Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DAGLA	747	broad.mit.edu	37	11	61511257	61511257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:61511257C>T	ENST00000257215.5	+	20	2541	c.2425C>T	c.(2425-2427)Ctc>Ttc	p.L809F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	809					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCCCCCAGCCTCCACGCTGT	0.642000													7	213					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98655215	98655215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:98655215C>T	ENST00000261574.5	+	16	1655	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L	IPO5_ENST00000490680.1_Missense_Mutation_p.P474L|IPO5_ENST00000539640.1_Missense_Mutation_p.P349L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	474					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGACTGTCCCAAGTCACTA	0.453000													36	66					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62488868	62488868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62488868C>T	ENST00000301785.5	-	9	1702	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D504N	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	504					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTTTGGGGTCCATCTCTGGC	0.428000													9	160					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618260	134618260	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:134618260G>A	ENST00000361675.2	+	5	969	c.740G>A	c.(739-741)gGt>gAt	p.G247D	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	247					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AGGGAACAAGGTTCAGATGAG	0.433000													18	45					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140093459	140093459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140093459C>T	ENST00000409012.4	-	1	1791	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.A508T	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	569					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GAGGAGCCAGCCTTGGTGAGG	0.627000													18	42					0	0	1	0	0
TOR1A	1861	broad.mit.edu	37	9	132576357	132576357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:132576357C>T	ENST00000351698.4	-	5	941	c.893G>A	c.(892-894)aGc>aAc	p.S298N		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	298					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AGCCACTCTGCTTACAATGTC	0.418000													6	213					0	0	1	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764387	22764387	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22764387G>A	ENST00000390299.2	+	0	180																											CCTGCACTGGGAGCAGCTCCA	0.607000													7	249					0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207040737	207040737	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207040737C>T	ENST00000367098.1	+	5	750	c.387C>T	c.(385-387)caC>caT	p.H129H	IL20_ENST00000391930.2_Intron|IL20_ENST00000367096.3_Silent_p.H129H			Q9NYY1	IL20_HUMAN	interleukin 20	129					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AGCATGCCCACATGACATGCC	0.413000													30	57					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433293	55433293	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55433293G>A	ENST00000314259.3	+	1	680	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T217T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CGTCCTACACGGTCATCCTAT	0.522000													37	78					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329246	33329246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33329246G>A	ENST00000374796.2	-	12	7384	c.4814C>T	c.(4813-4815)cCc>cTc	p.P1605L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1605L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1605					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGTTGTGATGGGATTGGAAGT	0.468000													8	94					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52218679	52218679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:52218679G>A	ENST00000282588.6	+	18	2823	c.2365G>A	c.(2365-2367)Gtt>Att	p.V789I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAATGGGCCTGTTCTTGATGA	0.343000													7	97					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185385	127185385	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:127185385C>T	ENST00000371124.3	-	1	997	c.801G>A	c.(799-801)caG>caA	p.Q267Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	267						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGATGCCCAGCTGGTCAGGTG	0.507000													21	202					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39125632	39125632	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39125632G>A	ENST00000545173.2	+	7	575		c.e7-1		EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000538434.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K						regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCACCTGCAGACAGCCAGCT	0.567000											OREG0025450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					0	0	1	0	0
C2ORF15	150590	broad.mit.edu	37	2	99767151	99767151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:99767151A>G	ENST00000302513.2	+	4	868	c.232A>G	c.(232-234)Acc>Gcc	p.T78A	C2ORF15_ENST00000409684.1_Missense_Mutation_p.T78A|TSGA10_ENST00000393483.3_Intron	NM_144706.2	NP_653307.1				78																	ATTTCAAAACACCAAGAAAAT	0.398000													22	43					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89172513	89172513	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:89172513C>T	ENST00000332810.3	+	3	748	c.597C>T	c.(595-597)ttC>ttT	p.F199F	AEN_ENST00000379231.3_Silent_p.F199F	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	199	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACAACGACTTCCAGGCGCTCA	0.627000													38	72					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103130692	103130692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:103130692C>T	ENST00000295269.4	+	8	2160	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	568					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						agctctacagctttctccata	0.428000													6	92					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46305860	46305860	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:46305860C>T	ENST00000359930.4	-	9	2063	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	SULF2_ENST00000484875.1_Silent_p.K404K|SULF2_ENST00000361612.4_Silent_p.K404K|SULF2_ENST00000467815.1_Silent_p.K404K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	404					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGACCCTCATCTTCTTTTTCA	0.617000													22	45					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89473905	89473905	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:89473905C>T	ENST00000361175.4	+	4	855	c.486C>T	c.(484-486)ggC>ggT	p.G162G	PAPSS2_ENST00000456849.1_Silent_p.G162G|PAPSS2_ENST00000427144.2_Silent_p.G166G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	162					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ACGTAAAAGGCCTCTATAAAA	0.433000													7	107					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688700	23688700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23688700C>T	ENST00000314011.4	-	4	1311	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	ZNF436_ENST00000374608.3_Missense_Mutation_p.C392Y	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACACTCATTACACTCATAAGG	0.468000													15	95					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46656610	46656610	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:46656610G>A	ENST00000181383.4	-	4	366	c.350C>T	c.(349-351)gCa>gTa	p.A117V	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.A117V|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	117					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATAGTACGATGCGGAGGCTCG	0.438000													6	30					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51431431	51431431	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51431431G>A	ENST00000323686.4	+	1	2701	c.2601G>A	c.(2599-2601)caG>caA	p.Q867Q		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	867	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTACCTCCAGTCAGCACTAA	0.567000													46	79					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12858544	12858544	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:12858544G>A	ENST00000155926.4	+	1	1530	c.111G>A	c.(109-111)caG>caA	p.Q37Q	TRIB2_ENST00000405331.3_Silent_p.Q37Q|TRIB2_ENST00000381465.2_Intron	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	37					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCCCAGCCAGAGTTTCAGCC	0.542000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	75					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220162000	220162000	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:220162000C>T	ENST00000366923.3	-	19	2976	c.2707G>A	c.(2707-2709)Gta>Ata	p.V903I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	903	3 X 57 AA approximate repeats.|WHEP-TRS 3.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCAAAAAGTACTTTCGCTTCT	0.403000													4	64					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77574738	77574738	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:77574738G>A	ENST00000377453.3	+	4	2150	c.858G>A	c.(856-858)agG>agA	p.R286R		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	237					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGTGTTAAGGACCTTTAACA	0.383000													10	67					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11293482	11293482	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11293482G>A	ENST00000361445.4	-	15	2470	c.2394C>T	c.(2392-2394)gtC>gtT	p.V798V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	798					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTGTTGCCAGGACATTATTGA	0.398000													38	62					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28695157	28695157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:28695157C>T	ENST00000416984.2	-	4	694	c.335G>A	c.(334-336)gGc>gAc	p.G112D	INTS9_ENST00000521777.1_Missense_Mutation_p.G109D|INTS9_ENST00000397363.4_Missense_Mutation_p.G27D|INTS9_ENST00000521022.1_Missense_Mutation_p.G133D	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	133					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTCTCACCTGCCGATCTGGAC	0.542000													8	24					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053744	95053744	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:95053744G>T	ENST00000329597.7	+	3	255	c.45G>T	c.(43-45)caG>caT	p.Q15H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.Q15H|SERPINA5_ENST00000554866.1_Missense_Mutation_p.Q15H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.Q15H	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	15					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCAGCCCTCAGGGGGCCTCCC	0.597000													18	26					6.49762e-13	6.52732e-13	1	1	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366756	184366756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:184366756C>T	ENST00000504169.1	+	2	548	c.341C>T	c.(340-342)aCc>aTc	p.T114I	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.T114I|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.T114I	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	114					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GATGCTCCAACCTATACAACA	0.363000													6	38					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347759	140347759	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140347759C>T	ENST00000289269.5	+	1	1940	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		470	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAGCTTCCTGGAGGACTC	0.498000													4	178					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42872708	42872708	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:42872708C>T	ENST00000025301.2	+	7	566	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	131					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGAGTGTCACCTACATCACC	0.338000													36	20					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390486	27390486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:27390486G>A	ENST00000379214.4	-	18	2227	c.1784C>T	c.(1783-1785)aCt>aTt	p.T595I	LGR4_ENST00000389858.4_Missense_Mutation_p.T571I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	595						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATCAAGAAAAGTTAGGATGCC	0.433000													16	30					0	0	1	0	0
C8orf58	541565	broad.mit.edu	37	8	22458663	22458663	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:22458663C>T	ENST00000409586.3	+	2	429	c.309C>T	c.(307-309)gcC>gcT	p.A103A	C8orf58_ENST00000289989.5_Silent_p.A103A|C8orf58_ENST00000453427.2_3'UTR	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGCCCCCCGCCCAGGTAGGCC	0.657000													5	14					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	46001326	46001326	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:46001326G>A	ENST00000257821.4	-	6	968	c.345C>T	c.(343-345)aaC>aaT	p.N115N	PHF21A_ENST00000323180.6_Silent_p.N115N|PHF21A_ENST00000418153.2_Silent_p.N115N	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	115					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AAGCAGTCAGGTTGGGAGAGg	0.498000													21	40					0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90210347	90210347	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:90210347G>A	ENST00000300055.5	-	8	1194	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	PLIN1_ENST00000430628.2_Silent_p.L343L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	343					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGGTGGTCTGGAGGGTCTTCT	0.652000													5	65					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207534	148207534	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:148207534C>T	ENST00000305988.4	+	1	1379	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	380					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGTGTGAAGACCTCCCAGGCA	0.488000													17	37					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54978524	54978524	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:54978524G>A	ENST00000217109.4	+	6	1389	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	346					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCTGTGGCAGGCGCGGGTTTA	0.507000													18	37					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743130	234743130	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:234743130C>T	ENST00000366609.3	-	2	1547	c.1517G>A	c.(1516-1518)tGc>tAc	p.C506Y	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.C490Y|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	506	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCAGAGGGTGCAGCACAGCGG	0.637000													31	23					0	0	1	0	0
ANAPC11	51529	broad.mit.edu	37	17	79857235	79857235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:79857235G>A	ENST00000357385.3	+	3	363	c.227G>A	c.(226-228)gGg>gAg	p.G76E	ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000578544.1_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCAACGCCTGGGCAGCACACC	0.602000													14	33					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128976393	128976393	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:128976393G>A	ENST00000314797.6	+	9	764	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	220					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.R220R(1)									AGGTCACACGGCATGGCCTTA	0.542000													4	164					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14977484	14977484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:14977484C>T	ENST00000453695.2	-	6	526	c.82G>A	c.(82-84)Gag>Aag	p.E28K	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E148K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E33K|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E148K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E28K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E33K|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E33K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E28K	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	148					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGCAGAAGCTCCATTCTAGCA	0.428000								Non-homologous end-joining					11	260					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113698036	113698036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113698036C>T	ENST00000003302.4	-	11	1174	c.1106G>A	c.(1105-1107)aGa>aAa	p.R369K	USP28_ENST00000260188.5_Missense_Mutation_p.R369K|USP28_ENST00000537706.1_Missense_Mutation_p.R369K|USP28_ENST00000545540.1_Missense_Mutation_p.R244K|USP28_ENST00000544967.1_Missense_Mutation_p.R77K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	369					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R369I(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACTCAAATCTTGAGAGTTC	0.368000													18	35					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858640	9858640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:9858640C>T	ENST00000396573.2	-	14	3070	c.2761G>A	c.(2761-2763)Gct>Act	p.A921T	GRIN2A_ENST00000535259.1_Missense_Mutation_p.A764T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A921T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A921T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A921T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A921T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	921					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGTCAGCAGCTCTTTTGGGT	0.468000													62	123					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162345	47162345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47162345C>T	ENST00000409792.3	-	3	3823	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGAGAAGTCCCAACCTAAG	0.438000			"""N, F, S, Mis"""		clear cell renal carcinoma								41	74					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38813727	38813727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:38813727C>T	ENST00000310301.4	-	12	1054	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.D309N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	334					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AAATGATAATCTCTACATTCA	0.383000													10	270					0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113068685	113068685	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:113068685C>T	ENST00000358039.4	-	15	1982	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ST7L_ENST00000544629.1_Missense_Mutation_p.E495K|ST7L_ENST00000360743.4_Missense_Mutation_p.E529K|ST7L_ENST00000369669.1_Missense_Mutation_p.E377K|WNT2B_ENST00000369686.5_3'UTR|ST7L_ENST00000490067.1_Missense_Mutation_p.E543K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	560					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		tgtgtattctccTCAAAGCCT	0.478000													37	81					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25325844	25325844	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:25325844C>T	ENST00000330560.3	+	6	1127	c.650C>T	c.(649-651)gCt>gTt	p.A217V	CDCA2_ENST00000380665.3_Missense_Mutation_p.A202V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	217					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTGACGGATGCTGAAGGAAAA	0.438000													21	51					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954822	30954822	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30954822C>T	ENST00000376296.3	+	2	1111	c.870C>T	c.(868-870)tcC>tcT	p.S290S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	290	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCTGAGTCCAGCACACCCT	0.597000													89	155					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36002313	36002313	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36002313C>T	ENST00000339686.3	-	5	1094	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DMKN_ENST00000424570.2_Splice_Site_p.W306*|DMKN_ENST00000451297.2_Splice_Site_p.W306*|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000447113.2_Splice_Site_p.W306*|DMKN_ENST00000418261.1_Splice_Site_p.W306*|DMKN_ENST00000440396.1_Splice_Site_p.W306*	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	306	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAACTCACCCAGGAGGACT	0.647000													3	25					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35674236	35674236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35674236G>A	ENST00000378357.4	+	1	384	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	94	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGAGGAGGATCTACCTGA	0.537000													11	21					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86863308	86863308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:86863308G>A	ENST00000395184.1	+	5	947	c.481G>A	c.(481-483)Gac>Aac	p.D161N	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D161N|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D68N|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D66N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	161	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GCAGTGCGTGGACTTTATCCG	0.483000													18	40					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805734	19805734	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:19805734G>A	ENST00000311322.8	+	2	602	c.132G>A	c.(130-132)agG>agA	p.R44R	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	44					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTGCCCTAAGGACCCCTGAAG	0.438000													17	111					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50894648	50894648	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50894648G>A	ENST00000380817.3	-	31	4446	c.4263C>T	c.(4261-4263)atC>atT	p.I1421I	SBF1_ENST00000348911.6_Silent_p.I1396I|SBF1_ENST00000390679.3_Silent_p.I1395I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGACCTGGATCAGCCACT	0.632000													3	20					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207790086	207790086	+	Silent	SNP	C	C	T	rs55970238		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207790086C>T	ENST00000367049.4	+	41	6828	c.6828C>T	c.(6826-6828)gaC>gaT	p.D2276D	CR1_ENST00000400960.2_Silent_p.D1826D|CR1_ENST00000367051.1_Silent_p.D1826D|CR1_ENST00000367052.1_Silent_p.D1826D|CR1_ENST00000367053.1_Silent_p.D1826D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1826					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACAAGTGACCCTCAAGGGA	0.517000													10	120					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129380893	129380893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129380893C>T	ENST00000370978.4	-	3	271	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCGTCATCCTCATCCTGAGTT	0.368000													83	127					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123751952	123751952	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123751952G>A	ENST00000223642.1	-	24	3077	c.3048C>T	c.(3046-3048)gtC>gtT	p.V1016V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1016					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGAATACTGGGACAACGCTCA	0.413000													4	45					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149511499	149511499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:149511499G>A	ENST00000258484.6	+	4	497	c.463G>A	c.(463-465)Gta>Ata	p.V155I		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	155					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CATTTAGCTTGTAACACTTCA	0.348000													5	13					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155109372	155109372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155109372G>A	ENST00000368404.4	+	3	289	c.227G>A	c.(226-228)gGt>gAt	p.G76D	SLC50A1_ENST00000368401.5_Intron|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000303343.8_Missense_Mutation_p.G76D	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	76	MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						AACACAGTGGGTGCTGCGCTT	0.582000													13	29					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67331560	67331560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67331560C>T	ENST00000304372.5	-	7	1048	c.993G>A	c.(991-993)tgG>tgA	p.W331*		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	331						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAGTCCCCAGCCAGTTCCTGC	0.532000													22	41					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040203	3040203	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:3040203G>A	ENST00000448120.2	+	6	544	c.493G>A	c.(493-495)Gat>Aat	p.D165N	TULP3_ENST00000397132.2_Splice_Site_p.D165N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	165					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCCTTTCAGGATACAGGCAC	0.483000													6	150					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927148	4927148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4927148C>T	ENST00000320785.5	+	23	3371	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1005	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCTCCAACCCCCTGAGGAG	0.687000													15	37					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322810	4322810	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:4322810G>A	ENST00000337872.4	+	8	2186	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T	ZBTB49_ENST00000355834.3_Missense_Mutation_p.A567T|ZBTB49_ENST00000538529.1_Missense_Mutation_p.A172T	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACAGCCTCAGGCCTATGCTTA	0.567000													11	59					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857524	101857524	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101857524G>T	ENST00000604957.1	+	1	3077	c.455G>T	c.(454-456)aGa>aTa	p.R152I	ARMCX5_ENST00000537008.1_Missense_Mutation_p.R152I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.R152I|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.R152I|ARMCX5_ENST00000536530.1_Missense_Mutation_p.R152I|ARMCX5_ENST00000541409.1_Missense_Mutation_p.R152I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	152							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGACCTGACAGAAGGGAAGAG	0.468000													53	107					4.17463e-26	4.20139e-26	1	1	0
HSF4	3299	broad.mit.edu	37	16	67202739	67202739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67202739C>T	ENST00000264009.8	+	12	2053	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	HSF4_ENST00000584272.1_Missense_Mutation_p.P333L|HSF4_ENST00000421453.1_Missense_Mutation_p.P333L|HSF4_ENST00000521374.1_Missense_Mutation_p.P363L	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	363					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACAGGGGGCCTCTGGGCCTG	0.562000													4	72					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55231238	55231238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:55231238G>A	ENST00000251091.5	+	6	1617	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N	SAMD4A_ENST00000555192.1_Missense_Mutation_p.D117N|SAMD4A_ENST00000357634.3_Missense_Mutation_p.D525N|SAMD4A_ENST00000392067.3_Missense_Mutation_p.D526N|SAMD4A_ENST00000554335.1_Missense_Mutation_p.D526N	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	526					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACAGCTCATAGACAAGTGTCT	0.338000													8	99					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27358475	27358475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:27358475G>A	ENST00000521400.1	+	2	564	c.134G>A	c.(133-135)gGa>gAa	p.G45E	EPHX2_ENST00000518379.1_Missense_Mutation_p.G45E|EPHX2_ENST00000380476.3_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000517536.1_Missense_Mutation_p.G45E	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	45	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CAGAAAGGGGGACCAGAGGGT	0.498000													19	37					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569283	11569283	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11569283G>A	ENST00000359227.3	-	4	901	c.477C>T	c.(475-477)gaC>gaT	p.D159D	ELAVL3_ENST00000438662.2_Silent_p.D159D	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	159	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTGTGACCTGGTCCACCAGGA	0.632000													23	45					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54964068	54964068	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:54964068G>A	ENST00000375006.3	-	11	1258	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	PFKFB1_ENST00000374992.2_Silent_p.V196V|PFKFB1_ENST00000545676.1_Silent_p.V331V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	396	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GGCACCGCATGACAGCCTGGT	0.483000													5	22					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17622477	17622477	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:17622477C>T	ENST00000377813.1	-	5	2452	c.2149G>A	c.(2149-2151)Gct>Act	p.A717T	RRBP1_ENST00000246043.4_Missense_Mutation_p.A717T|RRBP1_ENST00000377807.2_Missense_Mutation_p.A284T|RRBP1_ENST00000360807.4_Missense_Mutation_p.A284T|RRBP1_ENST00000455029.2_Missense_Mutation_p.A58T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	717					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.L275_V285delLLATEQEDAAV(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGGCGACAGCCGCATCTTCC	0.572000													11	176					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64095256	64095256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:64095256G>A	ENST00000371083.4	+	2	829	c.461G>A	c.(460-462)gGa>gAa	p.G154E	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.G136E	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	136					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTTCTAATGGAGGTGAGTTT	0.428000													9	63					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365283	30365283	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30365283C>T	ENST00000305596.3	-	4	489	c.314G>A	c.(313-315)gGc>gAc	p.G105D	CD2BP2_ENST00000569466.1_Missense_Mutation_p.G105D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	105					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GAAGTAGTTGCCATCGGCATC	0.627000													4	80					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157840018	157840018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:157840018G>A	ENST00000464171.1	+	2	250	c.125G>A	c.(124-126)aGg>aAg	p.R42K	RSRC1_ENST00000312179.6_Missense_Mutation_p.R42K|RSRC1_ENST00000480820.1_Missense_Mutation_p.R42K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R42K|RSRC1_ENST00000295930.3_Missense_Mutation_p.R42K	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	42	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAAGGAGGAAGGAAATCAAGA	0.378000													3	27					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71144548	71144548	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71144548G>A	ENST00000396396.1	+	11	1909	c.1680G>A	c.(1678-1680)cgG>cgA	p.R560R		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	560					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAACTGGCCGGAGGGGACCCA	0.507000													11	29					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102059	168102059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:168102059C>T	ENST00000409195.1	+	9	4246	c.4157C>T	c.(4156-4158)tCt>tTt	p.S1386F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1164F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1386F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1211					actin cytoskeleton organization	cell junction	actin binding	p.S1386C(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTAGTTCTGTCAGATAC	0.343000													18	24					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132396	37132396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:37132396G>A	ENST00000361487.6	+	2	524	c.299G>A	c.(298-300)tGg>tAg	p.W100*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.W100*|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	100	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ATCTTCGCCTGGGAGATCCGG	0.637000													51	73					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8975886	8975886	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:8975886G>A	ENST00000299698.7	+	2	351	c.171G>A	c.(169-171)gaG>gaA	p.E57E	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTACTCTGGAGACCAAGGACA	0.478000													10	64					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96377691	96377691	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:96377691G>A	ENST00000261208.3	-	15	1653	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	HAL_ENST00000538703.1_Missense_Mutation_p.P429S|HAL_ENST00000541929.1_Missense_Mutation_p.P221S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	429					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAAGATACAGGATTATCTGTT	0.348000													26	55					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128302	42128302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42128302G>A	ENST00000401548.3	+	10	1190	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.E124K|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	384							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAACAACATAGAGCTGCACAA	0.547000													5	7					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79385607	79385607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:79385607C>T	ENST00000264895.6	+	49	7339	c.6899C>T	c.(6898-6900)aCt>aTt	p.T2300I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2299					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGACTCAGACTTTCCATATC	0.512000													17	50					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107419802	107419802	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:107419802G>A	ENST00000429433.2	-	4	842	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	BEND3_ENST00000369042.1_Silent_p.L65L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	65										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGTCTAGCAGGCCATCGCTG	0.592000													8	47					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845030	123845030	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:123845030C>T	ENST00000369005.1	+	4	3355	c.3015C>T	c.(3013-3015)agC>agT	p.S1005S	TACC2_ENST00000515603.1_Silent_p.S1005S|TACC2_ENST00000515273.1_Silent_p.S1005S|TACC2_ENST00000334433.3_Silent_p.S1005S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.S1005S|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1005						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGAAGGCAGCCAGCATGAAG	0.522000													7	27					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096376	143096376	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:143096376C>T	ENST00000275815.3	-	5	1052	c.966G>A	c.(964-966)ggG>ggA	p.G322G		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	322	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGGGGCCCTCCCCGGGAGCTC	0.632000													16	55					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14200166	14200166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:14200166C>T	ENST00000285021.7	-	9	1431	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	XPC_ENST00000449060.2_Missense_Mutation_p.G369E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	406					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGCTTGTCTCCTGGGCCCTC	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				33	108					0	0	1	0	0
GSTO1	9446	broad.mit.edu	37	10	106019532	106019532	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:106019532G>A	ENST00000539281.1	+	3	614	c.258G>A	c.(256-258)aaG>aaA	p.K86K	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Silent_p.K114K|GSTO1_ENST00000369713.5_Silent_p.K114K	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	114	GST N-terminal.|Glutathione binding.		S -> C (in dbSNP:rs11509436).		xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	CTTGCCAGAAGATGATCTTAG	0.428000													26	50					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93103238	93103238	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:93103238G>A	ENST00000298050.3	+	6	532		c.e6-1			NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67											endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTTTTTAAAAGGAATTTAGAG	0.294000													3	7					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444826	49444826	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:49444826C>T	ENST00000301067.7	-	10	2639	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAACAAGGGCAGCTCCTCAG	0.637000													28	48					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19393322	19393322	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:19393322C>T	ENST00000263208.5	-	5	640	c.384G>A	c.(382-384)cgG>cgA	p.R128R	HIRA_ENST00000546308.1_Silent_p.R84R|HIRA_ENST00000340170.4_Silent_p.R128R|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Silent_p.R84R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	128					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGAATGATTCCGGAGGATAG	0.617000													13	35					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32009401	32009401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32009401G>A	ENST00000432498.1	+	25	2927	c.2534G>A	c.(2533-2535)tGg>tAg	p.W845*	SFI1_ENST00000540643.1_Nonsense_Mutation_p.W821*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.W723*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.W876*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.W794*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.W794*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.W723*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	876					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGGCTGCAGTGGGCGCTCCAG	0.687000													4	26					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44012263	44012263	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44012263G>A	ENST00000427076.1	-	0	1035				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2																						CCCTTGTAAGGCAGACCTTTC	0.597000													6	21					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304063	11304063	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11304063C>T	ENST00000432929.2	-	4	1053	c.693G>A	c.(691-693)aaG>aaA	p.K231K	KANK2_ENST00000355150.5_Silent_p.K231K|KANK2_ENST00000589359.1_Silent_p.K231K|KANK2_ENST00000586659.1_Silent_p.K231K|KANK2_ENST00000589894.1_Silent_p.K231K	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	231										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTTCTGGCTCTTAAGTTGTA	0.647000													10	36					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121289576	121289576	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121289576G>A	ENST00000334384.3	+	1	26	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAACAGAATGGCCCCAGAGAA	0.458000													5	83					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38403727	38403727	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:38403727G>A	ENST00000361085.5	+	5	405	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF37A_ENST00000351773.3_Silent_p.E20E|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A		KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCACTCAAGAGGAGTGGCAGC	0.478000													8	126					0	0	1	0	0
CMC4	100272147	broad.mit.edu	37	X	154290238	154290238	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:154290238C>A	ENST00000369484.3	-	3	765	c.87G>T	c.(85-87)caG>caT	p.Q29H	CMC4_ENST00000369479.1_Missense_Mutation_p.Q29H	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		GGATGACAGCCTGACACTTTG	0.438000													41	66					3.61848e-18	3.63834e-18	1	1	0
SH2D6	284948	broad.mit.edu	37	2	85663643	85663643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:85663643C>T	ENST00000389938.2	+	20	1684	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.L156F			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	156	SH2.									central_nervous_system(1)|lung(2)	3						CCCTCTGCCCCTTGTGGACAG	0.632000													3	43					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46725420	46725420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46725420G>A	ENST00000454366.1	+	11	2304	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	679					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAACACTCCAGACATGAATAA	0.527000													4	87					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014924	75014924	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75014924C>T	ENST00000379727.3	-	2	713	c.515G>A	c.(514-516)aGc>aAc	p.S172N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.S172N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S172N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S172N|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	172					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTGCAACGTGCTTATCAGGAC	0.542000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				26	35					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12386823	12386823	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12386823C>T	ENST00000356109.5	-	3	340	c.222G>A	c.(220-222)aaG>aaA	p.K74K	ZNF44_ENST00000355684.5_Silent_p.K26K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGTAGAGATTCTTCTGTGATG	0.438000													13	232					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574954	60574954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:60574954G>A	ENST00000406854.1	+	2	1152	c.598G>A	c.(598-600)Gcg>Acg	p.A200T	PCNXL4_ENST00000391611.2_Missense_Mutation_p.A200T|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A200T|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron					pecanex-like 4 (Drosophila)																		TACAGAGACTGCGACTTTCCA	0.373000													18	60					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829117	45829117	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:45829117C>T	ENST00000263736.4	-	3	248	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	62					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAGGCATCCTCTTTGGTTTGG	0.522000													12	125					0	0	1	0	0
LLPH	84298	broad.mit.edu	37	12	66517731	66517731	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:66517731G>A	ENST00000266604.2	-	3	349	c.279C>T	c.(277-279)taC>taT	p.Y93Y	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Silent_p.Y93Y|TMBIM4_ENST00000556010.1_3'UTR	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	93	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCATATTGGGTACTGTCCAT	0.388000													7	108					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127774521	127774521	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:127774521C>T	ENST00000243253.3	+	4	331	c.147C>T	c.(145-147)ccC>ccT	p.P49P	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Silent_p.P55P	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	49					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CCCAGATTCCCCTGTTTGGGA	0.483000													51	105					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721939	135721939	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:135721939G>A	ENST00000264977.3	+	2	2216	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	533					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTTGCGAAGGGTAAAAACT	0.378000													8	47					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075360	83075360	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:83075360G>A	ENST00000369750.3	+	2	1299	c.682G>A	c.(682-684)Gat>Aat	p.D228N	TPBG_ENST00000535040.1_Missense_Mutation_p.D228N|TPBG_ENST00000543496.1_Missense_Mutation_p.D228N			Q13641	TPBG_HUMAN	trophoblast glycoprotein	228					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCTGCCGCGGGATGTGCTGGC	0.627000													11	108					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899680	4899680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4899680C>T	ENST00000404991.1	-	1	1945	c.1759G>A	c.(1759-1761)Gtt>Att	p.V587I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	587					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTTAATGCAACCCCTGAACTT	0.453000													4	98					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160262978	160262978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160262978C>T	ENST00000241704.7	-	27	3030	c.2801G>A	c.(2800-2802)gGc>gAc	p.G934D	COPA_ENST00000368069.3_Missense_Mutation_p.G943D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	934					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGAAAGAGCCTGCCAGGAT	0.463000													5	122					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	19001985	19001985	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:19001985G>A	ENST00000379942.4	-	1	731	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	22					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGTAACACAGGATGGTTTGCT	0.637000													30	38					0	0	1	0	0
RFESD	317671	broad.mit.edu	37	5	94990061	94990061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:94990061G>A	ENST00000458310.1	+	5	1690	c.359G>A	c.(358-360)gGa>gAa	p.G120E	RFESD_ENST00000513950.2_Intron|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.G120E|RFESD_ENST00000311364.4_Missense_Mutation_p.G67E	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	67	Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		TTACATTTGGGAGATATAGAG	0.254000													23	40					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596816	136596816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:136596816C>T	ENST00000531224.1	-	6	1958	c.1706G>A	c.(1705-1707)aGg>aAg	p.R569K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R567K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R569K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R567K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R396K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R567K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	569					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCAAGCAGCCTGTCTTTAGT	0.393000													4	159					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025316	5025316	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:5025316C>T	ENST00000256495.3	+	5	1781	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	393						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TCCGTCGACTCTTCTGTCTTG	0.532000													6	100					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21553048	21553048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21553048G>A	ENST00000298694.4	+	18	4053	c.3926G>A	c.(3925-3927)gGg>gAg	p.G1309E	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.G1309E			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1309	PH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCTGAAGGGGGGTCAGAGATG	0.512000													6	138					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10578067	10578067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10578067C>T	ENST00000380702.2	+	16	2365	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	PDE4A_ENST00000352831.6_Missense_Mutation_p.P811S|PDE4A_ENST00000592685.1_Missense_Mutation_p.P789S|PDE4A_ENST00000344979.3_Missense_Mutation_p.P572S|PDE4A_ENST00000293683.5_Missense_Mutation_p.P785S|PDE4A_ENST00000440014.2_Missense_Mutation_p.P750S			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	811					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCACAGCAGCCCCTCTGCCCT	0.637000													20	108					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207481	53207481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53207481G>A	ENST00000551956.1	-	1	854	c.362C>T	c.(361-363)cCc>cTc	p.P121L	KRT4_ENST00000293774.4_Missense_Mutation_p.P195L|KRT4_ENST00000458244.2_Missense_Mutation_p.P101L			B4DRS2	B4DRS2_HUMAN	keratin 4	121						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACGTGGAGGGGGGTGAGCAA	0.582000													15	95					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32229949	32229949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32229949C>T	ENST00000400246.1	+	25	2295	c.2153C>T	c.(2152-2154)tCt>tTt	p.S718F	DEPDC5_ENST00000400249.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S612F|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S640F|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S640F|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S718F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S718F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S718F			O75140	DEPD5_HUMAN	DEP domain containing 5	718					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACAGTGTTTCTACCTCTCCA	0.493000													85	205					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155740897	155740897	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155740897C>T	ENST00000437809.1	-	19	2729	c.2607G>A	c.(2605-2607)aaG>aaA	p.K869K	GON4L_ENST00000361040.5_Silent_p.K869K|GON4L_ENST00000368331.1_Silent_p.K869K|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.K869K	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	869					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTTGAGGTTCTTGATTCTCA	0.438000													18	112					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583322	179583322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179583322C>T	ENST00000589042.1	-	85	24735	c.24511G>A	c.(24511-24513)Gcc>Acc	p.A8171T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6927T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A7854T|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7854	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAAGGTGGCTGGTTCTATA	0.418000													9	34					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697344	109697344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:109697344G>A	ENST00000465301.2	+	3	3745	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	RGAG1_ENST00000540313.1_Missense_Mutation_p.E1167K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1167								p.E1167*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTGGAGGAAGAGATGGAGAT	0.512000													30	50					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93575798	93575798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:93575798G>A	ENST00000370298.4	+	2	306	c.17G>A	c.(16-18)gGg>gAg	p.G6E	MTF2_ENST00000370303.4_Missense_Mutation_p.G6E|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000540243.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	6						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GACTCTACAGGGGCAGGTAAT	0.393000													22	55					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113568230	113568230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:113568230G>A	ENST00000509061.1	+	8	917	c.614G>A	c.(613-615)gGc>gAc	p.G205D	MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.G198D|MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.G198D	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	198	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGAAAACCTGGCATATTTCCT	0.308000													18	66					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24871562	24871562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24871562C>T	ENST00000424834.2	+	13	3745	c.3272C>T	c.(3271-3273)aCt>aTt	p.T1091I	SPATA13_ENST00000399949.2_Missense_Mutation_p.T388I|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.T969I|SPATA13_ENST00000409126.1_Missense_Mutation_p.T326I|SPATA13_ENST00000382095.4_Missense_Mutation_p.T466I|SPATA13_ENST00000382108.3_Missense_Mutation_p.T1091I|SPATA13_ENST00000343003.6_Missense_Mutation_p.T410I			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	466					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ACCAAAATCACTAAGCAAGGC	0.488000													19	61					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464407	25464407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:25464407G>A	ENST00000376351.3	+	1	417	c.58G>A	c.(58-60)Gga>Aga	p.G20R	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	20						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTGGGATTGGGAGCTGTTGG	0.672000													20	63					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596824	24596824	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:24596824G>A	ENST00000535378.1	-	4	693	c.51C>T	c.(49-51)agC>agT	p.S17S	KIAA0319_ENST00000537886.1_Silent_p.S26S|KIAA0319_ENST00000430948.2_5'UTR|KIAA0319_ENST00000378214.3_Silent_p.S26S|KIAA0319_ENST00000543707.1_Silent_p.S26S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	26					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCTCCCCTCGCTGCACTGCT	0.498000													31	38					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655029	3655029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3655029C>T	ENST00000263087.4	-	15	1906	c.1808G>A	c.(1807-1809)gGt>gAt	p.G603D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	603					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCCCCAAAACCTTCCAGGGG	0.617000													15	41					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31382509	31382509	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31382509G>A	ENST00000268296.4	+	15	1936	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	ITGAX_ENST00000562522.1_Silent_p.G605G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	605					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGCTGTGGGGGCCCGGGGCC	0.662000													12	43					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31014619	31014619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:31014619G>A	ENST00000409904.3	+	6	912	c.654G>A	c.(652-654)tgG>tgA	p.W218*	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Missense_Mutation_p.V49M|GHRHR_ENST00000326139.2_Nonsense_Mutation_p.W282*			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	282					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCCCCTACTGGTGGATCATCA	0.592000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	68					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507237	152507237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:152507237G>A	ENST00000427231.2	-	53	7280	c.7078C>T	c.(7078-7080)Cca>Tca	p.P2360S	NEB_ENST00000604864.1_Missense_Mutation_p.P2360S|NEB_ENST00000397345.3_Missense_Mutation_p.P2360S|NEB_ENST00000409198.1_Missense_Mutation_p.P2360S|NEB_ENST00000172853.10_Missense_Mutation_p.P2360S|NEB_ENST00000603639.1_Missense_Mutation_p.P2360S	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2360					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCCACTGGGCTGGAGAAC	0.458000													97	222					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1619335	1619335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:1619335C>T	ENST00000262965.5	-	15	1650	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S	TCF3_ENST00000453954.2_Missense_Mutation_p.G352S|TCF3_ENST00000395423.3_Missense_Mutation_p.G385S|TCF3_ENST00000588136.1_Missense_Mutation_p.G436S|TCF3_ENST00000344749.5_Missense_Mutation_p.G436S	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	436					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCCCGCCCAGTGACATG	0.746000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								3	14					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110720562	110720562	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110720562C>T	ENST00000395494.2	+	3	744	c.181C>T	c.(181-183)Cta>Tta	p.L61L	ATP2A2_ENST00000539276.2_Silent_p.L61L|ATP2A2_ENST00000308664.6_Silent_p.L61L|ATP2A2_ENST00000552636.1_5'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	61					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGACTTGCTAGTTAGGAT	0.338000													32	50					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875871	46875871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46875871C>T	ENST00000359759.4	+	1	448	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.L143L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	143					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCGGAAACCCTGGTCCTGGA	0.642000													19	27					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2764226	2764226	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2764226G>A	ENST00000302641.3	-	4	402	c.348C>T	c.(346-348)taC>taT	p.Y116Y		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	116	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCGTGCCCTGGTACAGGGGGT	0.667000													17	18					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129944371	129944371	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:129944371G>A	ENST00000222482.4	+	5	466	c.438G>A	c.(436-438)agG>agA	p.R146R	CPA4_ENST00000445470.2_Silent_p.R113R|CPA4_ENST00000493259.1_Silent_p.R42R	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	146					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGGCGAGGAGGGTGAAGATTG	0.498000													29	94					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116631470	116631470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:116631470C>T	ENST00000260210.4	-	5	1258	c.1235G>A	c.(1234-1236)aGt>aAt	p.S412N	BUD13_ENST00000375445.3_Missense_Mutation_p.S278N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	412										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGGAGGCTGACTCCTTCGAGG	0.498000													16	108					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376774	149376774	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:149376774C>T	ENST00000415338.1	-	0	1061				HIST2H2BB_ENST00000609585.1_RNA																							CTTGCAGAGGCCTGGTTTGCA	0.498000													11	7					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333566	333566	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:333566C>T	ENST00000343164.4	-	10	1226		c.e10+1		SLC6A13_ENST00000539668.1_Splice_Site|SLC6A13_ENST00000445055.2_Splice_Site	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCTCTTGATACCTGGCTATCC	0.577000													19	50					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131883326	131883326	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:131883326G>A	ENST00000403716.1	+	3	598	c.38G>A	c.(37-39)aGt>aAt	p.S13N	PLEKHB2_ENST00000303908.3_Splice_Site_p.S13N|PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000409279.1_Splice_Site_p.S13N|PLEKHB2_ENST00000438882.2_Splice_Site_p.S13N|PLEKHB2_ENST00000409158.1_Splice_Site_p.S13N|PLEKHB2_ENST00000234115.6_Splice_Site_p.S13N|PLEKHB2_ENST00000439822.2_Splice_Site_p.S13N|PLEKHB2_ENST00000404460.1_Splice_Site_p.S13N|PLEKHB2_ENST00000409612.1_Splice_Site_p.S13N	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	13	PH.					membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTTTTTCCAGGTACTATTTTG	0.388000													14	61					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57193741	57193741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:57193741C>T	ENST00000331162.4	-	4	516	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTTGGCTACCATCTCATTTC	0.423000													5	163					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153271254	153271254	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:153271254C>T	ENST00000281708.4	-	3	1753	c.524G>A	c.(523-525)gGt>gAt	p.G175D	FBXW7_ENST00000603841.1_Missense_Mutation_p.G175D|FBXW7_ENST00000296555.5_Missense_Mutation_p.G57D|FBXW7_ENST00000603548.1_Missense_Mutation_p.G175D|FBXW7_ENST00000263981.5_Missense_Mutation_p.G95D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	175					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GACCTCAGAACCATGGTCCAA	0.303000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								8	9					0	0	1	0	0
C12orf76	400073	broad.mit.edu	37	12	110488874	110488874	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110488874C>T	ENST00000548191.1	-	2	494	c.237G>A	c.(235-237)gaG>gaA	p.E79E	C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000309050.5_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						TCTCCACGATCTCCTCTTTCA	0.478000													5	33					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	861826	861826	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597000													3	17					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197184	39197184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39197184G>A	ENST00000306271.4	-	1	529	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	156						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGTAGGATGGGCGGCAGCAG	0.632000													8	45					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013884	156013884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156013884C>T	ENST00000368309.3	-	6	1123	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	344						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CCCACCGGACCCGGGGGCCTG	0.682000													13	12					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205604	205604	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:205604G>A	ENST00000296824.3	-	3	723	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	197										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CGGCGACGGGGTCGACGGACG	0.522000													5	75					0	0	1	0	0
CBLN1	869	broad.mit.edu	37	16	49314954	49314954	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:49314954C>T	ENST00000219197.6	-	2	630		c.e2-1		CBLN1_ENST00000536749.1_Splice_Site	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor						nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TCACTAGTACCTATAACGAGA	0.552000													16	25					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23059383	23059383	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:23059383C>T	ENST00000221132.3	-	4	631	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	189					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGTTTGCACTGACATGCTG	0.522000													39	81					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465787	24465787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24465787G>A	ENST00000382137.3	-	3	711	c.643C>T	c.(643-645)Cct>Tct	p.P215S	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.P215S|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	215	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTGAAGAAGGAAACTTGCTC	0.453000													4	110					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70500068	70500068	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70500068G>A	ENST00000288078.6	+	5	551	c.319G>A	c.(319-321)Gct>Act	p.A107T	FUK_ENST00000428974.2_Missense_Mutation_p.A90T|FUK_ENST00000378912.2_Missense_Mutation_p.A139T|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	107						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTGTGGCAGGGCTTTCACCTG	0.622000													5	80					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169813	57169813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:57169813C>T	ENST00000371244.4	+	7	1024	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	320					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TCAAGACCAGCTTGCAGTGGC	0.408000													40	80					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64678713	64678713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:64678713C>T	ENST00000357395.3	+	105	19057	c.7913C>T	c.(7912-7914)aCc>aTc	p.T2638I	SYNE2_ENST00000554584.1_Missense_Mutation_p.T6212I|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2887I|SYNE2_ENST00000358025.3_Missense_Mutation_p.T6253I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.T2638I|SYNE2_ENST00000555022.1_Missense_Mutation_p.T131I|SYNE2_ENST00000554805.1_Missense_Mutation_p.T36I|SYNE2_ENST00000344113.4_Missense_Mutation_p.T6253I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6253					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGAGGGCACCAGGGAGAGC	0.522000													6	77					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11492781	11492781	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11492781C>T	ENST00000592375.2	-	3	356	c.252G>A	c.(250-252)gaG>gaA	p.E84E	EPOR_ENST00000222139.6_Splice_Site_p.E84E			P19235	EPOR_HUMAN	erythropoietin receptor	84						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ATGGCTCATCCCTATGCGCCC	0.652000													5	21					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	27024250	27024250	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:27024250G>A	ENST00000376215.5	+	9	965		c.e9+1		PDSS1_ENST00000470978.1_Splice_Site|PDSS1_ENST00000376203.5_Intron	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AGCTTTTCAGGTTAGTATGCT	0.428000													5	121					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36454877	36454877	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36454877C>T	ENST00000373731.2	+	8	1576	c.1185C>T	c.(1183-1185)caC>caT	p.H395H	KCTD20_ENST00000544295.1_Silent_p.H149H|KCTD20_ENST00000449081.2_Silent_p.H229H|KCTD20_ENST00000536244.1_Silent_p.H250H|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	395						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TAATGCATCACCCACCCCAAG	0.502000													14	228					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160088	75160088	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:75160088G>A	ENST00000526177.1	-	5	2112	c.234C>T	c.(232-234)ccC>ccT	p.P78P	GDPD5_ENST00000336898.3_Silent_p.P216P|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Silent_p.P97P|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.P97P|GDPD5_ENST00000529721.1_Silent_p.P216P			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	216					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCATGATGCAGGGAGAGGAGA	0.612000													4	13					0	0	1	0	0
TXN2	25828	broad.mit.edu	37	22	36863955	36863955	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36863955C>T	ENST00000216185.2	-	4	863	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.V133M|TXN2_ENST00000416967.1_Missense_Mutation_p.V31M			Q99757	THIOM_HUMAN	thioredoxin 2	133	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						ACAGTGGGCACCGCTGACACC	0.557000													23	37					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179621230	179621230	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179621230G>A	ENST00000444136.1	+	13	2308	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	TDRD5_ENST00000294848.8_Silent_p.E686E|TDRD5_ENST00000367614.1_Silent_p.E686E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	686					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGGGCCAGAGGACATTGTCT	0.408000													7	66					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70694646	70694646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:70694646G>A	ENST00000373585.3	+	10	1600	c.1493G>A	c.(1492-1494)gGt>gAt	p.G498D	DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	498	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGAGAAAGAGGTCAACTAAGA	0.368000													38	73					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377292	104377292	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:104377292C>T	ENST00000535008.1	+	4	740	c.616C>T	c.(616-618)Cta>Tta	p.L206L	LHFPL3_ENST00000424859.1_Silent_p.L192L|LHFPL3_ENST00000543266.1_Silent_p.L206L|LHFPL3_ENST00000401970.2_Silent_p.L192L			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	192						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CCTCTCATTTCTAGCATTTGT	0.453000													5	25					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2816209	2816209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2816209C>T	ENST00000360652.2	-	8	1766	c.1264G>A	c.(1264-1266)Ggg>Agg	p.G422R	PCED1A_ENST00000356872.3_Missense_Mutation_p.G371R	NM_022760.4	NP_073597.2			PC-esterase domain containing 1A																		CAGGGCCCCCCCATTCTCCGC	0.617000													4	33					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12131092	12131092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:12131092G>A	ENST00000379388.2	+	6	6634	c.6302G>A	c.(6301-6303)aGc>aAc	p.S2101N	HIVEP1_ENST00000541134.1_5'UTR	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2101					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGAAACCTAGCATGTTAAAG	0.383000													6	98					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202987654	202987654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:202987654C>T	ENST00000367242.3	+	6	834	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CAGACAGGAACCAATGTGGGA	0.313000													4	95					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327704	49327704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:49327704C>T	ENST00000559471.1	-	3	618	c.355G>A	c.(355-357)Gtt>Att	p.V119I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V119I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	119										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AAACCCATAACCTGGGCACAT	0.458000													4	112					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12064109	12064109	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12064109G>A	ENST00000235329.5	+	12	1543	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	MFN2_ENST00000444836.1_Silent_p.Q407Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	407					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGACAAACAGCTGGAGCTCT	0.473000													31	50					0	0	1	0	0
CD59	966	broad.mit.edu	37	11	33738963	33738963	+	Missense_Mutation	SNP	G	G	A	rs77450648		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:33738963G>A	ENST00000395850.3	-	3	197	c.122C>T	c.(121-123)gCc>gTc	p.A41V	CD59_ENST00000527577.1_Missense_Mutation_p.A41V|CD59_ENST00000533403.1_Missense_Mutation_p.A41V|CD59_ENST00000415002.2_Missense_Mutation_p.A41V|CD59_ENST00000528700.1_Missense_Mutation_p.A41V|CD59_ENST00000351554.3_Missense_Mutation_p.A41V|CD59_ENST00000426650.2_Missense_Mutation_p.A41V|CD59_ENST00000437761.2_Missense_Mutation_p.A41V|CD59_ENST00000534312.1_Missense_Mutation_p.A41V|CD59_ENST00000445143.2_Missense_Mutation_p.A41V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	41	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						ACAATTGACGGCTGTTTTGCA	0.458000													13	43					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690938	6690938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6690938C>T	ENST00000309577.6	-	30	4805	c.4642G>A	c.(4642-4644)Gaa>Aaa	p.E1548K	CHD4_ENST00000544040.1_Missense_Mutation_p.E1513K|CHD4_ENST00000357008.2_Missense_Mutation_p.E1520K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1545K|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1520					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCAGCCAGTTCAGGCATGCTC	0.532000													40	74					0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76924485	76924485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:76924485C>T	ENST00000372687.4	+	3	746	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	SAMD8_ENST00000372690.3_Missense_Mutation_p.L284F|SAMD8_ENST00000542569.1_Missense_Mutation_p.L221F			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGTTCTTCTTCTTCACAAGCA	0.403000													8	81					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216292945	216292945	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216292945A>T	ENST00000354785.4	-	6	1171	c.802T>A	c.(802-804)Tgg>Agg	p.W268R	FN1_ENST00000346544.3_Missense_Mutation_p.W268R|FN1_ENST00000446046.1_Missense_Mutation_p.W268R|FN1_ENST00000356005.4_Missense_Mutation_p.W268R|FN1_ENST00000432072.2_Missense_Mutation_p.W268R|FN1_ENST00000357867.4_Missense_Mutation_p.W268R|FN1_ENST00000359671.1_Missense_Mutation_p.W268R|FN1_ENST00000443816.1_Missense_Mutation_p.W268R|FN1_ENST00000345488.5_Missense_Mutation_p.W268R|FN1_ENST00000421182.1_Missense_Mutation_p.W268R|FN1_ENST00000357009.2_Missense_Mutation_p.W268R|FN1_ENST00000323926.6_Missense_Mutation_p.W268R|FN1_ENST00000336916.4_Missense_Mutation_p.W268R|FN1_ENST00000426059.1_Missense_Mutation_p.W268R			P02751	FINC_HUMAN	fibronectin 1	268	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACACTTCCACTCTCCTCGG	0.552000													35	52					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113904	107113904	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:107113904C>T	ENST00000454421.2	-	0	267																											ATATTCCAGTCCCTTCCCTGG	0.517000													4	93					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24980003	24980003	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:24980003G>A	ENST00000289968.6	-	5	432	c.363C>T	c.(361-363)gaC>gaT	p.D121D	ARHGAP17_ENST00000303665.5_Silent_p.D121D|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Silent_p.D121D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	121	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CGTACAGAGGGTCCACGATCT	0.517000													4	133					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424895	5424895	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5424895C>T	ENST00000345221.3	-	13	4286	c.3732G>A	c.(3730-3732)gaG>gaA	p.E1244E	NLRP1_ENST00000572272.1_Silent_p.E1244E|NLRP1_ENST00000354411.3_Silent_p.E1214E|NLRP1_ENST00000577119.1_Silent_p.E1214E|NLRP1_ENST00000262467.5_Silent_p.E1248E|NLRP1_ENST00000269280.4_Silent_p.E1244E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1244					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGTGACTTCCTCAGGATGGA	0.552000													4	67					0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40448292	40448292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:40448292G>A	ENST00000378438.4	+	2	250	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000544975.1_Intron|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	31					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						GTTGTTTTCCGAAATGGAAAT	0.373000													37	48					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640116	36640116	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:36640116C>T	ENST00000373448.2	-	3	2341	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	TTI1_ENST00000373447.3_Silent_p.G701G|TTI1_ENST00000449821.1_Silent_p.G701G	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	701							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTAAAGAGATCCCATTCACTA	0.502000													10	47					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182856516	182856516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:182856516G>A	ENST00000367549.3	+	28	3870	c.3760G>A	c.(3760-3762)Ggg>Agg	p.G1254R	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1254	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGTGGTAGGGGGGCCTATGG	0.527000													11	4					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908523	103908523	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:103908523C>T	ENST00000302259.3	+	1	1216	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	325					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGAGGATCAACCCATGGATAT	0.458000													4	94					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42390909	42390909	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:42390909G>A	ENST00000379310.3	-	16	1940	c.1872C>T	c.(1870-1872)gtC>gtT	p.V624V	VWA8_ENST00000281496.6_Silent_p.V624V	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTACATTTGGGACCTATTTTT	0.353000													7	32					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454988	29454988	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:29454988G>A	ENST00000216071.4	-	3	666	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	205										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GGAGACCATGGATGGTTAGCG	0.587000													28	121					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818950	17818950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:17818950G>A	ENST00000545871.1	-	3	1641	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	RAI2_ENST00000360011.1_Missense_Mutation_p.A394V|RAI2_ENST00000451717.1_Missense_Mutation_p.A394V|RAI2_ENST00000415486.3_Missense_Mutation_p.A344V|RAI2_ENST00000331511.1_Missense_Mutation_p.A394V	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	394					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATGGCTGGGGCCTCATGGGA	0.542000													15	107					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151093227	151093227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151093227C>T	ENST00000334493.6	-	3	791	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.V121I	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	121										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACTCCAGACCCGAGCTGTC	0.642000													8	77					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45853683	45853683	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45853683C>T	ENST00000470402.1	+	8	1370	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	KLC3_ENST00000391946.2_Missense_Mutation_p.P410S|KLC3_ENST00000585434.1_Missense_Mutation_p.P409S|ERCC2_ENST00000391945.4_3'UTR			Q6P597	KLC3_HUMAN	kinesin light chain 3	410						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTACCCGCCCCTCTCGGTGA	0.572000													8	54					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800184	27800184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27800184G>A	ENST00000408964.2	+	1	796	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	249								p.G249W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAGGATGTGGGGGAGTTATA	0.443000													42	69					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234561	26234561	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:26234561C>T	ENST00000244534.5	-	1	655	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	201					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTAGGCTTGGCCGCCTTGGGC	0.502000													4	135					0	0	1	0	0
RRAGD	58528	broad.mit.edu	37	6	90090060	90090060	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:90090060C>T	ENST00000369415.4	-	3	747	c.471G>A	c.(469-471)agG>agA	p.R157R	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Silent_p.R6R	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	157					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TGAGGTGGAGCCTGGCCAGGG	0.512000													15	52					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77078012	77078012	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:77078012C>T	ENST00000579016.1	+	7	905	c.905C>T	c.(904-906)aCt>aTt	p.T302I	ENGASE_ENST00000539857.2_Missense_Mutation_p.T116I	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	302	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGCTTCTTCACTAACTATAAC	0.617000													5	143					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32824921	32824921	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:32824921G>A	ENST00000421745.2	+	70	14080	c.13946G>A	c.(13945-13947)gGt>gAt	p.G4649D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4649	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGACAACTGGTGGTCATAGC	0.398000													16	25					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798064	140798064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140798064C>T	ENST00000398594.2	+	1	638	c.638C>T	c.(637-639)aCc>aTc	p.T213I	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTACTGACCGCCTTAGAT	0.517000													15	55					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47560273	47560273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:47560273G>A	ENST00000334194.3	+	7	811	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	270						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GTCTCTTAAGGATAAGCTAAA	0.373000													5	51					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216004	103216004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:103216004C>T	ENST00000424685.2	-	29	4453	c.4294G>A	c.(4294-4296)Gga>Aga	p.G1432R	RELN_ENST00000343529.5_Missense_Mutation_p.G1432R|RELN_ENST00000428762.1_Missense_Mutation_p.G1432R			P78509	RELN_HUMAN	reelin	1432	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGTATATCCCAGGTCACAG	0.418000													14	77					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724316	30724316	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:30724316C>T	ENST00000361762.2	+	1	2280	c.1272C>T	c.(1270-1272)ccC>ccT	p.P424P	PCDH7_ENST00000543491.1_Silent_p.P424P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	424	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCGCATCCCCCTCAAGGACG	0.627000													8	22					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958902	53958902	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53958902C>T	ENST00000454407.1	+	0	1594							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGGAGAGAAACCCTACAAATG	0.413000													18	210					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234359632	234359632	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:234359632C>T	ENST00000264057.2	+	17	2115	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	DGKD_ENST00000409813.3_Silent_p.S657S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	701					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTCTGCTTCCCTTCCGCCCC	0.592000													6	130					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987392	15987392	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:15987392G>A	ENST00000345034.1	+	1	1029	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	343					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTGTGGAGTCAGCAGAAG	0.428000													4	78					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13708282	13708282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:13708282G>A	ENST00000357447.2	-	18	1786	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FRMD4A_ENST00000378503.1_Missense_Mutation_p.S473F|FRMD4A_ENST00000358621.4_Missense_Mutation_p.S458F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	473						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTAATCTGGGACTGAATGGC	0.547000													5	106					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47454640	47454640	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47454640C>T	ENST00000265562.4	+	25	4953	c.4876C>T	c.(4876-4878)Ctt>Ttt	p.L1626F	PTPN23_ENST00000431726.1_Missense_Mutation_p.L1500F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1626					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCCTCAGCCTTCTGGATCC	0.587000													24	47					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85973020	85973020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:85973020G>A	ENST00000372117.3	+	16	2059	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	CDHR1_ENST00000440770.2_Nonsense_Mutation_p.W356*|CDHR1_ENST00000332904.3_Nonsense_Mutation_p.W652*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	652	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACTGCCTATGGTCCCTAGAGG	0.552000													35	93					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16237426	16237426	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:16237426C>T	ENST00000339732.5	+	2	1202	c.699C>T	c.(697-699)agC>agT	p.S233S	GALNT15_ENST00000437509.1_Silent_p.S233S	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		ACGACCTCAGCCAGCAAGGTA	0.562000													13	17					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175596	35175596	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35175596C>T	ENST00000505242.1	+	5	1148	c.654C>T	c.(652-654)cgC>cgT	p.R218R	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.R218R|ZNF302_ENST00000446502.2_Silent_p.R262R|ZNF302_ENST00000423823.2_Silent_p.R218R			Q9NR11	ZN302_HUMAN	zinc finger protein 302	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCTCAGTCGCCACTGGAGAA	0.438000													50	81					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061552	38061552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:38061552G>A	ENST00000250448.2	-	2	498	c.437C>T	c.(436-438)tCc>tTc	p.S146F	FOXA1_ENST00000540786.1_Missense_Mutation_p.S113F|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	146					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		gcccAGGTTGGACGGCGCGTA	0.711000													9	34					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96281762	96281762	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96281762G>A	ENST00000225235.4	+	10	1922	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	604	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ATTTGGAAGAGGCAGATGCCT	0.403000													39	69					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164631	85164631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85164631G>A	ENST00000448803.2	+	3	1497	c.1205G>A	c.(1204-1206)aGt>aAt	p.S402N	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S252N|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S401N|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S402N|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	402					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TTCAGCCAGAGTTCAGCCCTC	0.522000													6	109					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23751084	23751084	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23751084C>T	ENST00000450454.2	-	1	149	c.43G>A	c.(43-45)Gag>Aag	p.E15K	TCEA3_ENST00000374601.3_Missense_Mutation_p.E15K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	15	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACCATCTTCTCCAGCTTTTTG	0.711000													17	43					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510087	77510087	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:77510087C>T	ENST00000477717.1	+	3	695	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	154					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.R154C(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAGGATCCTCCGCAACCGCCA	0.637000													40	63					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61303113	61303113	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61303113C>T	ENST00000217159.1	+	12	2242	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	SLCO4A1_ENST00000370507.1_Silent_p.V679V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	679					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGCTGGGCGTCCTCTTCTTTG	0.622000													42	104					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126023806	126023806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:126023806C>T	ENST00000265896.5	+	7	2034	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	SQLE_ENST00000523430.1_Missense_Mutation_p.A284V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	379				AT -> VA (in Ref. 2; BX647400).	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTCTTAGAAGCCACTGACAAT	0.373000													3	4					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990234	239990234	+	Silent	SNP	G	G	A	rs139744175		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:239990234G>A	ENST00000345617.3	-	23	3596	c.2805C>T	c.(2803-2805)gcC>gcT	p.A935A	HDAC4_ENST00000543185.1_Silent_p.A519A	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	935	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGCCCTCCACGGCATCGAAGC	0.587000													18	32					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907268	43907268	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43907268G>A	ENST00000562955.1	+	53	7434	c.7434G>A	c.(7432-7434)caG>caA	p.Q2478Q	SZT2_ENST00000372442.1_Silent_p.Q1636Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2535						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTATGGTTCAGATTGGTGAGA	0.592000													21	75					0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88706396	88706396	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88706396C>T	ENST00000244241.4	+	3	559	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	170					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTCGGGGCTCCCCACACCTG	0.726000													28	49					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	8998892	8998892	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:8998892C>T	ENST00000305997.3	-	13	1678	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	494					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGTTCTGTCCCAAAGAATTT	0.368000													25	57					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31644797	31644797	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31644797G>A	ENST00000375858.3	-	3	389	c.381C>T	c.(379-381)ttC>ttT	p.F127F	LY6G5C_ENST00000383237.4_Silent_p.F130F|LY6G5C_ENST00000375860.2_Silent_p.F128F|LY6G5C_ENST00000474395.1_5'UTR	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	130	UPAR/Ly6.					extracellular region		p.F127L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						AGTATTGAGAGAATATCCAGA	0.473000													5	129					0	0	1	0	0
LINC00639	283547	broad.mit.edu	37	14	39304901	39304901	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:39304901C>T	ENST00000553932.1	-	0	3661																											ACCACATTCGCCATCAGAGGG	0.507000													6	13					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34192235	34192235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:34192235C>T	ENST00000373381.4	-	16	2596	c.2420G>A	c.(2419-2421)gGc>gAc	p.G807D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	767	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCAGGCCAGCCCGGAGAGAG	0.587000													12	35					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604390	140604390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140604390C>T	ENST00000239449.4	+	1	1313	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T285I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		438	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAACATAACCGTGCTGCTC	0.562000													69	130					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70757768	70757768	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70757768G>A	ENST00000373719.3	+	3	525	c.308G>A	c.(307-309)gGg>gAg	p.G103E	OGT_ENST00000373701.3_Missense_Mutation_p.G93E|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	103					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAGGAAAGAGGGCAGTTGCAG	0.473000													15	129					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129304827	129304827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:129304827G>A	ENST00000393239.1	-	5	1997	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	PLXND1_ENST00000324093.4_Missense_Mutation_p.P607S			Q9Y4D7	PLXD1_HUMAN	plexin D1	607					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATCTCGGAAGGCAGGACGGTC	0.652000													12	140					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146781239	146781239	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:146781239G>A	ENST00000343218.5	-	9	1371	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	DPYSL3_ENST00000398514.3_Missense_Mutation_p.P278S|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	278					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGATGGGCTCACCAAAG	0.517000													8	19					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70873281	70873281	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:70873281G>A	ENST00000322773.4	+	36	2495	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G420D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	798	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGCAAAAGGTGAAAAGGTA	0.438000													7	19					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58837971	58837971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:58837971G>A	ENST00000414170.3	+	6	892	c.605G>A	c.(604-606)gGa>gAa	p.G202E	LIPC_ENST00000433326.2_Missense_Mutation_p.G141E|LIPC_ENST00000299022.5_Missense_Mutation_p.G202E|LIPC_ENST00000356113.6_Missense_Mutation_p.G202E			P11150	LIPC_HUMAN	lipase, hepatic	202					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTGTTTGAGGGAAGTGCCCCC	0.532000													8	49					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4586131	4586131	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4586131G>A	ENST00000301396.4	-	4	762	c.537C>T	c.(535-537)ggC>ggT	p.G179G	PELP1_ENST00000269230.7_Silent_p.G179G|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000574876.1_Silent_p.G179G|PELP1_ENST00000436683.2_Silent_p.G32G|PELP1_ENST00000572293.1_Silent_p.G229G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	179					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGTGAGAAGGCCAGGGAGGT	0.617000													6	9					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12269426	12269426	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:12269426G>A	ENST00000396667.3	+	6	885	c.563G>A	c.(562-564)gGt>gAt	p.G188D	TMEM106B_ENST00000396668.3_Missense_Mutation_p.G188D	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B							integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACCATTATTGGTCCACTTGAT	0.333000													4	151					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1230935	1230935	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1230935C>T	ENST00000354700.5	-	19	1908		c.e19-1		ACAP3_ENST00000353662.3_Splice_Site	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3						filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGGTGCCCACTGCAGGGGCA	0.677000													6	10					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790364	19790364	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19790364G>A	ENST00000592502.1	+	4	676	c.566G>A	c.(565-567)aGa>aAa	p.R189K	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R69K			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ATCCATCAAAGAACTCACACT	0.418000													4	118					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36091355	36091355	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:36091355C>A	ENST00000313548.4	+	4	476	c.290C>A	c.(289-291)tCt>tAt	p.S97Y		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		CAATTCCTTTCTCTTGAGGAA	0.433000													38	37					2.87052e-16	2.88452e-16	1	1	0
YIPF3	25844	broad.mit.edu	37	6	43480270	43480270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43480270G>A	ENST00000372422.2	-	8	994	c.812C>T	c.(811-813)cCc>cTc	p.P271L	YIPF3_ENST00000506469.1_Missense_Mutation_p.P277L	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	271					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCGCTGTGTGGGGCCCACGGT	0.577000													9	22					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3366945	3366945	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3366945C>T	ENST00000574298.1	+	5	607	c.134C>T	c.(133-135)tCc>tTc	p.S45F	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAAGTGATCTCCTGTCTAGAG	0.458000													5	85					0	0	1	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666311	27666311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27666311G>A	ENST00000543753.1	+	5	574	c.527G>A	c.(526-528)gGg>gAg	p.G176E	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158E|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176E	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	176						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGTCTGCAGGGGAGGCTGCT	0.552000													7	67					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767501	57767501	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57767501C>T	ENST00000371030.2	+	1	1427	c.1427C>T	c.(1426-1428)cCc>cTc	p.P476L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	476						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACCTGGACGCCCCCAGACAAG	0.667000													21	28					0	0	1	0	0
