010cdf.3_5'UTR|KIFC3_uc002emo.4_5'UTR|KIFC3_uc010vhy.2_5'UTR|KIFC3_uc002emp.3_Missense_Mutation_p.R74Q|KIFC3_uc010vhz.2_Missense_Mutation_p.R96Q|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	74					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGCTGCACTTCGGGCACTGGA	0.637000														150			25		0	0	0.681144	0	0
GPR114	221188	broad.mit.edu	37	16	57601845	57601845	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57601845T>C	uc002ely.3	+	8	1422	c.899T>C	c.(898-900)cTg>cCg	p.L300P	GPR114_uc002elx.4_Missense_Mutation_p.L300P|GPR114_uc010vhr.2_Missense_Mutation_p.L300P	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	300					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCCTTCCTGCTGAGCCCCGCA	0.617000														174			16		0	0	0.479597	0	0
SAMD7	344658	broad.mit.edu	37	3	169637339	169637339	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:169637339T>C	uc003fgd.3	+	2	320	c.53T>C	c.(52-54)aTc>aCc	p.I18T	SAMD7_uc003fge.3_Missense_Mutation_p.I18T|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATCCCACTGATCCCCTCACCA	0.423000														458			49		0	0	0.870114	0	0
KSR2	283455	broad.mit.edu	37	12	118105363	118105363	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:118105363G>A	uc001two.2	-	4	1055	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	363					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGAGGGAGCGCTCGGACAGC	0.592000														55			18		0	0	0.539581	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														104			4		0	0	0.150653	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055830	85055830	+	RNA	SNP	T	C	C	rs3964365		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:85055830T>C	uc002bkm.2	-	5		c.730A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CTCCTGTTCATGTAGCCTATC	0.552000														96			6		0	0	0.248553	0	0
SSPO	23145	broad.mit.edu	37	7	149480084	149480084	+	Missense_Mutation	SNP	A	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:149480084A>C	uc010lpk.3	+	14	2050	c.2050A>C	c.(2050-2052)Acc>Ccc	p.T684P	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	684	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCTACATCACCCTGGACCC	0.652000														27			10		0	0	0.575678	0	0
AMPH	273	broad.mit.edu	37	7	38433731	38433731	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38433731C>T	uc003tgu.3	-	17	1698	c.1482G>A	c.(1480-1482)gcG>gcA	p.A494A	AMPH_uc003tgv.3_Silent_p.A452A|AMPH_uc003tgt.3_Silent_p.A379A|AMPH_uc003tgw.1_Silent_p.A517A|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	494					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.A494V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGGCCTTCTCCGCCTCTGCTT	0.572000														671			58		0	0	0.870114	0	0
CAMK4	814	broad.mit.edu	37	5	110819841	110819841	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:110819841G>A	uc003kpf.3	+	10	1334	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CAMK4_uc010jbv.3_Missense_Mutation_p.E170K|CAMK4_uc003kpg.3_Missense_Mutation_p.E58K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	367					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGATGGCAACGAGGACATGAA	0.577000														323			32		0	0	0.760397	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117544	117544	+	RNA	SNP	G	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrGL000205.1:117544G>C	uc002kgk.4	+	0		c.922G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGAAATTGCTGTGTGCAGCAT	0.592000														96			16		0	0	0.479597	0	0
ZRANB3	84083	broad.mit.edu	37	2	136071117	136071117	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:136071117G>A	uc002tum.3	-	7	1025	c.908C>T	c.(907-909)gCc>gTc	p.A303V	ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.A303V|ZRANB3_uc002tun.1_Missense_Mutation_p.A243V	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	303						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.V302L(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTCTCCATGGCACCTGAATT	0.373000														558			63		0	0	0.870114	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138107	138107	+	RNA	SNP	T	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrGL000195.1:138107T>C	uc003won.1	+	0		c.141T>C								Homo sapiens cDNA clone IMAGE:3683736.																		GACGCATAGTTAAGGTGCCAG	0.602000														38			8		0	0	0.387290	0	0