PPP1R2	5504	broad.mit.edu	37	3	195251638	195251638	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195251638G>A	ENST00000328432.3	-	3	647	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	96					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GATGTCTGGCGCCATGGCTTC	0.453000													3	63					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290364	121290364	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:121290364G>A	ENST00000297848.3	+	27	3498	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q	COL14A1_ENST00000309791.4_Silent_p.Q1076Q|COL14A1_ENST00000247781.3_Silent_p.Q981Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1076	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGGTTCAGTTCACTGATG	0.383000													7	68					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047503	11047503	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:11047503G>A	ENST00000470054.1	-	0	751									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCGTTGGTTGGTACAGATTT	0.343000													12	361					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43316087	43316087	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:43316087G>A	ENST00000374518.5	+	17	2964	c.2901G>A	c.(2899-2901)agG>agA	p.R967R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R967R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGACAAAGGCTTCTAAAGT	0.428000													6	106					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24753666	24753666	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:24753666C>T	ENST00000336930.6	+	3	249	c.183C>T	c.(181-183)tcC>tcT	p.S61S	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	61						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTATCAGTCCTTAAAAAACG	0.338000													10	9					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255387	110255387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:110255387C>T	ENST00000239690.4	-	10	1977	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	NUDCD1_ENST00000427660.2_Missense_Mutation_p.E506K	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	535										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGCCTGCCTTCCTTTCTGTTG	0.443000													5	231					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46216407	46216407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46216407C>T	ENST00000317683.3	-	2	480	c.347G>A	c.(346-348)aGc>aAc	p.S116N		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	116							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTTCATGGAGCTGGCCCGGCT	0.642000													17	43					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482146	9482146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9482146C>T	ENST00000402466.1	+	9	1048	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SETD5_ENST00000302463.6_Missense_Mutation_p.P94S|SETD5_ENST00000402198.1_Missense_Mutation_p.P192S|SETD5_ENST00000406341.1_Missense_Mutation_p.P192S|SETD5_ENST00000407969.1_Missense_Mutation_p.P211S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	192										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAGAATTCTCCCTCTGAAGC	0.423000													11	21					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092219	151092219	+	Missense_Mutation	SNP	C	C	T	rs138113927		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:151092219C>T	ENST00000360243.2	+	3	350	c.83C>T	c.(82-84)gCa>gTa	p.A28V	MAGEA4_ENST00000370337.4_Missense_Mutation_p.A28V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A28V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A28V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A28V|MAGEA4_ENST00000370335.1_Missense_Mutation_p.A28V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.A28V	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	28							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTGGGTGCACAGGCTCCT	0.612000													23	47					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124707804	124707804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124707804C>T	ENST00000262219.6	-	7	599	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ANXA13_ENST00000419625.1_Missense_Mutation_p.E137K	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	137					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACATCTGATTCGAGGCTCCTA	0.388000													41	72					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369145	37369145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:37369145C>T	ENST00000361924.2	+	14	6142	c.5768C>T	c.(5767-5769)gCc>gTc	p.A1923V	GOLGA4_ENST00000356847.4_Missense_Mutation_p.A1945V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1923	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACATGGAAGCCCAGCACAAT	0.418000													11	62					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217502	97217502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:97217502C>T	ENST00000454558.2	+	7	2210	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	ARID5A_ENST00000357485.3_Missense_Mutation_p.P413S			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	413					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CTACCCCAAGCCCAAAGCCTG	0.657000													9	33					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57913827	57913827	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:57913827G>A	ENST00000574161.1	+	4	459	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	MYZAP_ENST00000380565.4_Missense_Mutation_p.V114M|GCOM1_ENST00000587652.1_Missense_Mutation_p.V114M|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.V114M|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.V114M|GCOM1_ENST00000572390.1_Missense_Mutation_p.V114M|MYZAP_ENST00000267853.5_Missense_Mutation_p.V114M|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380561.2_Intron	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		114					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTTGGAAAAGGTGAGAAAGCG	0.388000													4	88					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900686	4900686	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4900686C>T	ENST00000404991.1	-	1	939	c.753G>A	c.(751-753)atG>atA	p.M251I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	251					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTGCTACTAGCATGGCCCAGG	0.448000													53	142					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48337217	48337217	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48337217G>A	ENST00000285737.4	+	11	1888		c.e11+1		LONP2_ENST00000535754.1_Splice_Site	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal						misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGAGAGAAGGTTGGTGACCT	0.537000													43	81					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843046	57843046	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:57843046C>T	ENST00000264230.4	-	1	1943	c.706G>A	c.(706-708)Gcg>Acg	p.A236T		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	236							GTP binding										CCCACCAGCGCGGGCAAGTCG	0.701000													43	64					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113242230	113242230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:113242230C>T	ENST00000261965.3	-	1	251	c.65G>A	c.(64-66)gGc>gAc	p.G22D	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.G22D	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	22					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTCGCTCCTGCCCAGGATCCT	0.701000													4	19					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697850	17697850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:17697850C>T	ENST00000353383.1	+	3	2057	c.1588C>T	c.(1588-1590)Ctc>Ttc	p.L530F	RAI1_ENST00000261641.6_Missense_Mutation_p.L530F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	530						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCGCAGCTTCCTCTACTGCAA	0.662000													4	32					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15303202	15303202	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15303202G>A	ENST00000263388.2	-	3	401	c.326C>T	c.(325-327)cCc>cTc	p.P109L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	109	EGF-like 2.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAAGCCACGGGGGCACCGGCA	0.652000													12	17					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083002	152083002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152083002C>T	ENST00000368804.1	-	2	2690	c.2691G>A	c.(2689-2691)gaG>gaA	p.E897E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	897					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCAGCTGCTCTTGTAGGG	0.582000													14	209					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430762	51430762	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51430762G>A	ENST00000323686.4	+	1	2032	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	644					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCAGTGAAGGGACCAAGGAGT	0.642000													7	13					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18922847	18922847	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:18922847C>T	ENST00000317977.6	+	12	1834	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	SLC5A10_ENST00000395645.3_Silent_p.A451A|SLC5A10_ENST00000417251.2_Silent_p.A415A|SLC5A10_ENST00000395643.2_Silent_p.A424A|SLC5A10_ENST00000395647.2_Silent_p.A467A|SLC5A10_ENST00000395642.1_Silent_p.A421A	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	451					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCTCCCTGGCCCCACCAGTGA	0.627000													10	23					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18828735	18828735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:18828735C>T	ENST00000446231.2	-	57	10364	c.9952G>A	c.(9952-9954)Gaa>Aaa	p.E3318K	SMG1_ENST00000389467.3_Missense_Mutation_p.E3319K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3318					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTAAGGCTTCTGCAGTTCTT	0.413000													4	11					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38169294	38169294	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38169294G>A	ENST00000333167.8	-	7	781	c.609C>T	c.(607-609)gcC>gcT	p.A203A	ACAA1_ENST00000544624.1_Silent_p.A51A|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Silent_p.A162A|ACAA1_ENST00000301810.7_Silent_p.A170A|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	203					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGGAAGCCAGGGCAAAGGTAT	0.493000													4	35					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985234	985234	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:985234C>T	ENST00000361661.2	-	3	635	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC26A1_ENST00000398520.2_Silent_p.Q86Q|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.Q86Q	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	86						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGCGATGGCCTGCGGCACCA	0.642000													65	77					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110148	33110148	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:33110148G>A	ENST00000267068.3	-	2	1181	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Silent_p.D339D	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	339										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTCACTACAGTCAGTATATT	0.368000													28	45					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111130378	111130378	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:111130378G>A	ENST00000360467.5	+	30	2760	c.2454G>A	c.(2452-2454)ggG>ggA	p.G818G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	818	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGATGCCAGGGCTGAAGGGCC	0.632000													11	39					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21750309	21750309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21750309G>A	ENST00000328843.6	+	42	6874	c.6843G>A	c.(6841-6843)atG>atA	p.M2281I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M2274I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2281	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATACTGTAATGGATGATAACA	0.363000									Kartagener syndrome				7	36					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142780110	142780110	+	Missense_Mutation	SNP	C	C	T	rs72542740		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:142780110C>T	ENST00000343796.2	-	2	1288	c.295G>A	c.(295-297)Gga>Aga	p.G99R	NR3C1_ENST00000504572.1_Missense_Mutation_p.G99R|NR3C1_ENST00000231509.3_Missense_Mutation_p.G99R|NR3C1_ENST00000394466.2_Missense_Mutation_p.G99R|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_Missense_Mutation_p.G99R|NR3C1_ENST00000415690.2_Missense_Mutation_p.G99R|NR3C1_ENST00000394464.2_Missense_Mutation_p.G99R|NR3C1_ENST00000503201.1_Missense_Mutation_p.G99R	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	99	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGGTCATTTCCCATCACTTTT	0.473000													46	95					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100231077	100231077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100231077C>T	ENST00000462107.1	-	5	863	c.576G>A	c.(574-576)tgG>tgA	p.W192*	TFR2_ENST00000223051.3_Nonsense_Mutation_p.W192*|TFR2_ENST00000431692.1_Nonsense_Mutation_p.W192*			Q9UP52	TFR2_HUMAN	transferrin receptor 2	192					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGTGTCGGTCCACACGTGGT	0.726000													20	43					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186322851	186322851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:186322851C>T	ENST00000367478.4	-	18	2599	c.2303G>A	c.(2302-2304)aGa>aAa	p.R768K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTGCTCCTCTCAAATCTTG	0.373000			T	NTRK1	papillary thyroid								53	111					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100190523	100190523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100190523G>A	ENST00000241071.6	+	5	998	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	FBXO24_ENST00000360609.2_Missense_Mutation_p.V212I|FBXO24_ENST00000468962.1_Missense_Mutation_p.V214I|FBXO24_ENST00000427939.2_Missense_Mutation_p.V264I|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.V212I	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	226						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGTGTTGAGGTCTATCTGCA	0.567000													16	58					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046350	69046350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69046350C>T	ENST00000295381.3	+	9	1515	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.Q60*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.Q359*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.Q360*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.Q327*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.Q360*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.Q367*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	366					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACCCCCTGCCCAGAAAAATGA	0.512000													49	86					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166458	161166458	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161166458C>T	ENST00000367996.5	-	2	1274	c.846G>A	c.(844-846)ggG>ggA	p.G282G	ADAMTS4_ENST00000367995.3_Silent_p.G282G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGCACTGGGCCCCACTTGGG	0.637000													11	60					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252811	134252811	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:134252811C>T	ENST00000524765.1	-	4	5255	c.711G>A	c.(709-711)aaG>aaA	p.K237K	B3GAT1_ENST00000312527.4_Silent_p.K237K|B3GAT1_ENST00000537389.1_Silent_p.K250K|B3GAT1_ENST00000392580.1_Silent_p.K237K			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	237					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGCCGACCACCTTCCCTGCCC	0.647000													5	10					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48542800	48542800	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:48542800C>T	ENST00000358350.4	-	46	6469	c.5865G>A	c.(5863-5865)cgG>cgA	p.R1955R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.R1955R|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.R1955R	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1955					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTTACTCCGCCGCCGGTCAC	0.418000													5	89					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17121861	17121861	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:17121861C>T	ENST00000357277.3	+	14	1708	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.P312S|REPS2_ENST00000303843.7_Missense_Mutation_p.P512S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	513	Pro-rich.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AGGATTGTTACCCCCACCACC	0.418000													6	81					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68367948	68367948	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:68367948C>T	ENST00000393799.2	+	20	2445	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PPP6R3_ENST00000527403.2_Silent_p.F691F|PPP6R3_ENST00000265636.5_Silent_p.F646F|PPP6R3_ENST00000393800.2_Silent_p.F726F|PPP6R3_ENST00000393801.3_Silent_p.F726F|PPP6R3_ENST00000524904.1_Silent_p.F720F|PPP6R3_ENST00000265637.4_Silent_p.F680F|PPP6R3_ENST00000524845.1_Silent_p.F697F|PPP6R3_ENST00000534534.1_Silent_p.F494F|PPP6R3_ENST00000529710.1_Silent_p.F646F			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	726					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTCAGAGTTCACGTCTTCCC	0.537000													25	39					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19748668	19748668	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:19748668G>A	ENST00000395544.4	-	7	991	c.492C>T	c.(490-492)taC>taT	p.Y164Y	ULK2_ENST00000361658.2_Silent_p.Y164Y	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	164	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TACTATGTAGGTAACGAGCAA	0.398000													33	48					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16089968	16089968	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:16089968G>A	ENST00000268712.3	-	3	399	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.L48F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	48	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTCACTTCAAGATGAGAGGAA	0.408000													16	55					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476379	87476379	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87476379C>T	ENST00000341119.5	-	8	862	c.516G>A	c.(514-516)aaG>aaA	p.K172K		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	172					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAGAAAACTTCTTGGACTGCA	0.388000													7	377					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207856	121207856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121207856C>T	ENST00000264233.5	-	16	4050	c.3922G>A	c.(3922-3924)Gtt>Att	p.V1308I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1308					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTCAGAAACATGATTATTT	0.313000								DNA polymerases (catalytic subunits)					33	80					0	0	1	0	0
LSM3	27258	broad.mit.edu	37	3	14239579	14239579	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:14239579G>A	ENST00000306024.3	+	4	775	c.272G>A	c.(271-273)gGc>gAc	p.G91D		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CGGGGAGATGGCGTTGTCCTG	0.418000													24	41					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43014143	43014143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:43014143C>T	ENST00000458501.2	+	4	533	c.533C>T	c.(532-534)gCc>gTc	p.A178V	HGSNAT_ENST00000379644.4_Missense_Mutation_p.A150V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	178					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTGAAATTGCCTGTGACCTG	0.363000													7	17					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735342	155735342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155735342C>T	ENST00000437809.1	-	21	4044	c.3922G>A	c.(3922-3924)Ggc>Agc	p.G1308S	GON4L_ENST00000361040.5_Missense_Mutation_p.G1308S|GON4L_ENST00000368331.1_Missense_Mutation_p.G1308S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.G1308S	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1308					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGGATGCCCTGAGGGAGC	0.522000													6	82					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50782684	50782684	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:50782684G>A	ENST00000433963.1	+	15	2696	c.2196G>A	c.(2194-2196)agG>agA	p.R732R	USP8_ENST00000396444.3_Silent_p.R732R|USP8_ENST00000425032.3_Silent_p.R626R|USP8_ENST00000307179.4_Silent_p.R732R			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	732					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAGAGAAGAGGAAGCCAACAG	0.428000													7	94					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793398	11793398	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11793398C>T	ENST00000344893.3	+	0	1600					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GTGAACTTCACCCAGGAGGAG	0.498000													42	104					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896625	35896625	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:35896625G>A	ENST00000321660.1	+	2	342	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	62					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGGGATGCGCCAATGTTTG	0.627000													11	185					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967225	106967225	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:106967225G>A	ENST00000369066.3	+	2	1405	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	306							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTGTTGGGAGGGCAAAGCTGA	0.433000													9	57					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131348	136131348	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:136131348G>A	ENST00000453660.2	-	0	780							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CTCGTCCTTGGGGATGTAGGC	0.667000													4	12					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518372	156518372	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156518372C>T	ENST00000361170.2	-	17	2004		c.e17+1			NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCATTACCTGGACGCTG	0.592000													6	79					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458432	232458432	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:232458432G>A	ENST00000313965.2	+	1	858	c.770G>A	c.(769-771)aGg>aAg	p.R257K		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	257										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGGGGAGAAGGCCCCTGGAC	0.652000													48	68					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045573	35045573	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35045573C>T	ENST00000290374.4	-	2	548	c.72G>A	c.(70-72)agG>agA	p.R24R		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	24					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCAACAGGATCCTGAACGGAG	0.552000													11	8					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696633	33696633	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33696633C>T	ENST00000253193.7	+	5	1159	c.957C>T	c.(955-957)gaC>gaT	p.D319D		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	319	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCGCGGGGACCGCCTGCTGC	0.711000													4	5					0	0	1	0	0
MVB12B	89853	broad.mit.edu	37	9	129143358	129143358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:129143358G>A	ENST00000361171.3	+	3	301	c.220G>A	c.(220-222)Gat>Aat	p.D74N	MVB12B_ENST00000535766.1_Missense_Mutation_p.D67N|MVB12B_ENST00000545391.1_Missense_Mutation_p.D74N|MVB12B_ENST00000436593.3_Missense_Mutation_p.D59N	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		ACAGACAGCAGATGGTGTGGA	0.473000													17	48					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48683182	48683182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48683182G>A	ENST00000544264.1	-	24	7878	c.7598C>T	c.(7597-7599)cCc>cTc	p.P2533L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P2528L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2528					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCTCACGGGGAGAGGCATC	0.617000													4	23					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911594	38911594	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38911594C>T	ENST00000454404.2	-	4	544	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	RASGRP4_ENST00000426920.2_Missense_Mutation_p.G111R|RASGRP4_ENST00000587738.1_Missense_Mutation_p.G111R|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G111R|RASGRP4_ENST00000433821.2_Missense_Mutation_p.G111R|RASGRP4_ENST00000293062.9_Missense_Mutation_p.G111R|RASGRP4_ENST00000587753.1_Missense_Mutation_p.G111R	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	111	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGGTGTCCCCTGTGGCCTTC	0.587000													13	47					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95265314	95265314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:95265314C>T	ENST00000297596.2	-	3	622	c.358G>A	c.(358-360)Gtt>Att	p.V120I	GEM_ENST00000396194.2_Missense_Mutation_p.V120I	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	120					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCCCATCAACCATCAGGGTT	0.413000													6	58					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655235	19655235	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19655235C>T	ENST00000586018.1	+	8	2001	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	CILP2_ENST00000291495.5_Silent_p.F627F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	627						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTGCGCTTCGTGGACAGCG	0.721000													6	104					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629498	179629498	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179629498G>A	ENST00000589042.1	-	42	9968	c.9744C>T	c.(9742-9744)gtC>gtT	p.V3248V	TTN_ENST00000360870.5_Silent_p.V3248V|TTN_ENST00000342175.6_Silent_p.V3202V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.V3202V|TTN_ENST00000342992.6_Silent_p.V3248V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V3248V|TTN_ENST00000359218.5_Silent_p.V3202V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2978	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCACAGTGACAGGCTGGA	0.512000													22	44					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51294799	51294799	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51294799C>T	ENST00000261842.5	+	21	3460	c.3354C>T	c.(3352-3354)tcC>tcT	p.S1118S	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.S1043S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1118					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGATCCTCCTGTTCTACTC	0.473000													36	83					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94230127	94230127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:94230127G>A	ENST00000415788.2	-	8	1063	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	SGCE_ENST00000428696.2_Missense_Mutation_p.R290C|SGCE_ENST00000437425.2_Missense_Mutation_p.R249C|SGCE_ENST00000447873.1_Missense_Mutation_p.R290C|SGCE_ENST00000265735.7_Missense_Mutation_p.R290C|SGCE_ENST00000445866.2_Missense_Mutation_p.R290C			O43556	SGCE_HUMAN	sarcoglycan, epsilon	290	Cys-rich.				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCTCCACGAATCACTTCC	0.373000													17	57					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464810	37464810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:37464810C>T	ENST00000299824.1	+	2	431	c.242C>T	c.(241-243)gCc>gTc	p.A81V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A81V|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	81					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGGAACGACGCCGAGGAAGGT	0.642000													9	28					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80214584	80214584	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:80214584C>T	ENST00000450142.2	-	8	1350	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E362K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E362K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E275K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E362K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	362						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAGTCATCTTCCTCATCTTCT	0.368000													26	46					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958747	54958747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:54958747G>A	ENST00000273286.5	-	2	665	c.503C>T	c.(502-504)tCc>tTc	p.S168F	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S92F|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	168						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACTGGGCATGGATTCCAGGAG	0.478000													39	64					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3189003	3189003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:3189003G>A	ENST00000400569.3	-	4	847	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	MYOM1_ENST00000356443.4_Missense_Mutation_p.L172F|MYOM1_ENST00000261606.7_Missense_Mutation_p.L172F			P52179	MYOM1_HUMAN	myomesin 1	172						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCACTAGCAAGAAGATTCCTC	0.453000													9	102					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114354999	114354999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114354999C>T	ENST00000261441.5	-	1	99	c.36G>A	c.(34-36)tgG>tgA	p.W12*		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	12						nucleus		p.W12C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCCGCCCTCCACTTGTCGG	0.627000													11	21					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43106920	43106920	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43106920G>A	ENST00000230419.4	+	9	1630	c.1409G>A	c.(1408-1410)aGc>aAc	p.S470N	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.S470N|PTK7_ENST00000481273.1_Missense_Mutation_p.S478N|PTK7_ENST00000345201.2_Missense_Mutation_p.S470N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	470	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGCATCAACAGCGTGGAGGTG	0.607000													6	28					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347262	48347262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:48347262G>A	ENST00000319856.4	+	1	791	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGTGCAGATGGGAGATGCAAA	0.473000													6	89					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39437925	39437925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:39437925C>T	ENST00000273158.4	+	7	1206	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	277					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGTGGCATCCCCCGAGCCCT	0.488000													71	145					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101020642	101020642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:101020642C>T	ENST00000360863.6	-	15	2516	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Nonsense_Mutation_p.W762*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.W593*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	774					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCATCTTTGTCCATGGCTCAA	0.378000													42	66					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863431	23863431	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23863431C>T	ENST00000405093.3	-	21	2601	c.2531G>A	c.(2530-2532)aGc>aAc	p.S844N	MYH6_ENST00000356287.3_Missense_Mutation_p.S844N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	844					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGTCTCTGCGCTCTTCAGCAG	0.572000													4	104					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227278	149227278	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:149227278C>T	ENST00000407073.1	+	9	2763	c.1766C>T	c.(1765-1767)gCa>gTa	p.A589V	MBD5_ENST00000404807.1_Missense_Mutation_p.A589V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	589						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCACAGCTAGCAAATCAAAAC	0.468000													5	160					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34113846	34113846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34113846C>T	ENST00000290178.4	-	16	2421	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000331923.4_Intron	NM_013329.3	NP_037461.2			PAX3 and PAX7 binding protein 1																		caaggcctgtccgtccagatt	0.443000													5	25					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74155525	74155525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74155525G>A	ENST00000269391.6	-	12	1327	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	RNF157_ENST00000319945.6_Missense_Mutation_p.P399S	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	399							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCATATGAAGGGAGCATTCCT	0.587000													18	46					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71231666	71231666	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:71231666G>A	ENST00000359042.2	+	3	239	c.45G>A	c.(43-45)aaG>aaA	p.K15K	C17orf80_ENST00000268942.8_Silent_p.K15K|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Silent_p.K15K|C17orf80_ENST00000426147.2_Silent_p.K15K|C17orf80_ENST00000535032.2_Silent_p.K15K|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Silent_p.K15K	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	15						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTACTGTAAGAAGCCATTTA	0.383000													4	41					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87691111	87691111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:87691111C>T	ENST00000436978.1	+	29	5174	c.4694C>T	c.(4693-4695)gCc>gTc	p.A1565V	PTPN13_ENST00000427191.2_Missense_Mutation_p.A1541V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1560V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1565V|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1369V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1560	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTGAATGGAGCCTCTTTGAAA	0.418000													5	113					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120188049	120188049	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:120188049C>T	ENST00000260264.4	+	12	1287	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	POU2F3_ENST00000543440.2_Missense_Mutation_p.S416F	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	416	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCAGTGAACTCCGCCTCCAGT	0.562000													26	57					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44099002	44099002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44099002C>T	ENST00000494774.1	+	10	909	c.888C>T	c.(886-888)acC>acT	p.T296T	DBNL_ENST00000440166.1_Silent_p.T192T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Silent_p.T247T|DBNL_ENST00000452943.1_Silent_p.T271T|DBNL_ENST00000490734.2_Silent_p.T201T|DBNL_ENST00000448521.1_Silent_p.T295T|DBNL_ENST00000468694.1_Silent_p.T304T	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	295					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AACCAGAGACCCACTTTGGCA	0.597000													12	41					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88902713	88902713	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:88902713C>T	ENST00000237623.7	+	5	409	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SPP1_ENST00000395080.3_Silent_p.D101D|SPP1_ENST00000360804.4_Silent_p.D74D|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	101					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACAGCCAGGACTCCATTGACT	0.438000													9	214					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38060587	38060587	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:38060587C>A	ENST00000250448.2	-	2	1463	c.1402G>T	c.(1402-1404)Gtc>Ttc	p.V468F	FOXA1_ENST00000540786.1_Missense_Mutation_p.V435F|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	468					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTGTTTAGGACGGGTCTGGAA	0.577000													15	42					0.000219431	0.000219831	1	1	0
KNG1	3827	broad.mit.edu	37	3	186442948	186442948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:186442948G>A	ENST00000265023.4	+	4	675	c.463G>A	c.(463-465)Gac>Aac	p.D155N	KNG1_ENST00000447445.1_Missense_Mutation_p.D155N|KNG1_ENST00000287611.2_Missense_Mutation_p.D155N|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	155	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCAGAGCCCAGACCTGGAGCC	0.502000													4	94					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044928	33044928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:33044928C>T	ENST00000242209.4	+	10	1847	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.L613F|FKBP9_ENST00000538443.1_Missense_Mutation_p.L422F|FKBP9_ENST00000490776.2_Missense_Mutation_p.L328F	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	560	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGAATTTAAACTCAAAGACCA	0.507000													17	66					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639368	9639368	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9639368C>T	ENST00000593003.1	-	6	1716	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	ZNF426_ENST00000253115.2_Silent_p.K451K|ZNF426_ENST00000535489.1_Silent_p.K451K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCCACATTCCTTACAGGTGT	0.433000													33	75					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85669550	85669550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85669550C>T	ENST00000310298.4	+	21	2450	c.2198C>T	c.(2197-2199)cCc>cTc	p.P733L	PDE8A_ENST00000557957.1_Missense_Mutation_p.P661L|PDE8A_ENST00000339708.5_Missense_Mutation_p.P687L|PDE8A_ENST00000394553.1_Missense_Mutation_p.P733L			O60658	PDE8A_HUMAN	phosphodiesterase 8A	733	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CCCTGCCGACCCCTGCAGTAC	0.453000													26	64					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169499028	169499028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:169499028C>T	ENST00000367796.3	-	16	5453	c.5252G>A	c.(5251-5253)gGt>gAt	p.G1751D	F5_ENST00000367797.3_Missense_Mutation_p.G1746D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1746	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TAGGAGGGGACCTATCAAGCC	0.373000													27	104					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738894	12738894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12738894G>A	ENST00000343325.4	+	4	713	c.551G>A	c.(550-552)gGa>gAa	p.G184E	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.G152E|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.G75E	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACTCACATTGGAGAAAAACCC	0.403000													26	54					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48272874	48272874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:48272874G>A	ENST00000229022.3	-	4	304	c.23C>T	c.(22-24)aCt>aTt	p.T8I	VDR_ENST00000395324.2_Missense_Mutation_p.T8I|VDR_ENST00000550325.1_Missense_Mutation_p.T58I|VDR_ENST00000549336.1_Missense_Mutation_p.T8I|VDR_ENST00000535672.1_5'UTR	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	8					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.T8I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGGCAGGGAAGTGCTGGCCGC	0.607000													23	31					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36979535	36979535	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36979535G>A	ENST00000274963.8	+	4	603	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	144	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCTTCCCAGAGGATGTGGTCA	0.582000													23	45					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415674	74415674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:74415674C>T	ENST00000376332.3	-	7	1104	c.608G>A	c.(607-609)aGt>aAt	p.S203N	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.S203N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	203					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCCAGCATCACTGGAACATGG	0.602000													9	9					0	0	1	0	0
ARRDC3	57561	broad.mit.edu	37	5	90671424	90671424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:90671424G>A	ENST00000265138.3	-	4	783	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	173					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTGCCTGCTTGGGGTGACTGT	0.368000													6	82					0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48146518	48146518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:48146518G>A	ENST00000331803.4	+	8	1108	c.485G>A	c.(484-486)tGc>tAc	p.C162Y	UPP1_ENST00000395564.4_Missense_Mutation_p.C162Y|UPP1_ENST00000341253.4_Missense_Mutation_p.C162Y|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.C25Y			Q16831	UPP1_HUMAN	uridine phosphorylase 1	162					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GTGGATACCTGCTTCAAGGCA	0.493000													24	47					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39873007	39873007	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:39873007C>T	ENST00000502986.2	+	11	1391	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.L370L	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	370					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAAACCATCTCCCAGGGCCTC	0.532000													5	84					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219614006	219614006	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219614006G>A	ENST00000392102.1	+	14	2971	c.2631G>A	c.(2629-2631)aaG>aaA	p.K877K	TTLL4_ENST00000442769.1_Silent_p.K813K|TTLL4_ENST00000258398.4_Silent_p.K877K|TTLL4_ENST00000457313.1_Silent_p.K712K	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	877	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCCTGCTCAAGATGTATGTGC	0.527000													26	50					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343410	72343410	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:72343410G>A	ENST00000299687.5	+	1	435	c.435G>A	c.(433-435)ctG>ctA	p.L145L	ZNF407_ENST00000582337.1_Silent_p.L145L|ZNF407_ENST00000577538.1_Silent_p.L145L|ZNF407_ENST00000309902.6_Silent_p.L145L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTGTTTCTCTGAAAACAGACA	0.438000													5	40					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300331	62300331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62300331C>T	ENST00000378024.4	-	5	1832	c.1558G>A	c.(1558-1560)Gtt>Att	p.V520I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	520					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGCAGAAACCTTAATATCT	0.453000													12	161					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18384712	18384712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:18384712G>A	ENST00000441493.2	-	5	975	c.623C>T	c.(622-624)aCt>aTt	p.T208I	MICAL3_ENST00000383094.3_Missense_Mutation_p.T208I|MICAL3_ENST00000414725.2_Missense_Mutation_p.T208I|MICAL3_ENST00000444520.1_Missense_Mutation_p.T208I|MICAL3_ENST00000400561.2_Missense_Mutation_p.T208I|MICAL3_ENST00000429452.1_Missense_Mutation_p.T208I|MICAL3_ENST00000585038.1_Missense_Mutation_p.T208I|MICAL3_ENST00000207726.7_Missense_Mutation_p.T208I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	208						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACAGGATGAGTCTTGGGGTG	0.527000													4	33					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017918	101017918	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:101017918G>A	ENST00000537247.1	+	10	1977	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	GAS2L3_ENST00000547754.1_Silent_p.K445K|GAS2L3_ENST00000266754.5_Silent_p.K445K|GAS2L3_ENST00000539410.1_Silent_p.K445K			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	445					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAGGCCAAGGTTATTCCAG	0.413000													10	110					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228172566	228172566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:228172566G>A	ENST00000396578.3	+	48	4555	c.4393G>A	c.(4393-4395)Gtg>Atg	p.V1465M	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1465	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAGGGGACAGTGCCACTCTA	0.507000													17	58					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158557374	158557374	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:158557374G>A	ENST00000251527.5	-	9	1304	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	441	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCACCTCATAGACTTCATTCC	0.527000													11	179					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967154	64967154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64967154C>T	ENST00000326648.3	+	4	2229	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	701						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTCCCCAACTCAAGCCCAT	0.527000													10	178					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28608344	28608344	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:28608344C>T	ENST00000220562.4	+	7	3623	c.2721C>T	c.(2719-2721)cgC>cgT	p.R907R	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.R523R	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	907						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCAAGACACGCCTGCCCCATG	0.562000													38	76					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452602	58452602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58452602C>T	ENST00000282308.3	-	3	1770	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	525					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAAAAACTTCCCACATTCATT	0.458000													7	104					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112160	145112160	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145112160C>T	ENST00000426825.1	-	11	1567	c.1486G>A	c.(1486-1488)Gca>Aca	p.A496T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	496							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ATGGCACATGCATGCTGCCCA	0.662000													6	21					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100133655	100133655	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:100133655G>A	ENST00000395996.1	+	8	1299	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	VPS13B_ENST00000441350.2_Silent_p.K396K|VPS13B_ENST00000355155.1_Silent_p.K396K|VPS13B_ENST00000357162.2_Silent_p.K396K|VPS13B_ENST00000358544.2_Silent_p.K396K			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	396					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGCACAAAGGCAACGGTGA	0.353000													10	74					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36657346	36657346	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:36657346C>T	ENST00000543751.1	+	12	1211	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	MELK_ENST00000536860.1_Missense_Mutation_p.P340S|MELK_ENST00000541717.1_Intron|MELK_ENST00000538311.1_Missense_Mutation_p.P194S|MELK_ENST00000536329.1_Missense_Mutation_p.P317S|MELK_ENST00000545008.1_Missense_Mutation_p.P317S|MELK_ENST00000536987.1_Missense_Mutation_p.P257S|MELK_ENST00000298048.2_Missense_Mutation_p.P388S	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	388						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCTGCTACTCCCCGAACATC	0.378000													15	43					0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													16	41					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3155622	3155622	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:3155622C>T	ENST00000381075.2	+	15	1483	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	PFKP_ENST00000381125.4_Missense_Mutation_p.A428V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	428					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATGAACGCAGCCGTACGCTCA	0.617000													12	39					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130981500	130981500	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130981500C>T	ENST00000341179.7	+	4	650	c.558C>T	c.(556-558)gcC>gcT	p.A186A	DNM1_ENST00000475805.1_Silent_p.A186A|DNM1_ENST00000486160.1_Silent_p.A186A|DNM1_ENST00000372923.3_Silent_p.A186A|DNM1_ENST00000393594.3_Silent_p.A186A	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	186					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATTCTGACGCCCTCAAGGTCG	0.572000													10	77					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105150759	105150759	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:105150759G>A	ENST00000303694.5	+	3	676	c.237G>A	c.(235-237)caG>caA	p.Q79Q	CHST11_ENST00000549260.1_Silent_p.Q74Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	79					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCCTGCACCAGATGCGGCGGG	0.567000													18	36					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57099822	57099822	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:57099822G>A	ENST00000261556.6	+	13	1779	c.1657G>A	c.(1657-1659)Gta>Ata	p.V553I	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.V87I	NM_017799.3	NP_060269.3			transmembrane protein 260																		TTTGGAGATTGTATTCAACCC	0.373000													5	48					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161123828	161123828	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161123828C>T	ENST00000368003.5	+	1	287	c.41C>T	c.(40-42)cCg>cTg	p.P14L	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	14					protein ufmylation		protein binding|UFM1 conjugating enzyme activity	p.P14Q(1)		endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCTGAGATCCCGGTGCTGAAG	0.557000													5	97					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48336660	48336660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48336660C>T	ENST00000421967.1	-	5	368	c.323G>A	c.(322-324)gGa>gAa	p.G108E	NME6_ENST00000415644.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.G100E|NME6_ENST00000451657.1_Missense_Mutation_p.D87N|NME6_ENST00000426723.1_Intron|NME6_ENST00000442597.1_Missense_Mutation_p.G100E|NME6_ENST00000447314.1_Missense_Mutation_p.G55E|NME6_ENST00000435684.1_Missense_Mutation_p.D87N|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000450160.1_Missense_Mutation_p.D87N|NME6_ENST00000452211.1_Missense_Mutation_p.G100E|NME6_ENST00000426689.2_Missense_Mutation_p.G100E|ZNF589_ENST00000412564.1_Intron	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	100					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCTGGTGGGTCCCATGAGCGT	0.582000													6	54					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579191	24579191	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:24579191G>A	ENST00000358321.3	+	2	504	c.243G>A	c.(241-243)cgG>cgA	p.R81R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	81					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						TTGTGGTGCGGCACTTCAAGA	0.627000													9	36					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885469	77885469	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:77885469C>T	ENST00000340067.3	-	2	410	c.132G>A	c.(130-132)caG>caA	p.Q44Q	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	44	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGCAGTTGCCCTGGCTGTCCC	0.577000													4	35					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753810	42753810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42753810C>T	ENST00000222329.4	-	4	611	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.V77M	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	152					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGGACAGCACCTCGGAGGGC	0.687000													21	33					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850402	20850402	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:20850402G>A	ENST00000262715.5	-	29	4294	c.4254C>T	c.(4252-4254)gcC>gcT	p.A1418A	TEP1_ENST00000556935.1_Silent_p.A1310A|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1418	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGACTTCTAGGGCAGTCAAGG	0.622000													3	49					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109414726	109414726	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:109414726G>A	ENST00000372073.1	+	6	1001	c.665G>A	c.(664-666)aGc>aAc	p.S222N	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.S222N|TMEM164_ENST00000372072.3_Missense_Mutation_p.S73N|TMEM164_ENST00000288381.4_Missense_Mutation_p.S183N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	222						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TATCACTTCAGCGTCTTGCAG	0.507000													8	241					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3673385	3673385	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3673385C>T	ENST00000294600.2	+	4	726	c.642C>T	c.(640-642)agC>agT	p.S214S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	214										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGGTCACCAGCAGCTCAGTCG	0.567000													25	54					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260339	35260339	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:35260339C>T	ENST00000342280.4	+	2	613	c.525C>T	c.(523-525)cgC>cgT	p.R175R		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	175					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAGTGGCGCCTGTACGGCT	0.622000													19	31					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15615843	15615843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:15615843C>T	ENST00000281513.5	-	14	1334	c.1309G>A	c.(1309-1311)Gct>Act	p.A437T	NBAS_ENST00000441750.1_Missense_Mutation_p.A437T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	437										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATGGGTAGCAGTGACTTGA	0.358000													5	58					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149775931	149775931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149775931G>A	ENST00000451292.1	+	25	4087	c.3979G>A	c.(3979-3981)Gcg>Acg	p.A1327T	TCOF1_ENST00000377797.3_Missense_Mutation_p.A1291T|TCOF1_ENST00000323668.7_Missense_Mutation_p.A1213T|TCOF1_ENST00000513346.1_Missense_Mutation_p.A1290T|TCOF1_ENST00000445265.2_Missense_Mutation_p.A1214T|TCOF1_ENST00000439160.2_Missense_Mutation_p.A1253T|TCOF1_ENST00000504761.2_Missense_Mutation_p.A1290T			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1290					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAACCCTGGCGCTGCAAAG	0.607000													27	61					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448050	121448050	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121448050C>T	ENST00000393667.3	-	4	497	c.387G>A	c.(385-387)gaG>gaA	p.E129E	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Silent_p.E129E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	129					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAAGTTGCTCCTCTGACTGAG	0.388000													38	53					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36482817	36482817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36482817C>T	ENST00000342292.4	-	11	6655	c.6635G>A	c.(6634-6636)gGc>gAc	p.G2212D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2212						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCATGCTGCCTGCTTCCTT	0.572000													6	76					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547802	52547802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52547802C>T	ENST00000321725.6	+	31	3416	c.3340C>T	c.(3340-3342)Ctc>Ttc	p.L1114F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1114	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTACACATCCTCAGCCAGGT	0.592000													31	42					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44050157	44050157	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44050157C>T	ENST00000279036.6	+	9	1248	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	PIGT_ENST00000279035.9_Missense_Mutation_p.P288S|PIGT_ENST00000545755.1_Missense_Mutation_p.P128S|PIGT_ENST00000341555.5_Missense_Mutation_p.P196S|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Missense_Mutation_p.P334S|PIGT_ENST00000535404.1_Missense_Mutation_p.P235S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	390					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GGACACCGTACCCTGGTATCT	0.607000													12	39					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530629	20530629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:20530629C>T	ENST00000504154.1	+	16	1772	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	SLIT2_ENST00000273739.5_Missense_Mutation_p.P511L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P499L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P503L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	507	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGGCTTGCCCTGAAAAGTGT	0.413000													27	81					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42032746	42032746	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42032746G>A	ENST00000359308.4	+	4	1216	c.561G>A	c.(559-561)agG>agA	p.R187R	XRCC6_ENST00000405506.1_Silent_p.R137R|XRCC6_ENST00000428575.2_Silent_p.R54R|XRCC6_ENST00000405878.1_Silent_p.R187R|XRCC6_ENST00000402580.3_Silent_p.R146R|XRCC6_ENST00000360079.3_Silent_p.R187R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	187					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GCCGGGCCAGGACCAAAGCCG	0.423000								Non-homologous end-joining					5	81					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869824	201869824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201869824C>T	ENST00000367288.4	-	2	563	c.317G>A	c.(316-318)aGa>aAa	p.R106K		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	106					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTGGCATCTCTGCCCCTTTC	0.473000													40	58					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62156622	62156622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62156622G>A	ENST00000415229.2	+	5	724	c.509G>A	c.(508-510)gGt>gAt	p.G170D	ASRGL1_ENST00000301776.5_Missense_Mutation_p.G170D|ASRGL1_ENST00000535727.1_Missense_Mutation_p.G42D	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	170					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGAACCGTGGGTGCTGTTGCC	0.458000													14	151					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744476	25744476	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:25744476G>A	ENST00000357816.2	-	3	1400	c.925C>T	c.(925-927)Ccg>Tcg	p.P309S	AMER2_ENST00000381853.3_Missense_Mutation_p.P309S|AMER2_ENST00000515384.1_Missense_Mutation_p.P428S					APC membrane recruitment protein 2																		ACCTCGTCCGGGCTGGCCATC	0.652000													13	21					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258090	25258090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:25258090C>T	ENST00000328086.7	-	5	2230	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	476					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAATTCGATGCCTATTTCATC	0.453000													34	124					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40804351	40804351	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40804351C>T	ENST00000248929.9	+	16	1889	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	SGSM3_ENST00000454798.2_Missense_Mutation_p.A500V	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	567	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCTGCCCGGCCCTTAAGGCC	0.632000													16	25					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584492	138584492	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:138584492G>A	ENST00000251691.4	+	12	2038	c.1872G>A	c.(1870-1872)agG>agA	p.R624R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	624	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACTCGGGCAGGTCCGACGTGT	0.542000													20	237					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44053201	44053201	+	Missense_Mutation	SNP	G	G	A	rs144072267		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44053201G>A	ENST00000279036.6	+	11	1546	c.1466G>A	c.(1465-1467)aGt>aAt	p.S489N	PIGT_ENST00000279035.9_Missense_Mutation_p.S387N|PIGT_ENST00000545755.1_Missense_Mutation_p.S227N|PIGT_ENST00000341555.5_Missense_Mutation_p.S295N|PIGT_ENST00000372689.5_Missense_Mutation_p.S422N|PIGT_ENST00000543458.2_Missense_Mutation_p.S433N|PIGT_ENST00000535404.1_Missense_Mutation_p.S334N	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	489					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGGGAAGAGAGTCCCCTCTTC	0.577000													17	18					0	0	1	0	0
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48751400C>T	ENST00000396779.3	-	6	597	c.449G>A	c.(448-450)gGg>gAg	p.G150E	TIMM17B_ENST00000465150.2_Missense_Mutation_p.G150E|TIMM17B_ENST00000376582.3_Missense_Mutation_p.G100E|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000495490.2_Missense_Mutation_p.G120E	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	100					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G100V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGCACAGCCCCGGTCAATGC	0.642000													9	7					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	11905405	11905405	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:11905405C>T	ENST00000396373.4	+	2	329	c.55C>T	c.(55-57)Cct>Tct	p.P19S	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	19						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTCATATACACCTCCAGAGAG	0.542000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								31	70					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657479	143657479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:143657479G>A	ENST00000392899.1	+	1	453	c.416G>A	c.(415-417)gGg>gAg	p.G139E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATGCATGGAGGGCTGTGTGCT	0.557000													39	121					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474714	73474714	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:73474714G>A	ENST00000252034.7	+	25	2029	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	ELN_ENST00000429192.1_Missense_Mutation_p.A530T|ELN_ENST00000380553.4_Missense_Mutation_p.A408T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.A544T|ELN_ENST00000414324.1_Missense_Mutation_p.A520T|ELN_ENST00000380575.4_Missense_Mutation_p.A515T|ELN_ENST00000380562.4_Missense_Mutation_p.A550T|ELN_ENST00000380576.5_Missense_Mutation_p.A525T|ELN_ENST00000320399.6_Missense_Mutation_p.A544T|ELN_ENST00000458204.1_Missense_Mutation_p.A534T|ELN_ENST00000357036.5_Missense_Mutation_p.A549T|ELN_ENST00000380584.4_Missense_Mutation_p.A496T|ELN_ENST00000320492.7_Missense_Mutation_p.A463T|ELN_ENST00000358929.4_Missense_Mutation_p.A579T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	573	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AGGAGCTGCAGCTGGGCTTGG	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	90					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59191942	59191942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:59191942G>A	ENST00000380516.2	-	7	871	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	262					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTTCTAGGAGGTCATCACCA	0.458000													21	98					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26518085	26518085	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26518085C>T	ENST00000407008.3	+	9	1993	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	425	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TAGCCCACCCCTACCTAGATG	0.428000													4	62					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103084	6103084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6103084G>A	ENST00000261405.5	-	37	6796	c.6542C>T	c.(6541-6543)gCc>gTc	p.A2181V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2181					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGAGGTGGGCATAAGAGGC	0.552000													8	27					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349206	70349206	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70349206C>T	ENST00000333646.6	+	26	3817	c.3618C>T	c.(3616-3618)caC>caT	p.H1206H	MED12_ENST00000374080.3_Silent_p.H1206H|MED12_ENST00000374102.1_Silent_p.H1206H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1206					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCGACCGCCACCTGCTGGCTG	0.587000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118706898	118706898	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:118706898C>T	ENST00000376300.2	-	14	1279	c.1142G>A	c.(1141-1143)aGt>aAt	p.S381N	CCDC93_ENST00000319432.5_Splice_Site_p.S380N	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	381										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AACCTCTTACCTTGGATCAGC	0.408000													44	77					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47184012	47184012	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:47184012G>A	ENST00000319190.5	+	3	751	c.383G>A	c.(382-384)gGc>gAc	p.G128D	TTC7A_ENST00000409245.1_Missense_Mutation_p.G94D|RP11-15I20.1_ENST00000607950.1_RNA|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.G128D	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	128							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGATCCTGGGCAAACTGCAT	0.547000													4	66					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51780755	51780755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51780755C>T	ENST00000251076.5	-	21	5328	c.5041G>A	c.(5041-5043)Ggt>Agt	p.G1681S	DMXL2_ENST00000449909.3_Missense_Mutation_p.G1045S|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1681S|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1681						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTAAACAGACCCCACACTACT	0.358000													30	59					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45855526	45855526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45855526C>T	ENST00000391945.4	-	22	2208	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N	ERCC2_ENST00000391944.3_Missense_Mutation_p.D633N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	711					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.D711Y(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACACCCTCGTCCACGGTCAGG	0.677000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				26	40					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42200438	42200438	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42200438G>A	ENST00000541110.1	-	17	3887	c.3319C>T	c.(3319-3321)Ccc>Tcc	p.P1107S	TRERF1_ENST00000354325.2_Missense_Mutation_p.P1004S|TRERF1_ENST00000372922.4_Missense_Mutation_p.P1087S|TRERF1_ENST00000340840.2_Missense_Mutation_p.P1016S|TRERF1_ENST00000372917.4_Missense_Mutation_p.P1016S			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1087	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTGCAGGGGAAGATGGTG	0.602000													8	18					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176750758	176750758	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:176750758C>T	ENST00000430069.1	-	14	1676		c.e14+1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGAAGACATACCTGCGTGTTC	0.423000													3	8					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997420	2997420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:2997420C>T	ENST00000489288.2	+	3	664	c.512C>T	c.(511-513)cCc>cTc	p.P171L	RHNO1_ENST00000461997.2_Missense_Mutation_p.P157L|RHNO1_ENST00000464682.2_3'UTR	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		GAACTCATTCCCCAAGATCAG	0.502000													12	126					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362278	362278	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:362278C>T	ENST00000342640.4	-	8	1104	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	THEG_ENST00000346878.2_Silent_p.R330R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	354					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGGGACGCCTGTCGTATC	0.602000													4	110					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2993438	2993438	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:2993438C>T	ENST00000246112.4	+	15	1596	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	TLE6_ENST00000452088.1_Silent_p.S342S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	342					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATAATGAGCCTGTCCCACA	0.657000													3	33					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44589308	44589308	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44589308G>A	ENST00000322927.2	-	12	1829	c.1729C>T	c.(1729-1731)Ctc>Ttc	p.L577F	ZNF335_ENST00000426788.1_Missense_Mutation_p.L422F	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L577F(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGCTGCGTGAGTCTTTTCTGC	0.587000													32	41					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259451	55259451	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:55259451G>A	ENST00000275493.2	+	21	2686	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N	EGFR_ENST00000455089.1_Missense_Mutation_p.D792N|EGFR_ENST00000454757.2_Missense_Mutation_p.D784N|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	837	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGCACCGCGACCTGGCAGC	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			32	88					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77107902	77107902	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:77107902G>A	ENST00000426216.2	+	24	2832	c.2815G>A	c.(2815-2817)Ggc>Agc	p.G939S	ATP9B_ENST00000307671.7_Missense_Mutation_p.G939S|ATP9B_ENST00000543761.1_Missense_Mutation_p.G260S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	939					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATGCACAGGGGCCTTATCAT	0.637000													15	6					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284474	47284474	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:47284474G>A	ENST00000271153.4	+	12	1560	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	CYP4B1_ENST00000371919.4_Silent_p.G494G|CYP4B1_ENST00000371923.4_Silent_p.G509G|CYP4B1_ENST00000452782.2_Silent_p.G346G			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	508					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGGCCCTGGGTCTGGGAAGT	0.627000													17	43					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83378147	83378147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83378147G>A	ENST00000273920.3	+	5	870	c.602G>A	c.(601-603)gGg>gAg	p.G201E	ENOPH1_ENST00000509635.1_Missense_Mutation_p.G113E	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	201					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GACAGCATTGGGTGCTCAACC	0.403000													8	97					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66707937	66707937	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:66707937A>G	ENST00000247815.4	+	5	1911	c.1852A>G	c.(1852-1854)Atc>Gtc	p.I618V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	618					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAAGCTTATTATCCTTGGTAA	0.338000													22	63					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352252	10352252	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:10352252G>A	ENST00000255381.2	-	31	4404	c.4294C>T	c.(4294-4296)Ctc>Ttc	p.L1432F	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1432					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAATCATGAGGTCCTCTACT	0.468000													9	51					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924230	70924230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:70924230G>A	ENST00000603540.1	+	2	272	c.14G>A	c.(13-15)gGg>gAg	p.G5E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G5E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	5					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCAGTGGATGGGACCCTCGTG	0.532000													4	89					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050584	49050584	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49050584G>A	ENST00000395474.3	+	2	1987	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	WDR6_ENST00000608424.1_Silent_p.G539G|WDR6_ENST00000448293.1_Silent_p.G488G|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	539					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTGGTGCTGGGGCACCTGTAG	0.637000													4	43					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51378490	51378490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:51378490C>T	ENST00000216392.7	-	16	2259	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PYGL_ENST00000532462.1_Missense_Mutation_p.V643I|PYGL_ENST00000544180.2_Missense_Mutation_p.V609I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	643					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAGAAGATGACTTTCAACTTG	0.448000													16	86					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91864138	91864138	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:91864138T>C	ENST00000394507.1	-	10	1612	c.829A>G	c.(829-831)Agt>Ggt	p.S277G	KRIT1_ENST00000394505.2_Missense_Mutation_p.S277G|KRIT1_ENST00000340022.2_Missense_Mutation_p.S277G|KRIT1_ENST00000394503.2_Missense_Mutation_p.S277G|KRIT1_ENST00000412043.2_Missense_Mutation_p.S277G	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	277					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGTGACACTGCTCATGCTT	0.323000													20	76					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90405565	90405565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:90405565C>T	ENST00000369393.3	-	61	9645	c.9530G>A	c.(9529-9531)gGc>gAc	p.G3177D	MDN1_ENST00000428876.1_Missense_Mutation_p.G3177D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3177					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGTGTCTGGCCCACATGCTG	0.617000													14	40					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120502626	120502626	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120502626G>A	ENST00000397558.2	+	4	852	c.852G>A	c.(850-852)gaG>gaA	p.E284E	CCDC64_ENST00000446727.2_Silent_p.E28E	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	284					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACCGTGGAGGAGCTACAGG	0.552000													55	111					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306837	120306837	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:120306837G>A	ENST00000369406.3	-	2	566	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F	HMGCS2_ENST00000544913.2_Missense_Mutation_p.L173F|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	173					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GCATTGAAGAGGGAGGCAGTA	0.483000													5	50					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133201326	133201326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:133201326G>A	ENST00000320574.5	-	49	6861	c.6818C>T	c.(6817-6819)aCc>aTc	p.T2273I	POLE_ENST00000535270.1_Missense_Mutation_p.T2246I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2273					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCACTCCAGGGTCTCCAGGAG	0.612000								DNA polymerases (catalytic subunits)					8	67					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71944012	71944012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71944012C>T	ENST00000298229.2	+	16	2149	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	INPPL1_ENST00000538751.1_Nonsense_Mutation_p.R407*|INPPL1_ENST00000541756.1_Nonsense_Mutation_p.R407*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	649					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGTCTTCCTTCGATTCAGTGA	0.572000													11	28					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131730926	131730926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131730926G>A	ENST00000372577.2	+	9	748	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	243					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TAAAGAGCAAGGATTTGGTAG	0.403000													6	104					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21805122	21805122	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:21805122C>T	ENST00000449193.2	-	4	3882	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	SKIDA1_ENST00000444772.3_Missense_Mutation_p.E465K	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		TTCCTTATCTCAGCGAAACAA	0.532000													18	66					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682486	126682486	+	Silent	SNP	T	T	C	rs76949963	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:126682486T>C	ENST00000309035.6	-	6	2599	c.2469A>G	c.(2467-2469)caA>caG	p.Q823Q	CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617000													5	81					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684013	100684013	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100684013C>T	ENST00000306151.4	+	3	9380	c.9316C>T	c.(9316-9318)Cca>Tca	p.P3106S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3106	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGCACTCCATTAACAGG	0.502000													31	579					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160267950	160267950	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:160267950A>G	ENST00000264431.4	+	19	3448	c.3029A>G	c.(3028-3030)aAt>aGt	p.N1010S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1010					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTGCCTAAGAATCCTGGTGAC	0.443000													47	19					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396834	36396834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36396834G>A	ENST00000317020.6	-	2	691	c.391C>T	c.(391-393)Cct>Tct	p.P131S	KIAA0895_ENST00000436884.1_Missense_Mutation_p.P31S|KIAA0895_ENST00000338533.5_Missense_Mutation_p.P169S|KIAA0895_ENST00000297063.6_Missense_Mutation_p.P182S|KIAA0895_ENST00000440378.1_Missense_Mutation_p.P131S|KIAA0895_ENST00000415803.2_Missense_Mutation_p.P169S|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000480192.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	182										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AACTTTACAGGACTTGACACT	0.493000													38	146					0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871331	20871331	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20871331C>T	ENST00000324344.4	-	3	1077	c.792G>A	c.(790-792)gaG>gaA	p.E264E	DCUN1D3_ENST00000563934.1_Silent_p.E264E|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3		DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TTGGCCAGGCCTCATCTTCAC	0.552000													25	53					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31478776	31478776	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:31478776C>T	ENST00000373747.3	-	5	743	c.644G>A	c.(643-645)gGg>gAg	p.G215E	PUM1_ENST00000423018.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.G251E|PUM1_ENST00000440538.2_Missense_Mutation_p.G215E|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000257075.5_Missense_Mutation_p.G215E|PUM1_ENST00000426105.2_Missense_Mutation_p.G215E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	215					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTAGTCCCCCACTCTCCGA	0.498000													17	35					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161732	142161732	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142161732C>T	ENST00000519811.1	+	7	940	c.870C>T	c.(868-870)atC>atT	p.I290I	DENND3_ENST00000262585.2_Silent_p.I210I|DENND3_ENST00000424248.1_Silent_p.I210I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	210	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACATGCATCCTGACGGAAC	0.547000													31	60					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156716525	156716525	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:156716525C>T	ENST00000264424.8	+	7	841	c.759C>T	c.(757-759)gtC>gtT	p.V253V	GUCY1B3_ENST00000502959.1_Silent_p.V275V|GUCY1B3_ENST00000503520.1_Silent_p.V253V|GUCY1B3_ENST00000505154.1_Silent_p.V185V|GUCY1B3_ENST00000507146.1_Silent_p.V185V|GUCY1B3_ENST00000505764.1_Silent_p.V233V|GUCY1B3_ENST00000513437.1_Silent_p.V185V	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	253					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTCTGTCTGTCTTCTCGCTGG	0.348000													14	2					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568124	5568124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:5568124C>T	ENST00000331789.5	-	4	781	c.590G>A	c.(589-591)gGc>gAc	p.G197D		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	197					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAAGCTGTAGCCGCGCTCGGT	0.617000													28	84					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476825	52476825	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52476825G>A	ENST00000231721.2	-	2	213	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	72	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGGCCACCCAGAAAGAGGCGG	0.622000													8	14					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70679473	70679473	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70679473C>T	ENST00000449580.1	+	37	5286	c.5235C>T	c.(5233-5235)gtC>gtT	p.V1745V	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Silent_p.V1711V|TAF1_ENST00000423759.1_Silent_p.V1734V|TAF1_ENST00000276072.3_Silent_p.V1732V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1711	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGCCAGTGTCCTGTATGAGG	0.473000													33	60					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55424092	55424092	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55424092C>T	ENST00000594765.1	+	7	790	c.765C>T	c.(763-765)ctC>ctT	p.L255L	NCR1_ENST00000598576.1_Silent_p.L243L|NCR1_ENST00000350790.5_Silent_p.L161L|NCR1_ENST00000357397.5_Silent_p.L149L|NCR1_ENST00000338835.5_Silent_p.L239L|NCR1_ENST00000291890.4_Silent_p.L256L|NCR1_ENST00000447255.1_Silent_p.L255L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	256					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.L256L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCAGAATCTCCTTCGGATGG	0.532000													6	58					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513097	99513097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:99513097G>A	ENST00000261037.3	+	5	732	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G118R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	118	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGTTTACGAGGGGAACAAGG	0.522000													3	18					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166808	44166808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:44166808G>A	ENST00000431837.1	+	4	520	c.212G>A	c.(211-213)gGa>gAa	p.G71E	IRAK4_ENST00000551736.1_Missense_Mutation_p.G195E|IRAK4_ENST00000448290.2_Missense_Mutation_p.G195E|IRAK4_ENST00000440781.2_Missense_Mutation_p.G71E	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	195	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATGGGAGAGGGAGGATTTGGA	0.348000													4	40					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150112965	150112965	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:150112965C>T	ENST00000447998.2	-	5	617	c.502G>A	c.(502-504)Gca>Aca	p.A168T	DCTN4_ENST00000424236.1_Missense_Mutation_p.A111T|DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000446090.2_Missense_Mutation_p.A168T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	168						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACGTCGTGCCAGTTTCTTG	0.403000													12	99					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158476054	158476054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:158476054C>T	ENST00000409339.3	-	9	975	c.862G>A	c.(862-864)Gac>Aac	p.D288N	NCAPG2_ENST00000449727.2_Missense_Mutation_p.D288N|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D288N|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D80N|NCAPG2_ENST00000409423.1_Missense_Mutation_p.D288N	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	288					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AACATGAAGTCCTGGATGCAA	0.448000													16	164					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085586	35085586	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35085586G>A	ENST00000290378.4	-	3	969	c.314C>T	c.(313-315)aCc>aTc	p.T105I	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	105					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTGAGCAGGGTGGGGTGCTC	0.572000													12	85					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071210	10071210	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10071210G>A	ENST00000264828.3	-	67	5200	c.5115C>T	c.(5113-5115)acC>acT	p.T1705T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1705	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ATTCGAAAAGGGTCTTCGTCT	0.567000													39	70					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56867092	56867092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56867092G>A	ENST00000311966.4	-	14	1647	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	457					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAATTGAAGAGAGACACCAAC	0.413000													4	72					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67229886	67229886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67229886C>T	ENST00000379378.3	+	7	1069	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	337	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCCTTTGAGCCCATCAAGGCA	0.592000													33	108					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85638653	85638653	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:85638653A>T	ENST00000393217.2	+	27	5164	c.5103A>T	c.(5101-5103)aaA>aaT	p.K1701N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1701										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAGAAAAAAAAAATCAGGCAC	0.393000													27	29					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	71990742	71990742	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71990742C>T	ENST00000257515.8	+	4	634	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	FAM189A2_ENST00000455972.1_Missense_Mutation_p.P72S|FAM189A2_ENST00000303068.7_5'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	72						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAAACTCTTTCCGGTTCAGCC	0.473000													32	47					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7984301	7984301	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:7984301C>T	ENST00000543909.1	-	9	999	c.240G>A	c.(238-240)gaG>gaA	p.E80E	SLC2A14_ENST00000396589.2_Silent_p.E80E|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Silent_p.E95E|SLC2A14_ENST00000340749.5_Silent_p.E57E|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Silent_p.E57E|SLC2A14_ENST00000542546.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	80					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGAGCAGCACCTCAGAGGGAG	0.468000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	54					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72866405	72866405	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:72866405G>A	ENST00000325599.8	-	7	997	c.858C>T	c.(856-858)acC>acT	p.T286T	SHQ1_ENST00000463369.1_Silent_p.T258T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	286					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CAGTGACACGGGTTTCATAGC	0.403000													13	96					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495183	96495183	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96495183C>T	ENST00000285979.6	+	9	1654	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	CYP2C18_ENST00000339022.5_Silent_p.L426L|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGTACCAGCTCTGCTTCATTC	0.493000													7	96					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929013	49929013	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49929013C>T	ENST00000296474.3	-	16	3380	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	MST1R_ENST00000344206.4_Splice_Site_p.R1069H	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1118	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTCTGTGATGCCTGCAGAGCA	0.572000													33	44					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117176690	117176690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:117176690G>A	ENST00000003084.6	+	7	964	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	CFTR_ENST00000454343.1_Missense_Mutation_p.E278K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	278	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATACTGCTGGGAAGAAGCAAT	0.308000									Cystic Fibrosis				6	194					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202742407	202742407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:202742407C>T	ENST00000367265.3	-	4	1579	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E139K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	139	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E139K(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCACCTTCTTCTGCAACTAAC	0.393000													21	28					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101563797	101563797	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101563797G>A	ENST00000370449.4	+	10	1344	c.1231G>A	c.(1231-1233)Gcc>Acc	p.A411T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	411	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATCCAACTTGGCCAGGAAGGA	0.478000													24	51					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135300804	135300804	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135300804C>T	ENST00000285968.6	+	24	3477	c.3451C>T	c.(3451-3453)Cca>Tca	p.P1151S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1151					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCAGTGAAACCATACTCAGG	0.438000													21	65					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21675613	21675613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21675613C>T	ENST00000328843.6	+	26	4671	c.4640C>T	c.(4639-4641)aCt>aTt	p.T1547I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T1542I|DNAH11_ENST00000465593.1_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1547	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCCAGCGAACTTGGTCTCAC	0.388000									Kartagener syndrome				10	34					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754268	32754268	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32754268G>A	ENST00000249007.4	+	1	415	c.210G>A	c.(208-210)gaG>gaA	p.E70E	RFPL3_ENST00000382088.3_Silent_p.E41E|RFPL3_ENST00000397468.1_Silent_p.E41E	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	70							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCAGAAGGAGCCCCATGGGG	0.537000													44	61					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676112	11676112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:11676112C>T	ENST00000423059.4	-	2	918	c.667G>A	c.(667-669)Gcg>Acg	p.A223T		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGCGGGGGCGCCACCACATGA	0.617000										HNSCC(18;0.044)			15	48					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136511841	136511841	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:136511841C>T	ENST00000272638.9	+	4	638	c.327C>T	c.(325-327)gtC>gtT	p.V109V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	109					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCACAAGGTCCGACAGGTAA	0.428000													38	71					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7955215	7955215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:7955215C>T	ENST00000332175.8	+	7	1972	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PTPRM_ENST00000400060.4_Missense_Mutation_p.P312L|PTPRM_ENST00000444013.1_Missense_Mutation_p.P99L|PTPRM_ENST00000400053.4_Missense_Mutation_p.P250L|PTPRM_ENST00000580170.1_Missense_Mutation_p.P312L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	312	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGGATGGGCCCATTGTGGCC	0.577000													5	30					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48531615	48531615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:48531615G>A	ENST00000340802.6	+	13	1485	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	PFKM_ENST00000551804.1_Missense_Mutation_p.E319K|PFKM_ENST00000547587.1_Missense_Mutation_p.E350K|PFKM_ENST00000312352.7_Missense_Mutation_p.E350K|PFKM_ENST00000359794.5_Missense_Mutation_p.E350K|PFKM_ENST00000395233.2_Missense_Mutation_p.E319K	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	350					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCCCCTCATGGAATGTGTCCA	0.557000													47	80					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62039353	62039353	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:62039353G>A	ENST00000280772.2	-	2	350	c.159C>T	c.(157-159)caC>caT	p.H53H	ANK3_ENST00000373827.2_Silent_p.H47H|ANK3_ENST00000503366.1_Silent_p.H36H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTTTCAAGGTGTCCAGCTC	0.323000													39	79					0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386092	126386092	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:126386092C>T	ENST00000357061.3	+	0	544					NR_034158.1																						TCACCAACCACCAGAACCCTT	0.587000													14	20					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269394	1269394	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1269394C>T	ENST00000339381.5	+	6	2141	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	703					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGGTGGCCTTCCCGCCGGAGG	0.706000													11	17					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316922	19316922	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:19316922C>T	ENST00000461366.1	+	6	968	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	251							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGGGGATGCCATGAGCCCTG	0.602000													8	11					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								33	58					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27220592	27220592	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:27220592C>T	ENST00000230582.3	+	9	1029	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.V81V	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	338					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTAGATTGTCTTGCACAGCC	0.522000													6	56					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32295715	32295715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:32295715C>T	ENST00000409299.3	-	4	528	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	146						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGGATGTAGCCCTTCTCTACA	0.567000													9	46					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861973	52861973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:52861973C>T	ENST00000343457.3	-	4	1221	c.1215G>A	c.(1213-1215)tgG>tgA	p.W405*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	405						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACTTTTTTTGCCACAGTCTGT	0.562000													8	79					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155530302	155530302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:155530302G>A	ENST00000401878.3	+	10	1537	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	447	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCTCTCCAGGACCAGTGGAG	0.537000													8	26					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423088	33423088	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33423088C>T	ENST00000395064.2	+	2	479	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	71	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCTGCCTCTCCTTACTTCCA	0.557000													5	252					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13033570	13033570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13033570C>T	ENST00000588025.1	-	14	1779	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T	FARSA_ENST00000314606.4_Missense_Mutation_p.A507T|FARSA_ENST00000423140.2_Missense_Mutation_p.A476T			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	507					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGTCACGCAGCCTCCTGTGTG	0.622000													34	72					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15702070	15702070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:15702070C>T	ENST00000281171.4	+	14	2677	c.2347C>T	c.(2347-2349)Ctt>Ttt	p.L783F	PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.L783F|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	783	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCTCCAGCCTTCTTCCTGC	0.423000													56	128					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3559289	3559289	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:3559289C>T	ENST00000262919.5	+	15	2482	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	ATRN_ENST00000446916.2_Missense_Mutation_p.A805V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	805	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTACTACTGCCAAGGAGAAT	0.368000													24	52					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667834	49667834	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:49667834C>T	ENST00000249601.4	-	5	848	c.552G>A	c.(550-552)cgG>cgA	p.R184R	ARHGAP22_ENST00000435790.2_Silent_p.R190R|ARHGAP22_ENST00000374172.1_Silent_p.R75R|ARHGAP22_ENST00000417247.2_Silent_p.R94R|ARHGAP22_ENST00000417912.2_Silent_p.R200R|ARHGAP22_ENST00000374170.1_Silent_p.R94R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	184	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCCGCGCTCCCGGATGAAGT	0.647000													46	72					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89505618	89505618	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:89505618C>T	ENST00000361175.4	+	12	2105	c.1736C>T	c.(1735-1737)aCt>aTt	p.T579I	PAPSS2_ENST00000456849.1_Missense_Mutation_p.T584I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.T583I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	579					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATCTCAGGAACTCGAATGAGG	0.498000													6	43					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	697251	697251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:697251G>A	ENST00000251101.7	-	3	386	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ENOSF1_ENST00000539164.1_Nonsense_Mutation_p.Q100*|ENOSF1_ENST00000340116.7_Nonsense_Mutation_p.Q121*|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	100					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CATCTGAGCTGCCCATCACTT	0.453000													17	301					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352630	58352630	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58352630G>A	ENST00000442832.4	+	3	822	c.588G>A	c.(586-588)aaG>aaA	p.K196K	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.K196K	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	196					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										CTGGGGAGAAGTCAAACAGCA	0.488000													3	44					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38446393	38446393	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:38446393G>A	ENST00000373019.4	-	8	1510	c.555C>T	c.(553-555)taC>taT	p.Y185Y	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.Y132Y	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	185					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCATCTCTAGGTATCTACAGA	0.378000													5	94					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898133	175898133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:175898133C>T	ENST00000359240.3	+	5	2127	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	ADAM29_ENST00000514159.1_Missense_Mutation_p.P486L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P486L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P486L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	486	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGGAATTCCCTGTAAGGAG	0.453000													8	61					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67691612	67691612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:67691612C>T	ENST00000545606.1	+	6	1270	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	278					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTATTCAAGCCTTTGAATCA	0.299000													17	33					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369156	78369156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:78369156C>T	ENST00000278550.7	-	34	8719	c.8257G>A	c.(8257-8259)Gac>Aac	p.D2753N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TTGGCGCTGTCTGACAGTTCT	0.562000													115	192					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890312	113890312	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113890312C>T	ENST00000361779.3	+	6	641	c.296C>T	c.(295-297)aCc>aTc	p.T99I	IL1RN_ENST00000409930.3_Missense_Mutation_p.T133I|IL1RN_ENST00000259206.5_Missense_Mutation_p.T136I|IL1RN_ENST00000409052.1_Missense_Mutation_p.T99I|IL1RN_ENST00000354115.2_Missense_Mutation_p.T115I	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	133					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	AGTGGCCCCACCACCAGTTTT	0.572000									Lichen Sclerosis et Atrophicus, Familial Clustering of				45	56					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82786043	82786043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:82786043G>A	ENST00000265077.3	+	3	762	c.197G>A	c.(196-198)tGg>tAg	p.W66*	VCAN_ENST00000502527.2_Nonsense_Mutation_p.W66*|VCAN_ENST00000513984.1_Nonsense_Mutation_p.W66*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W66*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W66*|VCAN_ENST00000512590.2_Nonsense_Mutation_p.W18*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	66	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGCATCAAATGGTCTAAGATT	0.433000													20	65					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98591191	98591191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98591191G>A	ENST00000446306.3	+	63	9864	c.9803G>A	c.(9802-9804)gGt>gAt	p.G3268D	TRRAP_ENST00000355540.3_Intron|TRRAP_ENST00000359863.4_Intron			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3285	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGTTCAGTGGGTAACCAGTCC	0.592000													24	63					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96536835	96536835	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:96536835G>A	ENST00000376747.3	-	27	3208	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1046					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GGATTAGGAGGGGTGATTCAG	0.413000													26	57					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117568408	117568408	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:117568408G>A	ENST00000256652.4	+	8	2764	c.2706G>A	c.(2704-2706)gaG>gaA	p.E902E	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.E902E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	902	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAGATGGAGGATGCAGGAA	0.542000													11	77					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022893	131022893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131022893C>T	ENST00000421699.2	-	17	1540	c.1528G>A	c.(1528-1530)Gcg>Acg	p.A510T	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A498T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	510						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AGCTCGGCCGCCCGCTCCAGC	0.662000													21	105					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203567	140203567	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140203567C>T	ENST00000529859.1	+	1	2207	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P736L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P736L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGCAAGCCCACTCTGTTG	0.657000													36	58					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25804006	25804006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:25804006C>T	ENST00000399878.3	-	11	1977	c.1855G>A	c.(1855-1857)Ggt>Agt	p.G619S	SEL1L3_ENST00000264868.5_Missense_Mutation_p.G584S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G466S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	619						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTGTCAATACCCTGGTAGTGT	0.483000													18	23					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21892066	21892066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:21892066C>T	ENST00000319481.3	-	13	1180	c.974G>A	c.(973-975)tGg>tAg	p.W325*		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	325	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCTTCCAGCCAGTCCTGAAA	0.393000													31	60					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331174	206331174	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206331174G>A	ENST00000361052.3	+	9	1313	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	CTSE_ENST00000432969.2_Silent_p.Q271Q|CTSE_ENST00000358184.2_Missense_Mutation_p.A394T|CTSE_ENST00000360218.2_Silent_p.Q346Q			P14091	CATE_HUMAN	cathepsin E	399					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACTGGCCCCAGCAGTCCCCTA	0.532000													20	53					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40558444	40558444	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40558444C>T	ENST00000455577.2	+	5	1518	c.606C>T	c.(604-606)tcC>tcT	p.S202S	PAK6_ENST00000453867.1_Silent_p.S202S|PAK6_ENST00000560346.1_Silent_p.S202S|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Silent_p.S202S|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000441369.1_Silent_p.S202S|PAK6_ENST00000542403.2_Silent_p.S202S	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	202	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCAGAGCTCCCCACCAGGAG	0.677000													9	18					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27332861	27332861	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27332861G>A	ENST00000289166.5	-	2	1017	c.852C>T	c.(850-852)caC>caT	p.H284H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	284										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCAGGAGGTGGCAGTACT	0.677000													4	37					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811063	140811063	+	Silent	SNP	T	T	C	rs71855026		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:140811063T>C	ENST00000509479.2	-	2	2383	c.1527A>G	c.(1525-1527)caA>caG	p.Q509Q	MAML3_ENST00000327122.5_Silent_p.Q353Q|MAML3_ENST00000398940.1_Silent_p.Q37Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TTGAGtgctgttgctgctgct	0.507000													47	14					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30325538	30325538	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:30325538C>T	ENST00000389194.2	-	17	3383		c.e17+1		LTN1_ENST00000361371.5_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGATTCTTACCTGTTAAATA	0.333000													23	44					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145416	25145416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:25145416C>T	ENST00000332271.5	-	11	1705	c.1289G>A	c.(1288-1290)aGa>aAa	p.R430K	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R321K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R321K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	430					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGCCTTCTTCTTGGACTCAA	0.353000													26	45					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976097	161976097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161976097G>A	ENST00000294794.3	-	4	1136	c.713C>T	c.(712-714)gCc>gTc	p.A238V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A238V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	238	Poly-Ala.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCTGGGTGGGCGTAGGCTGC	0.522000													27	59					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71335036	71335036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:71335036G>A	ENST00000392650.3	-	45	6209	c.6209C>T	c.(6208-6210)gCc>gTc	p.A2070V	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.A2051V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2070					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AAAGGAGTGGGCCTTCTGGTG	0.582000													6	31					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170597341	170597341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:170597341G>A	ENST00000366756.3	-	4	989	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	219	DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGTGCAGTAGGGCCCTTTCCA	0.672000													15	35					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131172135	131172135	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:131172135C>T	ENST00000357668.1	-	11	1012	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	ASAP1_ENST00000518721.1_Missense_Mutation_p.G329R			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	329	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCAGGTACCCCTTCTTTTCA	0.443000													6	127					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42373290	42373290	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42373290C>T	ENST00000290472.3	-	12	1093	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	333	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGGTCATGGCCCGGGCACCTC	0.592000													7	62					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58018248	58018248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:58018248C>T	ENST00000225577.4	+	13	1192	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P391S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P338S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P368S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	391	AGC-kinase C-terminal.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACGTCAGACACCTGTCGACAG	0.363000													27	48					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74493459	74493459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:74493459C>T	ENST00000437994.2	+	19	2566	c.2135C>T	c.(2134-2136)aCt>aTt	p.T712I	CD109_ENST00000422508.2_Missense_Mutation_p.T635I|CD109_ENST00000287097.5_Missense_Mutation_p.T712I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	712						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGAAGTAACTGTACCTGAT	0.353000													14	58					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151935791	151935791	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151935791C>T	ENST00000355193.2	-	15	2871		c.e15+1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		ATTTTATTTACCACTTTGATG	0.398000													17	98					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326120	63326120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:63326120C>T	ENST00000255695.1	-	3	189	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	44					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CGCACCAGCTCCAGCAATTTC	0.582000													4	92					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	319557	319557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:319557C>T	ENST00000397770.3	-	16	1251	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ITFG3_ENST00000442458.2_3'UTR|RGS11_ENST00000359740.5_Missense_Mutation_p.D401N|ITFG3_ENST00000600536.1_3'UTR|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.D391N			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	412	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TTGTACATGTCAGACTTCAGG	0.642000													23	22					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721950	721950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:721950G>A	ENST00000315082.4	+	13	1159	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	349					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCACGCACAGTCCGCACAGA	0.701000													4	74					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678645	131678645	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131678645G>A	ENST00000259324.5	+	4	2951	c.2428G>A	c.(2428-2430)Gcc>Acc	p.A810T	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A810T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A810T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	810					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CAAGGAGCAGGCCTGAGCGAG	0.677000													8	17					0	0	1	0	0
HOXB6	3216	broad.mit.edu	37	17	46673796	46673796	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46673796C>T	ENST00000484302.2	-	3	1276	c.654G>A	c.(652-654)gaG>gaA	p.E218E	HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB6_ENST00000225648.3_Silent_p.E218E|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA			P17509	HXB6_HUMAN	homeobox B6	218	Poly-Glu.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTTTTTCTTCCTCCTCCTCGG	0.587000													13	200					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42505531	42505531	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:42505531C>T	ENST00000381668.5	-	24	2318	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	ATP8A1_ENST00000264449.10_Splice_Site_p.G681E	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	696					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCAGGAGTGTCCTGTATCCAA	0.274000													4	69					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360295	149360295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149360295C>T	ENST00000286298.4	+	3	1407	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	380						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AACCTAATTCCTAGTGTGGCT	0.373000													6	78					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697118	17697118	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:17697118C>G	ENST00000399080.2	-	1	2588	c.2565G>C	c.(2563-2565)aaG>aaC	p.K855N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	855										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTTTTCTATCTTAGTATCTT	0.289000													246	268					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94777673	94777673	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:94777673G>A	ENST00000453321.3	+	5	604	c.546G>A	c.(544-546)agG>agA	p.R182R	TMEM67_ENST00000409623.3_Silent_p.R101R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	182					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATACCAGCAGGTCCTGTGCAT	0.294000													15	80					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44038774	44038774	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:44038774G>A	ENST00000300289.5	+	1	185	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	13					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CCCGGGTGTGGCGCTGCTTCT	0.726000													8	7					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99809055	99809055	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:99809055G>A	ENST00000450253.2	-	4	1794	c.270C>T	c.(268-270)gaC>gaT	p.D90D	EIF4E_ENST00000505992.1_Silent_p.D90D|EIF4E_ENST00000280892.6_Silent_p.D110D|EIF4E_ENST00000504432.1_Silent_p.D118D	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	90					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AAAGTGAGTAGTCACAGCCAG	0.294000													19	47					0	0	1	0	0
EMC1	23065	broad.mit.edu	37	1	19568862	19568862	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19568862C>T	ENST00000477853.1	-	5	528	c.486G>A	c.(484-486)aaG>aaA	p.K162K	EMC1_ENST00000375199.3_Silent_p.K162K|EMC1_ENST00000375208.3_Silent_p.K140K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GTTCCACCCACTTGAGGTGCC	0.562000													30	49					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156884458	156884458	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156884458C>T	ENST00000338302.3	+	24	3207	c.2982C>T	c.(2980-2982)tcC>tcT	p.S994S	PEAR1_ENST00000292357.7_Silent_p.S994S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	994	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTGGGCTCCCAGCCCCCTC	0.612000													4	65					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149486746	149486746	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149486746C>T	ENST00000378016.2	+	0	4520							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCTGGGGGCCATCCAGCTG	0.652000													5	18					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110034020	110034020	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:110034020G>A	ENST00000369870.3	+	10	1850	c.1835G>A	c.(1834-1836)gGg>gAg	p.G612E	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	612										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGAGCATGGGGCTTAATGGG	0.592000													7	40					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494301	157494301	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:157494301C>T	ENST00000361835.3	-	10	2164	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	FCRL5_ENST00000356953.4_Silent_p.Q669Q|FCRL5_ENST00000368190.3_Silent_p.Q669Q|FCRL5_ENST00000368191.3_Silent_p.Q584Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	669	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity	p.Q669H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCACCACAGCCTGGGCCCTGG	0.527000													18	24					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2110739	2110739	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2110739G>A	ENST00000219476.3	+	11	1674	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	TSC2_ENST00000353929.4_Silent_p.K348K|TSC2_ENST00000568454.1_Silent_p.K359K|TSC2_ENST00000439673.2_Silent_p.K311K|TSC2_ENST00000350773.4_Silent_p.K348K|TSC2_ENST00000401874.2_Silent_p.K348K|TSC2_ENST00000382538.6_Silent_p.K299K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	348	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCATCAAGAAGTATAGGAAGG	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				31	43					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170072917	170072917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:170072917C>T	ENST00000263816.3	-	35	5957	c.5672G>A	c.(5671-5673)gGa>gAa	p.G1891E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1891					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTGTCAGTTCCTTGGTCTGA	0.458000													31	39					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287592	62287592	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62287592G>A	ENST00000378024.4	-	5	14571	c.14297C>T	c.(14296-14298)aCc>aTc	p.T4766I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4766					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGGGTGTTGATGTC	0.522000													98	228					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23542269	23542269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:23542269C>T	ENST00000300619.7	-	4	3717	c.3512G>A	c.(3511-3513)gGc>gAc	p.G1171D	ZNF91_ENST00000397082.2_Missense_Mutation_p.G1139D|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				tcgtgatccgcccgcctcggc	0.478000													11	17					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601868	138601868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:138601868C>T	ENST00000440172.1	-	2	2552	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	KIAA1549_ENST00000422774.1_Missense_Mutation_p.G835D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G785D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	835						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAACACCGTACCAGTGGGAAT	0.547000			O	BRAF	pilocytic astrocytoma								11	45					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104324285	104324285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:104324285G>A	ENST00000389120.3	+	19	2833	c.2743G>A	c.(2743-2745)Gat>Aat	p.D915N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	915					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGATTAAGGATTACAAGGT	0.403000													45	66					0	0	1	0	0
YIPF6	286451	broad.mit.edu	37	X	67731700	67731700	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:67731700C>T	ENST00000462683.1	+	2	811	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	23						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGCAGGCCTTTCAGATAT	0.418000													20	117					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53600840	53600840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:53600840C>T	ENST00000342160.3	-	46	6639	c.6182G>A	c.(6181-6183)gGc>gAc	p.G2061D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G2061D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2061					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGTTTGCTGCCCTTGCCTTT	0.493000													10	78					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57755643	57755643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:57755643C>T	ENST00000360716.3	+	10	1492	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	CCDC135_ENST00000394337.4_Missense_Mutation_p.S424F|CCDC135_ENST00000336825.8_Missense_Mutation_p.S359F			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	424						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATTGAGATCTCCCCGGAAGGT	0.562000													3	30					0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458071	51458071	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:51458071G>A	ENST00000228515.1	-	5	1387	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	364					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ACAGCCAGAGGCTCCTCTAGG	0.602000													43	62					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493055	128493055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:128493055G>A	ENST00000325888.8	+	37	6439	c.6178G>A	c.(6178-6180)Gca>Aca	p.A2060T	FLNC_ENST00000346177.6_Missense_Mutation_p.A2027T|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2060					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATTCCAGGTGGCAGAGTTCAT	0.637000													14	51					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152497626	152497626	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:152497626C>T	ENST00000256001.8	+	3	245	c.111C>T	c.(109-111)atC>atT	p.I37I	ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000377776.3_Silent_p.I37I|ACTR3B_ENST00000537264.1_Intron	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	37					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GTATTGCCATCAGAGAGTCAG	0.368000													22	90					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10415761	10415761	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:10415761G>A	ENST00000274140.5	+	21	2260	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	MARCH6_ENST00000510792.1_Missense_Mutation_p.V408I|MARCH6_ENST00000449913.2_Missense_Mutation_p.V662I|MARCH6_ENST00000503788.1_Missense_Mutation_p.V605I	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	710					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTTCCAGAAGGTTAAAGAGTG	0.418000													7	25					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102240873	102240873	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:102240873G>A	ENST00000343737.5	+	4	488	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	120					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CCCGCAACGGGCAACTGGGTG	0.493000													17	27					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77551985	77551985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:77551985G>A	ENST00000416283.2	+	9	1033	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PHTF2_ENST00000275575.7_Missense_Mutation_p.E299K|PHTF2_ENST00000248550.7_Missense_Mutation_p.E337K|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Missense_Mutation_p.E299K|PHTF2_ENST00000450574.1_Missense_Mutation_p.E303K|PHTF2_ENST00000424760.1_Missense_Mutation_p.E299K|PHTF2_ENST00000415251.2_Missense_Mutation_p.E299K|PHTF2_ENST00000422959.2_Missense_Mutation_p.E303K	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						AGTCTCCAGTGAGGAAGGTCC	0.398000													9	32					0	0	1	0	0
POPDC2	64091	broad.mit.edu	37	3	119373361	119373361	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:119373361C>T	ENST00000493094.1	-	2	1050	c.591G>A	c.(589-591)ggG>ggA	p.G197G	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000264231.3_Silent_p.G197G|POPDC2_ENST00000468801.1_Silent_p.G197G|POPDC2_ENST00000538678.1_Silent_p.G197G			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	197						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTGGAACACCCCCTCCTCAG	0.557000													24	38					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13470508	13470508	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:13470508C>T	ENST00000558378.1	-	2	527	c.5G>A	c.(4-6)gGg>gAg	p.G2E	GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000603223.1_3'UTR|GFOD1_ENST00000379287.3_Intron																							CCTGGAATCCCCCATGCCAGC	0.562000													12	10					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066097	23066097	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:23066097G>A	ENST00000246006.4	-	1	880	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	245					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AACACATCGGGGGCCTTCTCC	0.587000													7	115					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464515	10464515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:10464515C>T	ENST00000382483.3	-	4	7316	c.7093G>A	c.(7093-7095)Ggg>Agg	p.G2365R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2365					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCACTGGCCCCCTGCTCTGGA	0.587000													36	65					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448066	24448066	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24448066C>T	ENST00000270800.1	-	7	992	c.954G>A	c.(952-954)cgG>cgA	p.R318R		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	318						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACAGGCTATGCCGCTGTGGAG	0.627000													21	18					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96697883	96697883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96697883C>T	ENST00000434632.1	-	4	534	c.75G>A	c.(73-75)tgG>tgA	p.W25*	GPAT2_ENST00000377137.3_Nonsense_Mutation_p.W25*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.W25*|GPAT2_ENST00000359548.4_Nonsense_Mutation_p.W25*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	25					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGCCTGACGACCACAGGCTAG	0.572000													8	9					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853384	143853384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:143853384C>T	ENST00000507359.3	+	3	2085	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P332S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATCTGTGGTCCCGTGACACG	0.587000													24	36					0	0	1	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527192	32527192	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:32527192G>A	ENST00000428783.1	+	0	892																											ATGAGGAGCGGCTGCAGCAGT	0.587000													12	22					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251900	47251900	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:47251900G>A	ENST00000296861.2	-	3	1410	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	339					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCTTGTGTAGGTTCTGTCTAG	0.537000													44	93					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544806	73544806	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:73544806C>T	ENST00000224721.6	+	42	5681	c.5676C>T	c.(5674-5676)acC>acT	p.T1892T		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1887	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGCCTCACCTTCAACATCA	0.587000													21	45					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53441760	53441760	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:53441760C>T	ENST00000322213.4	-	3	485	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SMC1A_ENST00000375340.6_Missense_Mutation_p.E120K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	120					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTCTCTAATTCCTCACTGTAC	0.443000													26	59					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041371	38041371	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:38041371G>A	ENST00000599616.1	+	8	586		c.e8-1		SH3BP1_ENST00000357436.4_Splice_Site|SH3BP1_ENST00000495174.1_Splice_Site|SH3BP1_ENST00000442465.2_Splice_Site|SH3BP1_ENST00000336738.5_Splice_Site|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1						signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCCTGCAGACCACTCCCC	0.647000													9	78					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216239998	216239998	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216239998C>T	ENST00000354785.4	-	38	6465	c.6096G>A	c.(6094-6096)ggG>ggA	p.G2032G	FN1_ENST00000346544.3_Silent_p.G1941G|FN1_ENST00000446046.1_Silent_p.G1941G|FN1_ENST00000356005.4_Silent_p.G1851G|FN1_ENST00000432072.2_Silent_p.G1942G|FN1_ENST00000357867.4_Silent_p.G1851G|FN1_ENST00000359671.1_Silent_p.G1941G|FN1_ENST00000443816.1_Silent_p.G1851G|FN1_ENST00000345488.5_Silent_p.G1941G|FN1_ENST00000421182.1_Silent_p.G1851G|FN1_ENST00000357009.2_Silent_p.G1941G|FN1_ENST00000323926.6_Silent_p.G2032G|FN1_ENST00000336916.4_Silent_p.G1941G			P02751	FINC_HUMAN	fibronectin 1	1941	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGAGGAGACCCAGGCTTCT	0.547000													17	32					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	11005727	11005727	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:11005727A>G	ENST00000354666.3	-	3	216	c.133T>C	c.(133-135)Tat>Cat	p.Y45H		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	45					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GAGAGCAGATACATGACAGTA	0.423000													5	43					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49758663	49758663	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49758663C>T	ENST00000327697.6	+	39	4014	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Silent_p.F402F|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1290						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACTGCTTCTTCTGCAAAACCA	0.552000													14	296					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874722	87874722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:87874722C>T	ENST00000261622.4	-	3	769	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	235					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CAGTTTGGTGCCTTCAAATGA	0.512000													7	52					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3396411	3396411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3396411G>A	ENST00000378378.4	+	14	2329	c.1924G>A	c.(1924-1926)Gcg>Acg	p.A642T	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A346T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A354T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A354T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	642	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCCTTCTTCGCGAAGCAAGC	0.647000													12	41					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111284	81111284	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:81111284C>T	ENST00000228644.3	+	1	594	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	148					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTACTATAGCCTGCCGGGACA	0.567000													7	144					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230331	39230331	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:39230331G>A	ENST00000340369.3	-	2	834	c.606C>T	c.(604-606)cgC>cgT	p.R202R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R202R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	202							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGAGCCCAGGCGGTCCAGCG	0.627000													6	82					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13545607	13545607	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:13545607G>A	ENST00000433119.1	+	8	1011	c.536G>A	c.(535-537)gGa>gAa	p.G179E	HDAC11_ENST00000404040.1_Silent_p.R121R|HDAC11_ENST00000522202.1_Silent_p.R170R|HDAC11_ENST00000437379.2_Silent_p.R193R|HDAC11_ENST00000295757.3_Silent_p.R221R|HDAC11_ENST00000404548.1_Missense_Mutation_p.G89E|HDAC11_ENST00000446613.2_Silent_p.R29R|HDAC11_ENST00000402259.1_Silent_p.R55R|HDAC11_ENST00000405025.1_Missense_Mutation_p.G61E|HDAC11_ENST00000402271.1_Silent_p.R142R			Q96DB2	HDA11_HUMAN	histone deacetylase 11	0	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CCATCAGGCGGAAGGTGGAGC	0.552000													10	31					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016682	121016682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:121016682C>T	ENST00000392793.1	+	12	4233	c.3962C>T	c.(3961-3963)aCc>aTc	p.T1321I	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.T1321I			O75443	TECTA_HUMAN	tectorin alpha	1321					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTTAACCCCACCTTCTTCTAT	0.562000													15	124					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38942988	38942988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:38942988G>A	ENST00000357387.3	-	37	5029	c.4999C>T	c.(4999-5001)Ctt>Ttt	p.L1667F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L1691F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1667					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CGACACGGAAGTCTGAATGTG	0.333000													4	33					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38800549	38800549	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:38800549G>A	ENST00000449105.3	-	8	1234	c.895C>T	c.(895-897)Cct>Tct	p.P299S	HNRNPLL_ENST00000409328.1_Missense_Mutation_p.P265S|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.P265S|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.P299S|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.P294S					heterogeneous nuclear ribonucleoprotein L-like																		CTTGGTAAAGGCAATAATGGA	0.358000													24	52					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35826868	35826868	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:35826868G>A	ENST00000237530.6	+	3	587	c.276G>A	c.(274-276)caG>caA	p.Q92Q	RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	92					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACGCTGCCCAGGCCAGCCAGG	0.473000													6	55					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45583390	45583390	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45583390C>T	ENST00000355765.6	+	12	1932	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	588					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTTCAGGCTTCTGAATGCTTA	0.308000													6	33					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241710459	241710459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241710459C>T	ENST00000498729.2	-	15	1516	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	415					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACACGGAGGCCGCGCGGCTG	0.647000													29	35					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42286719	42286719	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42286719C>T	ENST00000302904.4	-	17	2398		c.e17+1		UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCCCTCTCACCTTAACCCAG	0.577000													13	46					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861570	52861570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:52861570C>T	ENST00000343457.3	-	4	1624	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	540						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCCACAGTTTCATAAGTCCAT	0.512000													32	109					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155927545	155927545	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155927545G>A	ENST00000462460.2	-	17	2063	c.1809C>T	c.(1807-1809)gaC>gaT	p.D603D	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.D530D|ARHGEF2_ENST00000368315.4_Silent_p.D559D|ARHGEF2_ENST00000313667.4_Silent_p.D557D|ARHGEF2_ENST00000313695.7_Silent_p.D530D|ARHGEF2_ENST00000361247.4_Silent_p.D558D			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGTGCTCCGGTCATCCCGGG	0.567000													4	53					0	0	1	0	0
FAM102B	284611	broad.mit.edu	37	1	109103131	109103131	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:109103131C>T	ENST00000370035.3	+	1	421	c.81C>T	c.(79-81)gtC>gtT	p.V27V	FAM102B_ENST00000405454.1_Silent_p.V27V	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	27										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCAATGGGGTCCTCTTCTGCA	0.607000													4	45					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70719656	70719656	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70719656C>T	ENST00000338779.6	-	1	313	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	13	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCTGGAAGAGCCCGCCCAGGG	0.781000													4	1					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54795397	54795397	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54795397C>T	ENST00000293379.4	-	23	2620	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	787					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GCCTGAGCCTCCACGGAGAGC	0.562000													5	97					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791865	41791865	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:41791865C>T	ENST00000396930.3	-	18	4416	c.3873G>A	c.(3871-3873)caG>caA	p.Q1291Q	KAT6A_ENST00000406337.1_Silent_p.Q1291Q|KAT6A_ENST00000265713.2_Silent_p.Q1291Q	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1291	Glu-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										cctctaattcctgctgctcct	0.577000													27	42					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72039237	72039237	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:72039237C>T	ENST00000355327.3	+	13	2231	c.2097C>T	c.(2095-2097)cgC>cgT	p.R699R	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.R339R|THSD4_ENST00000261862.6_Silent_p.R699R			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	699	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCAGCACCGCCAGGTTCTGT	0.622000													9	42					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50923747	50923747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:50923747G>A	ENST00000442544.2	+	18	3374	c.2758G>A	c.(2758-2760)Gtc>Atc	p.V920I	DCC_ENST00000581580.1_Missense_Mutation_p.V555I|DCC_ENST00000412726.1_Missense_Mutation_p.V748I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	920	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAATTCTCGGTCATGGTAAC	0.413000													4	22					0	0	1	0	0
OR4F5	79501	broad.mit.edu	37	1	69598	69598	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:69598T>G	ENST00000335137.3	+	1	508	c.508T>G	c.(508-510)Ttt>Gtt	p.F170V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTCGATAGTTTTTATTGTGA	0.463000													121	358					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57485017	57485017	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57485017C>T	ENST00000371100.4	+	11	3332	c.2780C>T	c.(2779-2781)aCc>aTc	p.T927I	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.T270I|GNAS_ENST00000371085.3_Missense_Mutation_p.T284I|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.T269I|GNAS_ENST00000371102.4_Missense_Mutation_p.T913I|GNAS_ENST00000306090.10_Missense_Mutation_p.T270I|GNAS_ENST00000354359.7_Missense_Mutation_p.T285I|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	284					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGCTGCGCACCATCTCTGTG	0.517000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			13	92					0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16562958	16562958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:16562958C>T	ENST00000298943.3	-	1	1046	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	36						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTTGGTGCCCCCGTAGGGGTC	0.716000													3	6					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355230	70355230	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:70355230C>T	ENST00000305107.6	-	3	975	c.929G>A	c.(928-930)gGg>gAg	p.G310E	UGT2B4_ENST00000381096.3_Missense_Mutation_p.G174E|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G310E|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	310					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GACCATCGACCCCAGAGAAAA	0.383000													22	283					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094442	27094442	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27094442C>T	ENST00000324856.7	+	11	3521	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	ARID1A_ENST00000374152.2_Silent_p.D667D|ARID1A_ENST00000457599.2_Silent_p.D1050D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1050	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCTCTGGACCTCTATCGCC	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	61					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119752093	119752093	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:119752093C>T	ENST00000541757.1	+	18	1706	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	MARCO_ENST00000327097.4_Silent_p.V520V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGTGCAGCGTCTGACCCGGAA	0.607000													14	27					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57755671	57755671	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:57755671G>A	ENST00000274289.3	-	1	416	c.116C>T	c.(115-117)cCc>cTc	p.P39L		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	39					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGATTCCTCGGGGGGCTGCGG	0.672000													4	17					0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54932463	54932463	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54932463C>T	ENST00000301194.4	+	3	440	c.318C>T	c.(316-318)ggC>ggT	p.G106G	TTYH1_ENST00000391739.3_Silent_p.G155G|TTYH1_ENST00000376530.3_Silent_p.G106G|TTYH1_ENST00000376531.3_Silent_p.G106G			Q9H313	TTYH1_HUMAN	tweety family member 1	106					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGGCATTGGCATCGGTTTCT	0.647000													5	48					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50191575	50191575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50191575C>T	ENST00000216267.8	-	5	2462	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	BRD1_ENST00000404760.1_Missense_Mutation_p.G659E|BRD1_ENST00000342989.5_Missense_Mutation_p.G254E|BRD1_ENST00000457780.2_Missense_Mutation_p.G659E|BRD1_ENST00000542442.1_Missense_Mutation_p.G347E|BRD1_ENST00000404034.1_Missense_Mutation_p.G659E	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	659					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AACAACACCTCCCTGATCGCG	0.597000													17	37					0	0	1	0	0
PPBP	5473	broad.mit.edu	37	4	74853267	74853267	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:74853267C>T	ENST00000296028.3	-	2	344	c.251G>A	c.(250-252)gGg>gAg	p.G84E		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	84					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGTTCCTTTCCCGATCACTTC	0.438000													28	62					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713838	40713838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:40713838C>T	ENST00000372766.3	+	1	266	c.173C>T	c.(172-174)tCt>tTt	p.S58F	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	58						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGAGGATTTCTTTCTTGATT	0.338000													11	137					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869219	150869219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:150869219G>A	ENST00000370353.3	+	4	800	c.410G>A	c.(409-411)gGt>gAt	p.G137D	PRRG3_ENST00000538575.1_Missense_Mutation_p.G137D			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	137						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTACCGGGGTACTGTGCAT	0.682000													33	61					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142238060	142238060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:142238060G>A	ENST00000389484.3	-	3	1219	c.248C>T	c.(247-249)gCt>gTt	p.A83V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	83	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAAGGCAAGCAATGTGATT	0.428000										TSP Lung(27;0.18)			29	61					0	0	1	0	0
UBL3	5412	broad.mit.edu	37	13	30341782	30341782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:30341782C>T	ENST00000380680.4	-	4	1419	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	92						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		GGTAATGTCTCTCTGGCCACC	0.383000													18	52					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52661545	52661545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:52661545C>T	ENST00000355568.4	-	15	1460	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	441							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTTCTTAGCTCTTGTCTCTGG	0.383000													19	46					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906179	47906179	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:47906179G>A	ENST00000289672.2	-	25	3980	c.3930C>T	c.(3928-3930)ctC>ctT	p.L1310L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1310	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCATCAGCTGGAGGGTAGAAA	0.448000													26	116					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7807807	7807807	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7807807C>T	ENST00000380358.4	+	25	4120	c.4119C>T	c.(4117-4119)gaC>gaT	p.D1373D	CHD3_ENST00000330494.7_Silent_p.D1314D|CHD3_ENST00000358181.4_Silent_p.D1314D	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1314					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAATGTGGACCCTGACTACT	0.507000													6	64					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713007	713007	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:713007G>A	ENST00000382303.1	+	7	2893	c.2241G>A	c.(2239-2241)ggG>ggA	p.G747G	KANK1_ENST00000382297.2_Silent_p.G747G|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G589G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	747					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCATTCTGGGTTTGACAGGC	0.498000													6	31					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31152851	31152851	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31152851C>T	ENST00000268281.4	-	12	1898	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I	PRSS36_ENST00000418068.2_Missense_Mutation_p.V614I|PRSS36_ENST00000569305.1_Missense_Mutation_p.V609I	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	614	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGTGCAGACTCGATCACCA	0.672000													4	69					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116423402	116423402	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116423402C>A	ENST00000397752.3	+	19	3877	c.3677C>A	c.(3676-3678)gCc>gAc	p.A1226D	MET_ENST00000539704.1_Missense_Mutation_p.A96D|MET_ENST00000318493.6_Missense_Mutation_p.A1244D	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1226	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGGTCTTGCCAGAGACATG	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	164					2.0095e-06	2.015e-06	1	1	0
MDGA1	266727	broad.mit.edu	37	6	37612341	37612341	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:37612341G>A	ENST00000297153.7	-	14	3523	c.2345C>T	c.(2344-2346)gCc>gTc	p.A782V	MDGA1_ENST00000434837.3_Missense_Mutation_p.A778V|MDGA1_ENST00000505425.1_Missense_Mutation_p.A778V			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	778	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGGTGAGGGCATTCTGCCG	0.577000													16	15					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754990	167754990	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:167754990G>A	ENST00000239587.5	+	3	1690	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	534					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACTCCTGCAAGACCAAGACCT	0.547000													31	60					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486527	70486527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:70486527G>A	ENST00000433351.2	+	2	176	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000545138.1_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.A50T	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	50					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CACTTCAGCAGCCTATTACCT	0.468000													9	234					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101063377	101063377	+	RNA	SNP	T	T	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101063377T>A	ENST00000313669.7	+	0	470				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GCCAACCTCGTAAGGTAAAGG	0.657000													32	50					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155582290	155582290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155582290C>T	ENST00000245564.2	+	9	919	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.P264S|MSTO1_ENST00000538143.1_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	299					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TCTTGTCTGCCCCTTGTCCTT	0.532000													37	59					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121412777	121412777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:121412777C>T	ENST00000393667.3	-	13	6703	c.6593G>A	c.(6592-6594)aGc>aAc	p.S2198N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2193N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2193					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAAGACATGCTCTTAGTAAA	0.428000													50	117					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42426849	42426849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42426849C>T	ENST00000053867.3	+	3	256	c.194C>T	c.(193-195)gCc>gTc	p.A65V	GRN_ENST00000589265.1_Missense_Mutation_p.A65V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	65					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGTTGATGCCCACTGCTCT	0.592000													34	72					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101165540	101165540	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101165540C>T	ENST00000370508.5	-	5	642	c.615G>A	c.(613-615)caG>caA	p.Q205Q	GOT1_ENST00000543866.1_Silent_p.Q184Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	205					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTGCTTCCACTGCTCCGGAG	0.443000													4	48					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142500334	142500334	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142500334C>T	ENST00000430863.1	-	0	660					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CAGATGGCCACCAGCATGTTG	0.637000													20	29					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	853400	853400	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:853400C>T	ENST00000590230.1	+	4	504	c.363C>T	c.(361-363)ctC>ctT	p.L121L	ELANE_ENST00000263621.1_Silent_p.L121L			P08246	ELNE_HUMAN	elastase, neutrophil expressed	121	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCGTGATTCTCCAGGTgccgc	0.726000													4	10					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190363557	190363557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:190363557C>T	ENST00000412504.2	+	10	1523	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	IL1RAP_ENST00000439062.1_Missense_Mutation_p.T424I|IL1RAP_ENST00000072516.3_Missense_Mutation_p.T424I|IL1RAP_ENST00000317757.3_Missense_Mutation_p.T424I|IL1RAP_ENST00000447382.1_Missense_Mutation_p.T424I|IL1RAP_ENST00000443369.2_Missense_Mutation_p.T424I			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	424	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATTACTGACCCTCCGTGGA	0.398000													15	73					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													6	121					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456828	16456828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16456828C>T	ENST00000358432.5	-	15	2716	c.2562G>A	c.(2560-2562)tgG>tgA	p.W854*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCTCCTGCTGCCAGCACTGCA	0.617000													22	32					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573946	49573946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49573946C>T	ENST00000221444.1	-	2	1100	c.745G>A	c.(745-747)Gct>Act	p.A249T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	249						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGAAGGATAGCCACAAAATCG	0.552000													6	51					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147599233	147599233	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:147599233C>T	ENST00000367481.3	+	8	839	c.731C>T	c.(730-732)gCt>gTt	p.A244V	STXBP5_ENST00000546097.1_Missense_Mutation_p.A244V|STXBP5_ENST00000367480.3_Missense_Mutation_p.A244V|STXBP5_ENST00000321680.6_Missense_Mutation_p.A244V|STXBP5_ENST00000179882.6_5'UTR	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	244					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)		CACTCTGTTGCTTGGCATCAT	0.328000													6	34					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80201408	80201408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:80201408C>T	ENST00000392959.1	-	7	1606	c.995G>A	c.(994-996)gGa>gAa	p.G332E	LCA5_ENST00000369846.4_Missense_Mutation_p.G332E|LCA5_ENST00000467898.3_Missense_Mutation_p.G332E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	332					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGTTTGTACTCCTTTTGTACA	0.328000													7	143					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395841	100395841	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:100395841C>T	ENST00000281806.2	-	3	503	c.189G>A	c.(187-189)agG>agA	p.R63R	MCHR2_ENST00000369212.2_Silent_p.R63R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	63			R -> K (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTTTTTCCTGGATCTGA	0.403000													10	31					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812840	31812840	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:31812840C>T	ENST00000334067.3	+	1	244	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	65						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGACATCCTGCACTTTGGCCA	0.507000													8	102					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96054642	96054642	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:96054642G>A	ENST00000297954.4	+	22	5100	c.5100G>A	c.(5098-5100)gtG>gtA	p.V1700V	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.V1663V|WNK2_ENST00000427277.2_Silent_p.V1275V|WNK2_ENST00000356055.3_Silent_p.V27V|WNK2_ENST00000349097.3_Silent_p.V1312V	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1700					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAAGGCAGGTGGCCTCAGACT	0.577000													38	87					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													7	124					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6412089	6412089	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:6412089G>A	ENST00000342245.4	+	1	429	c.261G>A	c.(259-261)ggG>ggA	p.G87G	SMPD1_ENST00000299397.3_Silent_p.G87G|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.G87G|SMPD1_ENST00000527275.1_Silent_p.G87G	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	85	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TTGGGTGGGGGAACCTCACCT	0.602000													23	20					0	0	1	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691765	12691765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12691765C>T	ENST00000593682.1	-	1	24	c.25G>A	c.(25-27)Gtt>Att	p.V9I	ZNF490_ENST00000311437.6_Missense_Mutation_p.S375N																							TTCACAGGAACTAGATGACTT	0.413000													8	106					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45145117	45145117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:45145117C>T	ENST00000258770.3	-	3	779	c.658G>A	c.(658-660)Gat>Aat	p.D220N	TBRG4_ENST00000494076.1_Missense_Mutation_p.D220N|TBRG4_ENST00000361278.3_Missense_Mutation_p.D220N|TBRG4_ENST00000395655.4_Missense_Mutation_p.D220N	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	220					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GTGTGGGAATCTTCAATTTCT	0.567000													7	199					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64604694	64604694	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:64604694C>T	ENST00000357395.3	+	80	15135	c.3991C>T	c.(3991-3993)Ctg>Ttg	p.L1331L	SYNE2_ENST00000554584.1_Silent_p.L4863L|SYNE2_ENST00000555002.1_Silent_p.L1580L|SYNE2_ENST00000358025.3_Silent_p.L4946L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1331L|SYNE2_ENST00000344113.4_Silent_p.L4946L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4946					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTCAAGCATCTGCTCAGGTC	0.478000													7	27					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42553446	42553446	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42553446G>A	ENST00000389834.4	-	5	671	c.407C>T	c.(406-408)aCc>aTc	p.T136I	TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000307216.6_Splice_Site_p.T136I|TMEM87A_ENST00000448392.1_Splice_Site_p.T75I	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	136						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCCAGAAAAGGTCTATAAAAG	0.318000													3	39					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20556566	20556566	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20556566C>T	ENST00000329697.6	-	10	1362	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	ACSM2B_ENST00000567001.1_Silent_p.K398K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.K319K|ACSM2B_ENST00000565232.1_Silent_p.K398K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	398					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGACGTTGCCCTTATCATCTA	0.502000													3	38					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226109251	226109251	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:226109251C>T	ENST00000343818.6	-	5	782		c.e5+1		RP4-559A3.7_ENST00000432920.2_Splice_Site|PYCR2_ENST00000478402.1_Splice_Site	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2						proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	AAGATACTGACCAGCAAAGCC	0.577000													12	7					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203490	69203490	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69203490T>C	ENST00000344157.4	-	3	594	c.259A>G	c.(259-261)Aca>Gca	p.T87A	YTHDC1_ENST00000579690.1_Missense_Mutation_p.T87A|YTHDC1_ENST00000355665.3_Missense_Mutation_p.T87A	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	87										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TTTCCTTTTGTACTAACTATT	0.373000													38	65					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6172318	6172318	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6172318C>T	ENST00000262450.3	-	35	5121	c.5022G>A	c.(5020-5022)gaG>gaA	p.E1674E	CHD5_ENST00000378021.1_Silent_p.E531E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1674					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGGCTCCTTCTCCTCAGCCT	0.512000													48	26					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741786	37741786	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:37741786C>T	ENST00000400485.1	+	15	2196	c.2120C>T	c.(2119-2121)aCt>aTt	p.T707I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	707					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTCCTTGTCACTGAGGAAAAA	0.378000													19	51					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104102614	104102614	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:104102614C>T	ENST00000265148.3	-	12	1053		c.e12-1		CENPE_ENST00000380026.3_Splice_Site|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.?(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TACTGGCAAACTGGAAAAAAA	0.269000													16	30					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15580053	15580053	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15580053G>A	ENST00000427411.1	-	19	2609	c.2393C>T	c.(2392-2394)aCt>aTt	p.T798I	ACE2_ENST00000252519.3_Missense_Mutation_p.T798I|ACE2_ENST00000471548.1_5'UTR	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	798					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AACATCATCAGTGTTTTGGAA	0.318000													5	91					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68383072	68383072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:68383072C>T	ENST00000361478.1	-	2	387	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	PJA1_ENST00000374571.4_Intron|PJA1_ENST00000374584.3_Missense_Mutation_p.E4K|PJA1_ENST00000374583.1_Missense_Mutation_p.E4K|PJA1_ENST00000477231.1_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	4							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTGCTAGATTCCTGACCCATC	0.512000													28	56					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61899124	61899124	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61899124C>T	ENST00000427159.2	-	15	2200	c.1555G>A	c.(1555-1557)Gca>Aca	p.A519T		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	519					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGCAGTACTGCCTTTTCCTCC	0.522000													5	282					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000423058.2	-	17	3519	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413000													36	70					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734348	28734348	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:28734348G>A	ENST00000550043.1	+	0	753																											TTTTGATGAAGAACTGGAGTC	0.483000													5	46					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956622	42956622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:42956622G>A	ENST00000541208.1	+	5	1426	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	ZNF662_ENST00000328199.6_Missense_Mutation_p.V379I|ZNF662_ENST00000440367.2_Missense_Mutation_p.V353I|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCACCAGAGGGTCCACACTGG	0.478000													33	32					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27233406	27233406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:27233406C>T	ENST00000332830.4	-	15	3620	c.2810G>A	c.(2809-2811)aGt>aAt	p.S937N	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	937					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCGGCCCCACTGCCCCCAAT	0.607000													15	35					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460731	66460731	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:66460731G>A	ENST00000404260.3	+	29	6041	c.5733G>A	c.(5731-5733)agG>agA	p.R1911R	MAST4_ENST00000261569.7_Silent_p.R1714R|MAST4_ENST00000403666.1_Silent_p.R1719R|MAST4_ENST00000405643.1_Silent_p.R1729R|MAST4_ENST00000403625.2_Silent_p.R1908R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1911						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTACTGCCAGGAGCCCTGGAA	0.587000													5	37					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133511394	133511394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:133511394G>A	ENST00000319725.9	+	18	1666	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	531					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGGTCACGCCGCCAGCGCTGC	0.607000													25	46					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69126999	69126999	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:69126999G>A	ENST00000361055.4	-	3	187	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	UBA3_ENST00000415609.2_Missense_Mutation_p.L31F|UBA3_ENST00000349511.4_Missense_Mutation_p.L31F|UBA3_ENST00000540295.1_5'UTR	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	45					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GATCGCTCGAGGAACTTCTTT	0.448000													112	128					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185521	27185521	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:27185521C>T	ENST00000222728.3	-	2	482	c.458G>A	c.(457-459)aGc>aAc	p.S153N	HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'UTR|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCGCCCATGGCTCCCATACAC	0.662000													8	134					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33941798	33941798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:33941798G>A	ENST00000379238.1	-	16	1895	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	UBAP2_ENST00000379225.1_Missense_Mutation_p.S226F|UBAP2_ENST00000379239.4_Missense_Mutation_p.S326F|UBAP2_ENST00000418786.2_Missense_Mutation_p.S540F|UBAP2_ENST00000539807.1_Missense_Mutation_p.S348F|UBAP2_ENST00000449054.1_Missense_Mutation_p.S593F|UBAP2_ENST00000360802.1_Missense_Mutation_p.S593F			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	593										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGTAATGACGGAAGTTGTATA	0.393000													28	66					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48152121	48152121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:48152121G>A	ENST00000418331.2	+	8	1820	c.1468G>A	c.(1468-1470)Gga>Aga	p.G490R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G490R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	490	Fibronectin type-III 5.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CACACAGGAGGGAGCTGGCAA	0.463000													28	46					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243649	34243649	+	Missense_Mutation	SNP	C	C	T	rs145228000		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:34243649C>T	ENST00000346562.2	+	7	937	c.863C>T	c.(862-864)cCc>cTc	p.P288L	NPAS3_ENST00000548645.1_Missense_Mutation_p.P290L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P325L|NPAS3_ENST00000356141.4_Missense_Mutation_p.P320L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P307L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCCTTGCCTCCCCCTACGATC	0.493000													9	163					0	0	1	0	0
FTO	79068	broad.mit.edu	37	16	53922781	53922781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:53922781G>A	ENST00000471389.1	+	7	1379	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	FTO_ENST00000460382.1_5'UTR|FTO_ENST00000394647.3_Missense_Mutation_p.G90D|FTO_ENST00000431610.2_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	386					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGTTTCAAGGCAATCGATAC	0.483000													10	72					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33887073	33887073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:33887073G>A	ENST00000307296.3	+	12	2011	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.G550D			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	545	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						ACCATGCAGGGCAGTGAGGTA	0.433000													7	65					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79556127	79556127	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:79556127C>T	ENST00000374747.5	-	12	1253	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	NPLOC4_ENST00000539314.1_Missense_Mutation_p.G214D|NPLOC4_ENST00000331134.6_Missense_Mutation_p.G375D			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	375					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTTGTCAGGACCACCTGCAAG	0.473000													13	22					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69346812	69346812	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:69346812C>T	ENST00000193403.6	-	18	2530	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D	ACTN1_ENST00000438964.2_Missense_Mutation_p.G716D|ACTN1_ENST00000394419.4_Missense_Mutation_p.G716D|ACTN1_ENST00000538545.2_Missense_Mutation_p.G716D|ACTN1_ENST00000376839.3_Missense_Mutation_p.G651D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	716	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGCTCCCAGCCCACACGGAT	0.627000													12	65					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55992959	55992959	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55992959C>T	ENST00000598519.1	+	3	952	c.399C>T	c.(397-399)tcC>tcT	p.S133S	ZNF628_ENST00000391718.2_Silent_p.S129S			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	129						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGTGGTCGTCCCACTACCAGT	0.662000													10	28					0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46818562	46818562	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46818562C>T	ENST00000474844.1	+	4	1265	c.615C>T	c.(613-615)ctC>ctT	p.L205L	NSUN4_ENST00000537428.1_Silent_p.L156L|NSUN4_ENST00000536062.1_Silent_p.L156L|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	205							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CCAATGATCTCTCCCCGTCCC	0.483000													38	70					0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	207013341	207013341	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207013341G>A	ENST00000270218.6	+	5	1296	c.357G>A	c.(355-357)cgG>cgA	p.R119R	IL19_ENST00000340758.2_Silent_p.R157R	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	119					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AAACTCTGCGGCAATGTGTGA	0.527000													19	98					0	0	1	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383295	39383295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39383295G>A	ENST00000377721.3	+	1	396	c.389G>A	c.(388-390)gGt>gAt	p.G130D	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.G114D	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	130	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCTGCCTGGTTGCCTAAAC	0.627000													76	115					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403182	100403182	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100403182G>A	ENST00000358173.3	-	15	3087	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	EPHB4_ENST00000360620.3_Silent_p.A873A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	873	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTTGTCCAGGGCGCTGACCA	0.662000													14	143					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46834415	46834415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46834415C>T	ENST00000339613.2	+	13	1802	c.1547C>T	c.(1546-1548)aCc>aTc	p.T516I	HIF3A_ENST00000300862.3_Missense_Mutation_p.T570I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T503I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T572I|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Missense_Mutation_p.T521I|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T503I			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	572	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCCTCCAGGACCCTGGCCCAG	0.557000													16	24					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39579107	39579107	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39579107G>A	ENST00000225550.3	-	3	654	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	219	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCTTGGCCAGGGTCGCGTCA	0.652000													9	59					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4788789	4788789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4788789G>A	ENST00000355280.6	+	7	716	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	MINK1_ENST00000347992.7_Missense_Mutation_p.V174M|MINK1_ENST00000453408.3_Missense_Mutation_p.V174M	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	174	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGATTTTGGGGTGAGTGCTCA	0.587000													23	56					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964346	69964346	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69964346C>T	ENST00000305231.7	+	2	856	c.810C>T	c.(808-810)ctC>ctT	p.L270L	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Silent_p.L270L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	270					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATATCCACTCTTACCAAATG	0.408000													42	169					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82959022	82959022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:82959022C>T	ENST00000260047.6	+	11	2152	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	ANKRD42_ENST00000393392.2_Silent_p.N383N|ANKRD42_ENST00000531895.1_Nonsense_Mutation_p.R454*|ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Nonsense_Mutation_p.R454*			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGTATGAACGACTACGTAG	0.343000													4	21					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768786	57768786	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57768786C>T	ENST00000371030.2	+	1	2712	c.2712C>T	c.(2710-2712)acC>acT	p.T904T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	904						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAAGGCTACCCCACTGCATC	0.647000													13	32					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029650	76029650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:76029650C>T	ENST00000275560.3	-	4	775	c.428G>A	c.(427-429)gGc>gAc	p.G143D	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	143	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATTGTGGACGCCCCAGCCGCG	0.657000													5	74					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498473	75498473	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75498473G>A	ENST00000360639.2	+	2	404	c.84G>A	c.(82-84)gaG>gaA	p.E28E	C15orf39_ENST00000394987.4_Silent_p.E28E|C15orf39_ENST00000567617.1_Silent_p.E28E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	28										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCGGGCTCGAGCACAGCCTGC	0.607000													14	22					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131089	72131089	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:72131089G>A	ENST00000265381.4	-	2	1260	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	346					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						TGGCCAGCGAGATGGCATCGC	0.706000													8	66					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100963673	100963673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100963673C>T	ENST00000336454.3	+	14	1686	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.T444I|CDC14A_ENST00000544534.1_Missense_Mutation_p.T444I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T386I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	444					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGCAGTTACTTTGAAGACA	0.403000													42	70					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442181	51442181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:51442181G>A	ENST00000418425.2	+	1	61	c.42G>A	c.(40-42)tgG>tgA	p.W14*	LETMD1_ENST00000552739.1_Nonsense_Mutation_p.W14*|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Nonsense_Mutation_p.W14*|LETMD1_ENST00000262055.4_Nonsense_Mutation_p.W14*|LETMD1_ENST00000380123.2_Nonsense_Mutation_p.W14*|LETMD1_ENST00000550929.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	14	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGGCTGTGTGGGGCTCGGCAG	0.622000											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	114					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229832	39229832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:39229832G>A	ENST00000340369.3	-	2	1333	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P369S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	369							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCTCCTTGGGTGGGGCCTCT	0.577000													64	116					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556792	15556792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:15556792C>T	ENST00000424120.1	+	20	2838	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S	CC2D2A_ENST00000503292.1_Missense_Mutation_p.P862S|CC2D2A_ENST00000413206.1_Missense_Mutation_p.P862S|CC2D2A_ENST00000389652.5_Missense_Mutation_p.P813S			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	862					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CAAGCTCGACCCAAATGACCC	0.468000													24	26					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159596	94159596	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:94159596C>T	ENST00000282020.4	+	8	1458	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	GRID2_ENST00000510992.1_Silent_p.I305I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	400					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTTTGAAATCCTTGGAACCA	0.418000													29	92					0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863733	74863733	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:74863733C>T	ENST00000296027.4	-	3	519	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	108					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AAGTACCCGTCCAAAATTTTC	0.393000													10	102					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67039236	67039236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67039236G>A	ENST00000540947.2	+	11	1439	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	CES4A_ENST00000540579.1_Missense_Mutation_p.D321N|CES4A_ENST00000326686.5_Missense_Mutation_p.D419N|CES4A_ENST00000535696.1_Missense_Mutation_p.D325N|CES4A_ENST00000338718.4_Missense_Mutation_p.D442N|CES4A_ENST00000398354.1_Missense_Mutation_p.D392N|CES4A_ENST00000541479.1_Missense_Mutation_p.D415N	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	419						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCGTATGATGGACATAGTTCA	0.527000													24	55					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499550	62499550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:62499550C>T	ENST00000225792.5	-	6	1048	c.647G>A	c.(646-648)aGa>aAa	p.R216K	DDX5_ENST00000578804.1_Missense_Mutation_p.R216K|DDX5_ENST00000450599.2_Missense_Mutation_p.R137K	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	216	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTACATACCTCTCTCCAAATC	0.383000			T	ETV4	prostate								6	94					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697039	169697039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:169697039G>A	ENST00000333360.7	-	9	1448	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.P312S|SELE_ENST00000367780.4_Missense_Mutation_p.P312S|SELE_ENST00000367776.1_Missense_Mutation_p.P374S|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P374S|SELE_ENST00000367779.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	437	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AAACCCTTCGGGGGCTGGTGG	0.493000													35	66					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191362285	191362285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:191362285C>T	ENST00000392328.1	+	7	2336	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	MFSD6_ENST00000535751.1_Missense_Mutation_p.P133L|MFSD6_ENST00000281416.7_Missense_Mutation_p.P671L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	671					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGACTTCCACCCAAGAAAACT	0.502000													36	67					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108098602	108098602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:108098602G>A	ENST00000278616.4	+	3	557	c.172G>A	c.(172-174)Gat>Aat	p.D58N	ATM_ENST00000452508.2_Missense_Mutation_p.D58N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	58					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTGAATTGGGATGCTGTTTT	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			36	68					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85771163	85771163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:85771163G>A	ENST00000322366.6	-	5	603	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P66S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	66						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTATTCGGCGGAGCATTTCCA	0.348000													6	122					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158589981	158589981	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:158589981C>T	ENST00000368147.4	-	44	6576	c.6396G>A	c.(6394-6396)aaG>aaA	p.K2132K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGATAGGTGCTTCCAGGTCC	0.438000													6	114					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514280	113514280	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113514280G>A	ENST00000541405.1	-	4	696	c.173C>T	c.(172-174)cCt>cTt	p.P58L	CKAP2L_ENST00000302450.6_Missense_Mutation_p.P223L			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	223						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGCTTGTTTAGGAACTAAACT	0.368000													44	67					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749049	30749049	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30749049C>T	ENST00000262518.4	+	34	8073	c.7688C>T	c.(7687-7689)tCc>tTc	p.S2563F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2501F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2405F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2563	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCCAGAGTCCCTGGAGCTG	0.567000													25	52					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119061081	119061081	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:119061081C>T	ENST00000503566.2	-	6	560	c.561G>A	c.(559-561)agG>agA	p.R187R	CCDC153_ENST00000415318.1_Silent_p.R187R			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	187										lung(3)|stomach(1)	4						GCTCCTTGTGCCTGGCGTGAA	0.562000													4	95					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887543	131887543	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:131887543C>T	ENST00000359827.3	-	12	3410	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	PLXNA4_ENST00000321063.4_Silent_p.K816K			Q9HCM2	PLXA4_HUMAN	plexin A4	816	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGGTCAGCCTTGAGGCACA	0.647000													5	32					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101606830	101606830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101606830C>T	ENST00000370449.4	+	30	4372	c.4259C>T	c.(4258-4260)gCc>gTc	p.A1420V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1420	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTTTTGTGGCCAGCCTGCAA	0.522000													17	127					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766407	20766407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:20766407G>A	ENST00000359062.3	+	3	1082	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	348					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGTGGACATCGCCGTCATGGG	0.517000													4	82					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997221	40997221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40997221C>T	ENST00000253799.3	+	1	605	c.578C>T	c.(577-579)tCc>tTc	p.S193F	AOC2_ENST00000452774.2_Missense_Mutation_p.S193F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	193					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCCTGTCGTCCACCTTCAAC	0.592000													4	107					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610453	81610453	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:81610453C>T	ENST00000541158.2	+	11	2373	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A684V			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	684					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCACCAAGGCCTTCCAGAGG	0.488000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						8	90					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536915	87536915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87536915G>A	ENST00000265728.1	+	12	1966	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	488					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TAACATACAGGCATCTGTACA	0.348000													29	82					0	0	1	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591095	234591095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:234591095G>A	ENST00000373426.3	+	1	512	c.512G>A	c.(511-513)gGa>gAa	p.G171E	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTCGCCAGGGGAATATTTTGC	0.473000													74	154					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13215863	13215863	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13215863G>A	ENST00000592062.1	-	18	2436	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	TRMT1_ENST00000437766.1_Silent_p.Y622Y|TRMT1_ENST00000357720.4_Silent_p.Y622Y|TRMT1_ENST00000221504.8_Silent_p.Y593Y			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	622							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCTGTGGGAGTAGCAGCACT	0.667000											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	98					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213297	21213297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:21213297C>T	ENST00000574002.1	-	13	1817	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.W445*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.W445*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	445	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAAAATCCGTCCAGAGAGCAT	0.363000													7	96					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100537626	100537626	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:100537626G>A	ENST00000268070.4	-	19	2865	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	920	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGACAGGCAGTCCTGGCCTT	0.667000													3	42					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679415	100679415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100679415C>T	ENST00000306151.4	+	3	4782	c.4718C>T	c.(4717-4719)aCt>aTt	p.T1573I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1573	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAAGCACTCCACTAACA	0.493000													24	447					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103002421	103002421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:103002421G>A	ENST00000262457.2	+	6	880	c.695G>A	c.(694-696)gGg>gAg	p.G232E	INVS_ENST00000541287.1_Missense_Mutation_p.G136E|INVS_ENST00000262456.2_Missense_Mutation_p.G232E	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	232					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGCTGATGGGAATGTGACC	0.448000													32	65					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422815	1422815	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:1422815G>A	ENST00000381524.3	+	11	1132		c.e11-1		CSF2RA_ENST00000432318.2_Splice_Site|CSF2RA_ENST00000381509.3_Splice_Site|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Splice_Site|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000501036.2_Splice_Site|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000417535.2_Splice_Site|CSF2RA_ENST00000498153.1_Splice_Site			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)							extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTCTCTCCAGGTTCTGACGA	0.488000													5	232					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857715	9857715	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:9857715G>A	ENST00000396573.2	-	14	3995	c.3686C>T	c.(3685-3687)aCc>aTc	p.T1229I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1072I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1229I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1229I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1229I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1229I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1229					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGACCTCATGGTGAAGTGGCC	0.577000													5	159					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55194030	55194030	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:55194030G>A	ENST00000371281.3	+	6	693	c.606G>A	c.(604-606)caG>caA	p.Q202Q	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	202							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GAATTGAACAGAGGGATGTGA	0.413000													10	20					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43522989	43522989	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:43522989G>A	ENST00000430334.3	-	9	2817	c.2684C>T	c.(2683-2685)gCc>gTc	p.A895V	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A806V|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	895					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGGGCTGGGCCCGGATCTG	0.597000													4	67					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54635582	54635582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54635582G>A	ENST00000209875.4	-	5	669	c.533C>T	c.(532-534)cCt>cTt	p.P178L	CBX5_ENST00000439541.2_Missense_Mutation_p.P178L|CBX5_ENST00000550411.1_Missense_Mutation_p.P178L	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	178	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CGCATCCTCAGGATATGCATG	0.413000													5	168					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30682868	30682868	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30682868C>T	ENST00000376406.3	-	2	732	c.85G>A	c.(85-87)Gag>Aag	p.E29K	MDC1_ENST00000376405.2_Missense_Mutation_p.E29K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	29	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTACTGGCTCCACGTTACAC	0.458000								Other conserved DNA damage response genes					5	61					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15883483	15883483	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:15883483C>T	ENST00000277632.3	-	4	571	c.351G>A	c.(349-351)gaG>gaA	p.E117E	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	117					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TAGCAGTTTCCTCAGTTGTCT	0.378000													14	88					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57892718	57892718	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:57892718C>T	ENST00000262644.4	-	2	684	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	142						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				ACAAGATAACCTCCTGATCAG	0.388000													4	52					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44800150	44800150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44800150G>A	ENST00000309315.4	+	9	1321	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D374N|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D368N|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D342N|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D400N	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	400	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTCTTGCCTGATCTCAAGCC	0.592000													21	141					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205901853	205901853	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:205901853C>T	ENST00000367135.3	-	4	466	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SLC26A9_ENST00000340781.4_Missense_Mutation_p.G118E|SLC26A9_ENST00000367134.2_Missense_Mutation_p.G118E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	118						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTGAACACCCCCCAGGAAGAA	0.607000													12	23					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675191	21675191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:21675191C>T	ENST00000379499.2	-	1	1257	c.716G>A	c.(715-717)gGc>gAc	p.G239D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	239										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GAGGCCAGAGCCCGAGTACAC	0.677000													7	11					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62433409	62433409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62433409C>T	ENST00000532971.1	+	2	315	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	20						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GACGTGCCGCCCCTTTGCGGG	0.617000													5	53					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like.					extracellular region		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642000													4	69					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95167057	95167057	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:95167057G>A	ENST00000325885.5	+	5	1338	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	423	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGAGCCAGAGGGAATTATTTA	0.393000													16	74					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16981106	16981106	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:16981106G>A	ENST00000377833.4	-	38	5654	c.5589C>T	c.(5587-5589)gtC>gtT	p.V1863V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1863	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGAGAGGCGACTTTCCCAT	0.408000													6	89					0	0	1	0	0
TMEM91	641649	broad.mit.edu	37	19	41888731	41888731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:41888731C>T	ENST00000539627.1	+	3	586	c.265C>T	c.(265-267)Cca>Tca	p.P89S	TMEM91_ENST00000544232.1_Missense_Mutation_p.P89S|TMEM91_ENST00000392002.2_Missense_Mutation_p.P89S|TMEM91_ENST00000356385.4_Missense_Mutation_p.P89S|TMEM91_ENST00000542945.1_Missense_Mutation_p.P89S|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000447302.2_Missense_Mutation_p.P89S|TMEM91_ENST00000604123.1_Missense_Mutation_p.P146S|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000436170.2_Missense_Mutation_p.P89S|TMEM91_ENST00000413014.2_Missense_Mutation_p.P89S					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						CCGTCTTTCACCATTTCTACC	0.572000													33	505					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895834	77895834	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:77895834G>A	ENST00000262198.4	+	4	2993	c.2538G>A	c.(2536-2538)ggG>ggA	p.G846G		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	846					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCCTGGCTGGGATACACTCCA	0.567000													4	23					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364467	10364467	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:10364467C>T	ENST00000377093.4	+	21	3377	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S1075F|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCATTAAACTCCCACAGTGGT	0.502000													42	77					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472808	39472808	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:39472808G>A	ENST00000518318.2	+	7	1201	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I	POU6F2_ENST00000559001.1_Missense_Mutation_p.V332I|POU6F2_ENST00000403058.1_Missense_Mutation_p.V387I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	387	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCGCCACAGTCATTGGGAA	0.612000													24	73					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50684260	50684260	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:50684260C>T	ENST00000355832.5	-	12	2461		c.e12+1		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6						base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGCTGACCTGCATCTCT	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)					6	30					0	0	1	0	0
GDPD3	79153	broad.mit.edu	37	16	30119720	30119720	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30119720G>A	ENST00000406256.3	-	8	1118	c.741C>T	c.(739-741)aaC>aaT	p.N247N	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	247	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CCAATAACTGGTTCAGGCAAG	0.582000													13	152					0	0	1	0	0