ZNF679	168417	broad.mit.edu	37	7	63726845	63726845	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:63726845C>T	uc003tsx.3	+	4	1103	c.834C>T	c.(832-834)agC>agT	p.S278S		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAGCCTTTAGCCGCTCCTCAA	0.438000														207			5		0	0	0.184627	0	0
C15orf2	23742	broad.mit.edu	37	15	24924064	24924064	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:24924064G>A	uc001ywo.3	+	0	3524	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1017					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTATGGATGGTGGGAGCATT	0.537000														245			22		0	0	0.608945	0	0
PTEN	5728	broad.mit.edu	37	10	89692944	89692944	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:89692944G>A	uc001kfb.3	+	4	1460	c.428G>A	c.(427-429)gGc>gAc	p.G143D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	143	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R142W(6)|p.G143fs*4(5)|p.?(5)|p.R55fs*1(5)|p.R142Q(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACATCGGGGCAAATTTTTA	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				467			7		0	0	0.248553	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692255	31692255	+	Silent	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:31692255G>A	uc002ynw.3	-	0	353	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	33						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CACAGCTCACGCTGGTAGGGC	0.552000														298			50		0	0	0.870114	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:148012531C>T	uc001eqq.3	-	11	1460	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Silent_p.K387K|NBPF14_uc021owc.1_Silent_p.K143K|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Silent_p.K631K|NBPF14_uc021owh.1_Silent_p.K387K|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	476	NBPF 5.					cytoplasm		p.K476K(4)|p.K476N(2)|p.E475Q(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000														51			4		0	0	0.150653	0	0
SLC12A7	10723	broad.mit.edu	37	5	1065587	1065587	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1065587G>A	uc003jbu.3	-	17	2314	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	750					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATTAGGGACCGTATGTTCTGC	0.642000														225			6		0	0	0.278610	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				89			34		0	0	0.796494	0	0
HEATR5B	54497	broad.mit.edu	37	2	37259800	37259801	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:37259800_37259801insT	uc002rpp.1	-	21	3428_3429	c.3332_3333insA	c.(3331-3333)aatfs	p.N1111fs		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1111							binding	p.N1111K(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCCCCTGTATTTTTTGCCAG	0.386													---	394	---	---	53	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:155743925_155743926delCA	uc003qqm.3	-	9	1313_1314	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													---	653	---	---	8	---					
SGCZ	137868	broad.mit.edu	37	8	13948053	13948056	+	Frame_Shift_Del	DEL	CTGT	-	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:13948053_13948056delCTGT	uc003wwq.3	-	7	1495_1498	c.835_838delACAG	c.(835-840)acagtgfs	p.T279fs	SGCZ_uc010lss.3_Frame_Shift_Del_p.T232fs	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	266					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGTTCATACACTGTCTGTCGAGAA	0.471													---	463	---	---	48	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:117406_117407insG	uc003zfz.3	-	0	1011_1012	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													---	279	---	---	8	---					
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:21974679delG	uc003zpk.3	-	0	454	c.148delC	c.(148-150)cagfs	p.Q50fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Frame_Shift_Del_p.Q50fs|CDKN2A_uc010miu.3_Frame_Shift_Del_p.Q50fs|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	50			Q -> R (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(2)|p.V28_V51del(2)|p.0(1)|p.I49S(1)|p.Q50R(1)|p.I49T(1)|p.I49I(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	706	---	---	219	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	375	---	---	9	---					
AK123067	0	broad.mit.edu	37	10	43169007	43169008	+	Splice_Site	INS	-	TGTGTG	TGTGTG	rs71014284	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:43169007_43169008insTGTGTG	uc001jah.1	-	5		c.1298_splice	c.e5+1							Homo sapiens cDNA FLJ41072 fis, clone 3NB692005439.																		catttgagctctgtgtgtgtgt	0.485													---	5	---	---	3	---					