MRPS24	64951	broad.mit.edu	37	7	43906557	43906557	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:43906557G>A	ENST00000317534.5	-	4	306	c.245C>T	c.(244-246)gCc>gTc	p.A82V	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	82					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCGCTCTGCGGCATGGTCCTC	0.557000													22	80					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136261	64136261	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:64136261C>T	ENST00000395254.3	+	2	589	c.309C>T	c.(307-309)agC>agT	p.S103S	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Silent_p.S103S|ZNF365_ENST00000410046.3_Silent_p.S103S	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACTTGTACAGCATTTCACATG	0.498000													15	53					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109444476	109444476	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:109444476C>T	ENST00000406462.2	+	9	1635	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	GPSM2_ENST00000264126.3_Missense_Mutation_p.L288F|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTGTTACAGTCTTGGAAATAC	0.358000													4	51					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106464648	106464648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:106464648G>A	ENST00000261402.2	-	6	2115	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	246	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCATAAACAAGAGTGTAAAGC	0.527000													3	41					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499479	141499479	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:141499479G>A	ENST00000264952.2	+	2	1013	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	292	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACATGAGCCGGGTGATCTTTT	0.552000													6	41					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530429	80530429	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:80530429G>A	ENST00000295057.3	-	2	1172	c.516C>T	c.(514-516)gcC>gcT	p.A172A	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A172A|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	172						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAAACTGGATGGCGTTGGCCC	0.612000										HNSCC(69;0.2)			5	53					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	86947682	86947682	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:86947682C>T	ENST00000340353.7	+	5	601	c.399C>T	c.(397-399)gtC>gtT	p.V133V	TMEM135_ENST00000535167.1_Silent_p.V16V|TMEM135_ENST00000532959.1_Silent_p.V26V|TMEM135_ENST00000305494.5_Silent_p.V155V	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	155						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTTACAGGTCCTTTTGTTTT	0.318000													5	83					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967994	87967994	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:87967994C>T	ENST00000369577.3	+	8	4690	c.4647C>T	c.(4645-4647)aaC>aaT	p.N1549N	ZNF292_ENST00000339907.4_Silent_p.N1544N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCTGACCAACCAGAATAGGA	0.448000													8	16					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753637	207753637	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207753637G>A	ENST00000367049.4	+	30	4989	c.4989G>A	c.(4987-4989)caG>caA	p.Q1663Q	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.Q1213Q|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.Q1213Q|CR1_ENST00000367052.1_Silent_p.Q1213Q|CR1_ENST00000367053.1_Silent_p.Q1213Q	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1213	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAAGCCATCAGGACAACTTTT	0.542000													4	144					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21837446	21837446	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21837446C>T	ENST00000216297.2	-	6	1037	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	233					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGGGTCTGCCCCAGCAAGGT	0.423000													10	94					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320674	78320674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78320674G>A	ENST00000582970.1	+	29	8682	c.8539G>A	c.(8539-8541)Ggg>Agg	p.G2847R	RNF213_ENST00000508628.2_Missense_Mutation_p.G2896R|RNF213_ENST00000336301.6_Missense_Mutation_p.G920R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATGAGGTGGGGCTGGCGGA	0.607000													3	30					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54871561	54871561	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:54871561C>T	ENST00000333896.5	+	19	4453	c.4068C>T	c.(4066-4068)acC>acT	p.T1356T	SPTBN1_ENST00000356805.4_Silent_p.T1369T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1369					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AATCCACTACCCAGACAAAGG	0.493000													15	78					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241835023	241835023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241835023G>A	ENST00000388934.4	-	1	550	c.392C>T	c.(391-393)gCc>gTc	p.A131V		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	131										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CTCCGAGGAGGCAGTGAAGGT	0.627000													12	20					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134679355	134679355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:134679355G>A	ENST00000370752.4	+	3	531	c.197G>A	c.(196-198)tGg>tAg	p.W66*	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	66	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCTGGTTGGAAGGAAAAT	0.348000													6	83					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18327860	18327860	+	Missense_Mutation	SNP	C	C	T	rs139112919		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:18327860C>T	ENST00000396253.3	-	6	766	c.304G>A	c.(304-306)Gat>Aat	p.D102N	HPS5_ENST00000531848.1_Missense_Mutation_p.D102N|HPS5_ENST00000438420.2_Missense_Mutation_p.D102N|HPS5_ENST00000349215.3_Missense_Mutation_p.D216N	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	216						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATTCTCCATCTCTTTCCTTG	0.413000									Hermansky-Pudlak syndrome				19	12					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023485	52023485	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52023485C>T	ENST00000346477.3	-	7	1233	c.1165G>A	c.(1165-1167)Ggc>Agc	p.G389S	SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.G405S|SIGLEC6_ENST00000359982.4_Silent_p.Q388Q|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R335K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G353S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R346K|CTD-3073N11.9_ENST00000598220.1_RNA	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	405					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GAAACTATGCCTGTCTGGAAC	0.507000													6	168					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351118	131351118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:131351118C>T	ENST00000342983.2	-	2	925	c.179G>A	c.(178-180)gGa>gAa	p.G60E	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.G60E	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	60					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CTGCTCAGTTCCTGCGGTGTC	0.458000													58	101					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83277817	83277817	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83277817G>A	ENST00000313899.7	-	7	1150	c.873C>T	c.(871-873)aaC>aaT	p.N291N	HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000541060.1_Silent_p.N137N|HNRNPD_ENST00000352301.4_Silent_p.N272N|HNRNPD_ENST00000508119.1_Intron|HNRNPD_ENST00000543098.1_Silent_p.N239N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	291	Gly-rich.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TATATCCCTGGTTCCAGTTTT	0.398000													27	71					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62568073	62568073	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:62568073C>T	ENST00000262435.9	-	10	1046	c.859G>A	c.(859-861)Gat>Aat	p.D287N	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	287					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTGCTAAGATCCCTGCAAAAA	0.403000													28	26					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114691897	114691897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:114691897C>T	ENST00000374279.3	+	6	1126	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	226					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	AGCAGGAGGACTTATAGCTTT	0.378000													4	127					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32228272	32228272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:32228272G>A	ENST00000492345.1	+	12	2048	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	CBFA2T2_ENST00000346541.3_Missense_Mutation_p.D484N|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.D494N|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.D32N|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.D484N|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.D455N|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.D475N			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	484						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACCATAGCGGATGTCAAGCG	0.572000													15	29					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189918194	189918194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:189918194C>T	ENST00000374866.3	-	38	2783	c.2509G>A	c.(2509-2511)Ggt>Agt	p.G837S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	837					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTTTCACCTCGAGAACCC	0.348000													13	35					0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	91005445	91005445	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91005445G>A	ENST00000336233.5	-	3	539	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.H73Y			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	73					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTGTCAGAATGGTTCTTCCTC	0.373000													5	123					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17836453	17836453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:17836453G>A	ENST00000409389.1	-	25	2828	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	SNX13_ENST00000428135.3_Missense_Mutation_p.P875S|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	886					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTCACCTGGCATAATTGCA	0.353000													19	83					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2427943	2427943	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:2427943C>T	ENST00000452833.1	-	21	3213	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K	TRPM5_ENST00000533060.1_Missense_Mutation_p.E1067K|TRPM5_ENST00000528453.1_Missense_Mutation_p.E1067K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E1067K|AC124057.5_ENST00000433035.1_RNA			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1067						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCCGCTTCTCCATCTTGCTC	0.617000													4	46					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58112165	58112165	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:58112165G>A	ENST00000315970.7	+	11	1412	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	OS9_ENST00000389142.5_Intron|OS9_ENST00000389146.6_Intron|OS9_ENST00000257966.8_Silent_p.K458K|OS9_ENST00000439210.2_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Silent_p.K251K|OS9_ENST00000551035.1_Silent_p.K425K|OS9_ENST00000552285.1_Silent_p.K457K|OS9_ENST00000435406.2_Silent_p.K405K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	457					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGGAGGTGAAGGCTGGCATGG	0.577000													18	48					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	95					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490876	141490876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141490876C>T	ENST00000247883.4	+	1	860	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	239					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CATGGCCAGCCCCTTCTCCAT	0.512000													8	193					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101577157	101577157	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101577157G>A	ENST00000370449.4	+	17	2300	c.2187G>A	c.(2185-2187)agG>agA	p.R729R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	729	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATGAAAAGAGGTACCAGCAAG	0.483000													9	33					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870387	35870387	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35870387G>A	ENST00000377981.2	-	1	74	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTTCTGTTGAGCGGCTCCA	0.557000													3	34					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246860	80246860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:80246860C>T	ENST00000286794.4	-	1	344	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	58	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTTGGCCAGAACATAG	0.532000													8	143					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207737348	207737348	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207737348C>T	ENST00000367049.4	+	22	3726	c.3726C>T	c.(3724-3726)ccC>ccT	p.P1242P	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.P792P|CR1_ENST00000367051.1_Silent_p.P792P|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Silent_p.P792P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	792	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGCACACCCCAGGGAGACT	0.547000													9	55					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70123860	70123860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:70123860C>T	ENST00000388768.2	-	14	1767	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	RUFY2_ENST00000602465.1_Missense_Mutation_p.E446K|RUFY2_ENST00000265865.3_Missense_Mutation_p.E36K	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	495						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAGTCAGTTTCCAGTTGCACC	0.383000													7	118					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62559961	62559961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62559961G>A	ENST00000532297.1	-	22	2476	c.1847C>T	c.(1846-1848)gCa>gTa	p.A616V	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.A616V			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	616	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCATGAATGCCACTTCTGG	0.527000													36	241					0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54947317	54947317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54947317C>T	ENST00000376531.3	+	12	1342	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000391739.3_3'UTR|TTYH1_ENST00000376530.3_3'UTR|TTYH1_ENST00000301194.4_3'UTR	NM_001005367.2	NP_001005367.1	Q9H313	TTYH1_HUMAN	tweety family member 1	0					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGAGCCCCTCCTCCCGGCTGG	0.662000													9	141					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154490490	154490490	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:154490490C>T	ENST00000369454.3	-	2	540	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	80					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTACTGAGTTCCTGTAGTAGG	0.438000													79	165					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676444	54676444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54676444G>A	ENST00000546500.1	+	6	1286	c.671G>A	c.(670-672)gGt>gAt	p.G224D	HNRNPA1_ENST00000340913.6_Missense_Mutation_p.G224D|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.G224D			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	224	Gly-rich.|RNA-binding RGG-box.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AACTTCAGTGGTCGTGGTATG	0.438000													10	26					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994794	39994794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39994794C>T	ENST00000205143.4	+	5	743	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	DLL3_ENST00000356433.5_Missense_Mutation_p.P246S	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	246	EGF-like 1.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGGACTGGACCCCTCTGCAC	0.662000													14	25					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13395921	13395921	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13395921G>A	ENST00000360228.5	-	21	3652	c.3653C>T	c.(3652-3654)cCt>cTt	p.P1218L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1219L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1219					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTATAGGGAGGCATTGGCTT	0.597000													6	92					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100658875	100658875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100658875G>A	ENST00000218516.3	-	2	314	c.293C>T	c.(292-294)cCc>cTc	p.P98L	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	98					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	ATCTCTTTGGGGAGCCATCCA	0.478000													14	229					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391394	1391394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1391394G>A	ENST00000324385.5	+	8	898	c.740G>A	c.(739-741)gGc>gAc	p.G247D	BAIAP3_ENST00000397489.1_Missense_Mutation_p.G229D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G189D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G212D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G184D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G212D|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G229D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	247	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TTCCGCAAGGGCAGCAAGCGC	0.652000													25	45					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904377	23904377	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:23904377C>T	ENST00000382298.3	-	10	14226	c.13638G>A	c.(13636-13638)caG>caA	p.Q4546Q	SACS_ENST00000382292.3_Silent_p.Q4546Q|SACS_ENST00000402364.1_Silent_p.Q3796Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4546	HEPN.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATTTGGGATCTGAGGAAAGG	0.383000													6	96					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798467	99798467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99798467G>A	ENST00000426455.1	+	19	2343	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.A588T|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.A646T|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	646					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAGGCTGGGGCGCATGCCCT	0.572000													10	66					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62378799	62378799	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62378799C>T	ENST00000394773.2	-	3	519	c.212G>A	c.(211-213)gGa>gAa	p.G71E	EML3_ENST00000494176.2_Missense_Mutation_p.G43E|EML3_ENST00000278845.4_Missense_Mutation_p.G72E|EML3_ENST00000529309.1_Missense_Mutation_p.G71E	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	71						cytoplasm|microtubule	protein binding	p.L72fs*46(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGTGGCAGTCCTGGGGGGGC	0.597000													3	42					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997460	28997460	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:28997460C>T	ENST00000322982.3	-	0	474				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										TATGAAGTTGCCGCCGAGGCT	0.632000													4	76					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15812190	15812190	+	Silent	SNP	G	G	A	rs112564682		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:15812190G>A	ENST00000452625.2	-	38	5385	c.5298C>T	c.(5296-5298)gtC>gtT	p.V1766V	MYH11_ENST00000396324.3_Silent_p.V1766V|MYH11_ENST00000300036.5_Silent_p.V1759V|MYH11_ENST00000576790.2_Silent_p.V1759V|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1759					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGCTTTGCGGACCCGGTCGC	0.662000			T	CBFB	AML								31	55					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223497942	223497942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:223497942G>A	ENST00000281828.6	-	7	954	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	FARSB_ENST00000536361.1_Missense_Mutation_p.L132F	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	231					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GGCATTGAAAGGACGACACCA	0.343000													7	94					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501099	195501099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195501099G>A	ENST00000463781.3	-	4	13480	c.13021C>T	c.(13021-13023)Ctc>Ttc	p.L4341F	MUC4_ENST00000346145.4_Missense_Mutation_p.L105F|MUC4_ENST00000475231.1_Missense_Mutation_p.L4341F|MUC4_ENST00000349607.4_Missense_Mutation_p.L54F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1098					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTTGAAGAGTGGGGAGGTG	0.662000													18	17					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56108464	56108464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:56108464C>T	ENST00000416613.1	+	17	2230	c.2158C>T	c.(2158-2160)Ctt>Ttt	p.L720F	KTN1_ENST00000438792.2_Missense_Mutation_p.L720F|KTN1_ENST00000413890.2_Missense_Mutation_p.L720F|KTN1_ENST00000395314.3_Missense_Mutation_p.L720F|KTN1_ENST00000395311.1_Missense_Mutation_p.L720F|KTN1_ENST00000395308.1_Missense_Mutation_p.L720F|KTN1_ENST00000395309.3_Missense_Mutation_p.L720F			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	720					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTACAGACTCTTGTTTCTGA	0.294000			T	RET	papillary thryoid								41	50					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107555951	107555951	+	Splice_Site	SNP	G	G	A	rs121964990		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:107555951G>A	ENST00000205402.5	+	9	966	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	DLD_ENST00000437604.2_Splice_Site_p.G181S|DLD_ENST00000440410.1_Splice_Site_p.G206S|DLD_ENST00000537148.1_Splice_Site_p.G130S	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	229			G -> C (in DLD deficiency; carrier rate among Askenazi Jewish 1:94).		branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TTATTTGCAGGGTTCAGTTTG	0.303000													6	86					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41191512	41191512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41191512C>T	ENST00000220509.5	+	4	835	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	166					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGGGACTGCCCAAGGCCACAT	0.602000													4	90					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135379792	135379792	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:135379792G>A	ENST00000442011.2	+	3	440	c.279G>A	c.(277-279)ggG>ggA	p.G93G	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Silent_p.G93G	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	93	EMI.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTCCCTGGGGAGAAGGGCT	0.532000													9	95					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48682610	48682610	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48682610G>A	ENST00000544264.1	-	26	8125	c.7845C>T	c.(7843-7845)caC>caT	p.H2615H	CELSR3_ENST00000164024.4_Silent_p.H2610H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2610					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAAGAAGTAGTGCAGGAGGA	0.652000													9	17					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272703	8272703	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:8272703C>T	ENST00000396267.1	-	2	1813	c.982G>A	c.(982-984)Gca>Aca	p.A328T	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.A410T|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	410	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CCAAACATTGCCTCAAATGGA	0.468000													4	111					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596042	48596042	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:48596042G>A	ENST00000323776.5	+	5	900	c.738G>A	c.(736-738)caG>caA	p.Q246Q	MYCBPAP_ENST00000436259.2_Silent_p.Q209Q	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	209					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAACTGGCAGCGTAACACAG	0.582000													32	55					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900708	112900708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:112900708G>A	ENST00000374530.3	+	8	3064	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	AKAP2_ENST00000259318.7_Missense_Mutation_p.E731K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E820K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E962K|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000434623.2_Missense_Mutation_p.E820K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E962K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E962K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		731							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGCAGCTCAGGAAAGGGAAGA	0.532000													22	31					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587352	204587352	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:204587352G>A	ENST00000367175.1	-	1	3981	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	LRRN2_ENST00000367177.3_Missense_Mutation_p.A590V|LRRN2_ENST00000367176.3_Missense_Mutation_p.A590V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	590					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTACTCCGTGGCCTGAAGGAG	0.642000													4	42					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699578	48699578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48699578C>T	ENST00000544264.1	-	1	770	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	CELSR3_ENST00000164024.4_Missense_Mutation_p.G164S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	164					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCCCCGAGCCCGGGACCCCT	0.632000													7	121					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110223114	110223114	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:110223114G>A	ENST00000399132.1	-	2	592	c.62C>T	c.(61-63)aCc>aTc	p.T21I	COL25A1_ENST00000399126.1_Missense_Mutation_p.T21I|COL25A1_ENST00000399127.1_Missense_Mutation_p.T21I	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	21						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)		TTCGGCAGGGGTCGGGTCCTC	0.687000													8	84					0	0	1	0	0
ZNF397	84307	broad.mit.edu	37	18	32823182	32823182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:32823182G>A	ENST00000330501.7	+	3	634	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZNF397_ENST00000261333.6_Missense_Mutation_p.E161K|ZNF397_ENST00000355632.4_Missense_Mutation_p.E161K|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000585800.1_Missense_Mutation_p.E161K|ZNF397_ENST00000591206.1_Missense_Mutation_p.E161K|ZNF397_ENST00000592264.1_Missense_Mutation_p.E161K	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	161					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AGCATCCCAAGAGTCAACAGA	0.468000													14	66					0	0	1	0	0
RP11-701H24.10	0	broad.mit.edu	37	15	25287184	25287184	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:25287184G>A	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							TCAATCTGAGGTCCAGATGTG	0.478000													14	38					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239176786	239176786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:239176786G>A	ENST00000254657.3	-	8	1157	c.878C>T	c.(877-879)cCc>cTc	p.P293L	PER2_ENST00000440245.1_Missense_Mutation_p.P293L|PER2_ENST00000355768.2_Missense_Mutation_p.P293L|PER2_ENST00000254658.3_Missense_Mutation_p.P293L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	293					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GACCAGGTAGGGCGTCATGCG	0.552000													16	39					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049334	175049334	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:175049334A>G	ENST00000239462.4	+	4	933	c.820A>G	c.(820-822)Acg>Gcg	p.T274A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	274	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTCAAGAACACGGAGGATTC	0.607000													3	35					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28913374	28913374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:28913374C>T	ENST00000282397.4	-	17	2670	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	FLT1_ENST00000540678.1_Missense_Mutation_p.D25N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	807					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CACTGCTCATCCAAAGGAACT	0.413000													22	29					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2644626	2644626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2644626C>T	ENST00000380843.4	-	2	92	c.62G>A	c.(61-63)gGg>gAg	p.G21E	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.G21E	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	21					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TCTCCATGCCCCAGGGTTCCC	0.612000													25	35					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28926076	28926076	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28926076C>T	ENST00000358201.4	-	4	1048	c.460G>A	c.(460-462)Gag>Aag	p.E154K	RABEP2_ENST00000544477.1_Missense_Mutation_p.E83K|RABEP2_ENST00000357573.6_Missense_Mutation_p.E154K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	154					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGTACGATCTCCCGCAGCTTC	0.622000													41	37					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394384	138394384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:138394384G>A	ENST00000310018.2	-	21	2696	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A805V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A805V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	805					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGTCGCAGGGCGTGCAGGAA	0.552000													58	205					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96942665	96942665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96942665C>T	ENST00000323853.5	-	43	6228	c.6151G>A	c.(6151-6153)Gtc>Atc	p.V2051I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2051	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCGCAATGACAGGGCCTGTG	0.622000													5	105					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532283	190532283	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:190532283G>A	ENST00000260952.4	+	4	1838	c.1425G>A	c.(1423-1425)gtG>gtA	p.V475V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	475	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GTTGGTTAGTGGCCCAGGAAG	0.428000													57	95					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175939	51175939	+	Missense_Mutation	SNP	C	C	T	rs147997808		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:51175939C>T	ENST00000251020.4	-	2	227	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	65					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTTTTAGTACAGTTCTTCTT	0.478000													36	75					0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40849556	40849556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40849556C>T	ENST00000358005.3	-	3	533	c.260G>A	c.(259-261)aGa>aAa	p.R87K	C15orf57_ENST00000558113.1_Missense_Mutation_p.R87K|C15orf57_ENST00000416810.2_Missense_Mutation_p.R87K|C15orf57_ENST00000559911.1_Missense_Mutation_p.R87K|C15orf57_ENST00000560305.1_Missense_Mutation_p.R87K|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000558750.1_Missense_Mutation_p.R96K|C15orf57_ENST00000558871.1_Missense_Mutation_p.R87K|C15orf57_ENST00000561011.1_Missense_Mutation_p.R87K	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	87										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						ACCTTTGATTCTTCTTAGCTT	0.383000													17	58					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131551	45131551	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:45131551G>A	ENST00000575173.1	-	0	418																											TTCGCAAAGGGAGAGTCAGGT	0.468000													17	34					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112463336	112463336	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:112463336G>A	ENST00000230538.7	-	20	3049	c.2652C>T	c.(2650-2652)taC>taT	p.Y884Y	LAMA4_ENST00000389463.4_Silent_p.Y877Y|LAMA4_ENST00000424408.2_Silent_p.Y877Y|LAMA4_ENST00000522006.1_Silent_p.Y877Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	884	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGCTTCCGAGGTACAGGATAA	0.453000													7	82					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2209632	2209632	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:2209632T>C	ENST00000334651.5	-	4	351	c.299A>G	c.(298-300)tAc>tGc	p.Y100C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	100							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAAGTCACAGTATAAAAATTC	0.393000													48	81					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82911195	82911195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:82911195G>A	ENST00000306270.7	-	19	3283	c.2734C>T	c.(2734-2736)Ctt>Ttt	p.L912F	IBTK_ENST00000510291.1_Missense_Mutation_p.L912F|IBTK_ENST00000503631.1_Missense_Mutation_p.L711F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	912					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAAACATCAAGAGACCTAAAA	0.318000													5	27					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36541577	36541577	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36541577G>A	ENST00000397293.2	-	3	428	c.81C>T	c.(79-81)atC>atT	p.I27I	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000349314.2_Silent_p.I98I|APOL3_ENST00000397287.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	98					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TAGTCAGCAGGATTTGCAGAT	0.512000													25	51					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425764	49425764	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:49425764G>A	ENST00000301067.7	-	39	12723	c.12724C>T	c.(12724-12726)Ccc>Tcc	p.P4242S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTGGTAGGGTGGGGTCTGG	0.657000													20	33					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57373759	57373759	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:57373759G>A	ENST00000361249.3	+	9	1449	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	451	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGTCATTAAAGTATAATCCTG	0.458000													10	27					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39903576	39903576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39903576C>T	ENST00000564288.1	+	71	18893	c.18116C>T	c.(18115-18117)aCc>aTc	p.T6039I	MACF1_ENST00000289893.4_Missense_Mutation_p.T4482I|MACF1_ENST00000545844.1_Missense_Mutation_p.T3980I|MACF1_ENST00000361689.2_Missense_Mutation_p.T3980I|MACF1_ENST00000567887.1_Missense_Mutation_p.T6076I|MACF1_ENST00000539005.1_Missense_Mutation_p.T3850I|MACF1_ENST00000372915.3_Missense_Mutation_p.T5938I|MACF1_ENST00000317713.7_Missense_Mutation_p.T3980I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6051					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGTGCCACCGTGGAGCTA	0.527000													9	128					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3513922	3513922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3513922C>T	ENST00000225519.3	-	7	1471	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	457					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCATCCACATCCTGCCCAAAG	0.577000													44	75					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:53769492G>A	ENST00000288139.4	+	21	2891	c.2773G>A	c.(2773-2775)Gca>Aca	p.A925T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627000													43	62					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35706217	35706217	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:35706217G>A	ENST00000373866.3	+	3	388	c.366G>A	c.(364-366)aaG>aaA	p.K122K	ARMC12_ENST00000288065.2_Silent_p.K149K|ARMC12_ENST00000373869.3_Silent_p.K122K			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	122							binding										TGGATGACAAGGACAACAGTG	0.507000													18	39					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507165	44507165	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44507165C>T	ENST00000255152.2	+	2	2177	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	ZSWIM3_ENST00000454862.2_Silent_p.S650S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	656							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CTGGCCCCTCCCAGCCATCTG	0.597000													22	136					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906028	96906028	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96906028G>A	ENST00000446816.1	+	0	564																											AGAATACATGGACAATCCAAA	0.418000													5	5					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126683113	126683113	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:126683113C>T	ENST00000309035.6	-	5	2455	c.2325G>A	c.(2323-2325)caG>caA	p.Q775Q	CTBP2_ENST00000494626.2_Silent_p.Q235Q|CTBP2_ENST00000411419.2_Silent_p.Q235Q|CTBP2_ENST00000531469.1_Silent_p.Q235Q|CTBP2_ENST00000334808.6_Silent_p.Q303Q|CTBP2_ENST00000337195.5_Silent_p.Q235Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	235					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCAGTCGCTCTGATACAGCA	0.483000													8	17					0	0	1	0	0
PPP1R42	286187	broad.mit.edu	37	8	67922978	67922978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:67922978G>A	ENST00000522909.1	-	5	708	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PPP1R42_ENST00000324682.5_Missense_Mutation_p.A175V			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	175																	GTTGTCAACGGCTATGAGCTG	0.284000													5	88					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4712990	4712990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4712990G>A	ENST00000263088.6	+	8	750	c.619G>A	c.(619-621)Ggg>Agg	p.G207R	PLD2_ENST00000572940.1_Missense_Mutation_p.G207R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	207	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACAGGGAGGGGATGATCCG	0.597000													41	124					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159170384	159170384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:159170384C>T	ENST00000283233.5	-	8	1100	c.787G>A	c.(787-789)Gac>Aac	p.D263N	CCDC148_ENST00000536771.1_Missense_Mutation_p.D177N|CCDC148_ENST00000409187.1_Missense_Mutation_p.D272N	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	263										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCAGTGGTCTTCTTCACTT	0.378000													14	32					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740371	30740371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30740371G>A	ENST00000262518.4	+	26	6128	c.5743G>A	c.(5743-5745)Gca>Aca	p.A1915T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1853T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1757T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1915					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGGGCCCTGGCACCTGTGTA	0.607000													32	62					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294290	28294290	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28294290C>T	ENST00000414429.1	-	8	1777	c.874G>A	c.(874-876)Gag>Aag	p.E292K	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E292K|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E292K|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E133K|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E292K					zinc finger and SCAN domain containing 31																		TAGGGTTTCTCTCCAGTGTGG	0.507000													17	108					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71691951	71691951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:71691951C>T	ENST00000254799.6	-	7	1264	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	GRSF1_ENST00000502323.1_Missense_Mutation_p.E221K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E265K|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.E221K	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	383					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCTGGCACCTCCTTAGGCAAT	0.413000													16	30					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664742	136664742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:136664742G>A	ENST00000469404.1	+	2	443	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	NCK1_ENST00000288986.2_Missense_Mutation_p.V182I|NCK1_ENST00000481752.1_Missense_Mutation_p.V182I	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	182	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATTAGCAGCAGTCGTCAATAA	0.428000													8	70					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59827520	59827520	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:59827520C>T	ENST00000395125.1	+	22	2687	c.2664C>T	c.(2662-2664)aaC>aaT	p.N888N	DAAM1_ENST00000351081.1_Splice_Site_p.N888N|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Splice_Site_p.N878N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	888	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTACAACAGCATGACTGAGC	0.343000													8	50					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59376017	59376017	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:59376017C>T	ENST00000263847.1	-	3	1241	c.762G>A	c.(760-762)aaG>aaA	p.K254K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	254					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGTTTGATCTTTTCATTGC	0.473000													42	105					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40801813	40801813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40801813C>T	ENST00000248929.9	+	8	968	c.779C>T	c.(778-780)cCt>cTt	p.P260L	SGSM3_ENST00000454798.2_Missense_Mutation_p.P193L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	260	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CAGTACCTGCCTCGCCTGGAC	0.632000													8	84					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559746	54559746	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:54559746G>A	ENST00000566473.2	+	17	2130	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E	ANKFN1_ENST00000318698.2_Silent_p.E710E			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	710										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACACACAGGAGGTGTTGGAAA	0.507000													43	99					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037337	14037337	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:14037337C>T	ENST00000318003.7	+	18	2189	c.1948C>T	c.(1948-1950)Cct>Tct	p.P650S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P650S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	650	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGGATCTTCCCTGACCTCAG	0.642000													12	20					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36645848	36645848	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36645848G>A	ENST00000316156.4	+	16	2854		c.e16-1		MAP7D1_ENST00000373151.2_Splice_Site|MAP7D1_ENST00000373150.4_Splice_Site|MAP7D1_ENST00000373148.4_Splice_Site			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1							cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				TTTTTCCCCAGAAGTCCTTTA	0.547000													69	101					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145748718	145748718	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145748718G>A	ENST00000529415.2	-	5	800	c.683C>T	c.(682-684)aCc>aTc	p.T228I	LRRC24_ENST00000533758.1_Missense_Mutation_p.T225I|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Splice_Site			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	228	LRRCT.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTCCCTGGAGGTGAGCAGCCG	0.652000													8	17					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269720	28269720	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28269720C>T	ENST00000405948.2	+	7	2509	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L	PGBD1_ENST00000259883.3_Silent_p.L697L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	697					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTATCAGTCTGTGCTCCAA	0.383000													4	90					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175990	51175990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:51175990C>T	ENST00000251020.4	-	2	176	c.143G>A	c.(142-144)tGc>tAc	p.C48Y	SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	48					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCGGCACAGCACCGGCCACA	0.438000													47	100					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42454304	42454304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42454304C>T	ENST00000318006.5	-	23	2548	c.2386G>A	c.(2386-2388)Gtc>Atc	p.V796I	VPS39_ENST00000348544.4_Missense_Mutation_p.V807I	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	807					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TCTTCCAAGACCTTTTCCAGG	0.478000													38	53					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187003	123187003	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123187003G>A	ENST00000328880.5	-	1	887	c.828C>T	c.(826-828)ttC>ttT	p.F276F	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	276					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GAGTGATAAAGAACGCCAGGT	0.542000													3	51					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420142	11420142	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:11420142C>T	ENST00000381842.3	-	5	951	c.914G>A	c.(913-915)gGa>gAa	p.G305E	PRB3_ENST00000279573.7_3'UTR|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.G305E	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	305	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGAGGCTGTCCCTGGGGAGG	0.547000													37	77					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107431903	107431903	+	Silent	SNP	G	G	A	rs139740946	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107431903G>A	ENST00000334504.7	-	21	1664	c.1431C>T	c.(1429-1431)gaC>gaT	p.D477D	COL4A6_ENST00000545689.1_Silent_p.D477D|COL4A6_ENST00000538570.1_Silent_p.D477D|COL4A6_ENST00000372216.4_Silent_p.D478D|COL4A6_ENST00000394872.2_Silent_p.D478D	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	478	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGAAACCTGAGTCTCCTGGGA	0.478000									Alport syndrome with Diffuse Leiomyomatosis				4	45					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294387	219294387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219294387C>T	ENST00000248444.5	+	8	926	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	VIL1_ENST00000440053.1_Missense_Mutation_p.L280F|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	280	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGGACCTGCTCAGTCACGA	0.607000													27	52					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740856	110740856	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:110740856C>T	ENST00000331565.4	+	12	2459	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	658					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACAAGAAGGGCCGCATGATGA	0.607000													18	22					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153042386	153042386	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153042386T>C	ENST00000538966.1	+	30	5218	c.4947T>C	c.(4945-4947)cgT>cgC	p.R1649R	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000361971.5_Silent_p.R1626R|PLXNB3_ENST00000538776.1_Silent_p.R1279R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1626					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCACCGTGGCAGCACCA	0.687000													6	5					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28899660	28899660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:28899660C>T	ENST00000375664.4	+	9	1672	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	WAC_ENST00000428935.1_Nonsense_Mutation_p.Q355*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q248*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q297*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q400*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGCCTCACTGCAGTCTATAAT	0.373000													44	168					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37876049	37876049	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:37876049C>T	ENST00000406381.2	+	18	2328	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	ERBB2_ENST00000541774.1_Silent_p.D621D|ERBB2_ENST00000445658.2_Silent_p.D360D|ERBB2_ENST00000584601.1_Silent_p.D606D|ERBB2_ENST00000584450.1_Silent_p.D636D|ERBB2_ENST00000540147.1_Silent_p.D606D|ERBB2_ENST00000269571.5_Silent_p.D636D	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	636					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTGTGTGGACCTGGATGACA	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			16	43					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32295657	32295657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:32295657C>T	ENST00000409299.3	-	4	586	c.494G>A	c.(493-495)gGg>gAg	p.G165E	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	165						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CAGCACCAGCCCCCACACCAC	0.612000													26	76					0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89738646	89738646	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:89738646C>T	ENST00000352732.5	+	11	1790	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ABHD2_ENST00000565973.1_Silent_p.L424L|ABHD2_ENST00000355100.3_Silent_p.L424L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	424						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GGAGGCCGACCTGGAGTGAGG	0.612000													7	24					0	0	1	0	0
ATP5S	27109	broad.mit.edu	37	14	50779771	50779771	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:50779771C>T	ENST00000245448.6	+	1	725	c.33C>T	c.(31-33)acC>acT	p.T11T	ATP5S_ENST00000426751.2_Silent_p.T11T|ATP5S_ENST00000554438.1_Intron|ATP5S_ENST00000311459.7_Silent_p.T11T	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	11					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		AGCGACTCAcctgtgcaggtc	0.438000													12	68					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351122	56351122	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56351122G>A	ENST00000548747.1	-	6	1627	c.965C>T	c.(964-966)aCc>aTc	p.T322I	PMEL_ENST00000536427.1_Missense_Mutation_p.T322I|PMEL_ENST00000552882.1_Missense_Mutation_p.T322I|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.T236I|PMEL_ENST00000539511.1_Missense_Mutation_p.T236I|PMEL_ENST00000548493.1_Missense_Mutation_p.T322I|PMEL_ENST00000449260.2_Missense_Mutation_p.T322I|PMEL_ENST00000360714.4_Missense_Mutation_p.T322I			P40967	PMEL_HUMAN	premelanosome protein	322	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCAGCTGTGGTGTTAGGGGC	0.607000													12	47					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032738	74032738	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74032738C>T	ENST00000569673.1	-	3	1606	c.402G>A	c.(400-402)ggG>ggA	p.G134G	C15orf59_ENST00000379822.4_Silent_p.G134G|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	134										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGGGCCAGCCCCTGGCCGAG	0.632000													39	65					0	0	1	0	0
HIST4H4	121504	broad.mit.edu	37	12	14924006	14924006	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:14924006C>T	ENST00000539745.1	-	1	59	c.13G>A	c.(13-15)Ggt>Agt	p.G5S		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	5					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CCACCTTTACCTCGCCCAGAC	0.582000													4	55					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47177852	47177852	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:47177852C>T	ENST00000433867.1	-	19	3042	c.2565G>A	c.(2563-2565)agG>agA	p.R855R	PRKD2_ENST00000595515.1_Silent_p.R865R|PRKD2_ENST00000601806.1_Silent_p.R698R|PRKD2_ENST00000600194.1_Silent_p.R698R|PRKD2_ENST00000291281.4_Silent_p.R855R|DACT3-AS1_ENST00000525008.1_RNA	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	855					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCGAGATCCCTGTCCGTGG	0.642000													18	23					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241639	206241639	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206241639G>A	ENST00000331555.5	-	4	788	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGAACCTGGAGACTGGCCG	0.547000													18	45					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36251583	36251583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:36251583C>T	ENST00000296604.3	-	13	1671	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	RANBP3L_ENST00000502994.1_Missense_Mutation_p.A421T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	396	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TACAAATATGCTGTATCTTGG	0.358000													23	51					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376133	18376133	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18376133C>T	ENST00000392413.4	-	3	2432	c.2217G>A	c.(2215-2217)ctG>ctA	p.L739L	KIAA1683_ENST00000600328.3_Silent_p.L739L|KIAA1683_ENST00000600359.3_Silent_p.L693L	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGTCTTGGTCAGACAGGTGG	0.612000													5	78					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069708	114069708	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:114069708G>A	ENST00000462705.1	-	11	1819	c.998C>T	c.(997-999)cCc>cTc	p.P333L	ZBTB20_ENST00000471418.1_Missense_Mutation_p.P333L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.P406L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.P333L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.P333L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.P333L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.P333L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGGTTGGGTGGGTTCAGCCTG	0.637000													4	78					0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098315	82098315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:82098315C>T	ENST00000421924.2	-	6	823	c.412G>A	c.(412-414)Gac>Aac	p.D138N	DYDC1_ENST00000372202.1_Missense_Mutation_p.D138N|DYDC1_ENST00000372204.3_Missense_Mutation_p.D138N			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	138										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			TTGCCTGAGTCTAGTGTTGCT	0.308000													20	40					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56484355	56484355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:56484355C>T	ENST00000370765.6	-	23	4584	c.4477G>A	c.(4477-4479)Gca>Aca	p.A1493T	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5170					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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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)			ACAGCATGTGCCCTTGTGATT	0.328000													22	54					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22436934	22436934	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:22436934C>T	ENST00000334304.5	-	10	1712	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Splice_Site_p.E255E|GPR125_ENST00000502482.1_Splice_Site_p.E481E	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	481					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGAGAAGTACCTCTTTTGATT	0.333000													6	57					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124755100	124755100	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:124755100G>A	ENST00000306534.3	-	17	3323	c.2838C>T	c.(2836-2838)acC>acT	p.T946T	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.T801T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	946					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGAGGTTGGGGGTCAGGAAGA	0.642000													18	31					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112611	148112611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148112611G>A	ENST00000361727.3	+	24	4415	c.3899G>A	c.(3898-3900)gGg>gAg	p.G1300E	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G359E|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1300					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAGCAAAGGGGGCGGAGTCG	0.542000										HNSCC(39;0.1)			30	89					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59368338	59368338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:59368338C>T	ENST00000263847.1	-	6	1612	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	378					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GATATTGCTGCCAGTACGTCT	0.458000													6	125					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77369393	77369393	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:77369393G>A	ENST00000373316.4	+	3	436	c.269G>A	c.(268-270)gGc>gAc	p.G90D	PGK1_ENST00000537456.1_Missense_Mutation_p.G62D|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	90					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TCTCTGCTGGGCAAGTAAGTG	0.507000													4	95					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129883	149129883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149129883C>T	ENST00000247930.4	-	6	1803	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGACATCTCCCCGGGCAGC	0.662000													13	34					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26174690	26174690	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:26174690C>T	ENST00000264712.3	-	5	2553	c.1974G>A	c.(1972-1974)caG>caA	p.Q658Q	KIF3C_ENST00000405914.1_Silent_p.Q658Q|KIF3C_ENST00000496378.1_5'UTR	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	658	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAACTTCCACTGCTCCTCCT	0.587000													19	35					0	0	1	0	0
NFYA	4800	broad.mit.edu	37	6	41057337	41057337	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:41057337G>A	ENST00000341376.6	+	5	530	c.329G>A	c.(328-330)gGa>gAa	p.G110E	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.G81E	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	110	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCCACCTGGACAGATCCAG	0.537000													12	19					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612813	31612813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31612813C>T	ENST00000404765.2	-	10	1568	c.1279G>A	c.(1279-1281)Gct>Act	p.A427T	BAG6_ENST00000439687.2_Missense_Mutation_p.A427T|BAG6_ENST00000211379.5_Missense_Mutation_p.A427T|BAG6_ENST00000375976.4_Missense_Mutation_p.A427T|BAG6_ENST00000362049.6_Missense_Mutation_p.A427T|BAG6_ENST00000375964.6_Missense_Mutation_p.A433T			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	433	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCGGGGGAGCTGGACCTGGC	0.627000													42	86					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888292	46888292	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46888292G>A	ENST00000359759.4	+	2	1509	c.1488G>A	c.(1486-1488)cgG>cgA	p.R496R	COL18A1_ENST00000400337.2_Silent_p.R81R|COL18A1_ENST00000355480.5_Silent_p.R261R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	496	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AAGTGGCCCGGTACCACTTCC	0.657000													4	97					0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	53995127	53995127	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:53995127G>A	ENST00000295304.4	+	1	199	c.104G>A	c.(103-105)gGc>gAc	p.G35D	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000406687.1_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	35										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTGGCAGGGCAGCACGGAC	0.622000													5	21					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595229	12595229	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:12595229C>T	ENST00000378847.3	+	2	435	c.98C>T	c.(97-99)gCc>gTc	p.A33V	CAMK1D_ENST00000378845.1_Missense_Mutation_p.A33V|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	33	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CACAGCGGGGCCTTTTCCGAA	0.458000													5	196					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633778	116633778	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:116633778G>A	ENST00000260210.4	-	4	550	c.527C>T	c.(526-528)cCt>cTt	p.P176L	BUD13_ENST00000375445.3_Missense_Mutation_p.P176L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	176	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCTCCTGGGAGGAGATGTGTC	0.592000													44	99					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104353448	104353448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104353448G>A	ENST00000369902.3	+	5	819	c.653G>A	c.(652-654)gGc>gAc	p.G218D	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.G218D|SUFU_ENST00000423559.2_Missense_Mutation_p.G218D	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	218					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AACGGGCAGGGCATCCTGGAG	0.617000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				4	52					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8172487	8172487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:8172487G>A	ENST00000314666.6	+	28	4055	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	PFAS_ENST00000545834.1_Missense_Mutation_p.A884T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1308					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGGCAGTGGGCATGGCGACC	0.637000													4	58					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38182772	38182772	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:38182772C>T	ENST00000378505.2	-	2	210	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	RPGR_ENST00000342811.3_Missense_Mutation_p.G12S|RPGR_ENST00000318842.7_Missense_Mutation_p.G12S|RPGR_ENST00000309513.3_Missense_Mutation_p.G12S|RPGR_ENST00000339363.3_Missense_Mutation_p.G12S|RPGR_ENST00000338898.3_Missense_Mutation_p.G12S|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	12					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AACACAGCACCCGAATCTGCA	0.323000													15	66					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27425606	27425606	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:27425606C>T	ENST00000358918.3	-	4	613	c.414G>A	c.(412-414)caG>caA	p.Q138Q	APP_ENST00000439274.2_Silent_p.Q82Q|APP_ENST00000354192.3_Silent_p.Q82Q|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Silent_p.Q133Q|APP_ENST00000448388.2_Silent_p.Q103Q|APP_ENST00000359726.3_Silent_p.Q138Q|APP_ENST00000357903.3_Silent_p.Q138Q|APP_ENST00000348990.5_Silent_p.Q138Q|APP_ENST00000346798.3_Silent_p.Q138Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	138					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCATCCTCTCCTGGTGTAAGA	0.443000													10	145					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628121	3628121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3628121G>A	ENST00000325418.4	+	1	911	c.892G>A	c.(892-894)Gac>Aac	p.D298N	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	298					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CACAGGCCAGGACTCTTGTCA	0.567000													4	42					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487315	94487315	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:94487315G>A	ENST00000375708.3	-	9	1659	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.V347V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	487	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACCTTTGTAGACTTTCCCAA	0.597000													22	317					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	360012	360012	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:360012G>T	ENST00000262320.3	-	4	1448	c.1077C>A	c.(1075-1077)agC>agA	p.S359R	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.S359R	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	359	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGACCTGCACGCTCTCCTGCA	0.622000													4	24					0.0215528	0.0215593	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24924283	24924283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:24924283G>A	ENST00000329468.2	+	1	3743	c.3269G>A	c.(3268-3270)gGt>gAt	p.G1090D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TACATTCCTGGTTTAGACCCA	0.537000													9	154					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158383135	158383135	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:158383135G>A	ENST00000486715.1	+	12	1747	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000478576.1_Missense_Mutation_p.E464K|GFM1_ENST00000264263.5_Missense_Mutation_p.E483K	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	464					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACGATCTGGAAAAATTTTC	0.313000													13	9					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978789	148978789	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148978789G>A	ENST00000434415.1	+	6	1159	c.996G>A	c.(994-996)ggG>ggA	p.G332G	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCCACCGGGGGCCAGTGGGG	0.721000													7	16					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887757	9887757	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:9887757C>T	ENST00000357775.5	+	2	1315	c.1080C>T	c.(1078-1080)acC>acT	p.T360T	TXNDC2_ENST00000306084.6_Silent_p.T427T|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAGCCACCCCATCCAAGG	0.542000													13	76					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466221	10466221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:10466221C>T	ENST00000382483.3	-	4	5610	c.5387G>A	c.(5386-5388)gGc>gAc	p.G1796D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1796					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCACTTATGCCCTCTCCCTC	0.572000													86	137					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834616	82834616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:82834616G>A	ENST00000265077.3	+	8	6359	c.5794G>A	c.(5794-5796)Gaa>Aaa	p.E1932K	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E945K|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1932	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCCTTTGGAGGAAGATTTCAG	0.418000													23	74					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43576853	43576853	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:43576853G>A	ENST00000216129.6	-	3	504	c.441C>T	c.(439-441)aaC>aaT	p.N147N		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	147					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGCCCATCAGGTTGGCCATGC	0.652000													6	77					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77743824	77743824	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:77743824G>A	ENST00000261534.4	-	21	2350	c.2148C>T	c.(2146-2148)agC>agT	p.S716S		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	716					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AGAGGTAGAAGCTGTGAGAGA	0.582000													11	18					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36359334	36359334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36359334G>A	ENST00000373204.4	+	5	785	c.572G>A	c.(571-573)gGg>gAg	p.G191E	AGO1_ENST00000373206.1_Missense_Mutation_p.G116E	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CACCCGCTGGGGGGTGGGCGC	0.632000													3	37					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39065083	39065083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:39065083C>T	ENST00000295373.6	-	13	2558	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	811							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GACTGACTTGCTAACCCCTGA	0.328000													27	52					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49070055	49070055	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49070055C>T	ENST00000395443.2	-	8	2519	c.2047G>A	c.(2047-2049)Gtt>Att	p.V683I	QRICH1_ENST00000357496.2_Splice_Site_p.V683I|QRICH1_ENST00000424300.1_Splice_Site_p.V683I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	683										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTTTCCCTACCTTTCTGGCCA	0.512000													7	78					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599467	15599467	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:15599467C>T	ENST00000400577.3	+	5	708	c.699C>T	c.(697-699)caC>caT	p.H233H	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	233							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AATGGACTCACCAACAACCAA	0.433000													51	136					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691499	53691499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:53691499C>T	ENST00000262135.4	-	13	1540	c.1447G>A	c.(1447-1449)Gta>Ata	p.V483I	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.V483I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.V483I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.V483I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	483					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCACTATCTACTTTCACTAAA	0.328000													18	50					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163651	12163651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:12163651G>A	ENST00000379388.2	+	9	7446	c.7114G>A	c.(7114-7116)Ggc>Agc	p.G2372S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.G237S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2372					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCGACTCCAGGCTTGCCTTC	0.537000													6	97					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321316	13321316	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:13321316G>A	ENST00000607658.1	-	3	274	c.124C>T	c.(124-126)Cca>Tca	p.P42S	TBC1D7_ENST00000356436.4_Missense_Mutation_p.P69S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.P69S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.P42S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.P69S			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	69					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TCGTGGTGTGGAGGCAAGATT	0.468000													8	128					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87025576	87025576	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:87025576C>T	ENST00000340353.7	+	11	1200	c.998C>T	c.(997-999)tCc>tTc	p.S333F	TMEM135_ENST00000535167.1_Missense_Mutation_p.S216F|TMEM135_ENST00000532959.1_Missense_Mutation_p.S226F|TMEM135_ENST00000305494.5_Missense_Mutation_p.S355F	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	355						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TATTTAGCGTCCAAATTGGTA	0.328000													3	39					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48689935	48689935	+	Missense_Mutation	SNP	G	G	A	rs149830456		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48689935G>A	ENST00000544264.1	-	11	5966	c.5686C>T	c.(5686-5688)Cac>Tac	p.H1896Y	CELSR3_ENST00000164024.4_Missense_Mutation_p.H1896Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1896	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCACGTGGAGCTGCTTT	0.637000													4	66					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077375	41077375	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:41077375G>A	ENST00000249016.4	+	2	1408	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	238					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCTCCTGTGGGCCCTCTCCTT	0.627000													7	84					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391444	61391444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61391444C>T	ENST00000370501.3	+	4	1453	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	361						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACCATCAACCCCATCCTGTAC	0.592000													12	166					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491369	74491369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74491369C>T	ENST00000394019.2	-	10	1017	c.620G>A	c.(619-621)aGg>aAg	p.R207K	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R143K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R207K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R207K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R143K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R207K|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R207K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R207K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	207						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTAACTGACCCTCTCCCGGAG	0.547000													12	31					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692315	195692315	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195692315G>A	ENST00000427841.1	-	0	2187					NR_003264.2																						CAGTGCTGACGTCCACATAGG	0.607000													3	11					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27235800	27235800	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:27235800C>T	ENST00000332830.4	-	12	3269		c.e12+1		PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGCTGGCTCACCTGTCCCGAT	0.542000													9	15					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885556	180885556	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:180885556C>T	ENST00000367588.4	+	2	372	c.317C>T	c.(316-318)gCt>gTt	p.A106V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCTGCTCTGCTTCCCAAGAG	0.592000													5	69					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13410434	13410434	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:13410434G>T	ENST00000278174.5	-	9	1617	c.1372C>A	c.(1372-1374)Cat>Aat	p.H458N	BTBD10_ENST00000530907.1_Missense_Mutation_p.H466N|BTBD10_ENST00000528120.1_Missense_Mutation_p.H410N	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	458						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAAGGGGGATGGATAGGGAGA	0.498000													4	56					0.00909568	0.00910396	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39503871	39503871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:39503871C>T	ENST00000559001.1	+	8	1598	c.1497C>T	c.(1495-1497)ggC>ggT	p.G499G	POU6F2_ENST00000403058.1_Silent_p.G554G|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	554	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAACCCTGGCCTTTTGTATC	0.542000													4	148					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925564	70925564	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:70925564C>T	ENST00000603540.1	+	2	1606	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	ADAM21_ENST00000267499.3_Missense_Mutation_p.L450F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	450	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCTTTTGGGCTTTGTTGCAA	0.493000													6	45					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185983044	185983044	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185983044C>T	ENST00000265022.3	-	14	1800	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	DGKG_ENST00000382164.4_Missense_Mutation_p.V382I|DGKG_ENST00000344484.4_Missense_Mutation_p.V421I|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	421					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCTGCATGACAAGTTCGCCC	0.507000													7	29					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514314	75514314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75514314C>T	ENST00000355774.2	-	2	2260	c.2045G>A	c.(2044-2046)gGg>gAg	p.G682E	MLH3_ENST00000238662.7_Missense_Mutation_p.G682E|MLH3_ENST00000556257.1_Missense_Mutation_p.G682E|MLH3_ENST00000556740.1_Missense_Mutation_p.G682E|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	682					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATTCTCTAGCCCATAACTTAT	0.358000								Mismatch excision repair (MMR)					6	126					0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20924253	20924253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:20924253G>A	ENST00000216714.3	+	3	507	c.239G>A	c.(238-240)gGa>gAa	p.G80E	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000555414.1_Missense_Mutation_p.G80E|APEX1_ENST00000398030.4_Missense_Mutation_p.G80E	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	80	Nuclear export signal (NES).				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AAGAAGAAAGGATTAGATGTG	0.458000								Other BER factors					17	29					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660793	40660793	+	Missense_Mutation	SNP	C	C	T	rs147645156	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40660793C>T	ENST00000267889.3	+	8	2567	c.2480C>T	c.(2479-2481)aCc>aTc	p.T827I		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	827					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTCTTCGACACCCTGCAGGAA	0.697000													21	36					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945924	66945924	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66945924C>T	ENST00000299752.4	-	13	1861	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	CDH16_ENST00000570262.1_Silent_p.E476E|CDH16_ENST00000394055.3_Silent_p.E556E|CDH16_ENST00000565796.1_Silent_p.E556E|CDH16_ENST00000568632.1_Silent_p.E459E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	556	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCATCACTCTCTCCACTAGCA	0.652000													20	45					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46283048	46283048	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46283048C>T	ENST00000600757.1	-	1	957	c.270G>A	c.(268-270)ggG>ggA	p.G90G	DMPK_ENST00000343373.4_Silent_p.G90G|AC011530.4_ENST00000593999.1_3'UTR|DMPK_ENST00000354227.5_Silent_p.G80G|DMPK_ENST00000291270.4_Silent_p.G80G|DMPK_ENST00000447742.2_Silent_p.G80G|DMPK_ENST00000458663.2_Silent_p.G80G			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	90	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CGCTGAACGCCCCGCGTCCGA	0.632000													26	49					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852725	182852725	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:182852725C>T	ENST00000367549.3	+	26	3325	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1072					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTCTTTGCCTCCAAGAAAGTC	0.413000													5	107					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43891596	43891596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43891596C>T	ENST00000562955.1	+	20	2905	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	SZT2_ENST00000372442.1_Missense_Mutation_p.P127S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	969						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGTCCTCTGCCCCCAGAGCC	0.597000													27	58					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12540035	12540035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:12540035G>A	ENST00000334956.8	+	12	1476	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	PARVA_ENST00000539723.1_Missense_Mutation_p.G338E|PARVA_ENST00000550549.1_Missense_Mutation_p.G338E	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	338					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	p.G337_G338insDG(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CAAGATGGAGGGTTGGAAAAG	0.512000													10	8					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41101661	41101661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:41101661G>A	ENST00000372684.3	-	4	755	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	RIMS3_ENST00000372683.1_Missense_Mutation_p.R96W	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	96					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			ACCCGGCTCCGCATCTCCACC	0.682000													15	41					0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1451589	1451589	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1451589C>T	ENST00000313486.7	-	4	545		c.e4+1		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GCTGCACTCACCGGTTCTGCA	0.622000													30	54					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536893	146536893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:146536893C>T	ENST00000361727.3	+	3	815	c.299C>T	c.(298-300)aCc>aTc	p.T100I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	100	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCATTGCAACCCAAGGAAGG	0.502000										HNSCC(39;0.1)			15	62					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1266849	1266849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1266849C>T	ENST00000339381.5	+	1	156	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	42					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GGGGCTGTTCCCCCTGGGCGA	0.697000													9	15					0	0	1	0	0
SSX9	280660	broad.mit.edu	37	X	48163039	48163039	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48163039C>T	ENST00000608568.1	-	0	366					NR_073393.1															breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ATCTACTCACCCTGATTCCTG	0.488000													7	151					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39117798	39117798	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:39117798G>A	ENST00000216044.5	+	5	1119	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	296					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTGGGCTTGGCACTGGCACT	0.532000													7	61					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46569064	46569064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:46569064C>T	ENST00000395905.3	-	7	1173	c.781G>A	c.(781-783)Gag>Aag	p.E261K	LRRC2_ENST00000296144.3_Missense_Mutation_p.E261K	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	261										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTCTGCAGCTCCTCTAGCCTA	0.413000													4	29					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488002	121488002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:121488002C>T	ENST00000296600.4	+	2	700	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	106						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GAATTTGGGTCCCAGTCAATT	0.517000													4	66					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885875	24885875	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24885875C>T	ENST00000382554.3	+	9	5238	c.4920C>T	c.(4918-4920)gaC>gaT	p.D1640D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1640	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTGTGGCTGACCCAAACACCA	0.602000													5	46					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394166	52394166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52394166C>T	ENST00000354957.3	-	5	1507	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.G380E	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAAGGCTTTCCCACAGTCACT	0.443000													7	195					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50122611	50122611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:50122611C>T	ENST00000281631.5	+	19	2109	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	PARP8_ENST00000505697.2_Missense_Mutation_p.H651Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H609Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H362Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H630Y|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.H609Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	651	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TAATAGATCACATATTGTGAA	0.318000													19	51					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22055099	22055099	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22055099C>T	ENST00000308271.9	-	11	2062	c.1414G>A	c.(1414-1416)Gtt>Att	p.V472I	USP48_ENST00000400301.1_Missense_Mutation_p.V472I|USP48_ENST00000529637.1_Missense_Mutation_p.V471I|USP48_ENST00000421625.2_Missense_Mutation_p.V472I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	472	DUSP 1.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AGCTCCTTAACCTCTTCGTGT	0.423000													18	113					0	0	1	0	0
ELP5	23587	broad.mit.edu	37	17	7155916	7155916	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7155916G>A	ENST00000574993.1	+	1	311		c.e1+1		RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Splice_Site|ELP5_ENST00000574255.1_Splice_Site|ELP5_ENST00000396628.2_Splice_Site|ELP5_ENST00000573657.1_Splice_Site|ELP5_ENST00000356683.2_Splice_Site|ELP5_ENST00000396627.2_Splice_Site					elongator acetyltransferase complex subunit 5																		CTGCTTCGGGGTGAGAGCCAG	0.692000													5	10					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40937208	40937208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40937208G>A	ENST00000346991.5	+	16	6280	c.5890G>A	c.(5890-5892)Gca>Aca	p.A1964T	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Missense_Mutation_p.A1938T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1964	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGCTTTCTGCATCGAACCA	0.358000													59	115					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399719	8399719	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:8399719G>A	ENST00000471889.1	+	8	2326	c.1941G>A	c.(1939-1941)ttG>ttA	p.L647L	SLC45A1_ENST00000377479.2_Silent_p.L681L|SLC45A1_ENST00000289877.8_Silent_p.L647L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	647					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCACCTTGCCTTACTCGC	0.542000													12	90					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746215	46746215	+	Silent	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46746215A>G	ENST00000343304.6	-	6	2059	c.1774T>C	c.(1774-1776)Ttg>Ctg	p.L592L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	592										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCCATCTCCAACTGCTCCAGG	0.567000													20	39					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351913	42351913	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42351913C>T	ENST00000269945.3	+	3	385	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.H112Y	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	112					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCTCCCAACCACTTCAGAAA	0.587000													3	4					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26537438	26537438	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:26537438C>T	ENST00000333478.6	-	4	961	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GPR113_ENST00000421160.2_Missense_Mutation_p.V257M|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000311519.1_Missense_Mutation_p.V326M|GPR113_ENST00000541401.1_Intron	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	326					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCTCACCACCTCATACAGG	0.602000													9	42					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299928	47299928	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:47299928C>T	ENST00000225941.1	+	8	1450	c.952C>T	c.(952-954)Cca>Tca	p.P318S	ABI3_ENST00000419580.2_Missense_Mutation_p.P312S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	318	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GACACTGTACCCATACACCAG	0.602000										HNSCC(55;0.14)			14	32					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734008	58734008	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:58734008G>A	ENST00000305921.3	+	5	1298	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	356	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCGAGCATTGGGCCGCTGGAG	0.458000													26	51					0	0	1	0	0
DEFA3	1668	broad.mit.edu	37	8	6873621	6873621	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:6873621C>T	ENST00000327857.2	-	3	267	c.176G>A	c.(175-177)gGc>gAc	p.G59D	DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1			defensin, alpha 3, neutrophil-specific											endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		TTTCCTTGAGCCTGGGACAGG	0.498000													33	86					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149755735	149755735	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149755735G>A	ENST00000451292.1	+	13	2092	c.1984G>A	c.(1984-1986)Ggc>Agc	p.G662S	TCOF1_ENST00000377797.3_Missense_Mutation_p.G662S|TCOF1_ENST00000323668.7_Missense_Mutation_p.G585S|TCOF1_ENST00000513346.1_Missense_Mutation_p.G662S|TCOF1_ENST00000394269.3_Missense_Mutation_p.G662S|TCOF1_ENST00000445265.2_Missense_Mutation_p.G585S|TCOF1_ENST00000439160.2_Missense_Mutation_p.G662S|TCOF1_ENST00000504761.2_Missense_Mutation_p.G662S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	662					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGCGAGTGGGCACCCAAGC	0.592000													5	179					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60775789	60775789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:60775789G>A	ENST00000370823.3	+	7	895	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	MTG2_ENST00000436421.2_Missense_Mutation_p.G135R|MTG2_ENST00000536470.1_Missense_Mutation_p.G65R	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		CAGGGGTCTGGGGTCCGCCTT	0.592000													31	171					0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74204586	74204586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:74204586C>T	ENST00000396467.1	-	3	196	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	RPL7_ENST00000352983.2_Missense_Mutation_p.E60K|RPL7_ENST00000396465.1_Missense_Mutation_p.E20K|RPL7_ENST00000396466.1_Missense_Mutation_p.E20K	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	60	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			TGCCTATATTCCTTGTGATAG	0.388000													25	34					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032698	99032698	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99032698G>A	ENST00000292478.4	-	2	418	c.168C>T	c.(166-168)ggC>ggT	p.G56G	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.G105G|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Silent_p.G105G	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GACGCTCCTGGCCGAGGGGCA	0.657000													15	47					0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639648	30639648	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:30639648C>T	ENST00000249075.3	-	3	756	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	201					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TGCTAGAAGGCCTGGGCCAAC	0.592000													6	106					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30545980	30545980	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30545980G>A	ENST00000326195.8	+	4	455		c.e4+1		ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Splice_Site	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1						inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GAGGATGAAGGTAAATGACCT	0.502000													12	59					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41055548	41055548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:41055548C>T	ENST00000324545.8	+	27	4655	c.4022C>T	c.(4021-4023)aCc>aTc	p.T1341I	USP9X_ENST00000378308.2_Missense_Mutation_p.T1341I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAATGTGCACCAGATGTTGC	0.348000													6	130					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686441	27686441	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27686441C>T	ENST00000493901.1	-	18	2466	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D743N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D735N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	743	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCGTTGTCCTTCAGGGGT	0.582000													15	49					0	0	1	0	0
AC009120.6	0	broad.mit.edu	37	16	74366554	74366554	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:74366554C>T	ENST00000561921.1	-	0	455																											ACGCTCATCTCCTGCAGGGAC	0.562000													3	23					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167498	24167498	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:24167498C>T	ENST00000344921.6	+	7	1116	c.909C>T	c.(907-909)gcC>gcT	p.A303A	SMARCB1_ENST00000407422.3_Silent_p.A285A|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000407082.3_Silent_p.A248A|SMARCB1_ENST00000263121.7_Silent_p.A294A			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	294	2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGAAGTTTGCCCTGAAGCTGT	0.557000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							15	63					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086526	39086526	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:39086526C>T	ENST00000609713.1	-	3	1523	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V312M	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTGGCTTCCACCATTCCTTCT	0.438000													11	95					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38774433	38774433	+	Silent	SNP	C	C	T	rs148132203		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38774433C>T	ENST00000301244.7	+	2	708	c.273C>T	c.(271-273)gtC>gtT	p.V91V	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Silent_p.V41V	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	91					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGCCACTGTCACAGGTGAGA	0.453000													25	35					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136740	40136740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:40136740C>T	ENST00000278198.2	-	2	3066	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.G368D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G368D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G368D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	368	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTGCCATGCCTTCAGTGAC	0.502000													6	155					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419213	123419213	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:123419213G>A	ENST00000360772.3	-	19	3480	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	MYLK_ENST00000360304.3_Silent_p.T1034T|MYLK_ENST00000475616.1_Silent_p.T1034T|MYLK_ENST00000359169.1_Silent_p.T1034T|MYLK_ENST00000346322.5_Silent_p.T965T			Q15746	MYLK_HUMAN	myosin light chain kinase	1034	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGGCTTCAGGGTCTCAGCAG	0.577000													13	166					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141554349	141554349	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:141554349G>A	ENST00000220592.5	-	14	1914	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	AGO2_ENST00000519980.1_Missense_Mutation_p.P601L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCCGGCGGGGGGGTGAGTGAC	0.652000													50	126					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285093	62285093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62285093C>T	ENST00000378024.4	-	5	17070	c.16796G>A	c.(16795-16797)gGa>gAa	p.G5599E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5599	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GACTTGGGGTCCCTTCCACTC	0.537000													59	108					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174668725	174668725	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:174668725C>T	ENST00000251507.4	+	16	2136	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	654	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTTTGAGAGACCTCTACAGAA	0.338000													5	77					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88055716	88055716	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:88055716G>A	ENST00000307808.6	+	19	3801	c.3381G>A	c.(3379-3381)ggG>ggA	p.G1127G	AFF1_ENST00000544085.1_Silent_p.G766G|AFF1_ENST00000395146.4_Silent_p.G1135G	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1127						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAGCAGTGGGGTGGCTGCCA	0.562000													14	245					0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887843	139887843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139887843G>A	ENST00000371620.3	+	5	496	c.470G>A	c.(469-471)gGg>gAg	p.G157E	C9orf142_ENST00000493968.1_3'UTR	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	157												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGCCTGCAGGGCCTCAGCTC	0.597000													9	12					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173853538	173853538	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173853538G>A	ENST00000264111.6	+	14	1529	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D296N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D449N|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D278N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D305N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D296N|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.D449N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D229N			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	449					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTAAGAGTAGACAAGGAGGA	0.443000													29	48					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178246	36178246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36178246G>A	ENST00000357641.6	+	6	2373	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	BRPF3_ENST00000534400.1_Missense_Mutation_p.G707D|BRPF3_ENST00000443324.2_Missense_Mutation_p.G707D|BRPF3_ENST00000534694.1_Missense_Mutation_p.G707D|BRPF3_ENST00000543502.1_Missense_Mutation_p.G707D|BRPF3_ENST00000339717.7_Missense_Mutation_p.G707D	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	707					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCGAGAGGGGCACTCACCTG	0.647000													23	36					0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179390524	179390524	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:179390524G>A	ENST00000521389.1	-	8	1606	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	RNF130_ENST00000522208.2_Intron|RNF130_ENST00000261947.4_Intron	NM_018434.4	NP_060904.2	Q86XS8	GOLI_HUMAN	ring finger protein 130	397					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGTGTGAGGGCACTGAGGA	0.438000													4	10					0	0	1	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128875727	128875727	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:128875727G>A	ENST00000418265.1	-	4	175	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	ISY1_ENST00000393292.3_Silent_p.L39L|ISY1_ENST00000393295.3_Silent_p.L39L|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Silent_p.L39L	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		39						catalytic step 2 spliceosome											GCTTTAGGCAGTTCAGTACAT	0.358000													19	33					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734050	92734050	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:92734050G>A	ENST00000379958.2	-	3	1630	c.1361C>T	c.(1360-1362)gCt>gTt	p.A454V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	454						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTTTGTAAGCTTTGACCAC	0.373000													31	89					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38080761	38080761	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38080761G>A	ENST00000308059.6	+	1	66	c.45G>A	c.(43-45)cgG>cgA	p.R15R	DLEC1_ENST00000452631.2_Silent_p.R15R|DLEC1_ENST00000346219.3_Silent_p.R15R			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	15					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TAGCGTCCCGGACCAACGAGT	0.647000													15	29					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466145	57466145	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:57466145G>A	ENST00000287169.3	+	11	2599	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.G360S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	413						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCCTACCTTTGGCAAAAGTTT	0.562000													5	73					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600157	161600157	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161600157C>T	ENST00000294800.3	-	2	335		c.e2+1		FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Splice_Site|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Splice_Site|FCGR3B_ENST00000367964.2_Splice_Site	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)						immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCTGACTCACCAGTCCGCAT	0.428000													3	35					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788813	5788813	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5788813G>A	ENST00000328090.5	+	15	4054	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1143																	CATTACAGAAGGAGACGCCCC	0.453000													42	118					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103299562	103299562	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103299562G>A	ENST00000376052.3	+	21	2512	c.2496G>A	c.(2494-2496)aaG>aaA	p.K832K	TPP2_ENST00000376065.4_Silent_p.K832K			P29144	TPP2_HUMAN	tripeptidyl peptidase II	832					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAGCCCAAGAGTGGGGAAG	0.313000													6	38					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28099831	28099831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:28099831C>T	ENST00000373943.4	+	1	138	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	5					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATACGGTCCCTTAGACAT	0.647000													5	9					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162564	103162564	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:103162564C>T	ENST00000424685.2	-	48	7732	c.7573G>A	c.(7573-7575)Gct>Act	p.A2525T	RELN_ENST00000343529.5_Missense_Mutation_p.A2525T|RELN_ENST00000428762.1_Missense_Mutation_p.A2525T			P78509	RELN_HUMAN	reelin	2525					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGATGGAGCTCGATTGAAG	0.547000													6	74					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691074	88691074	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88691074C>T	ENST00000301011.5	+	12	2163	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P679S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	655	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AACCACTGCTCCTGTCCCCGA	0.692000													5	21					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796920	209796920	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:209796920C>T	ENST00000391911.1	-	15	2677	c.2288G>A	c.(2287-2289)gGc>gAc	p.G763D	LAMB3_ENST00000367030.3_Missense_Mutation_p.G763D|LAMB3_ENST00000356082.4_Missense_Mutation_p.G763D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	763	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTTGGGGCTGCCGGTGCCTCC	0.642000													3	34					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13661331	13661331	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:13661331G>A	ENST00000404922.3	+	8	2274	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	FBLN2_ENST00000535798.1_Splice_Site_p.D745N|FBLN2_ENST00000492059.1_Splice_Site_p.D719N|FBLN2_ENST00000295760.7_Splice_Site_p.D719N	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	719	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTCCTGTGAAGGTGAGTGCCT	0.582000													10	19					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60312741	60312741	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:60312741C>T	ENST00000371208.3	+	10	1070	c.813C>T	c.(811-813)taC>taT	p.Y271Y	HOOK1_ENST00000395561.2_Silent_p.Y229Y|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	271	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AAGATGATTACCGTGTTCACT	0.333000													8	86					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043707	119043707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:119043707G>A	ENST00000334464.5	-	5	2776	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	846					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGGAACTGAGTATCCTGAAA	0.383000													29	13					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507899	144507899	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:144507899C>T	ENST00000367568.4	+	2	318	c.135C>T	c.(133-135)taC>taT	p.Y45Y		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	45					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		AGTCCCTGTACCGAGACATCC	0.602000									Familial Hemophagocytic Lymphohistiocytosis				11	25					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609735	117609735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:117609735C>T	ENST00000368508.3	-	43	7162	c.6964G>A	c.(6964-6966)Gct>Act	p.A2322T	ROS1_ENST00000368507.3_Missense_Mutation_p.A2316T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2322					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCAGTAAGCCACTTGTTTT	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	67					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7227490	7227490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7227490C>T	ENST00000399464.2	-	11	2014	c.1999G>A	c.(1999-2001)Ggc>Agc	p.G667S	NEURL4_ENST00000315614.7_Missense_Mutation_p.G667S|NEURL4_ENST00000570460.1_Missense_Mutation_p.G645S	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATAGACGCCCGGGGGCACG	0.677000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	82					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42143987	42143987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42143987C>T	ENST00000320955.6	-	63	10873	c.10646G>A	c.(10645-10647)gGc>gAc	p.G3549D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3549	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGCCTCCCGCCAGGCAGCAG	0.597000													4	37					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116073791	116073791	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:116073791C>T	ENST00000369271.3	-	7	931	c.631G>A	c.(631-633)Gac>Aac	p.D211N	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D264N|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D211N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	211	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGGCTGTGGTCCTTGGAGGAT	0.572000													4	61					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424069	89424069	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:89424069G>A	ENST00000532352.1	+	0	1532							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAATTCAGCGGCTATCCACTG	0.333000													20	49					0	0	1	0	0
WDR53	348793	broad.mit.edu	37	3	196288302	196288302	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196288302G>A	ENST00000332629.5	-	3	612	c.45C>T	c.(43-45)tgC>tgT	p.C15C	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	15										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTGCATTCAGGCAGAGGACAG	0.527000													5	33					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14716860	14716860	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:14716860G>A	ENST00000284268.6	-	9	1426	c.1096C>T	c.(1096-1098)Ctc>Ttc	p.L366F	ANKH_ENST00000535119.1_Missense_Mutation_p.L168F	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	366					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACAACACAGAGTTCTGCAAAG	0.428000													3	28					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25175624	25175624	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:25175624G>A	ENST00000409280.1	-	10	2048	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	C7orf31_ENST00000283905.3_Silent_p.F580F			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	580										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TATGGCCATAGAATTGGTGCT	0.358000													44	102					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818787	43818787	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:43818787G>A	ENST00000382031.1	+	5	5861	c.5830G>A	c.(5830-5832)Gtc>Atc	p.V1944I	MAP1A_ENST00000300231.5_Missense_Mutation_p.V1706I|MAP1A_ENST00000399453.1_Missense_Mutation_p.V1706I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1706						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAGCGGAAGGTCTGGTTCCC	0.572000													3	35					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156270	48156270	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:48156270C>T	ENST00000320031.8	+	19	2710	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	ITGA3_ENST00000007722.7_Missense_Mutation_p.P794S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	794					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGTAGGAAGCCCCCTCAAGTA	0.512000													31	81					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366319	40366319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40366319C>T	ENST00000221347.6	-	30	13922	c.13915G>A	c.(13915-13917)Gcc>Acc	p.A4639T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4639	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCCCTGGGCCCCGCCCACC	0.697000													24	40					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137407	202137407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:202137407G>A	ENST00000358485.4	+	4	831	c.635G>A	c.(634-636)gGa>gAa	p.G212E	CASP8_ENST00000392259.2_Missense_Mutation_p.G153E|CASP8_ENST00000432109.2_Missense_Mutation_p.G153E|CASP8_ENST00000392266.3_Missense_Mutation_p.G153E|CASP8_ENST00000264274.9_Missense_Mutation_p.G153E|CASP8_ENST00000264275.5_Missense_Mutation_p.G185E|CASP8_ENST00000392258.3_Missense_Mutation_p.G153E|CASP8_ENST00000323492.7_Missense_Mutation_p.G153E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	153					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTCATCCTGGGAGAAGGAAAG	0.423000										HNSCC(4;0.00038)			48	78					0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161192113	161192113	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161192113G>A	ENST00000594609.1	+	2	48	c.48G>A	c.(46-48)gaG>gaA	p.E16E	APOA2_ENST00000468465.1_3'UTR|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000464492.1_3'UTR|APOA2_ENST00000463812.1_3'UTR|APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000470459.2_3'UTR																							GTAGCAAAGAGTGGGTAGGGA	0.527000													5	56					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382335	76382335	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:76382335G>A	ENST00000357063.3	+	11	3332	c.2072G>A	c.(2071-2073)aGa>aAa	p.R691K	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Splice_Site_p.R406K|LMO7_ENST00000465261.2_Splice_Site_p.R406K|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Splice_Site_p.R691K			Q8WWI1	LMO7_HUMAN	LIM domain 7	691						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGGTGGAGAGGTCAGAGTGT	0.512000													6	17					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882029	228882029	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:228882029G>A	ENST00000392056.3	-	7	3587	c.3541C>T	c.(3541-3543)Ccc>Tcc	p.P1181S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1181S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1181						cytoplasm	protein binding	p.P1181S(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCTTAGAGGGACAGCTAGGC	0.542000													18	61					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420128	74420128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:74420128G>A	ENST00000377669.2	-	3	532	c.506C>T	c.(505-507)cCt>cTt	p.P169L	KLF12_ENST00000377666.4_Missense_Mutation_p.P169L|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	169					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGGACTTGAAGGCGGTACGGG	0.512000													8	52					0	0	1	0	0
PDHB	5162	broad.mit.edu	37	3	58415952	58415952	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:58415952C>T	ENST00000302746.6	-	7	645	c.603G>A	c.(601-603)gaG>gaA	p.E201E	PDHB_ENST00000474765.1_Silent_p.E183E|PDHB_ENST00000485460.1_Silent_p.E183E	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	201					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCAATTCATTCTCTAGCACCA	0.338000													14	40					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360069	16360069	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:16360069T>C	ENST00000354981.2	-	19	2735	c.2578A>G	c.(2578-2580)Atc>Gtc	p.I860V	KIF16B_ENST00000408042.1_Missense_Mutation_p.I860V|KIF16B_ENST00000355755.3_Missense_Mutation_p.I860V|KIF16B_ENST00000378003.2_Missense_Mutation_p.I86V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	860	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTCTAGGATCTCCTGTTCT	0.413000													61	125					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163188	49163188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49163188C>T	ENST00000418109.1	-	19	2644	c.2480G>A	c.(2479-2481)gGc>gAc	p.G827D	LAMB2_ENST00000305544.4_Missense_Mutation_p.G827D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	827	Laminin EGF-like 6.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTTGACAGCCTGTGGGGCC	0.577000													11	26					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42821381	42821381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42821381G>A	ENST00000314073.5	+	8	2127	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D651N					GLTSCR1-like									p.D651Y(1)									AATAGGGCAGGATTCTGGAAG	0.438000													21	39					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140280940	140280940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:140280940C>T	ENST00000296543.5	+	12	1624	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	NAA15_ENST00000398947.1_Missense_Mutation_p.A434V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	434					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGATGAGGCCCAGGCCTTG	0.403000													27	12					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75573286	75573286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75573286C>T	ENST00000238616.5	-	12	1605	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	483					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GAGACCTGCTCCACTGGATTG	0.507000													4	97					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98649033	98649033	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98649033G>A	ENST00000361125.1	-	8	1072	c.753C>T	c.(751-753)taC>taT	p.Y251Y	SMURF1_ENST00000361368.2_Silent_p.Y251Y	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	251	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TATGCAAAAAGTAAACTTGGC	0.473000													37	119					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582885	55582885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:55582885C>T	ENST00000361849.3	-	34	5001	c.4607G>A	c.(4606-4608)aGt>aAt	p.S1536N	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1511N|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1534N|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1494N|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1465N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1531N	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1534					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATACTTGACTTATGTTTTC	0.378000										HNSCC(58;0.16)			34	69					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145304627	145304627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:145304627G>A	ENST00000342960.5	+	10	1595	c.1560G>A	c.(1558-1560)tgG>tgA	p.W520*	NBPF10_ENST00000369338.1_Nonsense_Mutation_p.W249*|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Nonsense_Mutation_p.W249*	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	520										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGTTGAATGGGAGGATGCTG	0.433000													17	601					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49485588	49485588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49485588G>A	ENST00000323798.3	-	7	1182	c.986C>T	c.(985-987)gCc>gTc	p.A329V	GYS1_ENST00000541188.1_Missense_Mutation_p.A249V|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.P210S|GYS1_ENST00000263276.6_Missense_Mutation_p.A265V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	329					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATAGCGGCCGGCGATAAAGAA	0.557000													18	62					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105902118	105902118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105902118C>T	ENST00000357060.3	-	33	4307	c.4192G>A	c.(4192-4194)Gca>Aca	p.A1398T	WDR96_ENST00000428666.1_Missense_Mutation_p.A1370T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1398										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGAAAGTTGCCATTTCCAAT	0.398000													42	74					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28900110	28900110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28900110C>T	ENST00000395503.4	+	9	1115	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F	ATP2A1_ENST00000357084.3_Missense_Mutation_p.L311F|ATP2A1_ENST00000536376.1_Missense_Mutation_p.L186F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	311					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCCACAGGTCTTCCTGCAGT	0.607000													30	46					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18448159	18448159	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:18448159G>A	ENST00000377603.4	+	1	389	c.9G>A	c.(7-9)gaG>gaA	p.E3E	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	3					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						TCATGGCGGAGGTGAAGGTGA	0.632000													5	50					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94658867	94658867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:94658867G>A	ENST00000258526.4	+	21	3712	c.3463G>A	c.(3463-3465)Gag>Aag	p.E1155K	PLXNC1_ENST00000547057.1_Missense_Mutation_p.E202K|PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000545312.1_5'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1155					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGTCGGAGAGCCCTTCTA	0.423000													74	134					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63988591	63988591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:63988591G>A	ENST00000279227.5	+	13	1756	c.1661G>A	c.(1660-1662)gGc>gAc	p.G554D	FERMT3_ENST00000345728.5_Missense_Mutation_p.G550D	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	554	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCCGACTTCGGCATCTCCTAT	0.667000													29	54					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174763	150174763	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150174763C>T	ENST00000307271.3	+	5	2467	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	631						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGGGTGGTCCGGGTATCCCC	0.403000													6	138					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30975832	30975832	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:30975832G>A	ENST00000402281.1	-	14	1834	c.843C>T	c.(841-843)ccC>ccT	p.P281P	PES1_ENST00000402284.3_Silent_p.P403P|PES1_ENST00000405677.1_Silent_p.P281P|PES1_ENST00000335214.6_Silent_p.P415P|PES1_ENST00000354694.7_Silent_p.P420P	NM_001282327.1	NP_001269256.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	420					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						AAAGGTGTGGGGGCAGCTGCA	0.607000													6	78					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36259155	36259155	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:36259155C>T	ENST00000344691.4	-	1	1832	c.255G>A	c.(253-255)ctG>ctA	p.L85L	RUNX1_ENST00000437180.1_Silent_p.L112L|RUNX1_ENST00000300305.3_Silent_p.L112L|RUNX1_ENST00000358356.5_Silent_p.L85L|RUNX1_ENST00000399240.1_Silent_p.L85L|RUNX1_ENST00000325074.5_Silent_p.L100L|RUNX1_ENST00000486278.2_Silent_p.L88L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	85	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.V90_K117del(1)|p.L112fs*24(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AAGCGATGGGCAGGGTCTTGT	0.716000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								25	41					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891252	29891252	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29891252G>A	ENST00000308713.5	-	9	2033	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	SEZ6L2_ENST00000537485.1_Silent_p.P458P|SEZ6L2_ENST00000350527.3_Silent_p.P432P|SEZ6L2_ENST00000346932.5_Silent_p.P388P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	502	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCATTGGGGGGCCCAGGGG	0.607000													11	202					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34152949	34152949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34152949C>T	ENST00000257829.3	+	14	1597	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.S392F	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	464						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TATGAGGTTTCCCTCCAGGAG	0.458000													8	94					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394706	233394706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:233394706C>T	ENST00000258385.3	+	7	709	c.677C>T	c.(676-678)gCc>gTc	p.A226V	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.A211V|CHRND_ENST00000536614.1_Silent_p.S189S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	226					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GACCCCAGAGCCCCTCTGGAC	0.632000													21	45					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	124036911	124036911	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:124036911G>A	ENST00000306315.5	-	2	1393	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGAGGCGTGAGACTGCTGGAA	0.522000													4	54					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059195	42059195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42059195G>A	ENST00000219905.7	+	24	9096	c.8915G>A	c.(8914-8916)gGc>gAc	p.G2972D	MGA_ENST00000545763.1_Missense_Mutation_p.G2763D|MGA_ENST00000570161.1_Missense_Mutation_p.G2972D|MGA_ENST00000389936.4_Missense_Mutation_p.G2933D|MGA_ENST00000566586.1_Missense_Mutation_p.G2763D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2933						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATGAAGACTGGCTTGGAGAAC	0.502000													20	26					0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101907	46101907	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46101907C>T	ENST00000391617.1	-	1	171	c.132G>A	c.(130-132)gtG>gtA	p.V44V	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	44	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						CGGGCACACACACGGCTGGCT	0.682000													7	122					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044874	43044874	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:43044874C>T	ENST00000267890.6	-	14	2678	c.2570G>A	c.(2569-2571)aGa>aAa	p.R857K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	857					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTCAATGTCTCTGGAAGAAAT	0.378000													32	77					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925464	114925464	+	Silent	SNP	C	C	T	rs61724286		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:114925464C>T	ENST00000355995.4	+	15	2100	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	TCF7L2_ENST00000369397.4_Silent_p.T508T|TCF7L2_ENST00000542695.1_Silent_p.T247T|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.T514T|TCF7L2_ENST00000536810.1_Silent_p.T514T|TCF7L2_ENST00000545257.1_Silent_p.T531T|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000466338.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	531					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGAGCAGACCCAGCCTCTGT	0.662000			T	VTI1A	colorectal								9	95					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22924319	22924319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22924319C>T	ENST00000166244.3	+	11	2153	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	694	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCGACCATCCCAACATCATC	0.647000													24	53					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGTAGCCAAGGAGCTGGAGCT	0.507000													25	49					0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106830743	106830743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:106830743G>A	ENST00000222574.4	+	8	1234	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	HBP1_ENST00000461963.1_Intron|HBP1_ENST00000468410.1_Missense_Mutation_p.V350I|HBP1_ENST00000485846.1_Missense_Mutation_p.V350I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	350					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGATTCAGGTGTTTTTGATAC	0.358000													5	227					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812644	140812644	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140812644C>T	ENST00000252085.3	+	1	2460	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCCCAGCCCAACTATGCA	0.537000													15	211					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	978109	978109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:978109G>A	ENST00000537687.1	+	9	3860	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.A372T|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1158T	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	823					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACAGGGGGAGCAGCTGCACC	0.493000													11	350					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46554885	46554885	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:46554885T>C	ENST00000275016.2	-	10	1382	c.1179A>G	c.(1177-1179)gcA>gcG	p.A393A		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	393					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TCTCTAAATTTGCCTTTTTCC	0.398000													3	13					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45789686	45789686	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:45789686G>A	ENST00000357450.4	-	9	1372	c.1373C>T	c.(1372-1374)aCc>aTc	p.T458I	SMC1B_ENST00000404354.3_Missense_Mutation_p.T458I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	458					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCCACTAGGGTTTCCTCTTG	0.308000													7	42					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080128	171080128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:171080128C>T	ENST00000367755.4	+	6	928	c.817C>T	c.(817-819)Cct>Tct	p.P273S	FMO3_ENST00000392085.2_Missense_Mutation_p.P273S|FMO3_ENST00000542847.1_Missense_Mutation_p.P253S|FMO3_ENST00000538429.1_Missense_Mutation_p.P210S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	273					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCTTGATGCCTTTAAATGG	0.418000													27	59					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740466	44740466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44740466G>A	ENST00000313040.7	+	6	2088	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.G577E|ZNF227_ENST00000391961.2_Missense_Mutation_p.G577E	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GTCCATACTGGAGAGAAGCCA	0.463000													6	92					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407635	38407635	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:38407635G>A	ENST00000361085.5	+	7	1901	c.1556G>A	c.(1555-1557)gGg>gAg	p.G519E	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G519E	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACACACACAGGGGAGAAACCC	0.358000													18	21					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74335461	74335461	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74335461C>T	ENST00000565898.1	+	7	1782	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D	PML_ENST00000395135.3_Silent_p.D614D|PML_ENST00000359928.4_3'UTR|PML_ENST00000569965.1_3'UTR|PML_ENST00000564428.1_Silent_p.D566D|PML_ENST00000268058.3_Silent_p.D614D			P29590	PML_HUMAN	promyelocytic leukemia	614					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTTTCTTTGACCTCAAGATTG	0.542000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	90					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33026433	33026433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33026433C>T	ENST00000374864.4	+	8	889	c.676C>T	c.(676-678)Cca>Tca	p.P226S	ITCH_ENST00000535650.1_Missense_Mutation_p.P116S|ITCH_ENST00000262650.6_Missense_Mutation_p.P267S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	267					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CCCACGTAGACCAGGTTTGTA	0.438000													23	66					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47840985	47840985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47840985C>T	ENST00000378460.2	-	10	1349	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	NUP160_ENST00000530326.1_Missense_Mutation_p.V321I|NUP160_ENST00000528071.1_Missense_Mutation_p.V321I|NUP160_ENST00000528501.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	435					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGCATAAAAACTGGATTCCAC	0.383000													7	128					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647968	56647968	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56647968G>A	ENST00000267116.7	-	8	910	c.789C>T	c.(787-789)gcC>gcT	p.A263A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	263							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTTGACATTGGCTCCGGCAT	0.542000													41	97					0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74562687	74562687	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:74562687G>A	ENST00000555028.1	+	3	310	c.143G>A	c.(142-144)aGt>aAt	p.S48N	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	48										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		TCCTTCAAAAGTGTAAGTAAT	0.328000													8	17					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882109	43882109	+	Silent	SNP	C	C	T	rs141846469		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:43882109C>T	ENST00000443950.2	-	3	1710	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	HNRNPF_ENST00000337970.3_Silent_p.Q408Q|HNRNPF_ENST00000356053.3_Silent_p.Q408Q|HNRNPF_ENST00000544000.1_Silent_p.Q408Q|HNRNPF_ENST00000357065.4_Silent_p.Q408Q	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	408					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCATGCTGTTCTGCCCACTGT	0.502000													8	155					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265260	42265260	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42265260C>T	ENST00000199764.6	+	3	746	c.528C>T	c.(526-528)taC>taT	p.Y176Y	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	176	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACACAACCTACCTGTGGTGGG	0.562000													80	145					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76623876	76623876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:76623876C>T	ENST00000369981.3	+	34	3818	c.3539C>T	c.(3538-3540)gCc>gTc	p.A1180V	MYO6_ENST00000369985.4_Missense_Mutation_p.A1156V|MYO6_ENST00000369977.3_Missense_Mutation_p.A1179V|MYO6_ENST00000369975.1_Missense_Mutation_p.A1147V			Q9UM54	MYO6_HUMAN	myosin VI	1188					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATCCGCCCTGCCGACCAGTAC	0.522000													38	100					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67263655	67263655	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:67263655G>A	ENST00000356404.3	-	15	2536	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L	PITPNM1_ENST00000534749.1_Silent_p.L771L|PITPNM1_ENST00000436757.2_Silent_p.L770L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	771	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTACCCAGCAGCAGGGATGAG	0.632000													11	22					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48672966	48672966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48672966G>A	ENST00000334136.5	+	11	1104	c.926G>A	c.(925-927)tGg>tAg	p.W309*	HDAC6_ENST00000376619.2_Nonsense_Mutation_p.W309*|HDAC6_ENST00000444343.2_Nonsense_Mutation_p.W323*|HDAC6_ENST00000413163.2_Nonsense_Mutation_p.W254*			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	309	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATGTGCCTTGGAACCAGGTC	0.607000													14	28					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102323223	102323223	+	Splice_Site	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102323223G>T	ENST00000422945.2	+	4	483		c.e4+1		PPP2R5C_ENST00000334743.5_Splice_Site|PPP2R5C_ENST00000445439.3_Splice_Site|PPP2R5C_ENST00000350249.3_Splice_Site|PPP2R5C_ENST00000328724.5_Splice_Site|PPP2R5C_ENST00000557095.1_Splice_Site	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma						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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTCCATATGGTAAGTGATTA	0.418000													23	38					1.87028e-06	1.87597e-06	1	1	0
CLPTM1	1209	broad.mit.edu	37	19	45493688	45493688	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45493688G>A	ENST00000541297.2	+	10	1591	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	CLPTM1_ENST00000546079.1_Missense_Mutation_p.G288S|CLPTM1_ENST00000337392.5_Missense_Mutation_p.G390S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	390					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GTCCCTGGAGGGCCTGTCCGT	0.612000													10	200					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145788507	145788507	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:145788507G>A	ENST00000282903.5	-	20	2451	c.2274C>T	c.(2272-2274)ccC>ccT	p.P758P	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.P703P|PLOD2_ENST00000461497.1_Silent_p.P418P|PLOD2_ENST00000360060.3_Silent_p.P737P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	737					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AAATAACTTAGGGATCTATAA	0.368000													14	9					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645350	167645350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:167645350C>T	ENST00000519204.1	+	22	4209	c.4091C>T	c.(4090-4092)aCt>aTt	p.T1364I	TENM2_ENST00000520394.1_Missense_Mutation_p.T1246I|TENM2_ENST00000518659.1_Missense_Mutation_p.T1485I|TENM2_ENST00000545108.1_Missense_Mutation_p.T1484I|TENM2_ENST00000403607.2_Missense_Mutation_p.T1309I					teneurin transmembrane protein 2																		ATTTCTCACACTGGGGTCCTC	0.537000													31	28					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22117214	22117214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:22117214C>T	ENST00000379374.4	+	9	1589	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	PHEX_ENST00000535894.1_Missense_Mutation_p.R245C|PHEX_ENST00000418858.3_Missense_Mutation_p.R45C|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.R342C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	342					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.R342C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGTGGTGGTCCGCGTCCCGCA	0.453000													8	113					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132274510	132274510	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:132274510C>T	ENST00000438378.2	+	0	1552					NR_026922.1																						ACTCCCAGCCCCGGTGTGTGT	0.637000													13	34					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101877407	101877407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101877407C>T	ENST00000360264.3	+	22	3562	c.3542C>T	c.(3541-3543)cCc>cTc	p.P1181L	CUX1_ENST00000546411.2_Missense_Mutation_p.P1068L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P1148L|CUX1_ENST00000292535.7_Missense_Mutation_p.P1170L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P1012L|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P1114L|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1170					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCCCCAAACCCTGGCATAAG	0.552000													21	65					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87590975	87590975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:87590975C>T	ENST00000320005.5	-	17	2092	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	682					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTTCCTGTGCCTCCTAGGAG	0.493000													26	57					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049461	161049461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161049461C>T	ENST00000368012.3	-	2	660	c.358G>A	c.(358-360)Gcg>Acg	p.A120T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	120	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCTCATCCGCCTGCACTGCG	0.716000													5	42					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77908932	77908932	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:77908932C>T	ENST00000553888.1	-	10	1215	c.705G>A	c.(703-705)ggG>ggA	p.G235G	VIPAS39_ENST00000556412.1_Silent_p.G261G|VIPAS39_ENST00000343765.2_Silent_p.G235G|VIPAS39_ENST00000557658.1_Silent_p.G235G|VIPAS39_ENST00000448935.2_Silent_p.G186G|VIPAS39_ENST00000327028.4_Silent_p.G222G	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		ACTTTTGATCCCCTATTTCCT	0.428000													12	152					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786411	19786411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19786411C>T	ENST00000341998.2	-	1	515	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.V152I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	152					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCATCACAGACAATGGCTAAG	0.458000													9	87					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161139493	161139493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161139493G>A	ENST00000367999.4	+	8	1117	c.851G>A	c.(850-852)aGt>aAt	p.S284N	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.S284N|PPOX_ENST00000432542.2_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	284					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACGTTATTAGTGCCATTCCA	0.478000													25	43					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868719	201868719	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201868719C>T	ENST00000367288.4	-	2	1668	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	474					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTTGTCTCTGCTTGTCCA	0.582000													5	15					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278961	50278961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50278961G>A	ENST00000216268.5	+	2	2128	c.1651G>A	c.(1651-1653)Gtt>Att	p.V551I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAACAATCAAGTTATGTTTCC	0.448000													4	106					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	407964	407964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:407964C>T	ENST00000356286.5	+	9	1742	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	RBCK1_ENST00000353660.3_Missense_Mutation_p.T304I|RBCK1_ENST00000382181.2_Missense_Mutation_p.T176I	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	346					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAGCTCCTGACCCCTGAGGAT	0.532000													11	22					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82875333	82875333	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:82875333C>T	ENST00000298281.4	+	4	1044	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	198					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACAAAAGAATCTTACACAAGA	0.428000													3	23					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633871	32633871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:32633871C>T	ENST00000242310.4	-	1	1796	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	569					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTGTGGTTCCTCCCTGATGA	0.488000													90	196					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594323	111594323	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:111594323C>T	ENST00000304987.3	+	15	2424	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	751					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AAGTCAGCAGCTGCCCCTTCC	0.602000													67	96					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138463490	138463490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:138463490C>T	ENST00000394817.2	-	2	182	c.43G>A	c.(43-45)Ggc>Agc	p.G15S	SIL1_ENST00000509534.1_Missense_Mutation_p.G23S|SIL1_ENST00000265195.5_Missense_Mutation_p.G15S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	15	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCAGCATGCCCAGAGGAGCC	0.517000									Marinesco-Sjgren syndrome				6	6					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81577172	81577172	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:81577172G>A	ENST00000327835.3	-	6	1036	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	269						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTGGGATGGGGAAAGTAGGA	0.572000													14	69					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137666723	137666723	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:137666723G>A	ENST00000371817.3	+	27	2764	c.2350G>A	c.(2350-2352)Ggt>Agt	p.G784S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	784	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGCCCCCAGGGTCCGATTGG	0.602000													4	9					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684765	80684765	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80684765G>A	ENST00000269373.6	+	6	721	c.648G>A	c.(646-648)ggG>ggA	p.G216G	FN3KRP_ENST00000535965.1_Silent_p.G166G	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	216							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TACTCCACGGGGACCTCTGGG	0.537000													10	94					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997246	61997246	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:61997246C>T	ENST00000332981.5	+	12	2079	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.P70S|PRKCH_ENST00000555082.1_Missense_Mutation_p.A404V	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	565	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCTTTGAGGCCATACTGAAT	0.517000													5	73					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197168712	197168712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:197168712G>A	ENST00000367405.4	-	1	960	c.892C>T	c.(892-894)Cct>Tct	p.P298S	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCACTTCCAGGGTCCTCAGAA	0.388000													5	97					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112506746	112506746	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112506746G>A	ENST00000261745.4	-	11	1335	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	363						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAACAACAAGGTTTATCGCCA	0.378000													27	54					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38610910	38610910	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:38610910G>A	ENST00000288304.5	-	3	868	c.76C>T	c.(76-78)Cct>Tct	p.P26S	DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Splice_Site_p.P68S|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000398998.1_Splice_Site_p.P20S|DSCR3_ENST00000309117.6_Splice_Site_p.P68S			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	68					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ATCTGGATAGGCTGTAAACAA	0.453000													6	117					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39479873	39479873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:39479873G>A	ENST00000407997.3	+	5	1076	c.719G>A	c.(718-720)gGc>gAc	p.G240D	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.G240D	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CAGCGCAGGGGCTTTCTATGC	0.587000													11	30					0	0	1	0	0
POLE2	5427	broad.mit.edu	37	14	50117063	50117063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:50117063G>A	ENST00000539565.2	-	16	1557	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	POLE2_ENST00000554396.1_Missense_Mutation_p.P473S|POLE2_ENST00000216367.5_Missense_Mutation_p.P473S|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	473					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCGGGCACAGGATACACTCTC	0.413000													5	91					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5322673	5322673	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5322673C>T	ENST00000573584.1	-	1	807		c.e1+1			NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGGCATTACCTGGTACTGG	0.582000													4	35					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659421	152659421	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152659421C>T	ENST00000368780.3	+	2	156	c.102C>T	c.(100-102)ccC>ccT	p.P34P	LCE2B_ENST00000417924.2_Silent_p.P34P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	34	Cys-rich.|Pro-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGCCTGCCCCAGTGCCCAG	0.607000													88	124					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370888	240370888	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:240370888C>T	ENST00000319653.9	+	5	3006	c.2776C>T	c.(2776-2778)Cta>Tta	p.L926L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	926	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGCCGCCTCTACCCGGAGC	0.672000													7	32					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27424533	27424533	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27424533C>T	ENST00000310574.3	-	14	2018		c.e14+1		SLC5A6_ENST00000461319.1_Splice_Site|SLC5A6_ENST00000408041.1_Splice_Site	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6						biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCCTGCCTTACTTGGAGAAGG	0.552000													3	25					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114942100	114942100	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114942100C>T	ENST00000358465.2	-	18	3182	c.3099G>A	c.(3097-3099)aaG>aaA	p.K1033K	TRIM33_ENST00000450349.2_Silent_p.K665K|TRIM33_ENST00000369543.2_Silent_p.K1033K	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1033	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCACAGTTCTTGAAGATCA	0.358000			T	RET	papillary thyroid								34	56					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880229	121880229	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:121880229G>A	ENST00000377069.4	-	18	3214	c.2808C>T	c.(2806-2808)ccC>ccT	p.P936P	KDM2B_ENST00000377071.4_Silent_p.P1005P|KDM2B_ENST00000542973.1_Silent_p.P373P|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1005					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGCTCCCGGGGGGTGCCGT	0.726000													10	12					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38882320	38882320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:38882320C>T	ENST00000396821.3	-	13	1915	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	DDX17_ENST00000381633.3_Missense_Mutation_p.D527N|DDX17_ENST00000444597.1_Missense_Mutation_p.D56N	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	525					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCACTACGATCCCGATAGCTT	0.498000													32	72					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556105	29556105	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:29556105C>T	ENST00000383640.2	+	1	423	c.384C>T	c.(382-384)ctC>ctT	p.L128L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	128					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCCAGCCCCTCCACTATGCCA	0.587000													49	64					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573233	25573233	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:25573233G>A	ENST00000243189.7	-	2	498	c.222C>T	c.(220-222)taC>taT	p.Y74Y	C1orf63_ENST00000431849.2_Silent_p.Y74Y|C1orf63_ENST00000417642.2_Silent_p.Y67Y	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	74	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTAGCGCCTGTACTTCCGCT	0.652000													5	81					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11781994	11781994	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:11781994A>G	ENST00000337339.2	+	8	872	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	MSL3_ENST00000380693.3_Missense_Mutation_p.Y116C|MSL3_ENST00000361672.2_Missense_Mutation_p.Y133C|MSL3_ENST00000398527.2_Missense_Mutation_p.Y270C|MSL3_ENST00000312196.4_Missense_Mutation_p.Y282C	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	282					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CAAGCTCAGTATAAAAAGGTG	0.393000													6	118					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122927013	122927013	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:122927013C>T	ENST00000395412.1	+	10	1710	c.991C>T	c.(991-993)Cct>Tct	p.P331S	CSNK1G3_ENST00000395411.1_Splice_Site_p.P331S|CSNK1G3_ENST00000511130.2_Splice_Site_p.P219S|CSNK1G3_ENST00000512718.3_Splice_Site_p.P256S|CSNK1G3_ENST00000510842.2_Splice_Site_p.P332S|CSNK1G3_ENST00000521364.1_Splice_Site_p.P331S|CSNK1G3_ENST00000361991.2_Splice_Site_p.P331S|CSNK1G3_ENST00000360683.2_Splice_Site_p.P331S|CSNK1G3_ENST00000345990.4_Splice_Site_p.P331S			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	331					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TGTATTGTAGCCTACTCCAGT	0.338000													19	57					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72352694	72352694	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:72352694C>T	ENST00000340595.3	+	12	1997	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	SLC4A4_ENST00000264485.5_Silent_p.L645L|SLC4A4_ENST00000351898.6_Silent_p.L645L|SLC4A4_ENST00000425175.1_Silent_p.L645L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	645						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGACACCACACTGGCCCCAGA	0.299000													67	91					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868055	23868055	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23868055G>A	ENST00000405093.3	-	15	1843	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	MYH6_ENST00000356287.3_Silent_p.I591I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	591	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCAGCCCAGGATGTTGTAGT	0.542000													32	47					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33870345	33870345	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:33870345G>A	ENST00000457054.2	+	7	888	c.733G>A	c.(733-735)Gag>Aag	p.E245K	PDCD6IP_ENST00000307296.3_Splice_Site_p.E240K	NM_001162429.2|NM_013374.5	NP_001155901.1|NP_037506.2	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	240	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTATTTCCAGGAGGTGTTCCC	0.448000													31	43					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45646165	45646165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45646165G>A	ENST00000267430.5	+	14	4293	c.4208G>A	c.(4207-4209)tGt>tAt	p.C1403Y	FANCM_ENST00000542564.2_Missense_Mutation_p.C1377Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1403					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CATAAATCCTGTCATTCTGTT	0.284000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	38					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116427450	116427450	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:116427450G>A	ENST00000319550.4	+	2	219	c.137G>A	c.(136-138)gGg>gAg	p.G46E		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	46							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAGGAGAAAGGGTACGATAAG	0.343000													4	63					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048882	50048882	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:50048882G>A	ENST00000371564.3	-	9	2663	c.2444C>T	c.(2443-2445)cCc>cTc	p.P815L	NFATC2_ENST00000610033.1_Missense_Mutation_p.P596L|NFATC2_ENST00000609943.1_Missense_Mutation_p.P795L|NFATC2_ENST00000609507.1_Missense_Mutation_p.P596L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P795L|NFATC2_ENST00000396009.3_Missense_Mutation_p.P815L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	815					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGGTTGGTGGGTGAGTAGTG	0.662000													4	80					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29118938	29118938	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:29118938C>T	ENST00000261590.8	+	12	2085	c.1876C>T	c.(1876-1878)Cta>Tta	p.L626L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	626					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCTGCTCCTGCTATGTAAGTC	0.488000													23	61					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142273811	142273811	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:142273811C>T	ENST00000378004.3	+	6	850	c.495C>T	c.(493-495)agC>agT	p.S165S	ARHGAP26_ENST00000274498.4_Silent_p.S165S	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	165					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCAGACAGCCAAGTGGACC	0.433000													13	25					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102337	81102337	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:81102337C>T	ENST00000228641.3	+	2	776	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	185					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACCTGCAGCTCCCAGTGGCCA	0.572000													33	54					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770800	43770800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43770800C>T	ENST00000372476.3	+	2	416	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	TIE1_ENST00000441333.2_Missense_Mutation_p.R113C|TIE1_ENST00000538015.1_Missense_Mutation_p.R113C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	113					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGCGCGGCGCACGCGCGT	0.701000													12	18					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569283	129569283	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:129569283G>A	ENST00000389441.4	-	1	1262	c.22C>T	c.(22-24)Cct>Tct	p.P8S	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGGGAAAGGTGAGCTTTCA	0.527000													7	27					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089555	42089555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:42089555G>A	ENST00000244020.3	+	6	993	c.887G>A	c.(886-888)aGg>aAg	p.R296K		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	296	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCCAGATCAAGGAGCCAGTCC	0.488000													4	64					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39340782G>A	ENST00000454994.2	-	2	1265	c.989C>T	c.(988-990)tCt>tTt	p.S330F	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S330F|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.S330F			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313000													8	52					0	0	1	0	0
CRYGN	155051	broad.mit.edu	37	7	151135166	151135166	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151135166G>A	ENST00000337323.2	-	2	312	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Silent_p.F62F	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	62	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCAAGATGAACTGCTGGC	0.612000													22	55					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134251885	134251885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:134251885C>T	ENST00000524765.1	-	5	5496	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	B3GAT1_ENST00000312527.4_Missense_Mutation_p.V318M|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V331M|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V318M			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	318					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TTCACCAGCACTGGCTTCTCT	0.602000													10	55					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370754	20370754	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20370754G>A	ENST00000302451.4	-	12	1890	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	548					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GGCTCTTCCAGCTTGGATACG	0.512000													13	172					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887324	3887324	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:3887324C>T	ENST00000319331.3	+	2	1760	c.999C>T	c.(997-999)ttC>ttT	p.F333F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	333						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCTTGGCTTTCCGAAGTGTCC	0.488000													3	33					0	0	1	0	0
KIAA0101	9768	broad.mit.edu	37	15	64668976	64668976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64668976C>T	ENST00000300035.4	-	3	394	c.256G>A	c.(256-258)Gca>Aca	p.A86T	KIAA0101_ENST00000559519.1_Missense_Mutation_p.A59T|KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000558008.1_Missense_Mutation_p.A86T	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	86						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CTGCTTCCTGCCTCTTCAGGA	0.403000													32	57					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118599659	118599659	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:118599659C>T	ENST00000392533.3	-	18	2563	c.2073G>A	c.(2071-2073)aaG>aaA	p.K691K	TAOK3_ENST00000419821.2_Silent_p.K691K|TAOK3_ENST00000537952.1_Silent_p.K231K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	691					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCTCGCCTCTTATTGTACT	0.478000													52	116					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67017925	67017925	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:67017925C>T	ENST00000340001.4	-	18	2570	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ABCA9_ENST00000453985.2_Missense_Mutation_p.V787M|ABCA9_ENST00000370732.2_Missense_Mutation_p.V787M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	787					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCAGAAACACCTCATTCAAA	0.338000													25	106					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60967479	60967479	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:60967479G>A	ENST00000279101.5	-	8	1065	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	353					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTGACATGGGGGAACTTCTCC	0.547000													12	149					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74657154	74657154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74657154C>T	ENST00000305557.5	-	7	1102	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	RTKN_ENST00000233330.6_Missense_Mutation_p.G136R|RTKN_ENST00000272430.5_Missense_Mutation_p.G186R	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	186					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AAGTCTGGCCCCGCCTCAGCG	0.622000													15	37					0	0	1	0	0
LINC00886	730091	broad.mit.edu	37	3	156528071	156528071	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:156528071C>T	ENST00000472943.1	-	0	148					NR_038387.1																						AGGGCAGCTTCAGCACAAAGG	0.483000													5	66					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93180218	93180218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:93180218C>T	ENST00000393218.2	-	8	830	c.493G>A	c.(493-495)Gac>Aac	p.D165N	LGMN_ENST00000334869.4_Missense_Mutation_p.D165N|LGMN_ENST00000557434.1_Missense_Mutation_p.D165N|LGMN_ENST00000555699.1_Missense_Mutation_p.D165N	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	165					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCATTCAGGTCCTTTACATGA	0.443000													14	63					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476715	42476715	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42476715G>A	ENST00000434000.1	-	9	2778	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	GPATCH8_ENST00000591680.1_Silent_p.D910D			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	910	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGTCATCTGAGTCATGGGAGC	0.488000													20	73					0	0	1	0	0
OR4F5	79501	broad.mit.edu	37	1	69617	69617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:69617G>A	ENST00000335137.3	+	1	527	c.527G>A	c.(526-528)aGg>aAg	p.R176K		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCTTCCTAGGGTAATCAAA	0.443000													80	261					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100844059	100844059	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100844059G>A	ENST00000223114.4	-	1	243	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MOGAT3_ENST00000440203.2_Missense_Mutation_p.A26V|MOGAT3_ENST00000379423.3_Missense_Mutation_p.A26V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	26					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ATATTGGTAGGCGCCCACTGC	0.592000													12	40					0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694793	39694793	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39694793C>T	ENST00000318438.6	-	1	113	c.102G>A	c.(100-102)ggG>ggA	p.G34G		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	34					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AAGTGCGCGTCCCGTCCGAGT	0.711000													19	28					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65300340	65300340	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:65300340C>T	ENST00000342505.4	-	25	3618	c.3370G>A	c.(3370-3372)Gtt>Att	p.V1124I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1124	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGTTGATAAACCTGTAAAAAG	0.308000			Mis		ALL								12	53					0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70836516	70836516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70836516G>A	ENST00000373691.4	-	2	1110	c.947C>T	c.(946-948)aCc>aTc	p.T316I	CXCR3_ENST00000373693.3_Missense_Mutation_p.T269I	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	269					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GTGATAGGGGGTCCAGCAGAG	0.672000													19	22					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70294990	70294990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70294990C>T	ENST00000261772.8	-	13	1885	c.1742G>A	c.(1741-1743)gGt>gAt	p.G581D	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	581					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTTCAGGTCACCGTAGATGGT	0.468000													11	58					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57802067	57802067	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:57802067G>A	ENST00000360338.3	+	3	480	c.158G>A	c.(157-159)gGt>gAt	p.G53D	ZNF460_ENST00000537645.1_Splice_Site_p.G12D	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCCCTTCAGGTGACAGCACA	0.433000													14	35					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188335	7188335	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:7188335C>T	ENST00000486284.1	+	2	990	c.716C>T	c.(715-717)aCg>aTg	p.T239M	GRM7_ENST00000402647.2_Missense_Mutation_p.T239M|GRM7_ENST00000357716.4_Missense_Mutation_p.T239M|GRM7_ENST00000403881.1_Missense_Mutation_p.T239M|GRM7_ENST00000389336.4_Missense_Mutation_p.T239M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	239					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAGTCCTTCACGCAGATTTCC	0.473000													5	41					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934884	119934884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:119934884C>T	ENST00000361035.4	+	7	1245	c.962C>T	c.(961-963)gCc>gTc	p.A321V	HAO2_ENST00000325945.3_Missense_Mutation_p.A308V			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	308	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGGGGCCTTGCCTGCAAGGTG	0.488000													12	27					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745687	54745687	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54745687G>A	ENST00000440558.2	-	4	471	c.423C>T	c.(421-423)acC>acT	p.T141T	LILRA6_ENST00000245621.5_Silent_p.T141T|LILRA6_ENST00000396365.2_Silent_p.T141T|LILRA6_ENST00000419410.2_Silent_p.T141T|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Silent_p.T141T|LILRA6_ENST00000270464.5_Silent_p.T141T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACATCGGAGGGTCATATTCC	0.562000													13	154					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583254	135583254	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:135583254C>T	ENST00000513104.1	-	7	2031	c.1749G>A	c.(1747-1749)atG>atA	p.M583I	TRPC7_ENST00000426057.2_Missense_Mutation_p.M467I|TRPC7_ENST00000355180.3_Missense_Mutation_p.M522I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	583					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAAAATGACCATGAACTTGA	0.463000													12	98					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11034849	11034849	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:11034849C>T	ENST00000428168.2	-	4	523	c.486G>A	c.(484-486)ggG>ggA	p.G162G	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	162						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGGAGACTGCCCCTGTGGAG	0.557000													42	70					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79974874	79974874	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:79974874G>A	ENST00000265081.6	+	8	1382	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	434					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCTTGTCCGAGCAAACAGAGG	0.478000								Mismatch excision repair (MMR)					13	188					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53701278	53701278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53701278G>A	ENST00000209873.4	-	16	1801	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	AAAS_ENST00000550286.1_Missense_Mutation_p.L422F|AAAS_ENST00000394384.3_Missense_Mutation_p.L513F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	546					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TATTCTTAGAGGTGGGAATGT	0.517000													7	11					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162815	91162815	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91162815C>T	ENST00000546318.1	+	2	1977	c.690C>T	c.(688-690)taC>taT	p.Y230Y	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.Y261Y	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	261					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CCAAGTTTTACCGAAGAAAAG	0.438000													9	160					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113740519	113740519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:113740519G>A	ENST00000397030.1	+	21	2465	c.2428G>A	c.(2428-2430)Gcc>Acc	p.A810T	MCF2L_ENST00000375597.4_Missense_Mutation_p.A775T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A775T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A834T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A807T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A783T|MCF2L_ENST00000535094.2_Missense_Mutation_p.A777T|MCF2L_ENST00000375608.3_Missense_Mutation_p.A807T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A781T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A781T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	807	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CATCCTGAAGGCCGTGAACGA	0.622000													7	46					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216830	3216830	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:3216830C>T	ENST00000602557.1	-	22	3706	c.3151G>A	c.(3151-3153)Gtc>Atc	p.V1051I	CSMD1_ENST00000542608.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000520002.1_Missense_Mutation_p.V1051I|CSMD1_ENST00000537824.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000539096.1_Missense_Mutation_p.V1050I|CSMD1_ENST00000602723.1_Missense_Mutation_p.V1051I|CSMD1_ENST00000400186.3_Missense_Mutation_p.V1051I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1051	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGGCAGGGACTCCAGGATCA	0.458000													11	27					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56719898	56719898	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:56719898G>A	ENST00000537232.1	+	11	1295	c.834G>A	c.(832-834)aaG>aaA	p.K278K	TEX9_ENST00000352903.2_Silent_p.K353K|TEX9_ENST00000560582.1_Intron|MNS1_ENST00000566386.1_Intron			Q8N6V9	TEX9_HUMAN	testis expressed 9	353										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TAGGGTTCAAGAAACAGTTAA	0.249000													11	162					0	0	1	0	0
NBR2	10230	broad.mit.edu	37	17	41290861	41290861	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:41290861G>A	ENST00000460115.1	+	0	412					NR_003108.1																						caccagcctggggaccgtggg	0.577000													25	31					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269000													4	88					2.56e-06	2.56623e-06	1	1	0
PRSS37	136242	broad.mit.edu	37	7	141536967	141536967	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141536967C>T	ENST00000350549.3	-	4	883	c.512G>A	c.(511-513)aGc>aAc	p.S171N	PRSS37_ENST00000438520.1_Missense_Mutation_p.S171N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	171	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ATTCCTGTGGCTTTTTCCTTG	0.453000													19	83					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225684176	225684176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:225684176G>A	ENST00000409592.3	-	29	3349	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1085F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1085							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGGTCACCGGAGGAGAACAT	0.363000													14	40					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4800051	4800051	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4800051G>A	ENST00000355280.6	+	31	4054	c.3858G>A	c.(3856-3858)ggG>ggA	p.G1286G	MINK1_ENST00000347992.7_Silent_p.G1257G|MINK1_ENST00000453408.3_Silent_p.G1266G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1286	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTCGACGGGGTCTTCATGC	0.587000													7	21					0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36088630	36088630	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:36088630G>A	ENST00000360731.3	+	7	1965	c.1965G>A	c.(1963-1965)aaG>aaA	p.K655K	CLIC6_ENST00000349499.2_Silent_p.K637K			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	655	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTGTGGCCAAGAAGTACAGAG	0.403000													5	79					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47866996	47866996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:47866996C>T	ENST00000289672.2	-	45	6856	c.6806G>A	c.(6805-6807)gGc>gAc	p.G2269D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2269					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGTCTGGTGCCCCTCAGCTG	0.652000													4	42					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20225409	20225409	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:20225409C>T	ENST00000412997.1	-	2	462	c.111G>A	c.(109-111)agG>agA	p.R37R	SGOL1_ENST00000425061.1_Silent_p.R37R|SGOL1_ENST00000417364.1_Silent_p.R37R|SGOL1_ENST00000421451.1_Silent_p.R37R|SGOL1_ENST00000263753.4_Silent_p.R37R|SGOL1_ENST00000306698.2_Silent_p.R37R|SGOL1_ENST00000437051.1_Silent_p.R37R|SGOL1_ENST00000452020.1_Silent_p.R37R|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Silent_p.R37R|SGOL1_ENST00000419233.2_Silent_p.R37R|SGOL1_ENST00000412868.1_Silent_p.R37R|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Silent_p.R37R|SGOL1_ENST00000429446.3_Silent_p.R37R|SGOL1_ENST00000442720.1_Silent_p.R37R	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	37	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CTATAAAAGACCTGCGTTTGC	0.308000													33	60					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118078	34118078	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34118078C>T	ENST00000341394.4	+	16	1947	c.1758C>T	c.(1756-1758)aaC>aaT	p.N586N	CAPRIN1_ENST00000530820.1_Silent_p.N586N|CAPRIN1_ENST00000529307.1_Silent_p.N505N|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Silent_p.N586N|CAPRIN1_ENST00000532820.1_Silent_p.N586N	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	586					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TGACTGGTAACCACCAGCAGC	0.468000													34	91					0	0	1	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122373	43122373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:43122373C>T	ENST00000344697.2	-	2	896	c.551G>A	c.(550-552)gGc>gAc	p.G184D	POMGNT2_ENST00000441964.1_Missense_Mutation_p.G184D	NM_032806.5	NP_116195.2			protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)																		GTGGGCCAGGCCGGGAAACTG	0.632000													17	54					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112361499	112361499	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:112361499C>T	ENST00000361804.4	+	24	2875	c.2749C>T	c.(2749-2751)Cat>Tat	p.H917Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	917					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCTATAAATCATGATACTAA	0.368000													41	87					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22292854	22292854	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:22292854G>A	ENST00000306482.1	-	3	743	c.225C>T	c.(223-225)ggC>ggT	p.G75G	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	75					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGAACCCCCGGCCATGGGTAT	0.453000													19	34					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43272430	43272430	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43272430G>A	ENST00000372585.5	+	11	1709	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	SLC22A7_ENST00000372589.3_Silent_p.E536E	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	538						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTCTTCAGGAGGAAGAGATGC	0.612000													30	40					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34893000	34893000	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:34893000C>G	ENST00000592983.1	+	2	630	c.50C>G	c.(49-51)aCc>aGc	p.T17S	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.T17S			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	17					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCAATGGAACCACCGTGCTG	0.423000													39	63					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52219566	52219566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52219566G>A	ENST00000540069.2	-	4	1061	c.1001C>T	c.(1000-1002)aCt>aTt	p.T334I	HAS1_ENST00000594621.1_Intron|HAS1_ENST00000222115.1_Missense_Mutation_p.T335I|HAS1_ENST00000601714.1_Missense_Mutation_p.T342I			Q92839	HAS1_HUMAN	hyaluronan synthase 1	335					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATCCCCAAAAGTACAGTGGGT	0.542000													29	51					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195548	31195548	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31195548G>A	ENST00000254108.7	+	5	459	c.354G>A	c.(352-354)caG>caA	p.Q118Q	FUS_ENST00000380244.3_Silent_p.Q117Q|FUS_ENST00000568685.1_Silent_p.Q118Q	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	118	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GCAGTTCTCAGAGCAGCAGCT	0.493000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								9	130					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100807527	100807527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100807527G>A	ENST00000249330.2	-	2	837	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	VGF_ENST00000445482.2_Missense_Mutation_p.P200S	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	200					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TCTGGCCCCGGGCTCTCCAGA	0.697000													16	35					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158058198	158058198	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:158058198G>A	ENST00000368172.1	+	4	404	c.392G>A	c.(391-393)gGg>gAg	p.G131E	KIRREL_ENST00000368173.3_Missense_Mutation_p.G333E|KIRREL_ENST00000416935.2_Missense_Mutation_p.G233E|KIRREL_ENST00000359209.6_Missense_Mutation_p.G333E|KIRREL_ENST00000392272.2_Missense_Mutation_p.G230E|KIRREL_ENST00000360089.4_Missense_Mutation_p.G169E			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	333	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GTCTGGGTTGGGAATCCCCCC	0.453000													39	50					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112645748	112645748	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112645748G>A	ENST00000550722.1	-	52	8018	c.7623C>T	c.(7621-7623)atC>atT	p.I2541I	HECTD4_ENST00000430131.2_Silent_p.I2265I|HECTD4_ENST00000377560.5_Silent_p.I2515I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGCGTCTTCGGATGGTAGGAA	0.512000													6	19					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124008229	124008229	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:124008229C>T	ENST00000369005.1	+	20	8804	c.8464C>T	c.(8464-8466)Ctg>Ttg	p.L2822L	TACC2_ENST00000369000.1_Silent_p.L445L|TACC2_ENST00000515603.1_Silent_p.L2700L|TACC2_ENST00000369004.3_Silent_p.L882L|TACC2_ENST00000360561.3_Silent_p.L870L|TACC2_ENST00000515273.1_Silent_p.L2749L|TACC2_ENST00000334433.3_Silent_p.L2822L|TACC2_ENST00000513429.1_Silent_p.L968L|TACC2_ENST00000260733.3_Silent_p.L900L|TACC2_ENST00000368999.1_Silent_p.L912L|TACC2_ENST00000453444.2_Silent_p.L2749L|TACC2_ENST00000369001.1_Silent_p.L449L|TACC2_ENST00000358010.1_Silent_p.L968L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2822						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCAAGCCCTGGCCGACCT	0.562000													7	76					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29261276	29261276	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:29261276G>A	ENST00000330889.3	+	5	806	c.471G>A	c.(469-471)ctG>ctA	p.L157L	ADAP2_ENST00000580525.1_Silent_p.L163L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	157	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGTACTTCTGGCAAGAGAAG	0.498000													12	28					0	0	1	0	0
PPIA	5478	broad.mit.edu	37	7	44836377	44836377	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44836377C>T	ENST00000468812.1	+	1	99	c.54C>T	c.(52-54)ggC>ggT	p.G18G	PPIA_ENST00000451562.1_Silent_p.G18G|PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000355968.6_5'UTR	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	18	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGCCCTTGGGCCGCGTCTCCT	0.682000													13	132					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150429857	150429857	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:150429857C>T	ENST00000401000.4	+	7	951	c.886C>T	c.(886-888)Cct>Tct	p.P296S	RPRD2_ENST00000539519.1_Missense_Mutation_p.P296S|RPRD2_ENST00000369068.4_Missense_Mutation_p.P322S|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	322							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCACCAGTTCCTTCCCCAAG	0.463000													10	112					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10908862	10908862	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:10908862G>A	ENST00000381661.3	+	6	505	c.396G>A	c.(394-396)gaG>gaA	p.E132E	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000272238.4_Silent_p.E132E	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	132					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CGCAGATCGAGATGGACCTGA	0.498000													23	46					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89613092	89613092	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89613092C>T	ENST00000268704.2	+	11	1491	c.1476C>T	c.(1474-1476)caC>caT	p.H492H		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	492					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TTGAGCAGCACCTGAAGAGCC	0.572000													18	47					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37665762	37665762	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:37665762C>T	ENST00000378588.4	+	11	1504	c.1437C>T	c.(1435-1437)taC>taT	p.Y479Y	CYBB_ENST00000536160.1_Silent_p.Y212Y|CYBB_ENST00000545017.1_Silent_p.Y447Y|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	479					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACAACATCTACCTCACTGGCT	0.522000													5	26					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111022	57111022	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57111022C>T	ENST00000454682.1	-	3	4573	c.4292G>A	c.(4291-4293)gGa>gAa	p.G1431E	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTGAGATCTCCTTTGGATGG	0.597000			T	BCL6	NHL								3	33					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970089	101970089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101970089C>T	ENST00000543253.1	+	5	1211	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.P98S|GPRASP2_ENST00000535209.1_Missense_Mutation_p.P98S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGGGCCAGGCCCAAAACCGA	0.587000													55	93					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162894710	162894710	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:162894710G>A	ENST00000393915.4	+	4	372	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000358715.3_Splice_Site_p.E76K|HMMR_ENST00000432118.2_Intron	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	76						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAAACAGAAGGAATCTCAAAA	0.308000													5	80					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522078	157522078	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:157522078C>T	ENST00000346085.5	+	18	4351	c.4350C>T	c.(4348-4350)ggC>ggT	p.G1450G	ARID1B_ENST00000275248.4_Silent_p.G1432G|ARID1B_ENST00000367148.1_Silent_p.G1490G|ARID1B_ENST00000350026.5_Silent_p.G1437G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1437					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGATGGGCGGCCCGCTGCAGT	0.642000													14	26					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316509	78316509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:78316509C>T	ENST00000409931.3	-	6	1530	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.D487N			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	487						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTCAGCCTGTCCAGTTCCAGC	0.632000													10	16					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63845643	63845643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:63845643C>T	ENST00000279873.7	+	9	1792	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P218L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	461					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCCCCAAAGCCCCAGGATGCA	0.448000													7	143					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386948	105386948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105386948C>T	ENST00000369774.4	-	9	892	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V68M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V73M|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V41M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V206M|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	206	SH3 1.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAAGTGCTCACGAACCACCAG	0.602000													5	48					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132250832	132250832	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:132250832G>A	ENST00000261674.4	+	13	2262	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	SFSWAP_ENST00000541286.1_Silent_p.E707E	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	707					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAAAATTGAGGAGAGTCCTT	0.478000													11	159					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14767858	14767858	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:14767858G>A	ENST00000261170.3	-	26	3126	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	997					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAGCCAGTAGGTAGTCTCATT	0.478000													3	54					0	0	1	0	0
UFM1	51569	broad.mit.edu	37	13	38924143	38924143	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:38924143G>A	ENST00000239878.4	+	2	49	c.10G>A	c.(10-12)Gtt>Att	p.V4I	UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	4					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CAGGTCGAAGGTTTCCTTTAA	0.577000													38	32					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791784	220791784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:220791784C>T	ENST00000402574.1	+	8	1282	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	MARK1_ENST00000366917.4_Nonsense_Mutation_p.Q229*|MARK1_ENST00000366918.4_Nonsense_Mutation_p.Q207*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	229	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGAGCTTTTCCAAGGAAAGAA	0.433000													5	29					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130331433	130331433	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:130331433G>A	ENST00000299164.2	+	2	1007	c.1007G>A	c.(1006-1008)gGt>gAt	p.G336D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	336	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCTGATGTGGGTACCATGTGT	0.587000													33	57					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54557292	54557292	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:54557292G>A	ENST00000251636.5	-	25	4012	c.3864C>T	c.(3862-3864)acC>acT	p.T1288T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1288							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGGTTATTAGGGTAGTTTCTC	0.363000													4	78					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653109	30653109	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30653109G>A	ENST00000274853.3	-	1	2563	c.687C>T	c.(685-687)gcC>gcT	p.A229A	PPP1R18_ENST00000399199.3_Silent_p.A229A|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	229						cytoplasm|cytoskeleton	actin binding										ACTTCTGGTAGGCAGATTCCC	0.542000													74	134					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169581475	169581475	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:169581475G>A	ENST00000263686.6	-	6	978	c.941C>T	c.(940-942)gCc>gTc	p.A314V	SELP_ENST00000458599.2_Missense_Mutation_p.A314V|SELP_ENST00000367786.2_Missense_Mutation_p.A314V|SELP_ENST00000367792.2_Missense_Mutation_p.A314V|SELP_ENST00000367788.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.A314V|SELP_ENST00000367791.2_Missense_Mutation_p.A314V|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	314	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.A314D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGGGGCTGGGGCTGTCCATAC	0.493000													14	50					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236577	26236577	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:26236577C>T	ENST00000354667.4	-	5	529	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E109K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	121	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCAGTATCTTCTTTAATTCCG	0.378000			T	ETV1	prostate								20	200					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456399	47456399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47456399G>A	ENST00000265565.5	-	20	3636	c.3224C>T	c.(3223-3225)cCc>cTc	p.P1075L	SCAP_ENST00000441517.2_Missense_Mutation_p.P819L|SCAP_ENST00000545718.1_Missense_Mutation_p.P682L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1075	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTGTGCACAGGGCACTGTGTG	0.602000													29	44					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43535171	43535171	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:43535171G>A	ENST00000282041.5	-	2	231	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	66					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGAGCTGGGAATCAGTTAC	0.463000													6	49					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796946	42796946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42796946C>T	ENST00000572681.2	+	15	6196	c.6128C>T	c.(6127-6129)cCc>cTc	p.P2043L	CIC_ENST00000575354.2_Missense_Mutation_p.P1135L|CIC_ENST00000160740.3_Missense_Mutation_p.P1134L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATTCTGCCCAAGGGCCCG	0.672000			"""Mis, F, S"""		oligodendroglioma								18	50					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22049279	22049279	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22049279G>A	ENST00000335025.8	+	19	1477	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	PPIL2_ENST00000492445.2_Silent_p.K462K|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000406385.1_Silent_p.K462K|PPIL2_ENST00000398831.3_Silent_p.K462K|PPIL2_ENST00000412327.1_Silent_p.K462K|PPIL2_ENST00000446951.1_3'UTR			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CCAAAGTGAAGAGCAGCCAGC	0.672000													6	114					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450706	76450706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:76450706C>T	ENST00000389840.5	-	64	10334	c.10210G>A	c.(10210-10212)Ggc>Agc	p.G3404S	DNAH17_ENST00000585328.1_Missense_Mutation_p.G3413S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGGGGAGGCCCTGGTTGTTC	0.642000													6	35					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981576	75981576	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75981576C>T	ENST00000308508.5	-	3	1922	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	610	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCGCCGGCTCCCCAGGCTGGT	0.667000													10	24					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179197659	179197659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179197659G>A	ENST00000190611.4	+	8	924	c.548G>A	c.(547-549)cGt>cAt	p.R183H	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R162H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R183H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R183H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R183H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R183H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R183H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	183					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGGTTGTATCGTCAGAATGAA	0.408000													50	89					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461923	50461923	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50461923A>G	ENST00000447370.2	-	7	1430	c.1340T>C	c.(1339-1341)gTc>gCc	p.V447A	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V447A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	447	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGAGAGAGACGTGCTGGGA	0.652000													5	117					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57554706	57554706	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57554706C>T	ENST00000243077.3	+	13	2476	c.2010C>T	c.(2008-2010)gaC>gaT	p.D670D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	670					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGAGGAGGACCCCAAGGACA	0.622000													4	77					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196547439	196547439	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196547439G>A	ENST00000327134.3	+	13	1672		c.e13+1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TCCCTTGAGGGTAAGATGAGT	0.418000													5	63					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139232101	139232101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139232101C>T	ENST00000541337.1	-	6	1491	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000545385.1_Missense_Mutation_p.R489K|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289409.4_Missense_Mutation_p.R481K|NRG2_ENST00000361474.1_Missense_Mutation_p.R487K|NRG2_ENST00000358522.3_Missense_Mutation_p.R489K|NRG2_ENST00000289422.7_Missense_Mutation_p.R495K|NRG2_ENST00000340391.3_Missense_Mutation_p.R284K	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	487					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTTTCTCTCCTGATGAC	0.542000													28	59					0	0	1	0	0
DNAJC25	548645	broad.mit.edu	37	9	114411998	114411998	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:114411998C>T	ENST00000313525.3	+	3	811	c.755C>T	c.(754-756)gCt>gTt	p.A252V	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	252					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATTATCTTAGCTCCTTTTCAC	0.328000													18	31					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93091429	93091429	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:93091429C>T	ENST00000370331.1	-	13	1551	c.1542G>A	c.(1540-1542)gtG>gtA	p.V514V	EVI5_ENST00000540033.1_Silent_p.V514V|EVI5_ENST00000543509.1_Silent_p.V525V|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	514	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CTCTAAGTTTCACAGCAATGA	0.343000													4	79					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296337	79296337	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:79296337C>T	ENST00000419573.3	-	16	2578	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.K752K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	769					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTCCAGGGCCTTGCCGCCAG	0.627000													6	45					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48621183	48621183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48621183G>A	ENST00000328333.8	-	39	4416	c.4309C>T	c.(4309-4311)Ccc>Tcc	p.P1437S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1437S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1437	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCCAACGGGGCCTTGGGGT	0.582000													4	50					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694836	60694836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:60694836G>A	ENST00000005286.4	+	2	414	c.261G>A	c.(259-261)tgG>tgA	p.W87*	TMEM132A_ENST00000453848.2_Nonsense_Mutation_p.W87*	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	87						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TACAGCCCTGGCCCAGGGCCC	0.637000													17	53					0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391409	18391409	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18391409G>A	ENST00000252818.3	-	1	1023	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	296	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						TTCTCTTCCAGGCGCGAGATG	0.647000													4	35					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105795281	105795281	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105795281G>A	ENST00000353479.5	-	49	3749	c.3459C>T	c.(3457-3459)ccC>ccT	p.P1153P	COL17A1_ENST00000369733.3_Silent_p.P1108P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1153	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAAGCCAGGGGGCCCCGGGG	0.607000													7	21					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15772118	15772118	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:15772118C>T	ENST00000375949.4	+	7	692	c.666C>T	c.(664-666)tgC>tgT	p.C222C	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	222	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGAACTGCCAGTTGGAGA	0.647000													35	53					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41313120	41313120	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41313120G>A	ENST00000361937.3	-	26	3676	c.3252C>T	c.(3250-3252)ggC>ggT	p.G1084G	INO80_ENST00000401393.3_Silent_p.G1084G|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1084	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGAAAGACCAGCCATTCTGAG	0.517000													14	25					0	0	1	0	0