AP5B1	91056	broad.mit.edu	37	11	65546346	65546356	+	Frame_Shift_Del	DEL	GCCAGCAAAGA	-	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:65546346_65546356delGCCAGCAAAGA	uc001ofo.4	-	0	1467_1477	c.1437_1447delTCTTTGCTGGC	c.(1435-1449)gctctttgctggcacfs	p.A479fs		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	479							protein binding			lung(1)	1						ATTTGCAGGTGCCAGCAAAGAGCTTCATCCC	0.597													---	102	---	---	9	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	-	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:25671804_25671806delGCT	uc001upy.3	+	0	1529_1531	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	496					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532													---	274	---	---	8	---					
HERC2	8924	broad.mit.edu	37	15	28515875	28515876	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:28515875_28515876insTC	uc001zbj.3	-	9	1328_1329	c.1222_1223insGA	c.(1222-1224)atgfs	p.M408fs	HERC2_uc001zbl.1_Frame_Shift_Ins_p.M103fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	408					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGGAGGCATACAGGGCGTA	0.515													---	318	---	---	14	---					
TP53	7157	broad.mit.edu	37	17	7578464	7578476	+	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	-	-	rs72661116		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7578464_7578476delGGGTGCCGGGCGG	uc002gim.2	-	4	648_660	c.454_466delCCGCCCGGCACCC	c.(454-468)ccgcccggcacccgcfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.3_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.2_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.G154V(87)|p.P151S(66)|p.P152S(44)|p.T155N(42)|p.T155P(33)|p.P151H(27)|p.T155I(26)|p.P152fs*18(25)|p.R156P(24)|p.G154G(24)|p.R156fs*14(21)|p.P153fs*28(21)|p.G154S(18)|p.T155A(18)|p.P153S(16)|p.P152R(14)|p.P152T(14)|p.P151T(14)|p.P153P(14)|p.G154D(12)|p.P151P(12)|p.P153L(12)|p.P152fs*29(10)|p.R156H(10)|p.T155T(10)|p.P152P(10)|p.P152fs*14(10)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P151fs*30(7)|p.P151L(7)|p.P151R(7)|p.R156S(6)|p.R156fs*25(6)|p.R156G(6)|p.G154C(6)|p.G154I(6)|p.T150fs*16(6)|p.P153T(6)|p.G154fs*27(6)|p.?(5)|p.T155fs*23(4)|p.P152fs*28(4)|p.R156C(4)|p.G154fs*16(4)|p.G154fs*14(4)|p.R156_I162delRVRAMAI(4)|p.P152A(4)|p.T155S(4)|p.T155_R156insDSTPPPGT(4)|p.P153fs*26(4)|p.P153fs*22(4)|p.G61V(3)|p.R156R(3)|p.R156L(3)|p.G22V(3)|p.R156_V157del(2)|p.P152fs*27(2)|p.G154_R156delGTR(2)|p.T155fs*26(2)|p.T155fs*25(2)|p.T155_A161delTRVRAMA(2)|p.Q144_G154del11(2)|p.D148_T155delDSTPPPGT(2)|p.R156_A161delRVRAMA(2)|p.R156del(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.T150_P153delTPPP(2)|p.G154A(2)|p.P152del(2)|p.P153_G154insX(2)|p.P152_P153del(2)|p.R156_R158delRVR(2)|p.P20L(2)|p.P152_P153insXXX(2)|p.T155_R156delTR(2)|p.P59L(2)|p.P153fs*16(2)|p.P151_V173del23(2)|p.R156_A161del(2)|p.P153fs*20(2)|p.G154fs*22(2)|p.P153F(2)|p.P153A(2)|p.P153H(2)|p.T155fs*15(2)|p.T23_R24insDSTPPPGT(1)|p.G61C(1)|p.R156fs*?(1)|p.P151del(1)|p.R156fs*20(1)|p.R156_V157insV(1)|p.T57fs*16(1)|p.T62P(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.T150_P151delTP(1)|p.P59R(1)|p.G22C(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAA	0.606		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	271	---	---	37	---					
DNAH2	146754	broad.mit.edu	37	17	7707727	7707728	+	In_Frame_Ins	INS	-	GAG	GAG			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7707727_7707728insGAG	uc002giu.1	+	57	9140_9141	c.9126_9127insGAG	c.(9124-9129)insGAG	p.3044_3045insE	DNAH2_uc010cnm.1_In_Frame_Ins_p.21_22insE	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3044	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCAGTGTGAGGAGTACCT	0.579													---	179	---	---	48	---					
ZSWIM4	65249	broad.mit.edu	37	19	13941586	13941587	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:13941586_13941587insC	uc002mxh.1	+	12	2881_2882	c.2692_2693insC	c.(2692-2694)gcafs	p.A898fs	ZSWIM4_uc010xng.1_Frame_Shift_Ins_p.A821fs	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	898							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCCTTAGGGGCACGCCGGGCC	0.693													---	451	---	---	11	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38882864_38882866delCCT	uc002oim.3	+	2	363_365	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													---	136	---	---	12	---					