MIS12	79003	broad.mit.edu	37	17	5392651	5392651	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5392651A>G	ENST00000381165.3	+	3	1022	c.469A>G	c.(469-471)Act>Gct	p.T157A	MIS12_ENST00000573759.1_Missense_Mutation_p.T157A	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	157					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ACAGACGTTGACTTTCTTTGA	0.398000													48	123					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380560	65380560	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65380560G>A	ENST00000309100.3	-	1	1153	c.668C>T	c.(667-669)gCc>gTc	p.A223V		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	223	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CATCCCACGGGCAATCTGCAC	0.647000													21	33					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30709930	30709930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30709930C>T	ENST00000376389.3	-	2	257	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	FLOT1_ENST00000456573.2_Missense_Mutation_p.V13I|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	13						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TTACCGGAGACCACCATGGCC	0.592000													13	127					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41008316	41008316	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:41008316G>A	ENST00000308423.2	+	4	2201	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	AOC3_ENST00000591562.1_Missense_Mutation_p.G138S	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	681					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGACAGCTGGTTTTCTGCA	0.532000													24	147					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414906	105414906	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:105414906C>T	ENST00000333244.5	-	7	7001	c.6882G>A	c.(6880-6882)aaG>aaA	p.K2294K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2294						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCATCCAGCTTGGCTCCTG	0.592000													8	137					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859816	43859816	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:43859816C>T	ENST00000378009.4	+	0	425				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TTCCTAGACCCAGGATCCTTG	0.542000													23	26					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116948843	116948843	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:116948843G>A	ENST00000229554.5	+	3	1110	c.973G>A	c.(973-975)Gct>Act	p.A325T	RSPH4A_ENST00000368581.4_Missense_Mutation_p.A325T|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	325					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTTGAACAAGCTGGAGTTGG	0.423000									Kartagener syndrome				27	64					0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107938390	107938390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:107938390C>T	ENST00000264538.3	-	2	489	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	81					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GAACTGTTCGCCAGGGTTGGT	0.423000													24	40					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35258057	35258057	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:35258057C>T	ENST00000373953.3	+	6	713	c.447C>T	c.(445-447)agC>agT	p.S149S	ZNF76_ENST00000440666.2_Silent_p.S123S|ZNF76_ENST00000339411.5_Silent_p.S149S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	149					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S149S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTCATGACAGCCAGATTCCCC	0.532000													35	198					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59556129	59556129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:59556129C>T	ENST00000393853.4	+	6	854	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Nonsense_Mutation_p.Q231*			P57082	TBX4_HUMAN	T-box 4	231					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCTCCTACCAGAATCACAA	0.547000													7	127					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123829961	123829961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123829961G>A	ENST00000420886.2	-	3	393	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	SBNO1_ENST00000602398.1_Missense_Mutation_p.P132S|SBNO1_ENST00000602750.1_Missense_Mutation_p.P131S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P131S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	132							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAGACTGACGGGCGTGTGCTT	0.408000													19	177					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166243321	166243321	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166243321C>T	ENST00000375437.2	+	26	4907	c.4617C>T	c.(4615-4617)atC>atT	p.I1539I	SCN2A_ENST00000375427.2_Silent_p.I1539I|SCN2A_ENST00000283256.6_Silent_p.I1539I|SCN2A_ENST00000357398.3_Silent_p.I1539I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1539					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCATCATGATCCTCATCTGCC	0.358000													19	48					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1540095	1540095	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1540095G>A	ENST00000263071.4	-	10	1590	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	SCARF1_ENST00000348987.3_Missense_Mutation_p.S428F|SCARF1_ENST00000571272.1_Silent_p.L502L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	514	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGCCGGCAGAGGGCGGCTC	0.602000													7	175					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15613076	15613076	+	Silent	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15613076A>G	ENST00000427411.1	-	3	453	c.237T>C	c.(235-237)ctT>ctC	p.L79L	ACE2_ENST00000252519.3_Silent_p.L79L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	79					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACATTTGGGCAAGTGTGGACT	0.418000													108	185					0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113126693	113126693	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:113126693C>T	ENST00000358039.4	-	7	1061	c.757G>A	c.(757-759)Gct>Act	p.A253T	ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000360743.4_Missense_Mutation_p.A253T|ST7L_ENST00000544629.1_Missense_Mutation_p.A188T|ST7L_ENST00000538187.1_Missense_Mutation_p.A197T|ST7L_ENST00000369668.2_Missense_Mutation_p.A253T|ST7L_ENST00000369669.1_Missense_Mutation_p.A70T|ST7L_ENST00000369666.1_Missense_Mutation_p.A236T|ST7L_ENST00000343210.7_Missense_Mutation_p.A253T|ST7L_ENST00000543570.1_Missense_Mutation_p.A236T|ST7L_ENST00000490067.1_Missense_Mutation_p.A236T	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	253					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCTTTCAGCATCTACAATA	0.418000													5	66					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45818840	45818840	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45818840C>T	ENST00000221476.3	-	4	538	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	122					creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TAGTTAGGGTCCAGGTCGTCT	0.677000													6	25					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12278487	12278487	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:12278487C>T	ENST00000256194.4	+	24	3399	c.3111C>T	c.(3109-3111)cgC>cgT	p.R1037R	MICAL2_ENST00000342902.5_Silent_p.R1016R|MICAL2_ENST00000379612.3_Silent_p.R811R|MICAL2_ENST00000537344.1_Silent_p.R847R|MICAL2_ENST00000527546.1_Silent_p.R847R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1037	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCACCTTGCGCCTGGCCGCCT	0.622000													7	19					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99365486	99365486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:99365486C>T	ENST00000369244.2	-	5	1050	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FBXL4_ENST00000229971.1_Missense_Mutation_p.E208K	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	208					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTATTTACTTCCAGTCGTATA	0.403000													8	81					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224345	127224345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:127224345C>T	ENST00000321407.2	-	1	1316	c.892G>A	c.(892-894)Gag>Aag	p.E298K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	298						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCTCCACCTCACGGGTCAGC	0.537000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	78					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	955825	955825	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:955825G>A	ENST00000273814.3	-	19	2333	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	754					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCAGGCTCAGCTCCGCGTCG	0.637000													52	86					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773051	34773051	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:34773051C>T	ENST00000338074.2	+	7	740	c.579C>T	c.(577-579)tgC>tgT	p.C193C	EPB41L1_ENST00000373946.3_Silent_p.C162C|EPB41L1_ENST00000373941.1_Silent_p.C193C|EPB41L1_ENST00000373950.2_Silent_p.C96C|EPB41L1_ENST00000202028.5_Silent_p.C131C|EPB41L1_ENST00000441639.1_Silent_p.C131C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	193	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACTACCTGTGCCTGCAGCTGC	0.592000													13	41					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101063376	101063376	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101063376G>A	ENST00000313669.7	+	0	469				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CGCCAACCTCGTAAGGTAAAG	0.657000													34	50					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105133243	105133243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105133243G>A	ENST00000369839.3	+	2	711	c.688G>A	c.(688-690)Gac>Aac	p.D230N	TAF5_ENST00000351396.4_Missense_Mutation_p.D230N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	230					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ATGTTCCCTGGACTGCCATCG	0.428000													36	63					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29684742	29684742	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:29684742G>A	ENST00000397938.2	+	8	1260	c.941G>A	c.(940-942)aGa>aAa	p.R314K	EWSR1_ENST00000331029.7_Missense_Mutation_p.R314K|EWSR1_ENST00000414183.2_Missense_Mutation_p.R320K|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000332035.6_Missense_Mutation_p.R258K|EWSR1_ENST00000406548.1_Missense_Mutation_p.R314K|EWSR1_ENST00000333395.6_Missense_Mutation_p.R314K	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	314	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCATGAGCAGAGGTGGGCGG	0.532000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								4	35					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8616658	8616658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:8616658C>T	ENST00000338257.8	-	8	1004	c.737G>A	c.(736-738)gGc>gAc	p.G246D		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	246	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCGTCCGTGCCGTCCACCTG	0.602000													6	82					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005927	69005927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:69005927G>A	ENST00000288368.4	+	21	2615	c.2338G>A	c.(2338-2340)Gca>Aca	p.A780T	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	780					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGAGATGAAGCAGGGGATGC	0.413000													4	88					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919690	4919690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:4919690G>A	ENST00000433855.1	+	1	1349	c.483G>A	c.(481-483)tgG>tgA	p.W161*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.W161*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	161						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCCAGGTGTGGCTGCTCTTTG	0.647000										HNSCC(72;0.22)			15	54					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416609	187416609	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:187416609C>T	ENST00000358241.1	-	2	783	c.355G>A	c.(355-357)Gac>Aac	p.D119N		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	119					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ATGAGGTTGTCCACCAGGCCC	0.667000													9	21					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200776612	200776612	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200776612G>A	ENST00000358823.2	+	3	778	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A170T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A170T	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	170						cytoplasm|microtubule	protein binding										TTTTTTTCAAGCCACAGATCT	0.398000													30	44					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124235757	124235757	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:124235757G>A	ENST00000330342.3	+	16	2284	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	679					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AATGGGCGTAGTTGCTTCGGG	0.488000													7	177					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36234002	36234002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:36234002C>T	ENST00000396594.3	-	5	1101	c.990G>A	c.(988-990)ggG>ggA	p.G330G	GNE_ENST00000543356.2_Silent_p.G294G|GNE_ENST00000447283.2_Silent_p.G299G|GNE_ENST00000539208.1_Silent_p.G189G|GNE_ENST00000539815.1_Silent_p.G299G|GNE_ENST00000377902.5_Silent_p.G299G	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	299					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AGCTGCTGTTCCCAATCATAC	0.473000													81	152					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463298	26463298	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26463298G>A	ENST00000265944.5	+	30	4271	c.4105G>A	c.(4105-4107)Gac>Aac	p.D1369N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1369	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTTGAGGAAGGACAAGATGTC	0.433000													33	74					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898194	23898194	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23898194G>A	ENST00000355349.3	-	14	1539	c.1377C>T	c.(1375-1377)gtC>gtT	p.V459V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	459	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGATGTCCAGGACTCCTATGA	0.537000													25	40					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33779661	33779661	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:33779661C>T	ENST00000261326.5	+	4	336	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	105					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TGGCGCACTTCCACACCACCG	0.557000													36	67					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112097102	112097102	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:112097102C>T	ENST00000429071.1	+	4	649	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	IFRD1_ENST00000535603.1_Intron|IFRD1_ENST00000005558.4_Intron|IFRD1_ENST00000403825.3_Intron			O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	0					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGGTAATGCCCTTATTTTTGA	0.353000													8	73					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647000													13	35					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639546	3639546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3639546C>T	ENST00000294008.3	-	12	4733	c.4093G>A	c.(4093-4095)Gac>Aac	p.D1365N		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1365	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGGGCGCGGTCCCCTGAGATG	0.657000								Direct reversal of damage					24	58					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24077740	24077740	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24077740C>T	ENST00000418390.2	+	4	994	c.723C>T	c.(721-723)agC>agT	p.S241S	TCEB3_ENST00000609199.1_Silent_p.S215S	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	241					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAGGCCACAGCAATGCCTTTC	0.547000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	67					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69397407	69397407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69397407G>A	ENST00000303714.4	+	14	1397	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A359T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	359					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCACCCCCTGCCGAGGAGAG	0.567000									Familial Infantile Hemangioma				8	36					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52199260	52199260	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:52199260C>T	ENST00000371471.2	-	2	531	c.106G>A	c.(106-108)Gat>Aat	p.D36N	ZNF217_ENST00000302342.3_Missense_Mutation_p.D36N			O75362	ZN217_HUMAN	zinc finger protein 217	36					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GACAAGGCATCCTCCATCTCC	0.468000													5	78					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51153075	51153075	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:51153075C>T	ENST00000404971.1	-	4	2229		c.e4+1		NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000405581.1_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAGCACCCACCTTCCACATT	0.393000													2	2					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349926	100349926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100349926G>A	ENST00000372930.4	+	2	768	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	162						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GCCCCTCAGGGCAAAGTGAAG	0.507000													5	59					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813375	248813375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:248813375C>T	ENST00000344889.3	-	1	810	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGCTTTGTCCTGCTCAGGG	0.522000													24	4					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997901	29997901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29997901C>T	ENST00000308893.4	+	16	3351	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P597S|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	770					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CACAGGCACCCCTATAGAACA	0.632000													21	70					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661411	40661411	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40661411G>A	ENST00000454349.2	+	5	1388	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G393R|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	393					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAGAATAAGGGAATGCCCTT	0.483000													12	45					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													10	106					1.08611e-07	1.09008e-07	1	1	0
RECQL4	9401	broad.mit.edu	37	8	145737151	145737151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145737151C>T	ENST00000428558.2	-	21	3456	c.3415G>A	c.(3415-3417)Gtc>Atc	p.V1139I	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1139					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCGCAGCGGACCTGGTCCTCC	0.642000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				19	66					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657716	1657716	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1657716A>G	ENST00000324015.3	+	10	1441	c.1364A>G	c.(1363-1365)gAc>gGc	p.D455G	SERPINF2_ENST00000450523.2_Missense_Mutation_p.D391G|SERPINF2_ENST00000382061.4_Missense_Mutation_p.D455G	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	455				D -> N (in Ref. 8; AA sequence).	acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGCAACAAGGACTTCCTCCAG	0.612000													9	110					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911168	101911168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101911168G>A	ENST00000537097.1	+	6	3140	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G776E|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G776E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G776E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	776	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTGAGGAGGGGGACATTATT	0.493000													45	75					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63999796	63999796	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:63999796C>T	ENST00000371088.4	+	6	959	c.713C>T	c.(712-714)aCc>aTc	p.T238I		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	238							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CTGTCAGCAACCAGGAAGTTC	0.373000													4	88					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47193314	47193314	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47193314C>T	ENST00000524782.1	-	9	938	c.710G>A	c.(709-711)aGc>aAc	p.S237N	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.S130N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S101N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	237	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTCTGGCTGCTCACCTTCTG	0.597000													7	73					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108204677	108204677	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:108204677C>T	ENST00000278616.4	+	54	8377	c.7992C>T	c.(7990-7992)gtC>gtT	p.V2664V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.V2664V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2664					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGTTGTTGTCCCTACTATGG	0.254000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			9	161					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73501002	73501002	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:73501002G>A	ENST00000321617.3	-	11	1669	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	CASKIN2_ENST00000433559.2_Silent_p.T279T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	361						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGCAGGGGGGTGGGTGCGG	0.697000													9	13					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52383604	52383604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52383604C>T	ENST00000420592.1	-	3	1365	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ZNF577_ENST00000412216.1_Missense_Mutation_p.R11K|ZNF577_ENST00000301399.5_Missense_Mutation_p.R11K|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R11K			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ttgctctctcctcacagacat	0.433000													55	111					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812780	73812780	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73812780C>T	ENST00000332687.6	-	4	588	c.370G>A	c.(370-372)Gca>Aca	p.A124T	RLIM_ENST00000349225.2_Missense_Mutation_p.A124T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	124					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACTCACTGCTCTCCAAGAT	0.383000													4	153					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27587706	27587706	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27587706C>T	ENST00000493344.2	-	11	1626	c.1314G>A	c.(1312-1314)cgG>cgA	p.R438R	EIF2B4_ENST00000445933.2_Silent_p.R416R|EIF2B4_ENST00000451130.2_Silent_p.R437R|EIF2B4_ENST00000347454.4_Silent_p.R417R|AC074117.10_ENST00000412749.1_RNA			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	417					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCCTACCCGTGACATCA	0.498000													19	24					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69963364	69963364	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:69963364C>T	ENST00000359154.2	+	12	1349	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	WWP2_ENST00000356003.2_Silent_p.D416D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D416D|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000542271.1_Silent_p.D300D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	416	WW 3.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAGACAGGACAATGGACGGG	0.572000													13	25					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879718	33879718	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33879718C>T	ENST00000374408.3	-	1	486	c.390G>A	c.(388-390)ctG>ctA	p.L130L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	130										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGCCAGCCCAGGTCCAGGT	0.642000													39	55					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64527272	64527272	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64527272G>A	ENST00000164139.3	-	1	497	c.99C>T	c.(97-99)aaC>aaT	p.N33N	PYGM_ENST00000377432.3_Silent_p.N33N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	33					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGGTGCCGGTTGAAGTTCT	0.577000													67	144					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055818	6055818	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:6055818C>T	ENST00000409021.3	-	13	2214	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D424N|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D404N|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D589N|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.D589N	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	589	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGTTCTGATCCTTGGCGTCT	0.438000													13	226					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469392	72469392	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:72469392G>A	ENST00000296776.5	+	1	371	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	108						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGAGGAAAGGGTCCCGGACTC	0.532000													12	77					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56079061	56079061	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:56079061C>T	ENST00000416613.1	+	1	367	c.295C>T	c.(295-297)Cct>Tct	p.P99S	KTN1_ENST00000438792.2_Missense_Mutation_p.P99S|KTN1_ENST00000413890.2_Missense_Mutation_p.P99S|KTN1_ENST00000395314.3_Missense_Mutation_p.P99S|KTN1_ENST00000395311.1_Missense_Mutation_p.P99S|KTN1_ENST00000395308.1_Missense_Mutation_p.P99S|KTN1_ENST00000395309.3_Missense_Mutation_p.P99S			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	99					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCAAGTTGCACCTGTTCCATT	0.398000			T	RET	papillary thryoid								5	61					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64875623	64875623	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:64875623G>A	ENST00000331710.5	+	8	1153	c.814G>A	c.(814-816)Ggt>Agt	p.G272S		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	272	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTATTTTAGGGGTCTTCAGGT	0.348000													6	60					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955882	37955882	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:37955882G>A	ENST00000436072.2	-	1	635	c.258C>T	c.(256-258)acC>acT	p.T86T	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	86	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGAACTCCAGGGTGCAAATGG	0.622000													17	57					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50158054	50158054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50158054C>T	ENST00000360565.3	+	9	3669	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1182					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCCACCCCCACCGGGCTG	0.697000													15	22					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32805970	32805970	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:32805970G>A	ENST00000328834.5	+	16	2180	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	CNOT10_ENST00000331889.6_Missense_Mutation_p.A595T|CNOT10_ENST00000454516.2_Missense_Mutation_p.A682T	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	622				A -> T (in Ref. 1; BAB14478).	nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGAAAATGAAGCAATGGAATC	0.383000													37	51					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155886461	155886461	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155886461C>T	ENST00000368320.3	-	12	1533	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	KIAA0907_ENST00000368321.3_Missense_Mutation_p.G503E			Q7Z7F0	K0907_HUMAN	KIAA0907	503										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGGCTTCGATCCTGCACCTTC	0.408000													62	102					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025881	72025881	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72025881C>T	ENST00000277942.6	-	2	273	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1							integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						AAGATGCCCACCAGCAGGTCA	0.567000													7	96					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295113	295113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:295113C>T	ENST00000390665.3	-	13	1735	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	573					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACAGCGGCTCCAGGTCCTCG	0.711000													14	16					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412947	11412947	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:11412947G>A	ENST00000259089.4	+	8	1318	c.726G>A	c.(724-726)agG>agA	p.R242R	BLK_ENST00000529894.1_Silent_p.R171R	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	242	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGTCTCTCAGGCTGGTCAGGA	0.632000													4	48					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812206	73812206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73812206C>T	ENST00000332687.6	-	4	1162	c.944G>A	c.(943-945)aGa>aAa	p.R315K	RLIM_ENST00000349225.2_Missense_Mutation_p.R315K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	315					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGGAGGTCTCTGTCCTGA	0.478000													23	38					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86292536	86292536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:86292536C>T	ENST00000263857.6	-	14	2297	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	POLR1A_ENST00000409681.1_Missense_Mutation_p.S640N|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	640					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTAGTCATGCTTGCCCCTGA	0.498000													11	109					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871220	100871220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100871220G>A	ENST00000539247.1	-	4	823	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.L131F|ARMCX6_ENST00000361910.4_Missense_Mutation_p.L131F	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	131						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGAATGAAAAGACACTTGGAG	0.448000													4	156					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336654	3336654	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3336654G>A	ENST00000248384.1	-	1	481	c.482C>T	c.(481-483)aCc>aTc	p.T161I		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	161					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						ATGGAAGGTGGTCAGCACCCA	0.537000													4	37					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41889326	41889326	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:41889326G>A	ENST00000230340.4	+	1	401	c.26G>A	c.(25-27)gGg>gAg	p.G9E		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	9					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGCCCGTGGGGTGGGGGGT	0.647000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	42					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73066927	73066927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:73066927G>A	ENST00000263674.3	+	5	3942	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1198	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGAGAACAAGGAGAAGCAGGC	0.572000													5	165					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8857944	8857944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8857944C>T	ENST00000396600.2	+	7	1323	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	ABAT_ENST00000425191.2_Missense_Mutation_p.P129S|ABAT_ENST00000567812.1_Missense_Mutation_p.P144S|ABAT_ENST00000569156.1_Missense_Mutation_p.P129S|ABAT_ENST00000268251.8_Missense_Mutation_p.P129S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	129					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGTCAACAGACCCGCCCTCGG	0.552000													21	59					0	0	1	0	0
RPL27A	6157	broad.mit.edu	37	11	8707309	8707309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:8707309G>A	ENST00000314138.6	+	5	806	c.403G>A	c.(403-405)Gag>Aag	p.E135K	RPL27A_ENST00000526562.1_Missense_Mutation_p.E78K|RPL27A_ENST00000532359.1_Missense_Mutation_p.E100K|RPL27A_ENST00000524496.1_Missense_Mutation_p.E78K|RPL27A_ENST00000530022.1_Missense_Mutation_p.E78K|RPL27A_ENST00000530913.1_Missense_Mutation_p.E78K	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	135					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGAGGAGAAGATTAA	0.478000													24	12					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253017	55253017	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:55253017G>A	ENST00000337526.6	-	3	2461	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	RTN4_ENST00000357376.3_Missense_Mutation_p.P534S|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.P508S|RTN4_ENST00000405240.1_Missense_Mutation_p.P534S|RTN4_ENST00000394611.2_Missense_Mutation_p.P534S|RTN4_ENST00000404909.1_Missense_Mutation_p.P534S|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	740					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCAGAATCAGGTGAGGAATCT	0.408000													40	72					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512802	99512802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:99512802C>T	ENST00000535714.1	-	4	866	c.61G>A	c.(61-63)Gac>Aac	p.D21N	PGPEP1L_ENST00000378919.6_Missense_Mutation_p.D75N|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	75					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						ATGTCGGCGTCCCGGTAGCCT	0.632000													20	119					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139937550	139937550	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139937550C>T	ENST00000371600.3	-	1	994	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	NPDC1_ENST00000488145.1_Intron|NPDC1_ENST00000371601.4_Intron			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	32						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GAAGGCAGGGCCGGCTCACGG	0.726000													9	10					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112536284	112536284	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:112536284C>T	ENST00000341068.3	-	45	6125	c.5353G>A	c.(5353-5355)Gag>Aag	p.E1785K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1785					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCAACATCTCTGGGGTCTCC	0.388000													4	44					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123232424	123232424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123232424C>T	ENST00000349780.4	-	17	2112	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V645M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V645M|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V645M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	645					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAATGTTCCACTTGAAACCGA	0.289000													5	24					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724328	50724328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:50724328C>T	ENST00000515869.1	-	6	2357	c.2237G>A	c.(2236-2238)gGt>gAt	p.G746D	PGBD3_ENST00000508005.2_Missense_Mutation_p.G278D|PGBD3_ENST00000603152.1_Missense_Mutation_p.G746D|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G746D|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.G278D	NM_001277059.1	NP_001263988.1																					CCCGTGACGACCAAAATAAGG	0.408000													4	56					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30638105	30638105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:30638105C>T	ENST00000263063.4	-	1	143	c.100G>A	c.(100-102)Gga>Aga	p.G34R	MTPAP_ENST00000358107.4_Intron|MTPAP_ENST00000488290.1_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GCCACAGTTCCTGGGCAACTC	0.612000													25	53					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194368	36194368	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36194368C>T	ENST00000242108.4	+	2	1153	c.435C>T	c.(433-435)gcC>gcT	p.A145A	EEPD1_ENST00000534978.1_Silent_p.A145A	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	145					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCACCCCGGCCCAGCTCATGA	0.642000													11	43					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609606	42609606	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42609606G>A	ENST00000359486.3	-	1	1842	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	TCF20_ENST00000335626.4_Missense_Mutation_p.P569L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ATTGAGTCTGGGGGGTTCATT	0.562000													8	94					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976401	20976401	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:20976401C>T	ENST00000261383.3	-	53	8804	c.8805G>A	c.(8803-8805)cgG>cgA	p.R2935R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2935	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGCCTGGAGCCGATCTACCA	0.527000													18	168					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240366	3240366	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:3240366G>A	ENST00000217939.6	-	5	3514	c.3360C>T	c.(3358-3360)ctC>ctT	p.L1120L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1120						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGTCTAGGAGGGTACCAA	0.502000													4	60					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107406269	107406269	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107406269C>T	ENST00000334504.7	-	41	4303		c.e41-1		COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site|COL4A6_ENST00000372216.4_Splice_Site|COL4A6_ENST00000394872.2_Splice_Site	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGAAGAGCCTGTGGGCAGG	0.557000									Alport syndrome with Diffuse Leiomyomatosis				18	97					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626871	48626871	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48626871C>T	ENST00000328333.8	-	17	2310	c.2203G>A	c.(2203-2205)Gcc>Acc	p.A735T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A735T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	735	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCACCGTGGCCTCCCCAGAA	0.632000													4	52					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334061	12334061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:12334061G>A	ENST00000261349.4	-	6	1365	c.1289C>T	c.(1288-1290)aCa>aTa	p.T430I	LRP6_ENST00000543091.1_Missense_Mutation_p.T430I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	430	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTGAGCCTTGTCACTTCTAT	0.478000													5	61					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794126	242794126	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:242794126C>T	ENST00000334409.5	-	4	671	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	201					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GCGCCTGGCTCCTATTGTCCC	0.617000													9	22					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112440018	112440018	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:112440018C>T	ENST00000302475.4	-	5	1055	c.492G>A	c.(490-492)agG>agA	p.R164R	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.R101R|MCC_ENST00000408903.3_Silent_p.R354R	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	164					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGTCAGCACCCTCTGCAGTT	0.527000													8	148					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91296540	91296540	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:91296540G>A	ENST00000369329.3	-	1	224	c.63C>T	c.(61-63)gcC>gcT	p.A21A	MAP3K7_ENST00000369332.3_Silent_p.A21A|MAP3K7_ENST00000369327.3_Silent_p.A21A|MAP3K7_ENST00000369325.3_Silent_p.A21A	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	21					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCTGGGAAGGGGCTTCGATCA	0.662000													7	15					0	0	1	0	0
PGGT1B	5229	broad.mit.edu	37	5	114573652	114573652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:114573652C>T	ENST00000419445.1	-	4	402	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	PGGT1B_ENST00000379615.3_Missense_Mutation_p.G128S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	128					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CATGAGAGGCCAGTGTAGGTC	0.413000													8	84					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371239	33371239	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:33371239C>T	ENST00000270112.2	+	11	2247	c.1887C>T	c.(1885-1887)agC>agT	p.S629S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	629					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ATAAGAACAGCCCCCCAAAAG	0.592000													18	26					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344947	56344947	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:56344947G>A	ENST00000262290.4	+	12	2247	c.1931G>A	c.(1930-1932)aGg>aAg	p.R644K	LPO_ENST00000421678.2_Splice_Site_p.R561K|LPO_ENST00000582328.1_Splice_Site_p.R561K|LPO_ENST00000543544.1_Splice_Site_p.R585K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	644					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GATGGAGACAGGCAAGTGCGT	0.637000													3	37					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23956665	23956665	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:23956665G>A	ENST00000379211.3	+	8	1336	c.787G>A	c.(787-789)Ggt>Agt	p.G263S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	263										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATTTTCTAGGGGTCCATACTT	0.333000													5	134					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070094	114070094	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:114070094G>A	ENST00000462705.1	-	11	1433	c.612C>T	c.(610-612)ccC>ccT	p.P204P	ZBTB20_ENST00000471418.1_Silent_p.P204P|ZBTB20_ENST00000474710.1_Silent_p.P277P|ZBTB20_ENST00000393785.2_Silent_p.P204P|ZBTB20_ENST00000357258.3_Silent_p.P204P|ZBTB20_ENST00000481632.1_Silent_p.P204P|ZBTB20_ENST00000464560.1_Silent_p.P204P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGTGGTCGCGGGGCAGGCCGA	0.647000													19	38					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115267	54115267	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54115267C>T	ENST00000548263.1	-	6	790	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E248K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E215K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E248K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	248					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCTCCACTTCCTTCGTCAGC	0.597000													10	209					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51581353	51581353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51581353C>T	ENST00000452682.1	+	6	755	c.503C>T	c.(502-504)aCc>aTc	p.T168I	NCOA4_ENST00000374087.4_Missense_Mutation_p.T152I|NCOA4_ENST00000443446.1_Missense_Mutation_p.T152I|NCOA4_ENST00000374082.1_Missense_Mutation_p.T152I|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.T52I|NCOA4_ENST00000344348.6_Missense_Mutation_p.T152I|NCOA4_ENST00000438493.1_Missense_Mutation_p.T168I	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	152					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAGACCATCACCACATTTGGG	0.438000			T	RET	papillary thyroid								10	105					0	0	1	0	0
TMEM251	26175	broad.mit.edu	37	14	93652732	93652732	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:93652732G>A	ENST00000415050.2	+	2	601	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.A38T|RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.A38T	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		CAACAGGCTGGCCTTGGAACA	0.483000													32	45					0	0	1	0	0
CCDC34	91057	broad.mit.edu	37	11	27384720	27384720	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:27384720C>T	ENST00000317945.6	-	1	61	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	CCDC34_ENST00000328697.6_Missense_Mutation_p.G8R	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	8										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						AAAGTAGGCCCCCAGCGCCCC	0.711000													3	2					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233616	36233616	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36233616G>A	ENST00000292879.5	-	6	545	c.492C>T	c.(490-492)gcC>gcT	p.A164A	AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000412391.2_3'UTR|U2AF1L4_ENST00000378975.3_3'UTR	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	0					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCCAGGGCCTCAGAAG	0.622000													11	95					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541816	70541816	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:70541816G>A	ENST00000310961.5	+	24	4465	c.4047G>A	c.(4045-4047)cgG>cgA	p.R1349R	LRRC7_ENST00000415775.2_Silent_p.R675R|LRRC7_ENST00000035383.5_Silent_p.R1391R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1391						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCGCAGCCGGGAGCAGCAGC	0.522000													7	56					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64417997	64417997	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64417997C>T	ENST00000265459.6	-	15	3493	c.3032G>A	c.(3031-3033)gGc>gAc	p.G1011D	NRXN2_ENST00000377551.1_Missense_Mutation_p.G1011D|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1004D|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.G971D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1011	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGCACGTTGCCTGGGTCCCT	0.582000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	113					0	0	1	0	0
LACTB	114294	broad.mit.edu	37	15	63419867	63419867	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:63419867G>A	ENST00000413507.2	+	4	970	c.931G>A	c.(931-933)Gat>Aat	p.D311N	LACTB_ENST00000261893.4_Missense_Mutation_p.D311N|RPS27L_ENST00000559763.1_Intron	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	311						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ATTTAAAAATGATCCTTTGTT	0.299000													5	31					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560530	178560530	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:178560530C>T	ENST00000432997.1	+	5	865	c.513C>T	c.(511-513)caC>caT	p.H171H	RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.H171H|KCNMB2_ENST00000452583.1_Silent_p.H171H|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.H171H|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	171					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			AGTATCAACACTTCTCCTGCT	0.413000													10	135					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299699	125299699	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:125299699C>T	ENST00000538699.1	-	2	289	c.209G>A	c.(208-210)gGc>gAc	p.G70D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G70D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	70										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCCTCGAAGCCCTGGAGCCC	0.701000													19	28					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108137008	108137008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:108137008C>T	ENST00000228437.5	-	8	1906	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	483	SET.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CAATTACATTCATTTTCATCA	0.368000													7	55					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41815537	41815537	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41815537C>T	ENST00000304330.4	-	18	2568	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E818K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	818						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCCAATCCTCCGGGCATGAG	0.592000													14	26					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67885785	67885785	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:67885785C>T	ENST00000370994.4	-	6	954	c.840G>A	c.(838-840)cgG>cgA	p.R280R	SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370990.5_Silent_p.R295R|SERBP1_ENST00000370995.2_Silent_p.R301R|SERBP1_ENST00000361219.6_Silent_p.R286R	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	301					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTACTTTTGCCCGGTCCTTAT	0.393000													19	104					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901977	129901977	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:129901977G>A	ENST00000368654.3	-	13	8502	c.8127C>T	c.(8125-8127)ccC>ccT	p.P2709P	MKI67_ENST00000368653.3_Silent_p.P2349P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2709	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCTAGTGGGGGAGATTCGC	0.502000													12	76					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10381898	10381898	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10381898C>T	ENST00000264832.3	+	1	388	c.63C>T	c.(61-63)ttC>ttT	p.F21F	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.F21F	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	21					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGGCTCTGTTCCCAGGTGAGT	0.662000													4	15					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956387	10956387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:10956387C>T	ENST00000283141.6	+	25	2371	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	692						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCCACTTCATCCCTAGAAGTT	0.383000													11	46					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36783738	36783738	+	Missense_Mutation	SNP	T	T	C	rs149685675	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:36783738T>C	ENST00000416007.4	-	4	638	c.551A>G	c.(550-552)aAt>aGt	p.N184S	MBIP_ENST00000359527.7_Missense_Mutation_p.N184S|MBIP_ENST00000318473.7_Missense_Mutation_p.N184S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	184	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ATCAATAACATTGCAAAATTC	0.279000													11	17					0	0	1	0	0
SMCO1	255798	broad.mit.edu	37	3	196236422	196236422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196236422C>T	ENST00000397537.2	-	2	325	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		CACATCTCATCTTGGGCTGCT	0.448000													15	26					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104160748	104160748	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104160748C>T	ENST00000369966.3	+	18	2263	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	NFKB2_ENST00000189444.6_Silent_p.P671P|NFKB2_ENST00000428099.1_Silent_p.P671P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	671			Missing (in truncated form EB308).|Missing (in truncated form p80HT).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GAAACACACCCCTGCACCTGG	0.657000			T	IGH@	B-NHL								3	24					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72531153	72531153	+	Silent	SNP	C	C	T	rs141267448	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72531153C>T	ENST00000299290.1	-	11	1424	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923			thymus, brain and testes associated																		CCCTCGGCTTCGATGTCTTCT	0.562000													8	124					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27127138	27127138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:27127138C>T	ENST00000343028.4	-	12	1698	c.1473G>A	c.(1471-1473)tgG>tgA	p.W491*	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	491						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCAGCATGCCCCATACTGCCA	0.403000													5	65					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183099191	183099191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:183099191C>T	ENST00000435564.1	-	4	633	c.433G>A	c.(433-435)Gca>Aca	p.A145T	PDE1A_ENST00000409365.1_Missense_Mutation_p.A129T|PDE1A_ENST00000536095.1_Missense_Mutation_p.A41T|PDE1A_ENST00000331935.6_Missense_Mutation_p.A145T|PDE1A_ENST00000456212.1_Missense_Mutation_p.A145T|PDE1A_ENST00000346717.4_Missense_Mutation_p.A111T|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.A129T|PDE1A_ENST00000358139.2_Missense_Mutation_p.A145T|PDE1A_ENST00000410103.1_Missense_Mutation_p.A145T	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	145					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCTGGATATGCCAAACCAACC	0.259000													7	130					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42204971	42204971	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:42204971C>T	ENST00000373100.1	+	12	1261	c.801C>T	c.(799-801)agC>agT	p.S267S	SGK2_ENST00000426287.1_Silent_p.S293S|SGK2_ENST00000373077.1_Silent_p.S266S|SGK2_ENST00000341458.4_Silent_p.S327S|SGK2_ENST00000373092.3_Silent_p.S267S|SGK2_ENST00000423407.3_Silent_p.S267S			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	327	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCTGCAAAGCCTTCTCCACA	0.597000													4	57					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927909	95927909	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:95927909G>A	ENST00000258499.3	-	2	412	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	USP44_ENST00000552440.1_Missense_Mutation_p.L42F|USP44_ENST00000393091.2_Missense_Mutation_p.L42F|USP44_ENST00000537435.2_Missense_Mutation_p.L42F	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	42					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAGCAGCTAAGGCAAGCCCAA	0.498000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	47					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35062285	35062285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35062285C>T	ENST00000358901.6	-	8	1769	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	292					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTCTCAGCCTCCTCAAAGGCT	0.463000													5	82					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453229	64453229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64453229C>T	ENST00000265459.6	-	6	1502	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	NRXN2_ENST00000377551.1_Nonsense_Mutation_p.W347*|NRXN2_ENST00000409571.1_Nonsense_Mutation_p.W347*|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.W323*	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	347	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGATGACCAGCCAGACAGCCC	0.607000													7	124					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33634998	33634998	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33634998C>T	ENST00000374316.5	+	16	2704	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	ITPR3_ENST00000605930.1_Silent_p.P548P			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	548					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGAACGCCCCCTACCAGCACA	0.647000													14	34					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170013881	170013881	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:170013881C>T	ENST00000263816.3	-	64	12304	c.12019G>A	c.(12019-12021)Gat>Aat	p.D4007N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4007	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TATACTCTACCTAGACAGGAG	0.368000													13	18					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676338	53676338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:53676338C>T	ENST00000371486.3	+	4	1507	c.992C>T	c.(991-993)cCc>cTc	p.P331L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	331					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GATGACTTCCCCATTAAGGAC	0.507000													27	47					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237358	29237358	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:29237358C>T	ENST00000382535.3	+	2	1242	c.873C>T	c.(871-873)cgC>cgT	p.R291R	FOXG1_ENST00000313071.4_Silent_p.R291R			P55316	FOXG1_HUMAN	forkhead box G1	291				FKRGAR -> AFRWCA (in Ref. 1; CAA52241).|R -> A (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCGGTGCGCGCCTCACCTCCA	0.711000													6	64					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46423311	46423311	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46423311G>A	ENST00000336915.6	-	4	305	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SKAP1_ENST00000584924.1_Missense_Mutation_p.S79F	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	79					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGATGTGAGGGACAGGCCAAG	0.463000													14	34					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325128	12325128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:12325128G>A	ENST00000317702.5	+	4	574	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	114					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GGAGCTGGTGGACGCAGTGCT	0.647000													10	116					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299553	129299553	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:129299553G>A	ENST00000266771.5	-	2	648	c.609C>T	c.(607-609)aaC>aaT	p.N203N	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	203					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCGCTCCCAGGTTAATGCTCC	0.448000													53	206					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128650359	128650359	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:128650359C>T	ENST00000371122.4	-	3	506	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SMARCA1_ENST00000478420.1_Intron|SMARCA1_ENST00000371123.1_Missense_Mutation_p.G126E|SMARCA1_ENST00000371121.3_Missense_Mutation_p.G126E	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	126					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCGGGGACGTCCCAATTTCAT	0.398000													5	144					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493581	71493581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:71493581C>T	ENST00000296755.7	+	5	4697	c.4399C>T	c.(4399-4401)Cca>Tca	p.P1467S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1467						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACTTTGCACCAATAAAAGA	0.413000													34	38					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37902997	37902997	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:37902997G>A	ENST00000199447.4	+	8	759		c.e8-1		EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8						cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTTTTTCATAGTATCCTGAAA	0.294000													41	128					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714367	110714367	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:110714367G>A	ENST00000368924.3	-	5	736	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	DDO_ENST00000368923.3_Missense_Mutation_p.H182Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	213					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGATAAAATGCTCCACCCAG	0.512000													6	140					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113878660	113878660	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:113878660G>A	ENST00000383673.2	-	3	755	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	DRD3_ENST00000467632.1_Silent_p.L109L|DRD3_ENST00000460779.1_Silent_p.L109L|DRD3_ENST00000295881.7_Silent_p.L109L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	109					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	ATGACATCCAGGGTGACAAAA	0.502000													44	84					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132624724	132624724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:132624724G>A	ENST00000397333.3	-	12	1732	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	565	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCCTCGCGCGGTGGCGTCCGT	0.711000													27	51					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194487	36194487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36194487C>T	ENST00000242108.4	+	2	1272	c.554C>T	c.(553-555)gCc>gTc	p.A185V	EEPD1_ENST00000534978.1_Missense_Mutation_p.A185V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	185					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGTATCAATGCCGCCTTCCTG	0.617000													20	84					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46642097	46642097	+	Silent	SNP	C	C	T	rs9983291	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46642097C>T	ENST00000539173.1	+	12	2646	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Silent_p.F737F|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000348831.4_Silent_p.F697F	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	737	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AGGACCAGTTCTCACTCACGC	0.652000													6	13					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270036	36270036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36270036C>T	ENST00000394571.2	+	6	1174	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P306S|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P297S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	392	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTGCCCACCCCACCACCTGG	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	46					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075360	140075360	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140075360C>T	ENST00000323927.2	-	8	1494	c.1490G>A	c.(1489-1491)cGt>cAt	p.R497H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	497					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R497H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTCCGATGAACGCCGCTTGGA	0.652000													7	68					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16254120	16254120	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:16254120G>A	ENST00000339732.5	+	6	1745	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	GALNT15_ENST00000437509.1_Silent_p.R414R	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R414R(1)									CCTGCTCTCGGGTAGGACACA	0.557000													45	41					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193716	28193716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:28193716C>T	ENST00000302326.4	-	1	3770	c.2816G>A	c.(2815-2817)gGc>gAc	p.G939D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	939							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						TCCCCGGCCGCCGCCCCCGGA	0.692000			T	ETV6	"""AML, meningioma"""								7	5					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227985863	227985863	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:227985863C>T	ENST00000396625.3	-	5	401	c.194G>A	c.(193-195)gGt>gAt	p.G65D	COL4A4_ENST00000329662.7_Splice_Site_p.G65D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	65	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGTGGACCCTGAGAAGG	0.502000													13	19					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K.		A -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1035T(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAGCAAGAGGCTTTGGAGTA	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	55					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793177	4793177	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:4793177C>T	ENST00000269856.3	+	1	1450	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	437					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCTTCCTCTCCTTCGCGGAAC	0.607000													57	87					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50197082	50197082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50197082G>A	ENST00000002829.3	+	2	511	c.27G>A	c.(25-27)tgG>tgA	p.W9*	SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.W9*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	9					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTCTTCTCTGGGCTTCCCTAC	0.607000													4	43					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	539903	539903	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:539903G>A	ENST00000239830.4	+	7	762		c.e7+1		CCDC77_ENST00000422000.1_Splice_Site|CCDC77_ENST00000540180.1_Splice_Site|CCDC77_ENST00000540344.1_Splice_Site|CCDC77_ENST00000412006.2_Splice_Site	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77							centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TTCAAAGCAGGTAACAACCAT	0.443000													22	94					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201379544	201379544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201379544C>T	ENST00000361379.4	-	8	568	c.476G>A	c.(475-477)gGt>gAt	p.G159D	TNNI1_ENST00000336092.4_Missense_Mutation_p.G159D|TNNI1_ENST00000367312.1_Missense_Mutation_p.G159D|TNNI1_ENST00000555948.1_Intron	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	159					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CCTCCAGTCACCCACCTCCAC	0.572000													19	39					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18546931	18546931	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:18546931G>A	ENST00000399799.2	-	27	4239	c.3299C>T	c.(3298-3300)tCt>tTt	p.S1100F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.S1100C(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AACACTTGTAGAATCCGAGAG	0.398000													40	68					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150651	128150651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:128150651G>A	ENST00000368250.1	-	4	940	c.442C>T	c.(442-444)Cct>Tct	p.P148S	THEMIS_ENST00000368248.2_Missense_Mutation_p.P227S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P192S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P227S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	227	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCATAAACAGGCTTGAGAATC	0.358000													4	87					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151274394	151274394	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151274394G>A	ENST00000368875.2	-	9	2291	c.1711C>T	c.(1711-1713)Ctg>Ttg	p.L571L	PI4KB_ENST00000368873.1_Silent_p.L559L|PI4KB_ENST00000271657.5_Silent_p.L571L|PI4KB_ENST00000368872.1_Silent_p.L544L|PI4KB_ENST00000368874.4_Silent_p.L544L|PI4KB_ENST00000529142.1_Silent_p.L227L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	559	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGACTGACAGGAGCCGCCAA	0.552000													13	25					0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1027919	1027919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:1027919C>T	ENST00000340150.6	+	8	1004	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	CYP2W1_ENST00000308919.7_Missense_Mutation_p.P384S			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	384					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		ACAGGGCACGCCCGTGATTCC	0.647000													9	23					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24484173	24484173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24484173C>T	ENST00000327535.1	-	7	1022	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.G308D	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GAAGCTGACGCCATCTTCTGT	0.617000													50	78					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897206	61897206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61897206C>T	ENST00000427159.2	-	21	3145	c.2500G>A	c.(2500-2502)Gca>Aca	p.A834T		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	834					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGTTGCTGTGCTCTTTGGTCC	0.532000													16	207					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51101984	51101984	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:51101984A>G	ENST00000324679.4	-	5	1432	c.1069T>C	c.(1069-1071)Tac>Cac	p.Y357H		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	357	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GCTTGTCTGTATGCTTCATAC	0.403000													5	146					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49346223	49346223	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:49346223C>T	ENST00000225298.7	+	4	637	c.580C>T	c.(580-582)Cct>Tct	p.P194S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	194					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GGGAGGAGTACCTGCCTGGGC	0.368000													16	24					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38774273	38774273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38774273G>A	ENST00000301244.7	+	2	548	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_5'UTR	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	38	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCAGACTTCTGCCTGGTGTCG	0.577000													9	109					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17698767	17698767	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:17698767G>A	ENST00000434762.2	+	0	77							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCGAGCCATGTCCTTCCAGA	0.622000													41	91					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53708561	53708561	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53708561G>A	ENST00000209873.4	-	6	684	c.519C>T	c.(517-519)gaC>gaT	p.D173D	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Silent_p.D49D|AAAS_ENST00000394384.3_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	173					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CACGGACTGAGTCATCTAGCA	0.547000													4	14					0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58165018	58165018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:58165018C>T	ENST00000324871.7	-	2	842	c.133G>A	c.(133-135)Gac>Aac	p.D45N	METTL1_ENST00000548681.1_5'UTR|METTL1_ENST00000257848.7_Missense_Mutation_p.D45N	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	45						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TCAGACCAGTCCATCTCCTCT	0.483000													19	33					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94381231	94381231	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:94381231G>A	ENST00000260731.3	+	10	1307		c.e10+1			NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11						blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAATTTTAGGTAAGCCCTTG	0.358000													22	37					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19063014	19063014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19063014C>T	ENST00000380502.3	-	14	2088	c.1621G>A	c.(1621-1623)Gta>Ata	p.V541I	HAUS6_ENST00000380496.1_Missense_Mutation_p.V405I	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	541					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTCTTCTACCAGATGATCT	0.403000													9	162					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96137323	96137323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:96137323C>T	ENST00000453304.1	-	10	2033	c.1685G>A	c.(1684-1686)gGg>gAg	p.G562E	UNC5C_ENST00000506749.1_Missense_Mutation_p.G581E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	562	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTAGACTCTCCCTTGGGGAAT	0.433000													7	37					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144902883	144902883	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:144902883C>T	ENST00000526683.1	-	5	856	c.301G>A	c.(301-303)Gca>Aca	p.A101T	PUF60_ENST00000313352.7_Intron|PUF60_ENST00000527197.1_Intron|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000456095.2_Missense_Mutation_p.A72T|PUF60_ENST00000453551.2_Missense_Mutation_p.A58T|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	101	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCACTGCTGCCATCTGAAAG	0.542000													10	140					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455716	179455716	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179455716C>T	ENST00000589042.1	-	304	60960	c.60736G>A	c.(60736-60738)Gtt>Att	p.V20246I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V11373I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V11181I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V17678I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V18605I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V11306I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18605	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCTCTAACTCGGAAAACA	0.463000													14	182					0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50649271	50649271	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50649271C>T	ENST00000380903.2	+	5	1340	c.1282C>T	c.(1282-1284)Ctc>Ttc	p.L428F	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGCTGGGCCTCGTGCAGGT	0.652000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	92					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476723	75476723	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:75476723C>T	ENST00000459803.1	-	0	633					NR_024241.1													p.G198G(1)									GAAGGACATTCCCTCGGAGCT	0.612000													6	59					0	0	1	0	0
HEBP1	50865	broad.mit.edu	37	12	13142324	13142324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:13142324G>A	ENST00000536942.1	-	2	254	c.104C>T	c.(103-105)gCc>gTc	p.A35V	HEBP1_ENST00000014930.4_Missense_Mutation_p.A35V			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	35					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GCCTTCACAGGCCCTTTCTTC	0.483000													38	62					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919696	12919696	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12919696C>T	ENST00000240189.2	+	3	523	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	146										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGCACCAGCCCTTAAAGGT	0.547000													15	203					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20137549	20137549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:20137549C>T	ENST00000345530.3	-	20	2370	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D	WDR35_ENST00000281405.4_Missense_Mutation_p.G741D|WDR35_ENST00000416055.2_Missense_Mutation_p.G317D	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	752										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAAACCTGCCGAAGTAGCC	0.448000													9	148					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499439	59499439	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:59499439G>A	ENST00000307144.4	+	1	398	c.300G>A	c.(298-300)gtG>gtA	p.V100V	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	100					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTGCCCTTGTGGATCTTGATG	0.438000													4	129					0	0	1	0	0
PDE6G	5148	broad.mit.edu	37	17	79620211	79620211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:79620211G>A	ENST00000573076.1	-	2	750	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Missense_Mutation_p.P42L|PDE6G_ENST00000571004.1_Missense_Mutation_p.P42L|PDE6G_ENST00000331056.5_Missense_Mutation_p.P42L			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	42					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTTCTTTGGGGGCTTGCTCTT	0.637000													12	181					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612926	16612926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:16612926G>A	ENST00000443444.2	+	5	1695	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	CCDC144A_ENST00000399273.1_Missense_Mutation_p.E519K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E519K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E519K|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E518K|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	519																	TTTGAAGAAAGAAGATGTTCA	0.348000													33	95					0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31766136	31766136	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:31766136C>T	ENST00000263694.4	-	2	219	c.201G>A	c.(199-201)ggG>ggA	p.G67G	SNRNP40_ENST00000446633.2_Silent_p.G67G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	67						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTAGACTTCCCCTTCATGTC	0.468000													6	52					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464875	21464875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21464875G>A	ENST00000382985.4	+	13	1293	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	METTL17_ENST00000556670.2_Intron|METTL17_ENST00000339374.6_Intron|RP11-84C10.4_ENST00000557335.1_RNA			Q9H7H0	MET17_HUMAN	methyltransferase like 17	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CGGCAGGTATGGGGGGTGTGA	0.587000													33	71					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285434	100285434	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100285434C>T	ENST00000275732.5	-	3	1447	c.238G>A	c.(238-240)Gag>Aag	p.E80K	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	80										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCGGCTCCAGAGCCAGG	0.677000													5	82					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109935729	109935729	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109935729G>A	ENST00000342494.3	+	10	1414		c.e10+1		UBE3B_ENST00000280774.5_Splice_Site|UBE3B_ENST00000434735.2_Splice_Site	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACCCCTGAGGTAAGCAGGCT	0.458000													25	63					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59949712	59949712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:59949712G>A	ENST00000444766.3	-	20	2791	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*	INTS2_ENST00000251334.6_Nonsense_Mutation_p.Q898*	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	906					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTATTATTCTGGGAAGGCCTA	0.403000													8	17					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470167	99470167	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:99470167C>T	ENST00000370188.3	-	1	421	c.61G>A	c.(61-63)Gca>Aca	p.A21T	LPPR5_ENST00000263177.4_Missense_Mutation_p.A21T|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		21						integral to membrane	hydrolase activity										ACCGTCCCTGCCATGATCACC	0.647000													25	68					0	0	1	0	0
IDI2	91734	broad.mit.edu	37	10	1065557	1065557	+	Missense_Mutation	SNP	G	G	A	rs138472250		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:1065557G>A	ENST00000277517.1	-	5	648	c.584C>T	c.(583-585)cCc>cTc	p.P195L	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	195	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCTTAGCCAGGGGGTGACTTT	0.562000													14	41					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688137	49688137	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49688137G>A	ENST00000296452.4	+	4	1725	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	537					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCTCACAGCAGCCCCCTG	0.657000													12	142					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3623241	3623241	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:3623241G>A	ENST00000407445.3	+	2	89	c.42G>A	c.(40-42)gaG>gaA	p.E14E	RPS7_ENST00000304921.5_Silent_p.E14E|RPS7_ENST00000403564.1_Silent_p.E14E|RPS7_ENST00000406376.1_Silent_p.E14E			P62081	RS7_HUMAN	ribosomal protein S7	14					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CCAATGGCGAGAAGCCGGACG	0.682000													6	53					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70943898	70943898	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:70943898G>A	ENST00000542342.2	-	5	511	c.423C>T	c.(421-423)atC>atT	p.I141I	SLC39A11_ENST00000255559.3_Silent_p.I141I|SLC39A11_ENST00000579732.1_Silent_p.I141I	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	141					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TACCTATCCGGATGGAAAGTT	0.547000													36	71					0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112018679	112018679	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:112018679C>T	ENST00000343534.5	+	2	279	c.29C>T	c.(28-30)cCc>cTc	p.P10L	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.P10L	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	10						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACATGTAAACCCGACACTGGT	0.468000													12	34					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116409886	116409886	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:116409886G>A	ENST00000281928.3	-	26	6093	c.5887C>T	c.(5887-5889)Cca>Tca	p.P1963S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1963					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATTTACCTGGCATCACTACA	0.458000													14	21					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430702	181430702	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:181430702G>A	ENST00000325404.1	+	1	981	c.554G>A	c.(553-555)gGc>gAc	p.G185D	SOX2_ENST00000431565.2_Missense_Mutation_p.G185D	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	185					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CAGCACCCGGGCCTCAATGCG	0.632000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						4	25					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14909805	14909805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:14909805G>A	ENST00000378372.3	+	12	1516	c.1277G>A	c.(1276-1278)aGa>aAa	p.R426K		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	426					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CCAGCTCGAAGACAACACACA	0.483000													5	112					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8868781	8868781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8868781C>T	ENST00000396600.2	+	13	1927	c.989C>T	c.(988-990)aCc>aTc	p.T330I	ABAT_ENST00000425191.2_Missense_Mutation_p.T330I|ABAT_ENST00000567812.1_Missense_Mutation_p.T345I|ABAT_ENST00000569156.1_Missense_Mutation_p.T330I|ABAT_ENST00000268251.8_Missense_Mutation_p.T330I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	330					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GAGGTCCAGACCGGAGGAGGC	0.602000													34	60					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69347566	69347566	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:69347566C>T	ENST00000193403.6	-	17	2477	c.2094G>A	c.(2092-2094)gcG>gcA	p.A698A	ACTN1_ENST00000438964.2_Silent_p.A698A|ACTN1_ENST00000394419.4_Silent_p.A698A|ACTN1_ENST00000538545.2_Silent_p.A698A|ACTN1_ENST00000376839.3_Silent_p.A633A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	698	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.A698A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGAAGATGAGCGCCTCCTGGA	0.582000													17	75					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45694634	45694634	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:45694634C>T	ENST00000305560.6	+	1	106	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.P3S	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	3						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGCGATGGCTCCGGACTCGGA	0.632000													8	22					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079992	23079992	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:23079992C>T	ENST00000219689.7	-	16	3433	c.3434G>A	c.(3433-3435)gGg>gAg	p.G1145E	USP31_ENST00000567975.1_Missense_Mutation_p.G438E	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1145	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTGCTCTTCCCAGGTGGGAA	0.587000													4	64					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113607421	113607421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113607421G>A	ENST00000200135.3	-	15	2284	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	714					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.P714S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ACATAGACTGGAACCTCTTCT	0.393000													47	120					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683836	100683836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100683836C>T	ENST00000306151.4	+	3	9203	c.9139C>T	c.(9139-9141)Cca>Tca	p.P3047S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3047	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGTACTCCATTAACAAG	0.507000													30	676					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10133909	10133909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:10133909C>T	ENST00000383806.1	+	37	3806	c.3728C>T	c.(3727-3729)aCt>aTt	p.T1243I	FANCD2_ENST00000383807.1_Silent_p.D1274D|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000287647.3_Silent_p.D1274D|FANCD2_ENST00000419585.1_Silent_p.D1274D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	0					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTGTTCGAGACTTCAGTATCC	0.448000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	164					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564721	99564721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99564721C>T	ENST00000292401.4	-	4	938	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	268	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCACTGCCACCACCACCCAG	0.637000													6	85					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699564	48699564	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48699564G>A	ENST00000544264.1	-	1	784	c.504C>T	c.(502-504)agC>agT	p.S168S	CELSR3_ENST00000164024.4_Silent_p.S168S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	168					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGGGGCGAGCTGTTCCCCG	0.652000													4	118					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249079	140249079	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140249079C>T	ENST00000398640.2	+	1	391	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACCCGCCGGTGTTCTC	0.542000													5	193					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229311	185229311	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185229311C>T	ENST00000296252.4	-	9	1410		c.e9+1		LIPH_ENST00000424591.2_Splice_Site	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H						lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCTCAGCTCACCTCTCCGGAT	0.453000													19	43					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67473681	67473681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:67473681C>T	ENST00000327367.4	+	6	1071	c.761C>T	c.(760-762)tCc>tTc	p.S254F	SMAD3_ENST00000439724.3_Missense_Mutation_p.S210F|SMAD3_ENST00000540846.2_Missense_Mutation_p.S149F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S59F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	254	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCGCAGCCATCCATGACTGTG	0.602000													23	36					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101636912	101636912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101636912G>A	ENST00000342239.3	-	17	4893	c.4802C>T	c.(4801-4803)aCc>aTc	p.T1601I	DNMBP_ENST00000324109.4_Missense_Mutation_p.T1577I|DNMBP_ENST00000540316.1_Missense_Mutation_p.T513I|DNMBP_ENST00000543621.1_Missense_Mutation_p.T823I			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1577					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTGGGCTCAGGTGTACTCGGT	0.557000													32	56					0	0	1	0	0
TMEM9	252839	broad.mit.edu	37	1	201120894	201120894	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201120894C>T	ENST00000367330.1	-	2	669	c.153G>A	c.(151-153)aaG>aaA	p.K51K	TMEM9_ENST00000485839.2_Silent_p.K51K|TMEM9_ENST00000367333.2_Silent_p.K51K|TMEM9_ENST00000367334.5_Silent_p.K51K|TMEM9_ENST00000367332.1_Silent_p.K54K			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	51					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CTTACCAGTCCTTCTGGGATA	0.468000													11	219					0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118963883	118963883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118963883G>A	ENST00000537841.1	+	14	1216	c.925G>A	c.(925-927)Ggg>Agg	p.G309R	HMBS_ENST00000392841.1_Missense_Mutation_p.G309R|HMBS_ENST00000543090.1_Missense_Mutation_p.G295R|HMBS_ENST00000544387.1_Missense_Mutation_p.G286R|HMBS_ENST00000278715.3_Missense_Mutation_p.G326R|HMBS_ENST00000442944.2_Missense_Mutation_p.G309R|HMBS_ENST00000542729.1_Missense_Mutation_p.G269R			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	326					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CATTCCACGAGGGCCCCAGTT	0.537000													25	48					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001149	58001149	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:58001149C>T	ENST00000564448.1	-	2	102	c.42G>A	c.(40-42)ggG>ggA	p.G14G	CNGB1_ENST00000251102.8_Silent_p.G14G|CNGB1_ENST00000311183.4_Silent_p.G14G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	14					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCCGAGGGGTCCCTGGGGGCT	0.612000													11	34					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140566	50140566	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:50140566A>G	ENST00000371564.3	-	2	433	c.214T>C	c.(214-216)Tac>Cac	p.Y72H	NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.Y52H|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.Y52H|NFATC2_ENST00000396009.3_Missense_Mutation_p.Y72H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	72					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGGGGCTGTATGGCTTGAGG	0.632000													4	69					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115351070	115351070	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:115351070C>T	ENST00000357872.4	+	17	2696	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		858					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAAGATTCAACTTGCTTATGC	0.338000													5	40					0	0	1	0	0
HEBP1	50865	broad.mit.edu	37	12	13128306	13128306	+	Missense_Mutation	SNP	G	G	A	rs141261931	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:13128306G>A	ENST00000014930.4	-	4	664	c.506C>T	c.(505-507)aCg>aTg	p.T169M	HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	169					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTCATAACCCGTGCAGAAGTA	0.572000													4	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641505	179641505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179641505C>T	ENST00000589042.1	-	28	5310	c.5086G>A	c.(5086-5088)Gac>Aac	p.D1696N	TTN_ENST00000360870.5_Missense_Mutation_p.D1696N|TTN_ENST00000342175.6_Missense_Mutation_p.D1650N|TTN_ENST00000460472.2_Missense_Mutation_p.D1650N|TTN_ENST00000342992.6_Missense_Mutation_p.D1696N|TTN_ENST00000591111.1_Missense_Mutation_p.D1696N|TTN_ENST00000359218.5_Missense_Mutation_p.D1650N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1450							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTTTGTCATAGAGATCA	0.473000													9	91					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143090806	143090806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:143090806G>A	ENST00000275815.3	-	16	2740	c.2654C>T	c.(2653-2655)gCc>gTc	p.A885V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	885						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGGGGTTGGCAAGCAGTTG	0.587000													11	51					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108475922	108475922	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:108475922C>T	ENST00000408999.3	+	11	1623	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	RGPD4_ENST00000354986.4_Silent_p.L516L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	516					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCGTTATGCCTGCCCCTTCC	0.388000													19	497					0	0	1	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9910785	9910785	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:9910785C>T	ENST00000377263.1	-	6	548	c.237G>A	c.(235-237)cgG>cgA	p.R79R	CTNNBIP1_ENST00000400904.3_Silent_p.R79R|CTNNBIP1_ENST00000537447.1_Silent_p.R79R|CTNNBIP1_ENST00000377258.1_Silent_p.R79R|CTNNBIP1_ENST00000377256.1_Silent_p.R79R	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	79					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCTACTGCCTCCGGTCTTCCG	0.612000													47	37					0	0	1	0	0
RP11-80F22.9	0	broad.mit.edu	37	16	34712271	34712271	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:34712271G>A	ENST00000569028.2	-	0	1083																											CCCAGGCAAGGGATGGGCTTC	0.552000													8	22					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461956	119461956	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:119461956C>T	ENST00000450136.1	+	2	2096	c.1935C>T	c.(1933-1935)taC>taT	p.Y645Y	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.Y645Y|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	645					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTACAGCTACCATCTGAGAA	0.493000													5	110					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161781150	161781150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:161781150G>A	ENST00000366898.1	-	11	1357	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	PARK2_ENST00000338468.3_Missense_Mutation_p.P228S|PARK2_ENST00000366897.1_Missense_Mutation_p.P391S|PARK2_ENST00000366896.1_Missense_Mutation_p.P270S|PARK2_ENST00000366894.1_Missense_Mutation_p.P228S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	419					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGGCAGCGGGGACAGGGCTTG	0.527000													54	93					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16559036	16559036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16559036G>A	ENST00000375599.3	-	4	915	c.496C>T	c.(496-498)Cct>Tct	p.P166S		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	166	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						ACGACACCAGGGGCCTCACCT	0.597000													18	28					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139234077	139234077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:139234077G>A	ENST00000450536.2	-	16	2370	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	REPS1_ENST00000409812.2_Missense_Mutation_p.P508L|REPS1_ENST00000415951.2_Missense_Mutation_p.P572L|REPS1_ENST00000258062.5_Missense_Mutation_p.P598L|REPS1_ENST00000367663.4_Missense_Mutation_p.P572L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	599	Pro-rich.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGCACAGCAGGACCAGGAGC	0.468000													10	19					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32598912	32598912	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:32598912G>A	ENST00000318709.4	+	10	1272	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	AVL9_ENST00000409301.1_Missense_Mutation_p.G351R|AVL9_ENST00000404479.1_Missense_Mutation_p.G351R	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	351						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGAACAGCTGGGATCAGACCA	0.468000													15	64					0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198636632	198636632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:198636632C>T	ENST00000321801.7	-	6	1033	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	BOLL_ENST00000430004.1_Missense_Mutation_p.G143S|BOLL_ENST00000282278.8_Missense_Mutation_p.G34S|AC011997.1_ENST00000409845.1_Silent_p.T71T|BOLL_ENST00000392296.4_Missense_Mutation_p.G143S|BOLL_ENST00000433157.1_Missense_Mutation_p.G143S	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	143					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TAAGCAACACCATTATGGTAA	0.338000													20	36					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853162	35853162	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:35853162G>A	ENST00000314607.6	+	13	2300	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E	ZMYM4_ENST00000373297.2_Silent_p.E651E	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	740					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGTAAAGGAGACTGTTCGGT	0.338000													8	101					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79679837	79679837	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:79679837G>A	ENST00000275034.4	-	26	3218	c.3051C>T	c.(3049-3051)acC>acT	p.T1017T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1017	Mediates interaction with IRS1 (By similarity).				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGCAGCAAAGGGTAGGTAATC	0.378000													42	58					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150885468	150885468	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:150885468C>T	ENST00000261800.5	-	23	12720	c.12708G>A	c.(12706-12708)cgG>cgA	p.R4236R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4236					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAGGTGCCCGCTTGTTTT	0.637000													44	139					0	0	1	0	0
THEM4	117145	broad.mit.edu	37	1	151847404	151847404	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151847404C>T	ENST00000368814.3	-	6	1032	c.683G>A	c.(682-684)aGc>aAc	p.S228N		NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	228					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATAAATAAGCCTAAACAAAC	0.373000													5	80					0	0	1	0	0
MPDU1	9526	broad.mit.edu	37	17	7487235	7487235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7487235C>T	ENST00000250124.6	+	1	271	c.55C>T	c.(55-57)Cct>Tct	p.P19S	AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000582151.1_Missense_Mutation_p.P19S|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000423172.2_Missense_Mutation_p.P19S|MPDU1_ENST00000396501.4_Missense_Mutation_p.P19S	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	19					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						GATTCTTTTACCTGAGAAATG	0.542000													56	130					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476583	131476583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:131476583C>T	ENST00000291906.4	+	11	1813	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	474	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AATCAGCCCCCCTAAAGGATG	0.647000													8	183					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156851416	156851416	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156851416C>T	ENST00000368196.3	+	16	2475	c.2355C>T	c.(2353-2355)taC>taT	p.Y785Y	NTRK1_ENST00000392302.2_Silent_p.Y755Y|NTRK1_ENST00000524377.1_Silent_p.Y791Y|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Silent_p.Y788Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	791				QQRHSIKDVHARLQALAQAPPVYLDVLG -> SNATASRMC TPGCKPWPRHLLSTWMSWARGPAQGLGVVSRNTGACPQHPP (in Ref. 9; CAA27243).	activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTCCTGTCTACCTGGATGTCC	0.687000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			3	10					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	336113	336113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:336113G>A	ENST00000264819.4	-	2	80	c.70C>T	c.(70-72)Cca>Tca	p.P24S	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCCCTGGGCACAGGCTG	0.652000													5	41					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845385	101845385	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:101845385G>A	ENST00000360264.3	+	18	2861	c.2841G>A	c.(2839-2841)gaG>gaA	p.E947E	CUX1_ENST00000546411.2_Silent_p.E834E|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.E914E|CUX1_ENST00000292535.7_Silent_p.E936E|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.E778E|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.E880E|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	936					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCAGTACGAGGTCTACATGT	0.622000													6	167					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179307020	179307020	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179307020C>T	ENST00000367619.3	+	5	521	c.378C>T	c.(376-378)cgC>cgT	p.R126R	SOAT1_ENST00000539888.1_Silent_p.R61R|SOAT1_ENST00000540564.1_Silent_p.R68R|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	126					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGCAAGGCGCTCTCTCTTAG	0.299000													5	38					0	0	1	0	0
MCEE	84693	broad.mit.edu	37	2	71351533	71351533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:71351533C>T	ENST00000244217.5	-	2	198	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	61					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AATGCTGCAGCCTTTTCCAAA	0.478000													8	146					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137263015	137263015	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:137263015C>T	ENST00000453654.2	-	16	1338		c.e16+1		DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000288490.5_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGTATACCTACCCCTGCATAG	0.308000													4	60					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006329	74006329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74006329C>T	ENST00000301607.3	-	22	3210	c.2957G>A	c.(2956-2958)cGg>cAg	p.R986Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1008Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	986	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGGCCAGCCCGCCGCTTGCC	0.637000													3	64					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64519462	64519462	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64519462C>T	ENST00000164139.3	-	14	2100	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	PYGM_ENST00000377432.3_Missense_Mutation_p.V480M|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	568					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ATCCGCTTCACCTGGATGTCG	0.512000													5	98					0	0	1	0	0
ATP5I	521	broad.mit.edu	37	4	668018	668018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:668018C>T	ENST00000304312.4	-	1	109	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	MYL5_ENST00000506838.1_5'UTR|MYL5_ENST00000505477.1_Intron	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E	7					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2						AGCGGAGAGACCTGCACCGGT	0.677000													4	11					0	0	1	0	0
SMIM21	284274	broad.mit.edu	37	18	73130777	73130777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:73130777G>A	ENST00000584508.1	-	2	342	c.224C>T	c.(223-225)tCt>tTt	p.S75F	RP11-321M21.3_ENST00000579386.1_3'UTR|RP11-321M21.3_ENST00000578340.1_Silent_p.Q57Q|SMIM21_ENST00000382638.3_Intron|SMIM21_ENST00000579022.1_Missense_Mutation_p.S75F					small integral membrane protein 21																		ccagtcttcagaaaccccttg	0.358000													6	72					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116854658	116854658	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:116854658G>A	ENST00000374118.3	-	15	1594	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	586					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCAGGGGAGGTGCAGAAGGT	0.602000													20	44					0	0	1	0	0
NUDT3	11165	broad.mit.edu	37	6	34263428	34263428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:34263428C>T	ENST00000607016.1	-	3	556	c.245G>A	c.(244-246)gGa>gAa	p.G82E	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.G201E	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3											lung(2)	2						CTCAAAAATTCCAACTAATCT	0.333000													5	43					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89782942	89782942	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89782942C>T	ENST00000561976.1	-	3	526	c.149G>A	c.(148-150)gGa>gAa	p.G50E	VPS9D1_ENST00000389386.3_Missense_Mutation_p.G120E|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1-AS1_ENST00000562866.1_RNA					VPS9 domain containing 1																		AGAGAGCTTTCCTCCTTCATC	0.562000													16	218					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41029911	41029911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41029911C>T	ENST00000260385.6	-	9	2206	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S380N					regulator of microtubule dynamics 3																		TTCTAGCCAGCTCAGGTGAGA	0.428000													23	34					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904343	180904343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:180904343G>A	ENST00000367588.4	+	5	1353	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G54E	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	433										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCTCCAGCGGAGAGTCCAGC	0.682000													4	9					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169343674	169343674	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:169343674C>T	ENST00000511577.1	-	16	2492		c.e16+1		DDX60L_ENST00000505890.1_Splice_Site|DDX60L_ENST00000260184.7_Splice_Site			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTGTCATTACCTGCCATGCG	0.383000													3	37					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8175818	8175818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:8175818G>A	ENST00000520004.1	-	6	4331	c.4067C>T	c.(4066-4068)gCc>gTc	p.A1356V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1356V			Q86YV5	SG223_HUMAN		1356							ATP binding|non-membrane spanning protein tyrosine kinase activity										CATCATCAGGGCCCGCTTCAT	0.677000													62	137					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69792543	69792543	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:69792543G>A	ENST00000395198.3	-	7	1016	c.769C>T	c.(769-771)Cta>Tta	p.L257L	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.L257L|HERC4_ENST00000412272.2_Silent_p.L257L|HERC4_ENST00000277817.6_Silent_p.L147L	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	257					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACCTTGGTTAGAGCAGCAGTA	0.289000													6	124					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965679	127965679	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:127965679G>A	ENST00000254730.6	+	2	371	c.317G>A	c.(316-318)gGg>gAg	p.G106E	EEFSEC_ENST00000483457.1_Splice_Site_p.G106E	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	106						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTTATTCCAGGGGCCCAGATC	0.532000													15	204					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261129	134261129	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:134261129G>A	ENST00000457545.2	+	9	1032	c.772G>A	c.(772-774)Gag>Aag	p.E258K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.E230K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	258							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TTCCCTGCTGGAGGATCCCAA	0.468000													5	76					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622482	202622482	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:202622482G>A	ENST00000264276.6	-	5	1486	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	372					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTAAAAGAGGCTAAAATATA	0.383000													8	24					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789078	80789078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80789078G>A	ENST00000269394.3	-	2	2086	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.T19I|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	418						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGTCGGTGGGGCTCGG	0.642000													8	85					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46929867	46929867	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46929867C>T	ENST00000262738.3	-	1	3200	c.3201G>A	c.(3199-3201)cgG>cgA	p.R1067R	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Silent_p.R1067R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1067	Cadherin 8.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATACTCCCGCCGGACCTCAA	0.612000													4	49					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432612	30432612	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30432612C>T	ENST00000375978.3	-	1	808	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	245					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GTAGCTGCTCCCGATGCCTGA	0.602000													10	14					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418898	135418898	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135418898C>T	ENST00000338588.3	-	3	612	c.347G>A	c.(346-348)gGc>gAc	p.G116D	FAM180A_ENST00000415751.1_Missense_Mutation_p.G116D|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	116						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTTGAGGATGCCAGGGTGGCT	0.607000													4	120					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109357017	109357017	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:109357017G>A	ENST00000283195.6	+	7	981	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	285					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTTAGAAATGAAAGGACATT	0.383000													5	404					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13338017	13338017	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:13338017G>A	ENST00000380622.2	-	1	501	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	13	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGCACACAGGAAACCTTCC	0.423000													17	46					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86237980	86237980	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:86237980C>T	ENST00000314673.3	-	20	2171	c.1995G>A	c.(1993-1995)caG>caA	p.Q665Q	SNX14_ENST00000346348.3_Splice_Site_p.Q612Q|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000505648.1_Splice_Site_p.Q613Q|SNX14_ENST00000369627.2_Splice_Site_p.Q656Q	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	665	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GATGTTATACCTGTAGATATT	0.343000													6	82					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43472734	43472734	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43472734G>A	ENST00000372444.2	+	11	1218	c.785G>A	c.(784-786)gGt>gAt	p.G262D	TJAP1_ENST00000372452.1_Missense_Mutation_p.G262D|TJAP1_ENST00000372449.1_Missense_Mutation_p.G272D|TJAP1_ENST00000259751.1_Missense_Mutation_p.G262D|TJAP1_ENST00000438588.2_Missense_Mutation_p.G272D|TJAP1_ENST00000372445.5_Missense_Mutation_p.G272D|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.G262D	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	272						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGTGTCCCAGGTGATCCAGCC	0.652000													23	45					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004800	102004800	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:102004800G>A	ENST00000372735.1	+	4	1462	c.877G>A	c.(877-879)Gat>Aat	p.D293N	BHLHB9_ENST00000457056.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.D293N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D293N|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D293N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	293						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGACCATAGATGAGATTAG	0.473000													44	86					0	0	1	0	0
ETV2	2116	broad.mit.edu	37	19	36134627	36134627	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36134627G>A	ENST00000379026.2	+	4	1210	c.771G>A	c.(769-771)ttG>ttA	p.L257L	ETV2_ENST00000479824.1_Silent_p.L136L|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000403402.1_Silent_p.L229L|ETV2_ENST00000402764.2_Silent_p.L229L			B9EIN1	B9EIN1_HUMAN	ets variant 2	229							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCCAGTTTGGCTCGATGCC	0.652000													21	44					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33148755	33148755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33148755G>A	ENST00000341947.2	-	10	1434	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	COL11A2_ENST00000374714.1_Missense_Mutation_p.P377S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P317S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P343S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P296S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P382S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P322S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P356S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	403	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGCCTTCTGGGCCAGGGGGC	0.547000													4	54					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19341073	19341073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19341073G>A	ENST00000380432.2	+	16	2143	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	DENND4C_ENST00000602925.1_Missense_Mutation_p.A940T|DENND4C_ENST00000434457.2_Missense_Mutation_p.A989T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	704						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAACAGGCAGCAAGAGAATT	0.328000													6	87					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33450622	33450622	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33450622C>T	ENST00000336431.5	-	3	596	c.552G>A	c.(550-552)ctG>ctA	p.L184L		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	184					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTTACCCGCCCAGGCCAGAAC	0.607000													18	36					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104123132	104123132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104123132G>A	ENST00000369983.3	+	16	2253	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	665					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGTGATCTGGAGGAAGCTGT	0.597000													6	78					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25930859	25930859	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:25930859G>A	ENST00000398988.3	+	14	1610		c.e14-1		KSR1_ENST00000319524.6_Splice_Site|KSR1_ENST00000581975.1_Splice_Site|KSR1_ENST00000509603.2_Splice_Site|KSR1_ENST00000268763.6_Splice_Site	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1						Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTTTCCTCCAGACATTTCAGC	0.542000											OREG0024261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587210	42587210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:42587210G>A	ENST00000289957.2	+	5	888	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	254					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGTTCTTGTGTTCTATTT	0.428000													6	62					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2257615	2257615	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:2257615G>A	ENST00000406869.1	-	7	1217	c.660C>T	c.(658-660)gaC>gaT	p.D220D	MAD1L1_ENST00000265854.7_Silent_p.D220D|MAD1L1_ENST00000402746.1_Silent_p.D128D|MAD1L1_ENST00000399654.2_Silent_p.D220D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	220					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCTGCTCGTGGTCTGCTCTTG	0.522000													34	101					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684766	80684766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80684766G>A	ENST00000269373.6	+	6	722	c.649G>A	c.(649-651)Gac>Aac	p.D217N	FN3KRP_ENST00000535965.1_Missense_Mutation_p.D167N	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	217							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACTCCACGGGGACCTCTGGGG	0.537000													4	103					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35540411	35540411	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35540411C>T	ENST00000262626.2	+	4	976	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Silent_p.L51L	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	51					cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCAGGAGCCGCTGTACCCAGG	0.627000													5	12					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65650323	65650323	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65650323C>T	ENST00000528419.1	+	7	697	c.693C>T	c.(691-693)taC>taT	p.Y231Y	CTSW_ENST00000307886.3_Silent_p.Y231Y			P56202	CATW_HUMAN	cathepsin W	231					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCAAGAAGTACCAGAAGGTGG	0.612000													6	74					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203361	69203361	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69203361G>A	ENST00000344157.4	-	3	723	c.388C>T	c.(388-390)Cct>Tct	p.P130S	YTHDC1_ENST00000579690.1_Missense_Mutation_p.P130S|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P130S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	130										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTTTTTTCAGGTTGATTCTTA	0.398000													11	81					0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520178	153520178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:153520178C>T	ENST00000368713.3	-	3	482	c.286G>A	c.(286-288)Gag>Aag	p.E96K	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.E96K	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	96							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGGGGCTCTGAGGGGCAG	0.632000													9	76					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88759831	88759831	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:88759831G>A	ENST00000395102.4	+	3	212	c.102G>A	c.(100-102)gaG>gaA	p.E34E	MEPE_ENST00000361056.3_Silent_p.E34E|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000424957.3_Silent_p.E34E|MEPE_ENST00000511670.1_Silent_p.E34E|MEPE_ENST00000560249.1_5'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	34					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTGTGGAAGAGCAGAGGGTAA	0.348000													11	30					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538302	39538302	+	Missense_Mutation	SNP	C	C	T	rs139387232		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39538302C>T	ENST00000394001.1	-	1	353	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	108	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCTGGCCAGGCGGTCGTTCAG	0.612000													5	141					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531733	31531733	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:31531733C>T	ENST00000215885.3	-	7	1758	c.1506G>A	c.(1504-1506)agG>agA	p.R502R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	502					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACTTCTGCTGCCTGTCGGGTC	0.602000													35	70					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730434	15730434	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15730434C>T	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CAGCCTTTGGCTGCCGTACTA	0.567000													7	27					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171300855	171300855	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:171300855C>T	ENST00000367749.3	+	6	891	c.561C>T	c.(559-561)gtC>gtT	p.V187V	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	187					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCAAACGCGTCTTGGTGATTG	0.468000													4	132					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30617637	30617637	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30617637C>T	ENST00000300415.8	+	9	1411	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR					cerebral cavernous malformation 2-like																		AGTTCCTCCTCCTTGGTGAGC	0.612000													21	49					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134175067	134175067	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:134175067G>A	ENST00000368610.3	+	8	1091	c.1091G>A	c.(1090-1092)aGt>aAt	p.S364N	LRRC27_ENST00000368612.1_Missense_Mutation_p.S364N|LRRC27_ENST00000368613.4_Missense_Mutation_p.S426N|LRRC27_ENST00000432555.2_Missense_Mutation_p.S299N|LRRC27_ENST00000368614.3_Missense_Mutation_p.S426N|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	426										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCACAAGCAAGTAAAGAAATG	0.478000													31	17					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24964251	24964251	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:24964251C>T	ENST00000289968.6	-	11	1034		c.e11+1		ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000441763.2_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTGGCGCTCACCTGCTACAGC	0.493000													38	50					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16769280	16769280	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16769280C>T	ENST00000513610.1	-	10	1417	c.963G>A	c.(961-963)gaG>gaA	p.E321E		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	321	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCGAACTTCCTCCTTGCTGA	0.413000													5	10					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703760	52703760	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:52703760G>A	ENST00000287727.3	+	4	843	c.671G>A	c.(670-672)aGa>aAa	p.R224K	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R224K|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.R224K			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	224					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACAGAGGGGAGATCTGTTAAC	0.393000													47	105					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77757722	77757722	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:77757722C>T	ENST00000310942.4	+	5	584	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	160					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGATCCCATCCGGAAGAAGC	0.642000													13	34					0	0	1	0	0
FEM1C	56929	broad.mit.edu	37	5	114860814	114860814	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:114860814C>T	ENST00000274457.3	-	3	1606	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	349						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CCAGAGTCTGCATAGACAGCG	0.423000													46	74					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359395	125359395	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:125359395G>A	ENST00000278919.3	-	2	513	c.279C>T	c.(277-279)atC>atT	p.I93I	FEZ1_ENST00000366139.3_Silent_p.I93I|FEZ1_ENST00000524435.1_Silent_p.I93I	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	93					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CCTCCTCTTGGATCTGTAACT	0.493000													4	115					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701518	40701518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:40701518C>T	ENST00000372771.4	+	8	1171	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	382					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCTCTTCAACTCAGATCAAG	0.373000													26	68					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883646	28883646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28883646G>A	ENST00000337120.5	+	6	4940	c.1649G>A	c.(1648-1650)gGt>gAt	p.G550D	SH2B1_ENST00000538342.1_Missense_Mutation_p.G214D|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.G240D|SH2B1_ENST00000359285.5_Missense_Mutation_p.G550D|SH2B1_ENST00000322610.8_Missense_Mutation_p.G550D|SH2B1_ENST00000395532.4_Missense_Mutation_p.G550D	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	550	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGCTCCCACGGTGTCTTCCTG	0.622000													16	28					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65300288	65300288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:65300288C>T	ENST00000342505.4	-	25	3670	c.3422G>A	c.(3421-3423)aGc>aAc	p.S1141N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1141	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTTCTGAAAGCTTGTCCGATT	0.338000			Mis		ALL								13	62					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472971	2472971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:2472971G>A	ENST00000258711.6	+	2	832	c.697G>A	c.(697-699)Gtc>Atc	p.V233I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	233					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCTCATGAAGGTCAAGCTCAA	0.617000													23	71					0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662520	3662520	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3662520C>T	ENST00000452079.1	-	0	1366				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1																						TGAAAGGTGGCCGGTGGAGGC	0.592000													17	92					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211465297	211465297	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:211465297G>A	ENST00000233072.5	+	15	1764	c.1568G>A	c.(1567-1569)aGa>aAa	p.R523K	CPS1_ENST00000430249.2_Missense_Mutation_p.R529K|CPS1_ENST00000451903.2_Missense_Mutation_p.R72K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	523					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTATTCAAGAGAGGTGTGCTC	0.363000													29	72					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485671	100485671	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100485671C>T	ENST00000388793.4	+	18	2552	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	SRRT_ENST00000432932.1_Intron|SRRT_ENST00000347433.4_Missense_Mutation_p.P779S|SRRT_ENST00000457580.2_Intron	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	779	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTACTCCCCCCAGGTTTGAC	0.612000													5	90					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273625	14273625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:14273625C>T	ENST00000340736.6	-	6	1300	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D330N	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	335	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCGCTGTCATCATCCACGTAC	0.607000													17	26					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64005671	64005671	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64005671C>T	ENST00000443617.2	-	23	4431	c.4344G>A	c.(4342-4344)cgG>cgA	p.R1448R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1448					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACAGGGCACACCGATGGATCA	0.502000													22	59					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187830	7187830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7187830G>A	ENST00000317370.8	+	7	1022	c.754G>A	c.(754-756)Gat>Aat	p.D252N	SLC2A4_ENST00000424875.2_Missense_Mutation_p.D242N|SLC2A4_ENST00000571308.1_Missense_Mutation_p.D252N	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	252					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGGCTGGGCCGATGTTTCTGG	0.637000													20	43					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55489563	55489563	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:55489563C>T	ENST00000394600.3	-	6	956	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000263629.4_Splice_Site_p.E74K|MTIF2_ENST00000403721.1_Splice_Site_p.E74K	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	74					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGTCCTTCTTCCTATTAAAAA	0.323000													25	58					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103188668	103188668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:103188668G>A	ENST00000262241.6	+	11	1560	c.1334G>A	c.(1333-1335)gGt>gAt	p.G445D	RCOR1_ENST00000570597.1_Missense_Mutation_p.G442D	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	442					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GCAGAACATGGTAAAGAAGAG	0.413000													5	119					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257488	114257488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:114257488C>T	ENST00000306507.5	+	1	828	c.655C>T	c.(655-657)Cct>Tct	p.P219S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	219	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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCACCCCTTCCCTCTACCTGC	0.692000													36	59					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474673	82474673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:82474673G>A	ENST00000333891.9	-	13	14297	c.13960C>T	c.(13960-13962)Cct>Tct	p.P4654S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4654S|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGATGTAGGACCTGAATGA	0.517000													3	48					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51470480	51470480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:51470480C>T	ENST00000376851.3	-	3	581	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	KLK6_ENST00000594641.1_Missense_Mutation_p.G48S|KLK6_ENST00000376853.4_Missense_Mutation_p.G48S|KLK6_ENST00000310157.2_Missense_Mutation_p.G48S|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000391808.1_5'UTR	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	48	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGGACCCCACCACAGAGCAAG	0.557000													5	70					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20591959	20591959	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:20591959C>T	ENST00000202677.7	-	14	1807	c.1800G>A	c.(1798-1800)agG>agA	p.R600R		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAAGACTTACCCTAAATAGTA	0.323000													11	157					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888022	26888022	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:26888022C>T	ENST00000374168.2	+	17	1612	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	RPS6KA1_ENST00000526792.1_Silent_p.Y394Y|RPS6KA1_ENST00000374166.4_Silent_p.Y475Y|RPS6KA1_ENST00000531382.1_Silent_p.Y495Y|RPS6KA1_ENST00000530003.1_Silent_p.Y470Y|RPS6KA1_ENST00000374162.2_Silent_p.Y394Y	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	486	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACACGTGTACCTGGTGACAG	0.602000													13	105					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947947	35947947	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:35947947G>A	ENST00000216127.4	+	3	1311	c.669G>A	c.(667-669)aaG>aaA	p.K223K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	223	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GCCGCGTCAAGGAGATGGACG	0.642000													5	55					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122782781	122782781	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:122782781C>T	ENST00000264499.4	-	4	402	c.219G>A	c.(217-219)ggG>ggA	p.G73G	BBS7_ENST00000506636.1_Silent_p.G73G	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	73					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGTTGATAACCCCTCCCAGTT	0.408000									Bardet-Biedl syndrome				8	104					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964506	88964506	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:88964506G>A	ENST00000333190.4	+	4	2819	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	737						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATAGCAGAGGTAATTTGCTC	0.393000										HNSCC(36;0.09)			12	93					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438851	84438851	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:84438851G>A	ENST00000416219.2	+	3	416		c.e3+1		ATP2C2_ENST00000262429.4_Splice_Site			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2						ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTGGATCAGGTAGGACCAGA	0.532000													14	25					0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127812	219127812	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219127812G>A	ENST00000522678.1	+	2	1233	c.365G>A	c.(364-366)gGg>gAg	p.G122E	GPBAR1_ENST00000521462.1_Missense_Mutation_p.G122E|GPBAR1_ENST00000479077.1_Missense_Mutation_p.G122E|GPBAR1_ENST00000519574.1_Missense_Mutation_p.G122E	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	122						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCCCCCTGGGAGCATTCGG	0.647000													6	65					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897141	51897141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51897141G>A	ENST00000333127.3	+	3	279	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	84										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGTCGAGGGTGCTGGAGAA	0.627000													22	53					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483983	15483983	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15483983C>T	ENST00000269701.2	-	5	600	c.540G>A	c.(538-540)cgG>cgA	p.R180R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	180					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CAAGGGAGCCCCGCTCCCGGG	0.682000													3	35					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584849	51584849	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51584849G>A	ENST00000452682.1	+	9	1248	c.996G>A	c.(994-996)aaG>aaA	p.K332K	NCOA4_ENST00000374087.4_Silent_p.K316K|NCOA4_ENST00000443446.1_Silent_p.K316K|NCOA4_ENST00000374082.1_Silent_p.K316K|NCOA4_ENST00000414907.2_Silent_p.K150K|NCOA4_ENST00000430396.2_Silent_p.K216K|NCOA4_ENST00000344348.6_Silent_p.K316K|NCOA4_ENST00000438493.1_Silent_p.K332K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	316					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGCTGCGGAAGCCTGAGAATG	0.448000			T	RET	papillary thyroid								36	64					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112304954	112304954	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:112304954G>A	ENST00000369702.4	+	8	1719	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	367	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTTCCACAGATTTGGTAAA	0.353000													22	51					0	0	1	0	0
GATC	283459	broad.mit.edu	37	12	120884600	120884600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120884600G>A	ENST00000551806.1	+	3	316	c.316G>A	c.(316-318)Ggt>Agt	p.G106S	GATC_ENST00000551765.1_Silent_p.G74G																							ACACAGACGGGGTGGAGCCCA	0.637000													10	54					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48787319	48787319	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:48787319C>T	ENST00000316623.5	-	22	3133		c.e22+1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTTCTCTTACCAACTTGGCA	0.493000													23	37					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172376968	172376968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:172376968C>T	ENST00000358155.4	+	21	2755	c.2579C>T	c.(2578-2580)tCc>tTc	p.S860F	PIGC_ENST00000484368.1_Intron|DNM3_ENST00000355305.5_Missense_Mutation_p.S866F|DNM3_ENST00000367731.1_Missense_Mutation_p.S856F	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	866					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTAGAATCCTCCCTGTTAGAC	0.413000													4	113					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2981407	2981407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:2981407C>T	ENST00000342628.2	-	3	622	c.509G>A	c.(508-510)gGt>gAt	p.G170D	FOXM1_ENST00000361953.3_Missense_Mutation_p.G170D|FOXM1_ENST00000359843.3_Missense_Mutation_p.G170D|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	170					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGCTGCCTCACCATCTGCTAG	0.532000													5	153					0	0	1	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508842	102508842	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:102508842G>A	ENST00000372685.3	-	3	302	c.66C>T	c.(64-66)cgC>cgT	p.R22R	TCEAL8_ENST00000360000.4_Silent_p.R22R	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						CCTCCAAAGGGCGATCTTCCT	0.448000													56	141					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112530930	112530930	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112530930G>A	ENST00000261745.4	-	2	317	c.69C>T	c.(67-69)gaC>gaT	p.D23D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	23						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TATTACCATTGTCAAGATAAT	0.294000													4	66					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442802	114442802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114442802G>A	ENST00000369569.1	-	5	1118	c.838C>T	c.(838-840)Cct>Tct	p.P280S	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.P187S|AP4B1_ENST00000256658.4_Missense_Mutation_p.P280S|AP4B1_ENST00000369567.1_Missense_Mutation_p.P112S	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	280					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTAGCAAAGGTCCCTTGACC	0.483000													4	83					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	459933	459933	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:459933C>T	ENST00000280886.6	-	8	1064	c.977G>A	c.(976-978)aGg>aAg	p.R326K	DIP2C_ENST00000381496.3_Missense_Mutation_p.R219K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	326						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTGCCCCACCTCTGCAGTGC	0.657000													8	71					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672790	10672790	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:10672790G>A	ENST00000302079.6	-	50	7713	c.7714C>T	c.(7714-7716)Ctg>Ttg	p.L2572L	PIEZO2_ENST00000580640.1_Silent_p.L2660L|PIEZO2_ENST00000285141.4_Silent_p.L427L|PIEZO2_ENST00000503781.3_Silent_p.L2635L|PIEZO2_ENST00000538948.1_Silent_p.L592L|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2635						integral to membrane	ion channel activity										TTTCCAGTCAGGTTGAGAACC	0.428000													26	72					0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107521927	107521927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:107521927C>T	ENST00000542267.1	-	6	2042	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	FBXL17_ENST00000496714.1_Missense_Mutation_p.D148N|FBXL17_ENST00000359660.5_Missense_Mutation_p.D148N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	546										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TGACGTAGGTCCAAGCTGGAA	0.348000													3	44					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812805	73812805	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73812805C>T	ENST00000332687.6	-	4	563	c.345G>A	c.(343-345)ggG>ggA	p.G115G	RLIM_ENST00000349225.2_Silent_p.G115G	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	115					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCCTCTTTGCCCACTTCTTG	0.398000													11	102					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43203982	43203982	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43203982G>A	ENST00000296387.1	-	3	581	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	CLDN19_ENST00000372539.3_Missense_Mutation_p.L131F|CLDN19_ENST00000539749.1_Intron	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	131					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAAGTGCAGAGGCCTAAAGAC	0.617000													26	37					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151629	11151629	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11151629C>T	ENST00000544779.1	-	4	403	c.398G>A	c.(397-399)gGt>gAt	p.G133D	EXOSC10_ENST00000376936.4_Missense_Mutation_p.G133D|EXOSC10_ENST00000304457.7_Missense_Mutation_p.G133D			Q01780	EXOSX_HUMAN	exosome component 10	133					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CTTGTTTACACCTGAGGCTTC	0.443000													4	42					0	0	1	0	0
UBE2K	3093	broad.mit.edu	37	4	39739109	39739109	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:39739109G>A	ENST00000261427.5	+	2	417	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UBE2K_ENST00000445950.2_Missense_Mutation_p.G45R|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000295963.6_Missense_Mutation_p.G45R|UBE2K_ENST00000503368.1_Intron	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	45					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						AGAAATAGCAGGACCTCCAGA	0.289000													4	71					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541459	55541459	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55541459C>T	ENST00000361760.1	+	1	546	c.546C>T	c.(544-546)gaC>gaT	p.D182D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATCTGTGACCACTCTGTAA	0.393000													33	85					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203045502	203045502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:203045502C>T	ENST00000367240.2	+	29	4072	c.3545C>T	c.(3544-3546)tCc>tTc	p.S1182F	PPFIA4_ENST00000414050.2_Missense_Mutation_p.S910F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S688F|PPFIA4_ENST00000594572.1_Intron|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S1181F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S688F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S697F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	697					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACATGCTCTCCGCCTTCCGG	0.612000													6	95					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104233389	104233389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104233389G>A	ENST00000238936.4	+	8	1225	c.988G>A	c.(988-990)Ggc>Agc	p.G330S	TMEM180_ENST00000366277.2_Missense_Mutation_p.G59S	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	330						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGGCGCTGGGGCGTCTACGC	0.642000													37	84					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495194	96495194	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96495194C>T	ENST00000285979.6	+	9	1665	c.1466C>T	c.(1465-1467)cCt>cTt	p.P489L	CYP2C18_ENST00000339022.5_Missense_Mutation_p.P430L|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGCTTCATTCCTGTCTGAAGA	0.498000													17	82					0	0	1	0	0
NXT1	29107	broad.mit.edu	37	20	23334701	23334701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:23334701C>T	ENST00000254998.2	+	2	410	c.23C>T	c.(22-24)aCc>aTc	p.T8I		NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	8						cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GATTTCAAGACCTATGTGGAT	0.552000													4	82					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17062131	17062131	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:17062131G>A	ENST00000395811.5	+	14	1950	c.1861G>A	c.(1861-1863)Ggg>Agg	p.G621R	MPRIP_ENST00000444976.1_Missense_Mutation_p.G583R|MPRIP_ENST00000341712.4_Missense_Mutation_p.G621R|MPRIP_ENST00000395804.3_Missense_Mutation_p.G621R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	621	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCGGAGCCCAGGGCTGCCTAT	0.647000													11	66					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781381	128781381	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:128781381C>T	ENST00000529694.1	+	2	589	c.213C>T	c.(211-213)taC>taT	p.Y71Y	KCNJ5_ENST00000533599.1_Silent_p.Y71Y|KCNJ5_ENST00000338350.4_Silent_p.Y71Y	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	71					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGGAGACCTACCGGTACCTGA	0.592000													31	65					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74411090	74411090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:74411090C>T	ENST00000263665.6	-	10	1342	c.1315G>A	c.(1315-1317)Gca>Aca	p.A439T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	439	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAAGAGAGTGCCCTTGGGGAG	0.478000													5	81					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657567	1657567	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1657567C>T	ENST00000324015.3	+	10	1292	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	SERPINF2_ENST00000450523.2_Silent_p.S341S|SERPINF2_ENST00000382061.4_Silent_p.S405S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	405		Reactive bond for chymotrypsin.			acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CCCGCATGTCCCTGTCCTCCT	0.657000													55	86					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91636358	91636358	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:91636358C>T	ENST00000518868.1	+	8	959	c.269C>T	c.(268-270)cCc>cTc	p.P90L	C14orf159_ENST00000412671.2_Missense_Mutation_p.P90L|C14orf159_ENST00000256324.10_Missense_Mutation_p.P90L|C14orf159_ENST00000521077.2_Missense_Mutation_p.P90L|C14orf159_ENST00000428926.2_Missense_Mutation_p.P90L|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000522322.1_Missense_Mutation_p.P90L|C14orf159_ENST00000523771.1_Missense_Mutation_p.P90L|C14orf159_ENST00000520328.1_Missense_Mutation_p.P90L|C14orf159_ENST00000523816.1_Missense_Mutation_p.P90L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	90						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ATGGGCCATCCCCAGTTCTGG	0.582000													13	53					0	0	1	0	0
VSIG8	391123	broad.mit.edu	37	1	159827596	159827596	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:159827596G>A	ENST00000368100.1	-	4	726	c.591C>T	c.(589-591)tcC>tcT	p.S197S		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	197	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AGCTGTGCTGGGAGGTGTAAG	0.597000													12	28					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11150715	11150715	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11150715C>T	ENST00000544779.1	-	6	659	c.654G>A	c.(652-654)aaG>aaA	p.K218K	EXOSC10_ENST00000376936.4_Silent_p.K218K|EXOSC10_ENST00000304457.7_Silent_p.K218K			Q01780	EXOSX_HUMAN	exosome component 10	218					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCCGCCTTTCCTTAGAGAGAG	0.502000													7	21					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920121	154920121	+	Silent	SNP	C	C	T	rs143585143	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:154920121C>T	ENST00000368463.3	-	8	806	c.735G>A	c.(733-735)agG>agA	p.R245R	PBXIP1_ENST00000368460.3_Silent_p.R214R|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Silent_p.R216R|PBXIP1_ENST00000539880.1_Silent_p.R72R|PBXIP1_ENST00000542459.1_Silent_p.R90R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	245					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACATACCTGCCTGTCCCCCA	0.622000													23	57					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827946	72827946	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:72827946C>T	ENST00000268489.5	-	9	9307	c.8635G>A	c.(8635-8637)Gcc>Acc	p.A2879T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1965T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2879					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCATCATGGCCGCTTTGGTC	0.502000													33	65					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144074950	144074950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:144074950G>A	ENST00000427704.2	+	4	452	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PHACTR2_ENST00000367584.4_Missense_Mutation_p.E176K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E108K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E119K|PHACTR2_ENST00000397980.3_Missense_Mutation_p.E119K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E119K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	108							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CATCGGAGAGGAATCTACCCG	0.418000													18	34					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235278	57235278	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:57235278G>A	ENST00000335099.3	+	2	545	c.228G>A	c.(226-228)cgG>cgA	p.R76R	RTN4RL2_ENST00000533205.1_Silent_p.R76R|RTN4RL2_ENST00000395120.2_Silent_p.R76R	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	76					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCACGCTGCGGCCAGGCACCT	0.622000													39	64					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84961597	84961597	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:84961597T>C	ENST00000370654.5	+	7	747	c.732T>C	c.(730-732)ccT>ccC	p.P244P		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	244	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AACACATACCTGAAATAATTC	0.378000													23	42					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170607	42170607	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42170607C>T	ENST00000320955.6	-	17	3630	c.3403G>A	c.(3403-3405)Gcc>Acc	p.A1135T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1135					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGAGCCGAGGCCACATCCACT	0.627000													10	23					0	0	1	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550555	22550555	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22550555G>A	ENST00000390285.3	+	0	318																											ACCCTCTGGGGTCCCTGATCG	0.572000													11	30					0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641266	161641266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:161641266G>A	ENST00000367962.4	+	3	345	c.218G>A	c.(217-219)gGg>gAg	p.G73E	FCGR2B_ENST00000403078.3_Missense_Mutation_p.G73E|FCGR2B_ENST00000358671.5_Missense_Mutation_p.G73E|FCGR2B_ENST00000367960.5_Missense_Mutation_p.G66E|FCGR2B_ENST00000236937.9_Missense_Mutation_p.G73E|FCGR2B_ENST00000428605.2_Missense_Mutation_p.G73E|FCGR2B_ENST00000367961.4_Missense_Mutation_p.G66E			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	73	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACATGCCGGGGGACTCACAGC	0.577000			T	?	ALL								20	35					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793506	65793506	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65793506G>A	ENST00000312106.5	-	1	482	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	115	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTCATCATGGTAGTCCTCAC	0.607000													25	79					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28749894	28749894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:28749894C>T	ENST00000225719.4	+	5	1586	c.1510C>T	c.(1510-1512)Cac>Tac	p.H504Y	CPD_ENST00000543464.2_Missense_Mutation_p.H257Y	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	504	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTTCACCACCACCATTTCCC	0.423000													30	122					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58743471	58743471	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:58743471C>T	ENST00000245206.5	-	9	1148	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	GOT2_ENST00000434819.2_Splice_Site_p.W297*	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	340					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTCTTGCAGCCTGTAAAGAA	0.507000													14	281					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	C7orf25_ENST00000438029.1_Silent_p.Q221Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433000													40	112					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746917	121746917	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:121746917C>T	ENST00000452319.1	+	14	3487	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	GLI2_ENST00000314490.11_Missense_Mutation_p.P815S|GLI2_ENST00000361492.4_Missense_Mutation_p.P1143S			P10070	GLI2_HUMAN	GLI family zinc finger 2	1143					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAATAACATGCCTGTGCAGTG	0.632000													13	25					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156819108	156819108	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156819108C>T	ENST00000368195.3	-	6	1770	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	458					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCTGTCACCTCCTCCAGTC	0.647000													17	69					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57803513	57803513	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:57803513C>T	ENST00000379655.4	-	9	1469	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	KIFC3_ENST00000421376.2_Silent_p.K265K|KIFC3_ENST00000539578.1_Silent_p.K346K|KIFC3_ENST00000445690.2_Silent_p.K404K|KIFC3_ENST00000541240.1_Silent_p.K426K|KIFC3_ENST00000543930.1_Silent_p.K265K|KIFC3_ENST00000540079.2_Silent_p.K302K|KIFC3_ENST00000465878.2_Silent_p.K265K|KIFC3_ENST00000562903.1_Silent_p.K265K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	404					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)				TCACCTCGGCCTTGACACTCC	0.657000													13	18					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516650	158516650	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158516650C>T	ENST00000355585.4	+	27	3820	c.3745C>T	c.(3745-3747)Ccc>Tcc	p.P1249S	SYNJ2_ENST00000367112.1_Splice_Site_p.P334S|SYNJ2_ENST00000367122.2_Splice_Site_p.P1204S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1249	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTTCTCAGCCCCTGTCACC	0.527000													34	79					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7727295	7727295	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:7727295C>T	ENST00000338316.4	+	14	1881	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	ADCY2_ENST00000537121.1_Missense_Mutation_p.P418S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	598					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACGGCACTGCCAGCGTTCAA	0.502000													11	41					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655733	19655733	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19655733C>T	ENST00000586018.1	+	8	2499	c.2397C>T	c.(2395-2397)ctC>ctT	p.L799L	CILP2_ENST00000291495.5_Silent_p.L793L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	793						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGCCTGCCTCCCCGCCTTCT	0.741000													9	8					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41688825	41688825	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41688825C>T	ENST00000260361.4	-	2	814	c.433G>A	c.(433-435)Gga>Aga	p.G145R		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	145					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTTCTGCCTCCAATCGTCTTA	0.488000													4	89					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45814909	45814909	+	Missense_Mutation	SNP	C	C	T	rs143494717		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:45814909C>T	ENST00000320560.8	+	18	2475	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F	ANO6_ENST00000441606.2_Missense_Mutation_p.S740F|ANO6_ENST00000435642.1_Missense_Mutation_p.S758F|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.S779F|ANO6_ENST00000425752.2_Missense_Mutation_p.S758F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	758					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TACTACTGGTCCTTCTCCGTC	0.453000													6	93					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557000													5	30					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31426282	31426282	+	Silent	SNP	C	C	T	rs144306080	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:31426282C>T	ENST00000389202.2	+	18	2302	c.2253C>T	c.(2251-2253)gcC>gcT	p.A751A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	751					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGCTGGCCGTGGGCTCAC	0.537000													7	66					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32953609	32953609	+	Nonsense_Mutation	SNP	G	G	A	rs80359731		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:32953609G>A	ENST00000544455.1	+	22	9137	c.8910G>A	c.(8908-8910)tgG>tgA	p.W2970*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.W2970*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2970					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAACCGTGTGGAAGTTGCGTA	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			20	48					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47676487	47676487	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:47676487C>T	ENST00000273857.4	-	10	1279	c.1280G>A	c.(1279-1281)aGa>aAa	p.R427K	CORIN_ENST00000508498.1_Missense_Mutation_p.R288K|CORIN_ENST00000505909.1_Missense_Mutation_p.R390K|CORIN_ENST00000504584.1_Missense_Mutation_p.R390K|CORIN_ENST00000502252.1_Missense_Mutation_p.R360K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	427					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTAGAGGCATCTTTGGTCTCC	0.428000													44	44					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56087678	56087678	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:56087678C>T	ENST00000608263.1	-	7	2122	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	CTCFL_ENST00000429804.3_Silent_p.K437K|CTCFL_ENST00000608440.1_Silent_p.K487K|CTCFL_ENST00000608903.1_Silent_p.K225K|CTCFL_ENST00000609232.1_Silent_p.K487K|CTCFL_ENST00000502686.2_Silent_p.K225K|CTCFL_ENST00000371196.2_Silent_p.K487K|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000423479.3_Silent_p.K487K|CTCFL_ENST00000243914.3_Silent_p.K487K|CTCFL_ENST00000539382.1_Silent_p.K282K|CTCFL_ENST00000433949.3_Silent_p.K282K|CTCFL_ENST00000608425.1_Silent_p.K487K|CTCFL_ENST00000422869.2_Silent_p.K487K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGTGTTTGCACTTGAACCTCT	0.473000													29	49					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200633100	200633100	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200633100C>T	ENST00000447706.2	-	3	1070	c.919G>A	c.(919-921)Gta>Ata	p.V307I	DDX59_ENST00000367348.3_Missense_Mutation_p.V307I|DDX59_ENST00000331314.6_Missense_Mutation_p.V307I			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	307	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGCCCCCTACAAGAAGCACA	0.428000													15	45					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52172272	52172272	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52172272G>A	ENST00000394970.2	-	7	1043	c.726C>T	c.(724-726)aaC>aaT	p.N242N	POC1A_ENST00000474012.1_Silent_p.N204N|POC1A_ENST00000296484.2_Silent_p.N242N	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	242						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGATCAGGTAGTTTCCCGACG	0.602000													16	16					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668380	71668380	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71668380C>T	ENST00000268485.3	+	3	924	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	294	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGTGTCCTGCGGGTCCCGTG	0.587000													18	47					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348817	49348817	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49348817C>T	ENST00000263265.6	-	15	2178	c.1623G>A	c.(1621-1623)ggG>ggA	p.G541G	PLEKHA4_ENST00000355496.5_Silent_p.G516G	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	541						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAGGAGGCCGCCCCCAGTCAG	0.562000													28	41					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38055908	38055908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:38055908C>T	ENST00000261439.4	+	12	2354	c.1999C>T	c.(1999-2001)Ctc>Ttc	p.L667F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.L761F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	667						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAGATATTCCTCCGAGTAGC	0.502000													60	77					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666517	117666517	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:117666517G>A	ENST00000223795.2	-	4	512	c.399C>T	c.(397-399)atC>atT	p.I133I	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	133					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGGGAATTGGATCACCAGAT	0.413000													43	69					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87724901	87724901	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:87724901C>T	ENST00000436978.1	+	43	7040	c.6560C>T	c.(6559-6561)cCt>cTt	p.P2187L	PTPN13_ENST00000427191.2_Missense_Mutation_p.P2163L|PTPN13_ENST00000411767.2_Missense_Mutation_p.P2182L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P2187L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P1991L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2182						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCTGTACTCCCTGTCGTCAAA	0.423000													6	117					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237558	33237558	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33237558C>T	ENST00000401073.2	+	6	2848	c.2778C>T	c.(2776-2778)ccC>ccT	p.P926P	KIAA1522_ENST00000373481.3_Silent_p.P878P|KIAA1522_ENST00000373480.1_Silent_p.P867P|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	867	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTGCCCCCTCCTCAGGGC	0.706000													3	16					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214543031	214543031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:214543031C>T	ENST00000366956.5	-	17	3234	c.3040G>A	c.(3040-3042)Ggt>Agt	p.G1014S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1014	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTTCGTCCACCCTCCTAAATC	0.428000													9	78					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264590	67264590	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67264590G>A	ENST00000258201.4	-	18	3019	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	924	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGGCACGCAGGGCTGGGGCCA	0.652000													31	142					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809515	48809515	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:48809515C>T	ENST00000309835.3	+	1	1753	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	STON1_ENST00000406226.1_Silent_p.A581A|STON1-GTF2A1L_ENST00000309827.2_Silent_p.A581A|STON1_ENST00000404752.1_Silent_p.A581A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A581A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A581A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A581A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A581A					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGATCAAGGCCCTTTGGACCA	0.493000													50	56					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12288108	12288108	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:12288108C>T	ENST00000261349.4	-	17	3810		c.e17+1		BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Splice_Site|LRP6_ENST00000540415.1_Splice_Site	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6						cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACATATTTACCTCCACATGA	0.408000													14	91					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36445834	36445834	+	Missense_Mutation	SNP	G	G	A	rs28657426		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36445834G>A	ENST00000265748.2	+	4	753	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ANLN_ENST00000396068.2_Missense_Mutation_p.E178K	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	178	Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCATCAGAGGAAAAGGCTGC	0.458000													27	84					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116398544	116398544	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116398544C>T	ENST00000397752.3	+	9	2334	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S	MET_ENST00000318493.6_Missense_Mutation_p.P712S|MET_ENST00000436117.2_Missense_Mutation_p.P712S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	712	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGTTATACCCCAGCCCAAAC	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				54	267					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361381	105361381	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:105361381G>A	ENST00000297581.2	+	2	650	c.601G>A	c.(601-603)Gca>Aca	p.A201T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A201T	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	201					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GTACCAGATGGCAACAACCAC	0.547000													10	118					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160031627	160031627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:160031627C>T	ENST00000263635.6	+	12	1904	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	TANC1_ENST00000454300.1_Missense_Mutation_p.S450F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	556						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGCCTCCGATCCTGTGTGCAG	0.582000													57	94					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323752	2323752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:2323752C>T	ENST00000263092.6	-	10	1328	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	METTL16_ENST00000538844.1_Missense_Mutation_p.D183N|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16								methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TGAATGACGTCCTCAGGAGCT	0.547000													42	92					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	336854	336854	+	Missense_Mutation	SNP	C	C	T	rs138762531	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:336854C>T	ENST00000219406.6	+	10	1460	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	PDIA2_ENST00000404312.1_Missense_Mutation_p.T478I	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	481	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TACAAAAGCACCAGGGACCTG	0.652000													11	15					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116741093	116741093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:116741093C>T	ENST00000375300.1	-	14	1767	c.1762G>A	c.(1762-1764)Gac>Aac	p.D588N	SIK3_ENST00000434315.2_Missense_Mutation_p.D429N|SIK3_ENST00000292055.4_Missense_Mutation_p.D530N|SIK3_ENST00000542607.1_Missense_Mutation_p.D482N|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.D540N			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	530						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCTCCTCGTCCACAGGGGTA	0.562000											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	32					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3236023	3236023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:3236023G>A	ENST00000217939.6	-	6	5853	c.5699C>T	c.(5698-5700)aCc>aTc	p.T1900I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1900	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGTATCCTGGTATTCGGAGT	0.443000													18	24					0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494027	139494027	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139494027G>A	ENST00000331327.3	+	1	320	c.261G>A	c.(259-261)aaG>aaA	p.K87K		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	87					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCCTGAAGATCGCCGAGG	0.627000													6	18					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971004	123971004	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:123971004A>T	ENST00000369005.1	+	9	7404	c.7064A>T	c.(7063-7065)aAa>aTa	p.K2355I	TACC2_ENST00000369000.1_Missense_Mutation_p.K59I|TACC2_ENST00000515603.1_Missense_Mutation_p.K2310I|TACC2_ENST00000369004.3_Missense_Mutation_p.K433I|TACC2_ENST00000360561.3_Missense_Mutation_p.K433I|TACC2_ENST00000515273.1_Missense_Mutation_p.K2359I|TACC2_ENST00000334433.3_Missense_Mutation_p.K2355I|TACC2_ENST00000513429.1_Missense_Mutation_p.K501I|TACC2_ENST00000260733.3_Missense_Mutation_p.K433I|TACC2_ENST00000368999.1_Missense_Mutation_p.K433I|TACC2_ENST00000453444.2_Missense_Mutation_p.K2359I|TACC2_ENST00000369001.1_Missense_Mutation_p.K59I|TACC2_ENST00000358010.1_Missense_Mutation_p.K501I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2355	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCACCTCAAAAATGCAGGAG	0.463000													99	25					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168506	36168506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:36168506C>T	ENST00000357641.6	+	2	660	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BRPF3_ENST00000534400.1_Missense_Mutation_p.A136V|BRPF3_ENST00000443324.2_Missense_Mutation_p.A136V|BRPF3_ENST00000534694.1_Missense_Mutation_p.A136V|BRPF3_ENST00000543502.1_Missense_Mutation_p.A136V|BRPF3_ENST00000339717.7_Missense_Mutation_p.A136V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	136					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGCCTGCTGCCTACTACCGC	0.562000													18	37					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7838346	7838346	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7838346C>T	ENST00000380262.3	+	4	1402	c.477C>T	c.(475-477)gcC>gcT	p.A159A	CNTROB_ENST00000380255.3_Silent_p.A159A|CNTROB_ENST00000565740.1_Silent_p.A159A|CNTROB_ENST00000563694.1_Silent_p.A159A	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	159					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTAGCTCAGCCCAAGCCCTGG	0.557000													29	47					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101114143	101114143	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:101114143C>T	ENST00000314742.8	-	5	1157	c.935G>A	c.(934-936)gGt>gAt	p.G312D	LINS_ENST00000560133.1_Missense_Mutation_p.G193D|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.G312D	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	312										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GAGGTCTTCACCCACTTTACA	0.458000													21	43					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681478	3681478	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:3681478C>T	ENST00000250693.1	+	3	830	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGTGCTGATCCCCCCCTTTG	0.607000													18	15					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30092453	30092453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:30092453G>A	ENST00000449726.1	+	7	1117	c.767G>A	c.(766-768)aGt>aAt	p.S256N	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S256N|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S256N|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S256N	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	256					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGCATATCAAGTGAGGAAAAT	0.284000													9	44					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51777325	51777325	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:51777325G>A	ENST00000371117.3	-	38	6446	c.6171C>T	c.(6169-6171)gcC>gcT	p.A2057A	PKHD1_ENST00000340994.4_Silent_p.A2057A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2057					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTGTCTAGGGCATGGGCAG	0.453000													27	54					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665355	157665355	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:157665355G>A	ENST00000368184.3	-	8	1466	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	FCRL3_ENST00000368186.5_Missense_Mutation_p.A392V|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	392	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACAGTGTGGGCCCTGGGAGC	0.572000													15	40					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71202370	71202370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:71202370G>A	ENST00000299886.4	+	11	2668	c.2588G>A	c.(2587-2589)aGc>aAc	p.S863N		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	863					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CACCTCAACAGCAACCTTCAT	0.448000													28	48					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371468	240371468	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:240371468C>T	ENST00000319653.9	+	5	3586	c.3356C>T	c.(3355-3357)cCc>cTc	p.P1119L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1119	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGGGCATACCCCCTCCTCCC	0.716000													2	3					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963466	73963466	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:73963466G>A	ENST00000055682.6	-	3	1537	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATTTTCAGGGAGCAGACATC	0.398000													5	117					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63554681	63554681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:63554681C>T	ENST00000307078.5	-	2	371	c.58G>A	c.(58-60)Gat>Aat	p.D20N	AXIN2_ENST00000375702.5_Missense_Mutation_p.D20N|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	20					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CGCGGGGCATCCTCACGGAAG	0.617000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				6	36					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	56					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515372	140515372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140515372C>T	ENST00000231134.5	+	1	573	c.356C>T	c.(355-357)aCt>aTt	p.T119I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		119	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTTCAAACTGATCTGCAG	0.463000													26	53					0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45925666	45925666	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:45925666G>A	ENST00000536300.1	-	2	461	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	SP6_ENST00000342234.2_Missense_Mutation_p.P44S	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						AGCGGGGAGGGGTAGTCCCCG	0.711000													10	14					0	0	1	0	0
GPX8	493869	broad.mit.edu	37	5	54459990	54459990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:54459990C>T	ENST00000503787.1	+	3	649	c.574C>T	c.(574-576)Cct>Tct	p.P192S	CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000296734.6_3'UTR|GPX8_ENST00000515370.1_Missense_Mutation_p.P141S|CDC20B_ENST00000322374.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	192					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AGTCATCAGGCCTGACATAGC	0.423000													10	40					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2447003	2447003	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:2447003C>T	ENST00000378466.3	-	10	1384	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	PANK4_ENST00000435556.3_Missense_Mutation_p.G419R	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	458					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCCTCACCCCGTCCAGGGCC	0.662000													4	65					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40190487	40190487	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:40190487G>A	ENST00000360214.3	+	8	1188	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	ETS2_ENST00000360938.3_Missense_Mutation_p.R243Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	243					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCCAAGTCTCGGCTCAGCTCC	0.547000													11	260					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735136	31735136	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:31735136A>G	ENST00000342032.3	+	3	764	c.136A>G	c.(136-138)Aag>Gag	p.K46E	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	46					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											GAAGCCTAGAAAGGGAAAAAA	0.393000													51	108					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56458746	56458746	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:56458746C>T	ENST00000370754.5	-	48	12347	c.12348G>A	c.(12346-12348)gaG>gaA	p.E4116E	DST_ENST00000244364.6_Silent_p.E1524E|DST_ENST00000421834.2_Silent_p.E1850E|DST_ENST00000361203.3_Silent_p.E3936E|DST_ENST00000312431.6_Silent_p.E3936E|DST_ENST00000370788.2_Silent_p.E1850E|DST_ENST00000446842.2_Silent_p.E3612E|DST_ENST00000370769.4_Silent_p.E3938E			Q03001	DYST_HUMAN	dystonin	3936					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	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|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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)			GTAGCCAGTGCTCAAACTCGG	0.413000													27	58					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50571396	50571396	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50571396C>T	ENST00000547825.1	-	5	2094	c.825G>A	c.(823-825)aaG>aaA	p.K275K	LIMA1_ENST00000552491.1_Silent_p.K274K|LIMA1_ENST00000552909.1_Silent_p.K416K|LIMA1_ENST00000552823.1_Silent_p.K417K|LIMA1_ENST00000552783.1_Silent_p.K418K|LIMA1_ENST00000341247.4_Silent_p.K577K|LIMA1_ENST00000394943.3_Silent_p.K578K	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	577					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATCGTCTTAGCTTCTTCAGAT	0.483000													18	159					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183885705	183885705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:183885705G>A	ENST00000313143.3	+	13	1598	c.1350G>A	c.(1348-1350)tgG>tgA	p.W450*	DVL3_ENST00000431765.1_Nonsense_Mutation_p.W433*|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	450	DEP.			W -> C (in Ref. 1; AAB47447).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TGGTGGACTGGCTGTACCACA	0.587000													4	55					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817893	22817893	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22817893G>A	ENST00000404138.1	+	4	1209	c.698G>A	c.(697-699)gGa>gAa	p.G233E	ZBTB40_ENST00000374651.4_Splice_Site_p.G233E|ZBTB40_ENST00000375647.4_Splice_Site_p.G233E	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	233					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTACATTTAGGATGTGAAAGG	0.328000													8	74					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105164795	105164795	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105164795C>T	ENST00000369797.3	+	5	513	c.419C>T	c.(418-420)cCt>cTt	p.P140L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	140	S1 motif 1.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTCACTTGCCTGAACTTTTC	0.473000													3	46					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945064	151945064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151945064C>T	ENST00000355193.2	-	14	2673	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	KMT2C_ENST00000262189.6_Missense_Mutation_p.V819I					lysine (K)-specific methyltransferase 2C																		TTTGGAGTGACTGAGATGTAA	0.418000													10	476					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167000266	167000266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:167000266G>A	ENST00000392766.2	-	19	2237	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	ZBBX_ENST00000307529.5_Missense_Mutation_p.P672S|ZBBX_ENST00000392767.2_Missense_Mutation_p.P633S|ZBBX_ENST00000392764.1_Missense_Mutation_p.P604S|ZBBX_ENST00000455345.2_Missense_Mutation_p.P672S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	633						intracellular	zinc ion binding	p.P672S(1)|p.P633S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCTGTTGAAGGTCTCTGTGAT	0.353000													33	20					0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42204924	42204924	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42204924C>T	ENST00000255784.5	+	2	134	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CCDC134_ENST00000402061.3_Silent_p.L10L	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	10						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGGCCTTCCTCTTTGTCCTGC	0.483000													10	44					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231731	142231731	+	Silent	SNP	G	G	A	rs146246063		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142231731G>A	ENST00000519067.1	-	2	525	c.222C>T	c.(220-222)gcC>gcT	p.A74A	SLC45A4_ENST00000433583.2_Silent_p.A67A|SLC45A4_ENST00000024061.3_Silent_p.A74A|SLC45A4_ENST00000517878.1_Silent_p.A125A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	125					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAACGCAGAGGGCGAGGATGA	0.617000													38	41					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27059220	27059220	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27059220C>T	ENST00000324856.7	+	4	2228	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	ARID1A_ENST00000374152.2_Silent_p.T236T|ARID1A_ENST00000457599.2_Silent_p.T619T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	619					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAATGACCTCCAGTAAGG	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								32	58					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53459118	53459118	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:53459118G>A	ENST00000331173.4	-	1	237	c.192C>T	c.(190-192)taC>taT	p.Y64Y	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	64	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCTGGTCTTGGTATTCGCAGA	0.522000													61	90					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158924623	158924623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158924623G>A	ENST00000367097.3	+	13	5285	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1310					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGATGGTAGAGACTGCAGA	0.587000													6	73					0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100021874	100021874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:100021874G>A	ENST00000260702.3	-	3	524	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	125	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TACGTCTTCTGAGTGACTGCA	0.597000													16	27					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160806015	160806015	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160806015C>T	ENST00000368034.4	-	6	1041	c.864G>A	c.(862-864)ggG>ggA	p.G288G	CD244_ENST00000481677.1_Intron|CD244_ENST00000368033.3_Silent_p.G293G|CD244_ENST00000368032.2_Silent_p.G288G|CD244_ENST00000322302.7_Silent_p.G196G	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	293					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGATGGTGCTCCCCCCTCCAG	0.507000													11	21					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47223979	47223979	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:47223979C>T	ENST00000391910.3	-	17	2613	c.2163G>A	c.(2161-2163)gtG>gtA	p.V721V	STRN4_ENST00000539396.1_Silent_p.V595V|STRN4_ENST00000263280.6_Silent_p.V714V			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	714						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGATCTCCTGCACGCACGTTT	0.637000													19	20					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227079515	227079515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:227079515C>T	ENST00000366782.1	+	11	1641	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	PSEN2_ENST00000366783.3_Missense_Mutation_p.P348S|PSEN2_ENST00000472139.2_Missense_Mutation_p.P204S|PSEN2_ENST00000391872.2_Missense_Mutation_p.P381S|PSEN2_ENST00000340188.4_Missense_Mutation_p.P315S|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000422240.2_Missense_Mutation_p.P347S			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	348					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GACTGGCTACCCAGGGGAGGA	0.582000													4	26					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46963952	46963952	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:46963952C>T	ENST00000374323.4	-	6	1757	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.V337V|SYT15_ENST00000374325.3_Silent_p.V337V|SYT15_ENST00000374321.4_Silent_p.V337V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGAGCCCAGCACAGCTGAAG	0.527000													6	57					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126129460	126129460	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:126129460G>A	ENST00000373631.3	+	5	765	c.764G>A	c.(763-765)gGc>gAc	p.G255D	CRB2_ENST00000359999.3_Missense_Mutation_p.G255D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	255	EGF-like 5.					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						GGCTACAGCGGCGAGCTGTGC	0.677000													8	105					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51948542	51948542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:51948542C>T	ENST00000311234.4	-	15	2378	c.1906G>A	c.(1906-1908)Gct>Act	p.A636T	INTS6_ENST00000398119.2_Missense_Mutation_p.A623T|INTS6_ENST00000490542.1_Missense_Mutation_p.A320T|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.A458T|INTS6_ENST00000425000.1_Missense_Mutation_p.A204T	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	636					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TGAGGTCCAGCCACAAATTCA	0.393000													32	35					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968032	2968032	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:2968032G>A	ENST00000342628.2	-	10	2291	c.2178C>T	c.(2176-2178)ccC>ccT	p.P726P	FOXM1_ENST00000361953.3_Silent_p.P673P|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Silent_p.P688P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	688					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTTGCCAAAGGGGACGGAGA	0.572000													14	68					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621582	32621582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:32621582C>T	ENST00000338921.4	+	13	2126	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	NRG1_ENST00000287845.5_Nonsense_Mutation_p.Q500*|NRG1_ENST00000519301.1_Nonsense_Mutation_p.Q479*|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Nonsense_Mutation_p.Q372*|NRG1_ENST00000356819.4_Nonsense_Mutation_p.Q534*|NRG1_ENST00000405005.3_Nonsense_Mutation_p.Q529*|NRG1_ENST00000287842.3_Nonsense_Mutation_p.Q526*			Q02297	NRG1_HUMAN	neuregulin 1	529					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGAAACGACCCAAGAGTACGA	0.542000													21	20					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113459691	113459691	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:113459691G>A	ENST00000416899.2	+	5	699	c.573G>A	c.(571-573)gtG>gtA	p.V191V	MUSK_ENST00000374439.1_Silent_p.V73V|MUSK_ENST00000189978.5_Silent_p.V191V|MUSK_ENST00000374448.4_Silent_p.V191V|MUSK_ENST00000374440.3_Silent_p.V73V			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	191	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCGATGTGTGGCAAAAAACA	0.488000													11	79					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719806	41719806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:41719806G>A	ENST00000400454.1	-	6	1478	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	334	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACGCTGCAGGACAAGGAAAC	0.493000													61	132					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741860	145741860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145741860C>T	ENST00000428558.2	-	5	684	c.643G>A	c.(643-645)Gag>Aag	p.E215K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	215					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTGATTCCTCTGAGCCTAGA	0.602000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				6	15					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50594611	50594611	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50594611C>T	ENST00000547825.1	-	1	1284	c.15G>A	c.(13-15)gaG>gaA	p.E5E	LIMA1_ENST00000552491.1_Silent_p.E5E|LIMA1_ENST00000552909.1_Silent_p.E147E|LIMA1_ENST00000552783.1_Silent_p.E147E|LIMA1_ENST00000341247.4_Silent_p.E307E|LIMA1_ENST00000394943.3_Silent_p.E307E|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Silent_p.E147E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	307					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGCACATTCTCCTTTTGCT	0.408000													95	153					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129804055	129804055	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129804055G>A	ENST00000338144.3	-	8	1082	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ENOX2_ENST00000370927.1_Missense_Mutation_p.A222V|ENOX2_ENST00000394363.1_Missense_Mutation_p.A193V|ENOX2_ENST00000370935.1_Missense_Mutation_p.A193V	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	222					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTCCTCTCTGGCTAGCATACG	0.502000													23	57					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158156073	158156073	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:158156073G>A	ENST00000259056.4	+	6	2496	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	671	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCCTGTCATGGCTGGTGGATT	0.408000													4	69					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13226149	13226149	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:13226149C>T	ENST00000592062.1	-	6	1155	c.585G>A	c.(583-585)cgG>cgA	p.R195R	TRMT1_ENST00000437766.1_Silent_p.R195R|TRMT1_ENST00000357720.4_Silent_p.R195R|TRMT1_ENST00000221504.8_Silent_p.R195R			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	195							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTGGACATTCCGGCGTATGA	0.592000													3	46					0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5416007	5416007	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5416007C>T	ENST00000380433.3	+	2	552	c.324C>T	c.(322-324)cgC>cgT	p.R108R		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	108						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						GAAAGCCACGCCAGGACACGG	0.597000													3	39					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119154236	119154236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:119154236C>T	ENST00000296499.5	+	9	2292	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	NDST3_ENST00000433996.2_Missense_Mutation_p.T549I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	630	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGCCCAAAAACCTTTGAGGAG	0.373000													6	120					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34135329	34135329	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34135329G>A	ENST00000257829.3	+	5	645	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	NAT10_ENST00000527971.1_Missense_Mutation_p.V147M|NAT10_ENST00000531159.2_Missense_Mutation_p.V75M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	147						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGTGGGCTAGTGGTCATCCT	0.453000													25	145					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109080	123109080	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:123109080C>T	ENST00000264501.4	+	9	1031	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P220S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P220S			Q2LD37	K1109_HUMAN	KIAA1109	220					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCACTACCAGCCGCAAACTCT	0.343000													16	86					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12125683	12125683	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12125683C>T	ENST00000419886.2	-	5	2185	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.A667T|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCAGTGAGCCCTTCCATGC	0.498000													3	26					0	0	1	0	0
PRM1	5619	broad.mit.edu	37	16	11375045	11375045	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:11375045G>A	ENST00000312511.3	-	1	162	c.51C>T	c.(49-51)cgC>cgT	p.R17R	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	17					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		large_intestine(2)|skin(2)	4						TTTGTCTCTGGCGGTAATATC	0.622000													44	90					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650026	146650026	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:146650026G>A	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							TGGTGAAGAAGCAGGTGCTTA	0.473000													10	89					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29602244	29602244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:29602244G>A	ENST00000356870.3	+	8	1539	c.1429G>A	c.(1429-1431)Gtc>Atc	p.V477I	PTPRU_ENST00000460170.2_Missense_Mutation_p.V477I|PTPRU_ENST00000345512.3_Missense_Mutation_p.V477I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V477I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V477I|PTPRU_ENST00000373779.3_Missense_Mutation_p.V477I	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	477	Fibronectin type-III 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGCAAGGAGGTCACTTTCCA	0.547000													3	21					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566985	57566985	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57566985G>A	ENST00000243077.3	+	21	3664	c.3198G>A	c.(3196-3198)gaG>gaA	p.E1066E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1066	LDL-receptor class A 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACTGATGAGTTCCAGTGCC	0.647000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	52					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157062643	157062643	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:157062643C>T	ENST00000454449.2	-	5	1168	c.884G>A	c.(883-885)gGt>gAt	p.G295D		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	295						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTCACCCGCACCCTGTCCCAG	0.632000													5	33					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212150061	212150061	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:212150061C>T	ENST00000366994.3	-	12	1575	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Splice_Site_p.V491M|INTS7_ENST00000366993.3_Splice_Site_p.V491M|INTS7_ENST00000440600.2_Splice_Site_p.V442M	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	491					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GCCAAACTCACCTAACATTGG	0.398000													37	19					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158507893	158507893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158507893C>T	ENST00000355585.4	+	23	3290	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1072V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A157V|SYNJ2_ENST00000367122.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1072							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGATGACGCGGACCTGGTG	0.647000													11	30					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577993	210577993	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:210577993C>T	ENST00000367010.1	+	6	881	c.654C>T	c.(652-654)ccC>ccT	p.P218P	HHAT_ENST00000545154.1_Silent_p.P219P|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000308852.6_Silent_p.P173P|HHAT_ENST00000545781.1_Silent_p.P155P|HHAT_ENST00000537898.1_Silent_p.P153P|HHAT_ENST00000261458.3_Silent_p.P218P|HHAT_ENST00000391905.3_Silent_p.P218P|HHAT_ENST00000413764.2_Silent_p.P218P	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	218					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACAATGGGCCCATCCTCAGCT	0.527000													33	46					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94126715	94126715	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:94126715T>A	ENST00000243673.2	-	3	754	c.583A>T	c.(583-585)Acc>Tcc	p.T195S	GPR83_ENST00000539203.2_Missense_Mutation_p.T153S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	195						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTAGCCATGGTCCAGATGACA	0.463000													26	36					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75113065	75113065	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75113065G>A	ENST00000309664.5	+	8	1003	c.864G>A	c.(862-864)agG>agA	p.R288R	LMAN1L_ENST00000379709.3_Silent_p.R276R	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	288						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCACCAGGGAGGATGTAA	0.622000													34	52					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65734416	65734416	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65734416G>A	ENST00000253247.4	+	14	1823	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	NOL11_ENST00000535137.1_Missense_Mutation_p.D388N	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	570						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGCCCCAGGACGAAACAAA	0.383000													24	52					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871372	2871372	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2871372C>T	ENST00000455114.1	+	6	811	c.705C>T	c.(703-705)gaC>gaT	p.D235D	PRSS21_ENST00000450020.3_Silent_p.D223D|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Silent_p.D237D	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	237	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CCCAGGGTGACTCAGGTGGAC	0.642000													14	32					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149544895	149544895	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149544895C>T	ENST00000223210.4	+	4	558	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACAGTCCCTCCCGCCTCAGAA	0.542000													4	26					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76570721	76570721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:76570721C>T	ENST00000359707.4	-	12	2127	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	G3BP2_ENST00000395719.3_Missense_Mutation_p.D448N|G3BP2_ENST00000357854.3_Missense_Mutation_p.D415N	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	448	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATCACGATCACGCATCATT	0.577000													7	64					0	0	1	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165639	134165639	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:134165639G>A	ENST00000372264.3	+	1	559	c.255G>A	c.(253-255)ctG>ctA	p.L85L	PPAPDC3_ENST00000372261.1_Silent_p.L85L	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	85	interaction with MTOR (By similarity).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCAACTCCCTGCTGGCCATCG	0.647000													42	84					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95645794	95645794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:95645794G>A	ENST00000436874.1	+	2	220	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	39						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACCAAAAACAGAAAAATGCAC	0.383000													30	59					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988307	26988307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:26988307C>T	ENST00000231021.4	-	2	306	c.134G>A	c.(133-135)gGt>gAt	p.G45D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	45					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TAGCATTTTACCGTCATCTTT	0.408000													9	30					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162392	48162392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48162392C>T	ENST00000311303.3	-	9	1838	c.1493G>A	c.(1492-1494)aGc>aAc	p.S498N	ABCC12_ENST00000448542.1_Missense_Mutation_p.S498N|ABCC12_ENST00000416054.1_Missense_Mutation_p.S498N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	498	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAAGCTTATGCTGTGCAGAAC	0.537000													40	61					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55685905	55685905	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55685905C>T	ENST00000354308.3	-	8	1309	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	SYT5_ENST00000590851.1_Missense_Mutation_p.V310M|SYT5_ENST00000537500.1_Missense_Mutation_p.V314M|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	314	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCACAGGGCACCTCGAAGCTG	0.522000													55	87					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53345407	53345407	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:53345407C>T	ENST00000226067.5	+	2	884	c.411C>T	c.(409-411)ggC>ggT	p.G137G	HLF_ENST00000573945.1_Silent_p.G52G|HLF_ENST00000575345.1_Silent_p.G52G|HLF_ENST00000430986.2_Silent_p.G52G	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	137					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						TTCACCCTGGCATCCCATCTC	0.617000			T	TCF3	ALL								4	73					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66431795	66431795	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:66431795G>A	ENST00000262139.5	-	6	586	c.587C>T	c.(586-588)gCc>gTc	p.A196V	WIPI1_ENST00000546360.1_Missense_Mutation_p.A114V|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	196					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGCCTGAGGCATTGAAGGT	0.522000											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	73					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467925	10467925	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:10467925G>A	ENST00000382483.3	-	4	3906	c.3683C>T	c.(3682-3684)aCa>aTa	p.T1228I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1228					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGCAGCTCTGTCCCCTGTGT	0.577000													6	38					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254723	219254723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219254723C>T	ENST00000233202.6	+	9	1266	c.926C>T	c.(925-927)gCc>gTc	p.A309V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.A191V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	309					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.A309D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGCAGGCCTTCTACCAG	0.542000													4	35					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104197	47104197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:47104197C>T	ENST00000377107.2	+	15	2314	c.1960C>T	c.(1960-1962)Ctc>Ttc	p.L654F	USP11_ENST00000218348.3_Missense_Mutation_p.L697F			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	697					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCCCGTTCCTCCTGGACAA	0.632000													13	20					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135384243	135384243	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135384243C>T	ENST00000354042.4	-	8	1454	c.765G>A	c.(763-765)aaG>aaA	p.K255K		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	255						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGGACCTGTACTTTCTGTTCA	0.547000													18	62					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55750467	55750467	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:55750467G>A	ENST00000455909.1	-	0	750					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						TCAAAGCCAGGAGCGAGTTTC	0.493000													27	50					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133109097	133109097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:133109097G>A	ENST00000321871.6	+	5	1734	c.1524G>A	c.(1522-1524)tgG>tgA	p.W508*	TMEM108_ENST00000508711.1_Nonsense_Mutation_p.W38*|TMEM108_ENST00000393130.3_Nonsense_Mutation_p.W508*	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	508						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAGCTACTGGAACAACACCA	0.532000													25	288					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45399648	45399648	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:45399648G>A	ENST00000371438.1	+	3	830	c.472G>A	c.(472-474)Gcg>Acg	p.A158T	RUNX2_ENST00000576263.1_Missense_Mutation_p.A158T|RUNX2_ENST00000359524.5_Missense_Mutation_p.A144T|RUNX2_ENST00000371432.3_Missense_Mutation_p.A144T|RUNX2_ENST00000371436.6_Missense_Mutation_p.A158T|RUNX2_ENST00000541979.1_Missense_Mutation_p.A226T|RUNX2_ENST00000352853.5_Missense_Mutation_p.A226T|RUNX2_ENST00000465038.2_Missense_Mutation_p.A158T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	158	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TACTGTCATGGCGGGTAACGA	0.478000													8	120					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33695656	33695656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33695656C>T	ENST00000253193.7	+	4	575	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	125	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTCCGCCATCCCACCTGCCTT	0.662000													8	76					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258262	25258262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:25258262G>A	ENST00000264864.6	+	4	911	c.722G>A	c.(721-723)gGt>gAt	p.G241D	PI4K2B_ENST00000512921.1_Missense_Mutation_p.G145D	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	241	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CCAAAAGTGGGTAGAAAGTTT	0.418000													26	65					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73689479	73689479	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:73689479C>T	ENST00000310473.3	-	0	787				UCP2_ENST00000536983.1_De_novo_Start_OutOfFrame	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)						proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GACAGGGGCACCTTTAATCAG	0.537000													6	6					0	0	1	0	0
SPATA12	353324	broad.mit.edu	37	3	57108055	57108055	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:57108055C>T	ENST00000334325.1	+	2	1008	c.333C>T	c.(331-333)ctC>ctT	p.L111L	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	111										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CTCCAGCTCTCCTGATACAGC	0.443000													19	57					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947805	21947805	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21947805C>T	ENST00000406877.3	-	4	903	c.624G>A	c.(622-624)caG>caA	p.Q208Q	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Silent_p.Q174Q|CDCA7L_ENST00000373934.4_Silent_p.Q162Q	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	208					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGAACTCTCCTGGCTCTCAT	0.478000													10	45					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896470	24896470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:24896470G>A	ENST00000396432.2	-	11	3128	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S668L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	880					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTCATCATATGATTTTGATCT	0.378000													6	103					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687190	159687190	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:159687190G>A	ENST00000297267.9	+	21	5559	c.5359G>A	c.(5359-5361)Gtg>Atg	p.V1787M	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1724M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1787						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGCAATATGTGAAGCGCAC	0.463000													30	56					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27382613	27382613	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:27382613C>T	ENST00000376087.4	-	2	523		c.e2+1		ANKRD26_ENST00000436985.2_Splice_Site	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26							centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTACTATATACCTTCATCAGA	0.388000													5	71					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65316547	65316547	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:65316547C>T	ENST00000342505.4	-	12	1943	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	565					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGTAGACGGGCTGCCACTCCT	0.582000			Mis		ALL								15	24					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031818	10031818	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:10031818G>A	ENST00000396573.2	-	4	1314	c.1005C>T	c.(1003-1005)caC>caT	p.H335H	GRIN2A_ENST00000535259.1_Silent_p.H178H|GRIN2A_ENST00000562109.1_Silent_p.H335H|GRIN2A_ENST00000396575.2_Silent_p.H335H|GRIN2A_ENST00000404927.2_Silent_p.H335H|GRIN2A_ENST00000330684.3_Silent_p.H335H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	335					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTTCTTACGGGTGCAAGGTGT	0.507000													6	28					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30773969	30773969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30773969C>T	ENST00000324685.6	+	2	538	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	C16orf93_ENST00000543610.1_5'UTR|RNF40_ENST00000563683.1_Missense_Mutation_p.P35S|RNF40_ENST00000357890.5_Missense_Mutation_p.P35S|RNF40_ENST00000402121.3_Missense_Mutation_p.P35S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	35					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TCTTATCGAGCCCATTCGTCT	0.612000													4	24					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26370172	26370172	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26370172G>A	ENST00000407008.3	+	1	991	c.273G>A	c.(271-273)caG>caA	p.Q91Q	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Silent_p.Q91Q	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	91					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCAACAACAGCCATATTTCC	0.642000													3	33					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255174	15255174	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:15255174C>T	ENST00000378116.4	-	8	2419	c.2413G>A	c.(2413-2415)Gtc>Atc	p.V805I		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	805						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGGTACAGACCGTGGTCCCA	0.632000													21	49					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68867205	68867205	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:68867205G>A	ENST00000261769.5	+	16	2643	c.2452G>A	c.(2452-2454)Gct>Act	p.A818T	CDH1_ENST00000422392.2_Missense_Mutation_p.A757T|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	818	Required for binding alpha, beta and gamma catenins.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCTGAAAGCGGCTGATACTGA	0.488000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				13	80					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39895507	39895507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39895507G>A	ENST00000564288.1	+	65	17674	c.16897G>A	c.(16897-16899)Gtg>Atg	p.V5633M	MACF1_ENST00000289893.4_Missense_Mutation_p.V4073M|MACF1_ENST00000545844.1_Missense_Mutation_p.V3571M|MACF1_ENST00000361689.2_Missense_Mutation_p.V3571M|MACF1_ENST00000567887.1_Missense_Mutation_p.V5670M|MACF1_ENST00000539005.1_Missense_Mutation_p.V3441M|MACF1_ENST00000372915.3_Missense_Mutation_p.V5529M|MACF1_ENST00000317713.7_Missense_Mutation_p.V3571M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5638					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGTGAGGAGGTGTTACTTAT	0.423000													6	161					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132887690	132887690	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:132887690C>T	ENST00000370818.3	-	3	1296	c.851G>A	c.(850-852)gGc>gAc	p.G284D	GPC3_ENST00000394299.2_Missense_Mutation_p.G284D|GPC3_ENST00000543339.1_Missense_Mutation_p.G230D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	284						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCCATACAGCCTTGCATGAC	0.483000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				42	98					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928682	10928682	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:10928682C>T	ENST00000283141.6	+	18	1783	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	496						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccgcaacaACCTGTGAGTACA	0.517000													17	30					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58083878	58083878	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58083878G>A	ENST00000196489.3	-	4	1616	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACATACATAAGGCCTTTCTGC	0.448000													5	143					0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68055766	68055766	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:68055766G>A	ENST00000332395.5	-	1	2004	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	447	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TATGTCTCGGGAGCTCTTCTG	0.512000													5	48					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220437227	220437227	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220437227C>T	ENST00000243786.2	+	1	311	c.131C>T	c.(130-132)cCc>cTc	p.P44L	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	44					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTGGGGCCCCCCGCGGTGACC	0.687000											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	15					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727854	6727854	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6727854C>T	ENST00000377577.5	-	4	416	c.293G>A	c.(292-294)aGa>aAa	p.R98K	DNAJC11_ENST00000377573.5_Missense_Mutation_p.R8K|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R60K|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R98K|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R60K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	98					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGGGTTCTCCTCCTTTC	0.512000													19	12					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57115520	57115520	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:57115520C>T	ENST00000262510.6	+	48	5712	c.5487C>T	c.(5485-5487)atC>atT	p.I1829I	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Silent_p.I1800I|NLRC5_ENST00000308149.7_Silent_p.I1800I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1829					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCAAGTCATCCGGTAACAGA	0.622000													15	100					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724657	112724657	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:112724657C>T	ENST00000297146.3	-	3	723	c.120G>A	c.(118-120)ctG>ctA	p.L40L	GPR85_ENST00000449591.1_Silent_p.L40L|GPR85_ENST00000424100.1_Silent_p.L40L|GPR85_ENST00000501255.2_Silent_p.L40L	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AAATGGAGATCAGGAGGTTGC	0.433000													23	64					0	0	1	0	0
ABHD17C	58489	broad.mit.edu	37	15	80988289	80988289	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:80988289C>T	ENST00000258884.4	+	1	646	c.519C>T	c.(517-519)gtC>gtT	p.V173V	ABHD17C_ENST00000560609.1_Intron|ABHD17C_ENST00000558464.1_Silent_p.V173V	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		GATACGGCGTCAGCTCGGGCA	0.657000													3	14					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65032346	65032346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:65032346G>A	ENST00000298705.1	+	6	466	c.370G>A	c.(370-372)Gtt>Att	p.V124I	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	124																	CTTTTCAGTTGTTACTTTGCT	0.353000													6	57					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153670114	153670114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153670114C>T	ENST00000447750.2	+	8	1299	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	322					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATAATCATCCCCCAGAACCA	0.547000													31	67					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3294498	3294498	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3294498C>T	ENST00000219596.1	-	7	1740	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	MEFV_ENST00000541159.1_Silent_p.V356V|MEFV_ENST00000536379.1_Silent_p.V356V|MEFV_ENST00000339854.4_Silent_p.V387V	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	567					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGCTCTTCTCCACAAACTCTG	0.493000													10	143					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027886	87027886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:87027886C>T	ENST00000398399.2	-	2	556	c.193G>A	c.(193-195)Gag>Aag	p.E65K	VGLL3_ENST00000383698.3_Missense_Mutation_p.E65K	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tcatcctcctcctcTTGTTTG	0.483000													8	22					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114214681	114214681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:114214681C>T	ENST00000357077.4	+	22	2515	c.2462C>T	c.(2461-2463)aCc>aTc	p.T821I	ANK2_ENST00000506722.1_Missense_Mutation_p.T800I|ANK2_ENST00000264366.6_Missense_Mutation_p.T821I|ANK2_ENST00000509550.1_Missense_Mutation_p.T30I|ANK2_ENST00000394537.3_Missense_Mutation_p.T821I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	821					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGAGGTCACCACCACCACC	0.473000													12	25					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811172	69811172	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69811172C>T	ENST00000251566.4	-	2	746	c.716G>A	c.(715-717)gGa>gAa	p.G239E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	239						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTGGGCCTTCCTCAATAAAA	0.299000													17	53					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858978	105858978	+	Silent	SNP	G	G	A	rs141451236		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677000													8	60					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24035776	24035776	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24035776G>A	ENST00000308724.5	-	2	1079	c.324C>T	c.(322-324)atC>atT	p.I108I	AP1G2_ENST00000397120.3_Silent_p.I108I|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	108					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCACTTCTTGATGCTGTTGG	0.537000													100	121					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70342717	70342717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70342717G>A	ENST00000333646.6	+	10	1677	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	MED12_ENST00000374080.3_Missense_Mutation_p.G493E|MED12_ENST00000374102.1_Missense_Mutation_p.G493E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	493					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCAAGGATGGGCATGAGGTA	0.458000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						25	49					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139219719	139219719	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139219719G>A	ENST00000274710.3	+	14	2281	c.2076G>A	c.(2074-2076)gaG>gaA	p.E692E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	692					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGGCCGAGGAGTACCGGT	0.582000													4	83					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283127	47283127	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47283127C>T	ENST00000467728.1	+	5	1976	c.738C>T	c.(736-738)agC>agT	p.S246S	NR1H3_ENST00000481889.2_Silent_p.S201S|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000395397.3_Silent_p.S201S|NR1H3_ENST00000441012.2_Silent_p.S246S|NR1H3_ENST00000405576.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	246	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ATCCCCATAGCCGGGAGGCCC	0.592000													5	55					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540216	133540216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:133540216C>T	ENST00000409261.1	-	14	4541	c.4168G>A	c.(4168-4170)Gcc>Acc	p.A1390T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1390T|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1390							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGGTGAAGGCCTGCTGGTCT	0.597000													24	40					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468416	156468416	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:156468416G>A	ENST00000405335.1	+	9	1120	c.711G>A	c.(709-711)ctG>ctA	p.L237L	RNF32_ENST00000392743.2_Silent_p.L237L|RNF32_ENST00000432459.2_Silent_p.L237L|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Silent_p.L237L|RNF32_ENST00000343665.4_Silent_p.L213L|RNF32_ENST00000311822.8_Silent_p.L237L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	237						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACCGCATCCTGTGCTCATACA	0.532000													17	61					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219860	11219860	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:11219860C>T	ENST00000409790.1	+	22	2728	c.2498C>T	c.(2497-2499)cCc>cTc	p.P833L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P815L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	833								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAATCCAGCCCACCACTGAA	0.627000													12	210					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836929	47836929	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:47836929C>T	ENST00000396965.1	-	7	907	c.557G>A	c.(556-558)gGa>gAa	p.G186E	ZNF182_ENST00000305127.6_Missense_Mutation_p.G186E|ZNF182_ENST00000376943.3_Missense_Mutation_p.G167E	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTTGCACATCCATTATCATA	0.333000													8	70					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4434074	4434074	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4434074G>A	ENST00000329078.3	+	4	931	c.721G>A	c.(721-723)Ggc>Agc	p.G241S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	241					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CATCCCACTGGGCAGGTGAGA	0.602000													6	24					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481636	95481636	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:95481636C>T	ENST00000356884.6	-	5	1358	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R	BICD2_ENST00000375512.3_Missense_Mutation_p.G431R	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	431					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTCAGGCCCGTTGATGTCC	0.642000													22	29					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20840754	20840754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:20840754G>A	ENST00000402541.1	-	3	399	c.385C>T	c.(385-387)Cca>Tca	p.P129S	HS1BP3_ENST00000304031.3_Missense_Mutation_p.P129S|HS1BP3_ENST00000406618.3_Missense_Mutation_p.P129S			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	129	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGCTCTGGGCTGCCTGCC	0.617000													11	74					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102506659	102506659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102506659G>A	ENST00000360184.4	+	63	11941	c.11777G>A	c.(11776-11778)gGc>gAc	p.G3926D	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3926					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGATCCAGGGCCTGACTGTG	0.577000													16	29					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810397	1810397	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1810397G>A	ENST00000250894.4	+	12	1475	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V434M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	440					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTTGAATGTGGTGAAGAATGA	0.587000													28	44					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30123755	30123755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:30123755G>A	ENST00000216144.3	+	2	555	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	72	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GCCCAACGAGGTGGAGCTGGA	0.642000													4	65					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230527	75230527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75230527G>A	ENST00000325680.7	+	1	459	c.335G>A	c.(334-336)gGg>gAg	p.G112E	YLPM1_ENST00000238571.3_Missense_Mutation_p.G112E|YLPM1_ENST00000552421.1_Missense_Mutation_p.G112E	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	112	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCGCCACCCGGGCCGGCCCTC	0.682000													35	53					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139370930	139370930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139370930C>T	ENST00000313050.7	-	1	1211	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	SEC16A_ENST00000431893.2_Missense_Mutation_p.E202K|SEC16A_ENST00000290037.6_Missense_Mutation_p.E202K|SEC16A_ENST00000371706.3_Missense_Mutation_p.E202K	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	202					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTCTGTCTCTCCCCCTTGG	0.582000													12	15					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25777559	25777559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:25777559G>A	ENST00000280700.5	-	7	1245	c.1085C>T	c.(1084-1086)cCa>cTa	p.P362L	NGLY1_ENST00000417874.2_Missense_Mutation_p.P320L|NGLY1_ENST00000396649.3_Missense_Mutation_p.P362L|NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	362					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAAAGGAGTGGCTTGTCACA	0.403000													32	46					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91497470	91497470	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91497470G>A	ENST00000416354.1	+	20	3034	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	KIF20B_ENST00000371728.3_Missense_Mutation_p.E958K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E958K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E918K|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	958					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCAAGAACAGGAGGAAAAGAT	0.289000													15	87					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968507	106968507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:106968507C>T	ENST00000369066.3	+	2	2687	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	734							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGCCATGCCTCCTATTCACGA	0.438000													16	52					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175721	140175721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140175721C>T	ENST00000526136.1	+	1	1172	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P391L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P391L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGACGCCCCACGTCCCT	0.582000													42	110					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372690	151372690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151372690G>A	ENST00000287878.4	-	4	1004	c.500C>T	c.(499-501)aCc>aTc	p.T167I	PRKAG2_ENST00000492843.1_Missense_Mutation_p.T43I|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.T123I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.T43I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	167					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGTCACTTGGGTGGGTGTTGA	0.592000													28	106					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741244	145741244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145741244C>T	ENST00000428558.2	-	6	1203	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	388					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAAAACACTCCCCTTTCTTC	0.602000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				10	18					0	0	1	0	0
SC5D	6309	broad.mit.edu	37	11	121177953	121177953	+	Missense_Mutation	SNP	G	G	A	rs104894296		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:121177953G>A	ENST00000264027.4	+	5	1006	c.632G>A	c.(631-633)gGt>gAt	p.G211D	SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000392789.2_Missense_Mutation_p.G211D|SC5D_ENST00000534230.1_Splice_Site	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		ATTCATGACGGTGATTTTCGT	0.353000													8	217					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95165794	95165794	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:95165794G>A	ENST00000325885.5	+	4	1095	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	342					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TGAAGTTGTAGTCAATGCCTA	0.408000													11	37					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964572	176964572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:176964572C>T	ENST00000406506.2	+	1	115	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	HOXD12_ENST00000404162.2_Missense_Mutation_p.L15F			P35452	HXD12_HUMAN	homeobox D12	15						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGTGGGCTCGCTTCTGAATCT	0.582000													38	56					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133337087	133337087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:133337087G>A	ENST00000260810.5	-	21	3693	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1188					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCATGTAAAGGCTTTTGAAAA	0.373000								Other conserved DNA damage response genes					19	8					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915357	32915357	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:32915357G>A	ENST00000383763.5	+	2	963	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGTCGTGAGTGCACAATGG	0.597000													136	201					0	0	1	0	0
PIN1	5300	broad.mit.edu	37	19	9958869	9958869	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9958869G>A	ENST00000587625.1	+	3	457	c.435G>A	c.(433-435)ggG>ggA	p.G145G	PIN1_ENST00000380889.6_Intron|PIN1_ENST00000247970.4_Intron|PIN1_ENST00000588695.1_Intron			Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	0	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						ACCCTGAGGGGTAGAGGCCAG	0.662000											OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103518677	103518677	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103518677G>A	ENST00000602836.1	+	18	3541	c.3541G>A	c.(3541-3543)Gca>Aca	p.A1181T	ERCC5_ENST00000375954.1_5'UTR|ERCC5_ENST00000355739.4_Silent_p.Q755Q	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CTCAAAAACAGCAGCAAGAAC	0.448000													4	65					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1667503	1667503	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:1667503C>T	ENST00000252804.4	-	12	1491	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	481	Ig-like C2-type 3.				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			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)		GATGACAGGACCAGGTGCCGC	0.602000													7	71					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104065547	104065547	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:104065547C>T	ENST00000265148.3	-	33	5175	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1671K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1696					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGAGTCTCCTCCACACTC	0.383000													4	122					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333787	11333787	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11333787C>T	ENST00000376810.5	+	1	525	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	UBIAD1_ENST00000376804.2_Silent_p.L67L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	67					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACCGGTGGCCCTGGGCAGTGC	0.642000													30	42					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95608530	95608530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:95608530C>T	ENST00000395505.2	-	3	2523	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.G811S|ZNF484_ENST00000375495.3_Missense_Mutation_p.G847S|ZNF484_ENST00000395506.3_Missense_Mutation_p.G849S	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAAGTTGGCCTTGGTCACCT	0.423000													7	158					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173335719	173335719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173335719C>T	ENST00000375221.2	+	5	864	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.Q221*|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264106.6_Nonsense_Mutation_p.Q221*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.Q221*			P23229	ITA6_HUMAN	integrin, alpha 6	221					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCGTGTAGAGCAAAAGAATAA	0.358000													20	45					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20843327	20843327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:20843327C>T	ENST00000328879.4	-	2	328	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	58	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATGTGTCTGCCCTCCACCACC	0.567000													9	20					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514591	118514591	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118514591C>T	ENST00000361417.2	+	15	3362	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	PHLDB1_ENST00000524713.1_Missense_Mutation_p.S127F|PHLDB1_ENST00000527898.1_Missense_Mutation_p.S20F|PHLDB1_ENST00000356063.5_Missense_Mutation_p.S937F|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	984										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ctcccctcctcctctggctct	0.652000													9	20					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089619	10089619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10089619C>T	ENST00000264828.3	-	40	2997	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	971	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCAGCTGGCCCTTCTTTCCC	0.607000													8	10					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95656847	95656847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:95656847C>T	ENST00000436874.1	+	4	529	c.424C>T	c.(424-426)Cct>Tct	p.P142S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P94S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	142						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CCTGGCAACCCCTAATATTTG	0.448000													61	135					0	0	1	0	0
HOXA10	3206	broad.mit.edu	37	7	27213919	27213919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:27213919C>T	ENST00000283921.4	-	1	6	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	3					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTTTCTGGCTGACATTTCT	0.572000													15	104					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325172	152325172	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152325172C>T	ENST00000388718.5	-	3	5162	c.5090G>A	c.(5089-5091)gGa>gAa	p.G1697E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1697							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGTCTGTCCATGAGTAGT	0.498000													106	258					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19964979	19964979	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:19964979C>T	ENST00000263207.3	-	9	2120	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	ARVCF_ENST00000344269.3_Missense_Mutation_p.R547K|ARVCF_ENST00000406522.1_Missense_Mutation_p.R547K|ARVCF_ENST00000401994.1_Missense_Mutation_p.R547K|ARVCF_ENST00000406259.1_Missense_Mutation_p.R610K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	610	Poly-Arg.				cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ATCATCCCGCCTCCGGCGCTG	0.662000													28	60					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978278	69978278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:69978278G>A	ENST00000305231.7	+	6	1460	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	472					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCCACAAAGGAGCTAAACA	0.468000													42	254					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74315287	74315287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74315287G>A	ENST00000565898.1	+	3	805	c.721G>A	c.(721-723)Gac>Aac	p.D241N	PML_ENST00000569477.1_Missense_Mutation_p.D241N|PML_ENST00000395135.3_Missense_Mutation_p.D241N|PML_ENST00000395132.2_Missense_Mutation_p.D241N|PML_ENST00000436891.3_Missense_Mutation_p.D241N|PML_ENST00000354026.6_Missense_Mutation_p.D241N|PML_ENST00000435786.2_Missense_Mutation_p.D241N|PML_ENST00000567543.1_Missense_Mutation_p.D241N|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Missense_Mutation_p.D241N|PML_ENST00000359928.4_Missense_Mutation_p.D241N|PML_ENST00000564428.1_Missense_Mutation_p.D241N|PML_ENST00000268058.3_Missense_Mutation_p.D241N|PML_ENST00000563500.1_Missense_Mutation_p.D241N|PML_ENST00000268059.6_Missense_Mutation_p.D241N			P29590	PML_HUMAN	promyelocytic leukemia	241					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGAGGAGCTGGACGCCATGAC	0.672000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	10					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580667	120580667	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120580667G>A	ENST00000300648.6	-	43	5586	c.5574C>T	c.(5572-5574)gcC>gcT	p.A1858A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1858					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCCTCAGAGGCAGTTTCTG	0.542000													29	60					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171082	51171082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:51171082C>T	ENST00000440970.1	-	3	4056	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R	SALL1_ENST00000541611.1_Missense_Mutation_p.G129R|SALL1_ENST00000251020.4_Missense_Mutation_p.G1306R|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1306					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1306*(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTTGGTTCCGTTCTCACTG	0.562000													24	28					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2811732	2811732	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2811732G>A	ENST00000301740.8	+	11	1752	c.1203G>A	c.(1201-1203)cgG>cgA	p.R401R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	401	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCAACTCGGGACCGTTCAC	0.597000													14	150					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43908645	43908645	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:43908645G>A	ENST00000562955.1	+	58	8136	c.8136G>A	c.(8134-8136)agG>agA	p.R2712R	SZT2_ENST00000372442.1_Silent_p.R1870R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2769						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGCCCTAAGGGATATCACGG	0.612000													4	55					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726605	91726605	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:91726605G>A	ENST00000359028.2	+	41	10569	c.10344G>A	c.(10342-10344)caG>caA	p.Q3448Q	AKAP9_ENST00000356239.3_Silent_p.Q3444Q|AKAP9_ENST00000358100.2_Silent_p.Q3394Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3448			Q -> R (in dbSNP:rs34956633).		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAATTCCAGAAGCAAGAAC	0.373000			T	BRAF	papillary thyroid								6	36					0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24677253	24677253	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24677253C>T	ENST00000339917.5	+	4	1122	c.918C>T	c.(916-918)ttC>ttT	p.F306F	TSSK4_ENST00000428351.2_Silent_p.F103F|TSSK4_ENST00000287913.6_Silent_p.F296F|TSSK4_ENST00000556621.1_Silent_p.F220F|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	296					cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGCTCAAGTTCCAGCCTGAGC	0.532000													13	35					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83280668	83280668	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83280668C>T	ENST00000313899.7	-	3	692	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	HNRNPD_ENST00000353341.4_Missense_Mutation_p.G139S|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.G120S|HNRNPD_ENST00000543098.1_Missense_Mutation_p.G87S	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	139	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						AAGCCAAAACCCCTTGATCGC	0.373000													5	108					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70736082	70736082	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:70736082G>A	ENST00000551483.1	+	4	4393	c.238G>A	c.(238-240)Gat>Aat	p.D80N	CNOT2_ENST00000229195.3_Missense_Mutation_p.D429N|CNOT2_ENST00000418359.3_Missense_Mutation_p.D429N			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	429					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACATTAGGGATAAGGTGAG	0.294000													31	46					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957382	12957382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:12957382G>A	ENST00000276297.4	-	9	2873	c.2464C>T	c.(2464-2466)Ctc>Ttc	p.L822F	DLC1_ENST00000520226.1_Missense_Mutation_p.L311F|DLC1_ENST00000512044.2_Missense_Mutation_p.L419F|DLC1_ENST00000358919.2_Missense_Mutation_p.L385F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	822					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|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						CCATTGGTGAGAGCTTTGGGG	0.562000													5	144					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102490578	102490578	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102490578G>A	ENST00000321521.9	+	13	1907	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G445E|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G445E			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	445					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGAGCTAGGGCAAAATAAT	0.284000													10	57					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688784	109688784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:109688784G>A	ENST00000277225.5	+	3	2880	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.R864Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	864					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACTACCAACGAATGCACCCA	0.438000													62	137					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582356	82582356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:82582356G>A	ENST00000333891.9	-	5	8250	c.7913C>T	c.(7912-7914)aCc>aTc	p.T2638I	PCLO_ENST00000423517.2_Missense_Mutation_p.T2638I	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGTAGAAGGTCTGTTCTGA	0.453000													6	92					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121739572	121739572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:121739572C>T	ENST00000264808.3	-	5	826	c.586G>A	c.(586-588)Gag>Aag	p.E196K	PRDM5_ENST00000428209.2_Missense_Mutation_p.E196K|PRDM5_ENST00000515109.1_Missense_Mutation_p.E196K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	196					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTCTTTCTCCTCTGTGGGT	0.388000													20	96					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44564675	44564675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44564675C>T	ENST00000591793.1	+	5	496	c.413C>T	c.(412-414)gCc>gTc	p.A138V	ZNF223_ENST00000434772.3_Missense_Mutation_p.A28V|ZNF223_ENST00000585552.1_Missense_Mutation_p.A28V|ZNF223_ENST00000588518.1_Intron			Q9UK11	ZN223_HUMAN	zinc finger protein 223	28			L -> I (in dbSNP:rs6509138).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTGGACCTTGCCCAGAGGAAG	0.532000													66	129					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125074160	125074160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:125074160G>A	ENST00000522917.1	+	25	3421	c.3215G>A	c.(3214-3216)gGg>gAg	p.G1072E	FER1L6_ENST00000399018.1_Missense_Mutation_p.G1072E|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1072	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAGCTTTTGGGAGGAGTACC	0.547000													13	74					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128319974	128319974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:128319974G>A	ENST00000368227.3	-	17	2972	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	PTPRK_ENST00000368215.3_Missense_Mutation_p.S856F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S869F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S857F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S873F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S857F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S883F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	856					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGGTAAGGGGATTCCGTCCC	0.493000													26	36					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450732	41450732	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:41450732C>T	ENST00000400454.1	-	26	5070	c.4593G>A	c.(4591-4593)aaG>aaA	p.K1531K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1531	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATGTAGGACTTGGAGAGAG	0.582000													10	22					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116398635	116398635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116398635C>T	ENST00000397752.3	+	9	2425	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	MET_ENST00000318493.6_Missense_Mutation_p.P742L|MET_ENST00000436117.2_Missense_Mutation_p.P742L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	742	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGTGAAGATCCCATTGTCTAT	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				9	214					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131130743	131130743	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:131130743G>A	ENST00000357668.1	-	18	1813	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	ASAP1_ENST00000518721.1_Missense_Mutation_p.P596S			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	596					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.P596S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACCTGCCCAGGTTCCAGCAGT	0.363000													9	83					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230679905	230679905	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:230679905G>A	ENST00000283943.5	-	10	1675	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	TRIP12_ENST00000389044.4_Silent_p.N547N|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.N202N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	499					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GACAAGCATGGTTCATCTAGA	0.318000													36	72					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767929	140767929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140767929G>A	ENST00000519479.1	+	1	478	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCATGATGCGGATATTGG	0.418000													22	42					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64532866	64532866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64532866C>T	ENST00000334944.5	-	14	2305	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	SF1_ENST00000377394.3_Missense_Mutation_p.A571T|SF1_ENST00000377387.1_3'UTR|SF1_ENST00000422298.2_3'UTR|SF1_ENST00000227503.9_3'UTR|SF1_ENST00000377390.3_3'UTR	NM_201995.2	NP_973724.1	Q15637	SF01_HUMAN	splicing factor 1	0					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATAACTCAGGCTGCTTTGCCG	0.478000													7	146					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468114	74468114	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74468114G>A	ENST00000249842.3	+	2	1272	c.915G>A	c.(913-915)caG>caA	p.Q305Q	ISLR_ENST00000395118.1_Silent_p.Q305Q|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	305	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CGCGCTTCCAGGCCTTTGCCA	0.632000													30	60					0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8906596	8906596	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:8906596C>T	ENST00000357529.3	+	6	1866	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	RIMKLB_ENST00000538135.1_Missense_Mutation_p.R202W|RIMKLB_ENST00000535829.1_Missense_Mutation_p.R202W|RIMKLB_ENST00000299673.5_3'UTR	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	202	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTCTCATGGACGGGATGTACG	0.463000													4	110					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40571748	40571748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:40571748G>A	ENST00000339296.5	+	4	652	c.200G>A	c.(199-201)gGg>gAg	p.G67E	ZNF621_ENST00000403205.2_Missense_Mutation_p.G67E|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000310898.1_Missense_Mutation_p.G67E|ZNF621_ENST00000490457.1_3'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CTGGAGAGAGGGGAAGCACCA	0.502000													18	36					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415706	61415706	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:61415706C>T	ENST00000398571.2	-	80	10248	c.10172G>A	c.(10171-10173)aGa>aAa	p.R3391K	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3391					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAGGAGTCTCTGGTCTCATT	0.453000													5	94					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753922	38753922	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38753922G>A	ENST00000449082.2	-	22	3818	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1273					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCCCACCAGGGCATCCACCA	0.542000													40	50					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71730365	71730365	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:71730365C>T	ENST00000258104.3	+	4	535	c.258C>T	c.(256-258)gtC>gtT	p.V86V	DYSF_ENST00000410020.3_Silent_p.V87V|DYSF_ENST00000409744.1_Silent_p.V87V|DYSF_ENST00000409366.1_Silent_p.V87V|DYSF_ENST00000409582.3_Silent_p.V86V|DYSF_ENST00000394120.2_Silent_p.V87V|DYSF_ENST00000413539.2_Silent_p.V86V|DYSF_ENST00000410041.1_Silent_p.V87V|DYSF_ENST00000409651.1_Silent_p.V87V|DYSF_ENST00000409762.1_Silent_p.V86V|DYSF_ENST00000429174.2_Silent_p.V86V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	86						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAGCCAAGGTCCCACTCCGAG	0.597000													6	116					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151158381	151158381	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151158381C>T	ENST00000354473.4	-	2	199	c.163G>A	c.(163-165)Gac>Aac	p.D55N	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	55	Asp/Glu-rich (acidic).				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCACTTCGTCCTCTGTGTCT	0.517000													6	94					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66048650	66048650	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:66048650C>T	ENST00000443035.3	-	3	354	c.139G>A	c.(139-141)Gat>Aat	p.D47N	DENND4A_ENST00000431932.2_Missense_Mutation_p.D47N	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	47	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ACTGAAACATCTGTAATAGGT	0.363000													18	23					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20100305	20100305	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:20100305G>A	ENST00000404751.3	-	12	2019	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	TRMT2A_ENST00000252136.7_Silent_p.A553A|TRMT2A_ENST00000403707.3_Silent_p.A553A|TRMT2A_ENST00000439169.2_Silent_p.A571A			Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	0					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GGTTAGATGGGGCTCTGCAGA	0.632000													3	55					0	0	1	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31106774	31106774	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31106774G>A	ENST00000259845.4	-	1	353	c.30C>T	c.(28-30)atC>atT	p.I10I	PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000259881.9_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	10						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AAAGGACCAGGATCCCCAGGA	0.582000													23	34					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725631	168725631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:168725631C>T	ENST00000392690.3	+	1	174	c.82C>T	c.(82-84)Cct>Tct	p.P28S	B3GALT1_ENST00000305861.1_Missense_Mutation_p.P28S|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TATAACTCGCCCTACTTCTTC	0.463000													4	108					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4100822	4100822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:4100822C>T	ENST00000341657.4	-	8	984	c.949G>A	c.(949-951)Gct>Act	p.A317T	ANKFY1_ENST00000574367.1_Missense_Mutation_p.A317T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A359T|ANKFY1_ENST00000433651.1_Missense_Mutation_p.A317T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	317						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGTGTAGCAGCGTTGACAAAG	0.478000													11	24					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29659824	29659824	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:29659824G>A	ENST00000256062.5	-	18	2753	c.2280C>T	c.(2278-2280)cgC>cgT	p.R760R	TMTC1_ENST00000552618.1_Silent_p.R892R|TMTC1_ENST00000539277.1_Silent_p.R868R|TMTC1_ENST00000551659.1_Silent_p.R930R|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTTTCTAGGCGATCCAATT	0.453000													12	110					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76704857	76704857	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:76704857G>A	ENST00000264917.5	+	14	1550	c.1505G>A	c.(1504-1506)aGt>aAt	p.S502N	PDE8B_ENST00000340978.3_Missense_Mutation_p.S455N|PDE8B_ENST00000342343.4_Missense_Mutation_p.S482N|PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000346042.3_Missense_Mutation_p.S405N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	502					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTCACACCAGTGATCTTGTT	0.502000													5	40					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920063	4920063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:4920063C>T	ENST00000433855.1	+	1	1722	c.856C>T	c.(856-858)Cct>Tct	p.P286S	KCNA6_ENST00000280684.3_Missense_Mutation_p.P286S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	286						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTCCGCCTGCCCTAGCAAGCC	0.547000										HNSCC(72;0.22)			14	124					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057725	53057725	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53057725C>T	ENST00000359798.4	+	5	1736	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTGGCAATACCTTCCGTCAC	0.438000													26	159					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905679	83905679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83905679G>A	ENST00000340417.3	-	2	696	c.319C>T	c.(319-321)Cct>Tct	p.P107S	LIN54_ENST00000510557.1_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.P107S|LIN54_ENST00000395282.2_Missense_Mutation_p.P107S|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.P107S|LIN54_ENST00000395283.2_Missense_Mutation_p.P107S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	107					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ATAGTCACAGGAGTCTGAGCA	0.383000													30	190					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949677	198949677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:198949677C>T	ENST00000428675.1	+	2	1834	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A381V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	479	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATAAATTTGCCTTTGTTGCT	0.398000													8	63					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	37					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96880846	96880846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:96880846C>T	ENST00000394166.3	+	3	2629	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	414	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TATGGCAATTCAATAAATAAA	0.378000													6	122					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176542	8176542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:8176542C>T	ENST00000520004.1	-	6	3607	c.3343G>A	c.(3343-3345)Gcg>Acg	p.A1115T	SGK223_ENST00000330777.4_Missense_Mutation_p.A1115T			Q86YV5	SG223_HUMAN		1115	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CGCTCGTACGCCTCGGGCTCC	0.667000													46	97					0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424437	114424437	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114424437C>T	ENST00000393316.3	-	3	603	c.432G>A	c.(430-432)ggG>ggA	p.G144G	BCL2L15_ENST00000488450.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	144					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCTTGGTTCCCATTGATCA	0.493000													11	21					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022155	51022155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:51022155G>A	ENST00000599957.1	-	3	1012	c.815C>T	c.(814-816)gCc>gTc	p.A272V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A272V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	272						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTCGAAGGCGTTGCGCTC	0.657000													26	44					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97150248	97150248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:97150248G>A	ENST00000524981.4	+	57	7876	c.7853G>A	c.(7852-7854)cGt>cAt	p.R2618H						chromosome 12 open reading frame 55																		AAAATAGAACGTCAAATACTA	0.308000													23	24					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109696128	109696128	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109696128G>A	ENST00000338432.7	+	46	6438	c.6319G>A	c.(6319-6321)Gca>Aca	p.A2107T	ACACB_ENST00000377854.5_Missense_Mutation_p.A2037T|ACACB_ENST00000377848.3_Missense_Mutation_p.A2107T|ACACB_ENST00000543201.1_Missense_Mutation_p.A773T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2107	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGTGGAGGTGGCAGTCCCTGC	0.637000													4	6					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44892674	44892674	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:44892674G>A	ENST00000261866.7	-	21	3693	c.3677C>T	c.(3676-3678)cCc>cTc	p.P1226L	SPG11_ENST00000535302.2_Missense_Mutation_p.P1226L|SPG11_ENST00000558319.1_Missense_Mutation_p.P1226L|SPG11_ENST00000427534.2_Missense_Mutation_p.P1226L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1226					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTGCTTGGGAGTCTTGCT	0.418000													7	148					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150057606	150057606	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:150057606C>T	ENST00000340413.2	-	6	867		c.e6+1		NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_Splice_Site|NUP43_ENST00000460354.2_Splice_Site	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa						carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAATACTTACTTTCAGCTTC	0.368000													12	21					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274292	35274292	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35274292C>T	ENST00000356321.4	-	3	1688	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TAAAGAATTCCTCACCTGATG	0.353000													22	64					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628054	33628054	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:33628054C>T	ENST00000380099.3	+	2	978	c.970C>T	c.(970-972)Cta>Tta	p.L324L	KL_ENST00000426690.2_Silent_p.L17L|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	324	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACTTTGTACTAGGTTGGTT	0.433000													49	89					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45919513	45919513	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:45919513C>T	ENST00000374391.2	+	5	632	c.579C>T	c.(577-579)cgC>cgT	p.R193R	ALOX5_ENST00000542434.1_Silent_p.R193R	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	193	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TCATCAACCGCTTCATGCACA	0.517000													25	378					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460732	66460732	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66460732G>A	ENST00000533211.1	-	24	5110	c.4779C>T	c.(4777-4779)ttC>ttT	p.F1593F	SPTBN2_ENST00000529997.1_Silent_p.F1593F|SPTBN2_ENST00000309996.2_Silent_p.F1593F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1593					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CATCGCGGTAGAACTGCTGGG	0.637000													5	65					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663152	99663152	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:99663152G>A	ENST00000373034.4	-	1	2119	c.444C>T	c.(442-444)atC>atT	p.I148I	PCDH19_ENST00000255531.7_Silent_p.I148I|PCDH19_ENST00000420881.2_Silent_p.I148I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTCCAGCGGGATGCGCGTGC	0.607000													29	79					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825504	21825504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21825504C>T	ENST00000216297.2	-	22	2850	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	838					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTACCTCATCCAATGTCACC	0.398000													3	45					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47792728	47792728	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:47792728G>A	ENST00000398545.4	-	1	164	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	16										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTGGGGGTGGGGCCCTTAAC	0.622000													9	70					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977593	107977593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107977593C>T	ENST00000372129.2	-	1	2058	c.1982G>A	c.(1981-1983)aGa>aAa	p.R661K		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	661						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGTGGCTCCTCTGTCAACACA	0.522000													131	245					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899957	4899957	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4899957G>A	ENST00000404991.1	-	1	1668	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	494					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GCAGCAGCTGGTGAAGTTCCT	0.408000													23	68					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740758	3740758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:3740758G>A	ENST00000541714.2	+	14	2302	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	TJP3_ENST00000587686.1_Missense_Mutation_p.E633K|TJP3_ENST00000539908.2_Missense_Mutation_p.E578K|TJP3_ENST00000262968.9_Missense_Mutation_p.E647K|TJP3_ENST00000382008.3_Missense_Mutation_p.E628K|TJP3_ENST00000589378.1_Missense_Mutation_p.E623K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	628	Guanylate kinase-like.					tight junction	protein binding	p.E647K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTTGCGAGAAGGTGGGGC	0.627000													3	25					0	0	1	0	0
CDK2AP1	8099	broad.mit.edu	37	12	123746287	123746287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123746287G>A	ENST00000542174.1	-	3	1083	c.260C>T	c.(259-261)tCc>tTc	p.S87F	CDK2AP1_ENST00000538446.1_Missense_Mutation_p.S87F|CDK2AP1_ENST00000544658.1_Missense_Mutation_p.S87F|CDK2AP1_ENST00000535979.1_Missense_Mutation_p.S87F|CDK2AP1_ENST00000261692.2_Missense_Mutation_p.S115F			O14519	CDKA1_HUMAN	cyclin-dependent kinase 2 associated protein 1	115					DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle	cytoplasm|nucleus	DNA binding|protein binding			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		AGGCAGCTAGGATCTGGCATT	0.468000													6	219					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396139	39396139	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39396139G>A	ENST00000392079.3	+	3	585	c.487G>A	c.(487-489)Gac>Aac	p.D163N	NFKBIB_ENST00000313582.5_Missense_Mutation_p.D195N|NFKBIB_ENST00000572515.1_Missense_Mutation_p.D195N			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	195					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GAGTGAGGAGGACTGGAAGCT	0.617000													4	75					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435429	7435429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:7435429C>T	ENST00000319098.4	-	1	1271	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	393	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCAGAAGCTGCCCTGGTTCTC	0.622000													26	31					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223497936	223497936	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:223497936T>G	ENST00000281828.6	-	7	960	c.697A>C	c.(697-699)Atg>Ctg	p.M233L	FARSB_ENST00000536361.1_Missense_Mutation_p.M134L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	233					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATGGGAGGCATTGAAAGGACG	0.353000													5	93					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135714	207135714	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207135714A>G	ENST00000324852.4	-	5	970	c.496T>C	c.(496-498)Tat>Cat	p.Y166H	FCAMR_ENST00000450945.2_Missense_Mutation_p.Y166H|FCAMR_ENST00000400962.3_Missense_Mutation_p.Y166H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	121	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CGGTCACGATAGCGATGGTGA	0.567000													4	60					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84600896	84600896	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:84600896G>A	ENST00000262753.4	-	6	838	c.693C>T	c.(691-693)tgC>tgT	p.C231C	POF1B_ENST00000373145.3_Silent_p.C231C	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	231							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATCCACTATGGCACAGTTCAT	0.403000													22	143					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197348	32197348	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:32197348C>T	ENST00000375250.5	-	3	677	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.V146I|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.V146I|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.V146I|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.V146I	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTTAGGTTGACAGTCTGACCT	0.428000													5	108					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200584562	200584562	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200584562G>A	ENST00000367350.4	-	3	1726	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	430	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTAGGAGTGGTGCTGCTAGC	0.388000													4	73					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147675008	147675008	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:147675008G>A	ENST00000361727.3	+	15	2826	c.2310G>A	c.(2308-2310)gtG>gtA	p.V770V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	770	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAGCCAAGTGGTGGTTGGAG	0.493000										HNSCC(39;0.1)			17	79					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73569942	73569942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:73569942G>A	ENST00000261973.7	+	10	1195	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	RBM25_ENST00000527432.1_Missense_Mutation_p.E304K	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	304	Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agaaagacaggaaattgagaa	0.408000													15	15					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751555	33751555	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:33751555C>T	ENST00000504830.1	-	3	923	c.588G>A	c.(586-588)agG>agA	p.R196R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.R196R|ADAMTS12_ENST00000515401.1_Silent_p.R196R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	196					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTCTGCCTCCTGTAAACGA	0.463000										HNSCC(64;0.19)			6	61					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011675	46011675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46011675G>A	ENST00000400368.1	-	1	711	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	231	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGCAGACGGGCACGCAGCAG	0.647000													8	270					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925783	218925783	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:218925783C>T	ENST00000439871.1	-	0	597					NR_002712.1																						AGCTAGACCACCTGGCACAGA	0.542000													8	12					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713649	42713649	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42713649C>T	ENST00000244625.2	-	2	726	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TBCC_ENST00000372876.1_Missense_Mutation_p.E55K			Q15814	TBCC_HUMAN	tubulin folding cofactor C	55					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGGCTGTTCTCCTTCTCTACC	0.617000													29	49					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112721013	112721013	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:112721013G>A	ENST00000550722.1	-	8	1392	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	HECTD4_ENST00000430131.2_Missense_Mutation_p.L83F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L333F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTACTTAGAAGCATCTCATTA	0.458000													16	26					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22928147	22928147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:22928147G>A	ENST00000313077.7	+	4	351	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G76S	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	76					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTGGAGGAGGGCCAAGAATA	0.572000													4	82					0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167417853	167417853	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:167417853C>T	ENST00000366847.4	+	5	633	c.402C>T	c.(400-402)cgC>cgT	p.R134R	FGFR1OP_ENST00000349556.4_Silent_p.R134R|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGATCAGGCGCTGTCAACAGA	0.413000			T	FGFR1	"""MPD, NHL"""								30	43					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18363099	18363099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:18363099G>A	ENST00000265963.4	+	7	942	c.782G>A	c.(781-783)gGa>gAa	p.G261E	GTF2H1_ENST00000524753.4_Missense_Mutation_p.G57E|GTF2H1_ENST00000534641.1_Missense_Mutation_p.G145E|GTF2H1_ENST00000453096.2_Missense_Mutation_p.G261E	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	261					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTTCATTAGGAGTGAAAAAC	0.323000								Nucleotide excision repair (NER)					48	52					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68894030	68894030	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:68894030C>T	ENST00000261778.1	+	2	350	c.338C>T	c.(337-339)gCa>gTa	p.A113V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ATCCGCCTTGCAGCTAATTTC	0.483000													64	128					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861692	67861692	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67861692C>T	ENST00000388833.3	+	16	2150	c.1773C>T	c.(1771-1773)ggC>ggT	p.G591G	TSNAXIP1_ENST00000415766.3_Silent_p.G576G|TSNAXIP1_ENST00000561639.1_Silent_p.G645G	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	591					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGCGAGGGGGCCTGATGACCA	0.622000													11	25					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932442	39932442	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:39932442G>A	ENST00000342274.4	-	4	2519	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A	BCOR_ENST00000378455.4_Silent_p.A719A|BCOR_ENST00000397354.3_Silent_p.A719A|BCOR_ENST00000378444.4_Silent_p.A719A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	719					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAACCCCAGGGCATCTTGGT	0.567000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	87					0	0	1	0	0
EMD	2010	broad.mit.edu	37	X	153608701	153608701	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153608701C>T	ENST00000369842.4	+	4	661	c.373C>T	c.(373-375)Cca>Tca	p.P125S	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.P90S	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	125	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACTTCATTCCCAGATGCTGA	0.577000													20	47					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10251549	10251549	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10251549C>T	ENST00000340748.4	-	31	3618	c.3383G>A	c.(3382-3384)aGc>aAc	p.S1128N	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1128N|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1144N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1128	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTCTGGCTCGCTCGGCTCACA	0.612000													35	43					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119142579	119142579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:119142579C>T	ENST00000264033.4	+	3	954	c.578C>T	c.(577-579)gCt>gTt	p.A193V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	193	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGGAGAAAAGCTTTTGGGGAA	0.333000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				4	87					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48713874	48713874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:48713874G>A	ENST00000294952.8	+	14	1580	c.1423G>A	c.(1423-1425)Gca>Aca	p.A475T	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A475T|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A475T	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	475										endometrium(2)|kidney(4)|lung(9)	15						ATCAGTAGTGGCATTAACAAA	0.363000													17	47					0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584248	23584248	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:23584248C>T	ENST00000376971.3	-	2	390	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	127						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					AAGCTGATGCCCTGTCTTACG	0.512000													39	67					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110211977	110211977	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:110211977C>T	ENST00000369831.2	+	4	337	c.243C>T	c.(241-243)gcC>gcT	p.A81A	GSTM2_ENST00000369827.3_Silent_p.A79A|GSTM2_ENST00000241337.4_Silent_p.A81A|GSTM2_ENST00000442650.1_Silent_p.A81A|GSTM2_ENST00000460717.3_Silent_p.A81A|GSTM2_ENST00000369829.2_Silent_p.A81A|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000464206.1_3'UTR					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTACATTGCCCGCAAGCACA	0.572000													12	217					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673338	30673338	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30673338C>T	ENST00000376406.3	-	10	4269	c.3622G>A	c.(3622-3624)Gag>Aag	p.E1208K	MDC1_ENST00000376405.2_Missense_Mutation_p.E944K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1208	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGCTGGAGCTCAAGGGCTGTG	0.537000								Other conserved DNA damage response genes					20	224					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698128	40698128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40698128C>T	ENST00000253055.3	+	1	478	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	64	SH3.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGGGCAGCTCCCCAGCGGCCG	0.736000													6	8					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43550781	43550781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43550781G>A	ENST00000372236.4	+	3	470	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	POLH_ENST00000372226.1_Missense_Mutation_p.V59I|POLH_ENST00000535400.1_5'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	59	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGCATTTGGAGTCACTAGAAG	0.388000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				6	66					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104471612	104471612	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:104471612G>A	ENST00000409874.4	+	15	1631	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TDRD9_ENST00000339063.5_Splice_Site_p.R528H	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	528	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TCTTTTCAGCGTTGTCCATTA	0.463000													10	8					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27895955	27895955	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:27895955G>A	ENST00000447459.2	-	3	486	c.402C>T	c.(400-402)gtC>gtT	p.V134V	GSG1L_ENST00000380898.2_5'UTR|GSG1L_ENST00000380897.3_5'UTR|GSG1L_ENST00000395724.3_Intron	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	134						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ACAGCCACAGGACCCCTGTCC	0.572000													6	4					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99344566	99344566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:99344566G>A	ENST00000370646.4	+	1	467	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	PI4K2A_ENST00000555577.1_Missense_Mutation_p.A36T|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A36T|HOGA1_ENST00000370647.4_Missense_Mutation_p.A36T	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GGTGGACATTGCGGGTATCTA	0.597000													6	84					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100880722	100880722	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100880722G>A	ENST00000401528.1	-	2	1266	c.141C>T	c.(139-141)aaC>aaT	p.N47N	CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Silent_p.N47N	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	47					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TAAACCAGAGGTTCTCGAAGA	0.612000													8	31					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193002	42193002	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42193002C>T	ENST00000220325.4	-	6	1550	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	489	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGGCCAGCTTCCAGATCT	0.582000													11	19					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41516479	41516479	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:41516479G>A	ENST00000400454.1	-	17	3675	c.3198C>T	c.(3196-3198)gcC>gcT	p.A1066A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1066	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCGGTTACAGGCCTGCACCA	0.577000													15	77					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903721	11903721	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:11903721G>A	ENST00000405977.1	+	5	1601	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	BTBD3_ENST00000378226.2_Missense_Mutation_p.A326T|BTBD3_ENST00000399006.2_Missense_Mutation_p.A265T|BTBD3_ENST00000254977.3_Missense_Mutation_p.A265T	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	326										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCCACAATGGCCCTCGATGA	0.468000													14	107					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76639984	76639984	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:76639984G>A	ENST00000556663.1	+	4	1718	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I	GPATCH2L_ENST00000312858.5_Intron|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.V334I|GPATCH2L_ENST00000261530.7_Intron					G patch domain containing 2-like																		ACCTCTCACAGTTAGCTTGGC	0.488000													7	76					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51667773	51667773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51667773C>T	ENST00000409535.2	+	7	1131	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P30S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)		Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity	p.P336S(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGCCATTGTGCCGGTAAGAGT	0.507000													4	81					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65370939	65370939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:65370939G>A	ENST00000284037.5	+	23	4233	c.3844G>A	c.(3844-3846)Gca>Aca	p.A1282T	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A1237T|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A1289T|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A1241T|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A480T|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A1230T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1282					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCATCTGTGGCAAGGCATCC	0.478000													6	82					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46288939	46288939	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46288939C>T	ENST00000593999.1	-	1	292	c.293G>A	c.(292-294)gGc>gAc	p.G98D	DMWD_ENST00000270223.6_Silent_p.R605R|DMWD_ENST00000377735.3_Silent_p.R605R																							GGACTGTGAGCCGCTCCTGGG	0.687000													11	13					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151482	160151482	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:160151482G>A	ENST00000368081.4	+	19	3216	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.E51E	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	915					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGACCTATGAGCAACGAAAAG	0.527000													13	44					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10793300	10793300	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10793300C>T	ENST00000449870.1	+	13	1785	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	ILF3_ENST00000420083.1_Missense_Mutation_p.P490S|ILF3_ENST00000592763.1_Missense_Mutation_p.P490S|ILF3_ENST00000590261.1_Missense_Mutation_p.P490S|ILF3_ENST00000407004.3_Missense_Mutation_p.P490S|ILF3_ENST00000318511.3_Missense_Mutation_p.P490S|ILF3_ENST00000250241.8_Missense_Mutation_p.P490S|ILF3_ENST00000588657.1_Missense_Mutation_p.P490S|ILF3_ENST00000589998.1_Missense_Mutation_p.P490S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	490					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGGCGAAGCCAGCAGTGGT	0.652000													11	21					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3107085	3107085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:3107085C>T	ENST00000336577.4	+	5	950	c.713C>T	c.(712-714)gCc>gTc	p.A238V	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	238					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TTTGGCCACGCCCTGGGCCTG	0.647000													58	77					0	0	1	0	0
NUDCD2	134492	broad.mit.edu	37	5	162886873	162886873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:162886873G>A	ENST00000302764.4	-	1	273	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	NUDCD2_ENST00000517501.1_Missense_Mutation_p.L62F	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	62	CS.					intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		GCTACCTTGAGGATCTCGCGG	0.657000													4	74					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216236738	216236738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216236738C>T	ENST00000354785.4	-	40	6977	c.6608G>A	c.(6607-6609)gGa>gAa	p.G2203E	FN1_ENST00000346544.3_Splice_Site_p.G1992E|FN1_ENST00000446046.1_Splice_Site_p.G2056E|FN1_ENST00000356005.4_Missense_Mutation_p.G2022E|FN1_ENST00000432072.2_Splice_Site_p.G1993E|FN1_ENST00000357867.4_Splice_Site_p.G1902E|FN1_ENST00000359671.1_Missense_Mutation_p.G2112E|FN1_ENST00000443816.1_Splice_Site_p.G1991E|FN1_ENST00000345488.5_Intron|FN1_ENST00000421182.1_Splice_Site_p.G1966E|FN1_ENST00000357009.2_Splice_Site_p.G1992E|FN1_ENST00000323926.6_Splice_Site_p.G2172E|FN1_ENST00000336916.4_Splice_Site_p.G2081E			P02751	FINC_HUMAN	fibronectin 1	2112					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTTCTTGTCCTGTAGAGGC	0.488000													6	87					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113305118	113305118	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113305118C>T	ENST00000263331.5	+	3	1046	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	POLR1B_ENST00000541869.1_Missense_Mutation_p.L194F|POLR1B_ENST00000417433.2_Missense_Mutation_p.L100F|POLR1B_ENST00000409894.3_Missense_Mutation_p.L156F|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	156					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCCACAAGCCCTCATTGAGCA	0.483000													25	35					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25606749	25606749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:25606749C>T	ENST00000406818.3	-	19	2084	c.1835G>A	c.(1834-1836)gGt>gAt	p.G612D	DTNB_ENST00000407661.3_Intron|DTNB_ENST00000404103.3_Missense_Mutation_p.G582D|DTNB_ENST00000407038.3_Missense_Mutation_p.G552D|DTNB_ENST00000288642.8_Missense_Mutation_p.G582D|DTNB_ENST00000407186.1_Missense_Mutation_p.G575D|DTNB_ENST00000496972.2_Intron|DTNB_ENST00000405222.1_Missense_Mutation_p.G545D|DTNB_ENST00000545439.1_Missense_Mutation_p.G401D	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	612						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCTGCACCTTCCTCTGC	0.527000													6	140					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202400743	202400743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:202400743C>T	ENST00000450242.1	-	13	1554	c.1507G>A	c.(1507-1509)Gta>Ata	p.V503I	ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000439140.1_Splice_Site|ALS2CR11_ENST00000286195.3_Splice_Site	NM_001168217.1	NP_001161689.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	503										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTCAAATTTACCTCTGATAGA	0.318000													3	39					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47057340	47057340	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:47057340G>A	ENST00000406902.1	+	5	679		c.e5+1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AATGGAGCAGGTACACCCTgg	0.612000													21	32					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5273480	5273480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:5273480C>T	ENST00000372412.4	-	4	585	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PTPRS_ENST00000587303.1_Missense_Mutation_p.V118I|PTPRS_ENST00000262963.6_Missense_Mutation_p.V118I|PTPRS_ENST00000348075.2_Missense_Mutation_p.V118I|PTPRS_ENST00000588012.1_Missense_Mutation_p.V118I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V118I|PTPRS_ENST00000353284.2_Missense_Mutation_p.V118I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.V118I|PTPRS_ENST00000590509.1_Missense_Mutation_p.V118I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	118	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGGCATGGACTGTGATCTCC	0.587000													19	34					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101611921	101611921	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:101611921C>T	ENST00000335681.5	+	21	2637	c.2352C>T	c.(2350-2352)taC>taT	p.Y784Y	NPAS2_ENST00000542504.1_Silent_p.Y849Y|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	784					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCCACCTACTCACAACAGC	0.572000													32	60					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551754	100551754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100551754C>T	ENST00000319509.7	+	1	505	c.505C>T	c.(505-507)Cca>Tca	p.P169S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACTCTTACTCCATCAACAGC	0.493000													10	485					0	0	1	0	0
POC1B	282809	broad.mit.edu	37	12	89864179	89864179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:89864179G>A	ENST00000393179.4	-	5	992	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Missense_Mutation_p.L257F|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000549035.1_Missense_Mutation_p.L215F|POC1B_ENST00000541909.1_Missense_Mutation_p.L127F					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						CCTTCTAAGAGGTCCAGAATC	0.343000													19	35					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377096	138377096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138377096G>A	ENST00000356818.2	+	4	1289	c.740G>A	c.(739-741)gGg>gAg	p.G247E	PPP1R26_ENST00000605286.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G247E|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G247E|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G247E	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	247						nucleolus	protein binding										AAATGTGATGGGTCAGTGGAG	0.502000													39	108					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209820	65209820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:65209820C>T	ENST00000247226.7	+	15	3199	c.2891C>T	c.(2890-2892)tCt>tTt	p.S964F	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S525F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S553F|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S1020F	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1020					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCAACCCGTCTGCTGTCAGC	0.652000													33	95					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543350	28543350	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28543350C>T	ENST00000452236.2	-	3	1749	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	378	Integrase catalytic.				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						TCTATAAGATCTACTTGGCAT	0.348000													41	76					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721376	7721376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7721376C>T	ENST00000572933.1	+	68	11809	c.10349C>T	c.(10348-10350)aCa>aTa	p.T3450I	DNAH2_ENST00000389173.2_Missense_Mutation_p.T3450I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3450	AAA 5 (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)				CTGGACCCCACACTGAACCCC	0.542000													5	82					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56578702	56578702	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56578702G>A	ENST00000394023.3	-	5	523	c.418C>T	c.(418-420)Cct>Tct	p.P140S	SMARCC2_ENST00000347471.4_Missense_Mutation_p.P140S|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P140S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P140S	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	140					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAAATGTTAGGTCGAGACAGG	0.403000													24	67					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425324	71425324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:71425324G>A	ENST00000373657.1	-	3	3526	c.2924C>T	c.(2923-2925)tCt>tTt	p.S975F	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1098F			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1098					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTAATAAGAGACCTCCTAGA	0.423000													4	100					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39950230	39950230	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39950230G>A	ENST00000599117.1	+	10	922		c.e10+1		SUPT5H_ENST00000432763.2_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAATGTAAGGTATGTGCTCT	0.547000													49	94					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165758	118165758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:118165758G>A	ENST00000369448.3	+	2	515	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	90										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGCTGCAAAGACCTGGACCT	0.547000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			8	110					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112327861	112327861	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:112327861G>A	ENST00000389063.2	+	3	447	c.249G>A	c.(247-249)gtG>gtA	p.V83V	DCP2_ENST00000515408.1_Silent_p.V83V|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	83					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GTGAAGATGTGGAAAAAGTTT	0.338000													6	89					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30311687	30311687	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:30311687G>A	ENST00000262643.3	+	7	820	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CCNE1_ENST00000444983.2_Missense_Mutation_p.E166K|CCNE1_ENST00000357943.5_Intron	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	181					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGCGACACAAGAAAATGTTGT	0.318000			A		serous ovarian								31	54					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117058385	117058385	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:117058385G>A	ENST00000324225.4	+	12	1660	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G381S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	377						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGACAGCGCTGGCACTGGGGA	0.602000													26	57					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221367	56221367	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56221367C>T	ENST00000357606.3	-	3	1365	c.1076G>A	c.(1075-1077)aGg>aAg	p.R359K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R359K|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R359K			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	359					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCCTTATCCCTCCAGCCTAA	0.572000													30	56					0	0	1	0	0
CYGB	114757	broad.mit.edu	37	17	74527581	74527581	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74527581G>A	ENST00000293230.5	-	2	698	c.336C>T	c.(334-336)gcC>gcT	p.A112A	CYGB_ENST00000589342.1_Silent_p.A112A|CYGB_ENST00000589145.1_Silent_p.A47A|CYGB_ENST00000590175.1_Silent_p.A47A|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	112	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TGAGGGCGTGGGCTTTCCCCA	0.637000													14	48					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018731	112018731	+	Missense_Mutation	SNP	G	G	A	rs144325998	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:112018731G>A	ENST00000374566.3	-	8	1299	c.782C>T	c.(781-783)tCc>tTc	p.S261F	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S261F	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCAGATAGGAGAGTTCCGC	0.473000													6	108					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590704	179590704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179590704C>T	ENST00000589042.1	-	70	20569	c.20345G>A	c.(20344-20346)tGt>tAt	p.C6782Y	TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C5538Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C6465Y|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6465	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAAAGTTCACATTCAAGACT	0.418000													4	44					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744889	50744889	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:50744889C>T	ENST00000300589.2	+	4	1172	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	356	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGTTGGCCTGATGTTGGT	0.507000													5	80					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420904	159420904	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:159420904G>A	ENST00000252655.1	-	1	294	c.105C>T	c.(103-105)gtC>gtT	p.V35V	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Silent_p.V35V	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	35										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CGGCACAAGGGACTTCCGGCT	0.692000													11	32					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40329772	40329772	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40329772C>T	ENST00000221801.3	-	5	565	c.452G>A	c.(451-453)gGt>gAt	p.G151D		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	151					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CTGGTCCACACCACCCAGGAT	0.572000													20	55					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084740	100084740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100084740C>T	ENST00000423930.1	+	3	524	c.365C>T	c.(364-366)cCc>cTc	p.P122L	NYAP1_ENST00000300179.2_Missense_Mutation_p.P122L|NYAP1_ENST00000454988.1_Missense_Mutation_p.P65L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	122																	CGGAGACACCCCAGCACCAAG	0.682000													3	37					0	0	1	0	0
CSF2	1437	broad.mit.edu	37	5	131411442	131411442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:131411442C>T	ENST00000296871.2	+	4	366	c.332C>T	c.(331-333)aCt>aTt	p.T111I		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	111					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TTAAAGGAAACTTCCTGTGCA	0.448000													6	124					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991637	72991637	+	Missense_Mutation	SNP	G	G	A	rs146778775		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:72991637G>A	ENST00000268489.5	-	2	3080	c.2408C>T	c.(2407-2409)aCc>aTc	p.T803I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	803					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCACCGCCAGGTGGGTTTGGT	0.622000													4	175					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322554	134322554	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:134322554G>A	ENST00000508956.1	-	10	1847	c.1790C>T	c.(1789-1791)aCc>aTc	p.T597I	KY_ENST00000423778.2_Missense_Mutation_p.T618I|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GTGGTTCAGGGTCAGGGGCCA	0.552000													15	35					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938763	14938763	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:14938763G>A	ENST00000322301.3	-	2	378	c.291C>T	c.(289-291)tgC>tgT	p.C97C	OR7A5_ENST00000594432.1_Silent_p.C97C|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCTGCATGAGGCAGGCTATGT	0.463000													11	131					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768119	45768119	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:45768119C>T	ENST00000357450.4	-	13	2111	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	SMC1B_ENST00000404354.3_Silent_p.L704L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	704					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCCTGTATCAGGGTCTGTA	0.333000													19	54					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41791806	41791806	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:41791806G>A	ENST00000266304.4	+	4	870	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TEF_ENST00000406644.3_Missense_Mutation_p.D222N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	252					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACGGTCACGGGATGCCCGGCG	0.582000													30	57					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5784166	5784166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5784166C>T	ENST00000328090.5	+	14	3059	c.2434C>T	c.(2434-2436)Cga>Tga	p.R812*	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	812								p.R812R(1)									ACGATCTTCCCGAAAGGTTGT	0.398000													6	131					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939404	40939404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40939404G>A	ENST00000246914.5	+	7	1606	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	529					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TAAAGCAAGGGAATTGGAGGC	0.627000													5	59					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83813722	83813722	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:83813722C>T	ENST00000566620.1	+	12	2121	c.1831C>T	c.(1831-1833)Ctt>Ttt	p.L611F	CDH13_ENST00000268613.10_Missense_Mutation_p.L658F|CDH13_ENST00000428848.3_Missense_Mutation_p.L572F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	611	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGATAAGGATCTTCACCCGAA	0.423000													4	34					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44589001	44589001	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:44589001C>T	ENST00000322927.2	-	14	1966	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ZNF335_ENST00000426788.1_Silent_p.K467K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGAACTCACACTTGAACCTGG	0.552000													4	51					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620515	15620515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:15620515C>T	ENST00000464847.2	+	5	2030	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.P493S|ZNF286A_ENST00000593105.1_Missense_Mutation_p.P483S|ZNF286A_ENST00000421016.1_Missense_Mutation_p.P493S|ZNF286A_ENST00000413242.2_Missense_Mutation_p.P493S|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CGGAGAGAAACCCTTTAGATG	0.398000													5	10					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134253029	134253029	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:134253029G>A	ENST00000457545.2	+	4	530	c.270G>A	c.(268-270)aaG>aaA	p.K90K	AKR1B15_ENST00000423958.1_Silent_p.K62K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	90							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCCAAGAGAAGATCCAAGAGA	0.507000													4	146					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3009684	3009684	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:3009684C>T	ENST00000262953.6	-	13	1291	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	TLE2_ENST00000426948.2_Silent_p.L357L|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000590536.1_Silent_p.L344L|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Silent_p.L357L|TLE2_ENST00000455444.2_Silent_p.L221L|TLE2_ENST00000443826.3_Silent_p.L221L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	343	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGAGTCAGGGGGCTCC	0.642000													11	15					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69772032	69772032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:69772032G>A	ENST00000395889.2	-	29	2664	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	TEX11_ENST00000374333.2_Missense_Mutation_p.P822S|TEX11_ENST00000344304.3_Missense_Mutation_p.P837S|TEX11_ENST00000374320.2_Missense_Mutation_p.P512S	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	837							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTTCCAGGGGACAGAGCTCT	0.403000													29	32					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64966373	64966373	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:64966373G>A	ENST00000326648.3	+	4	1448	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	440						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAATAAGCGGAAAAACAAAC	0.557000													4	86					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56524709	56524709	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56524709G>A	ENST00000394048.5	+	3	831	c.567G>A	c.(565-567)aaG>aaA	p.K189K	ESYT1_ENST00000267113.4_Splice_Site_p.K189K|ESYT1_ENST00000541590.1_Splice_Site_p.K189K	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	189						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGGTGAAAAGGTATGTGTGG	0.522000													27	42					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119267	72119267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:72119267G>A	ENST00000356056.5	-	42	7773	c.7301C>T	c.(7300-7302)tCc>tTc	p.S2434F	MYO9A_ENST00000424560.1_Missense_Mutation_p.S2505F|MYO9A_ENST00000444904.1_Missense_Mutation_p.S2415F|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2434	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACATAAAGAGGAGACCGAAGA	0.453000													6	56					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6155517	6155517	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:6155517G>A	ENST00000446108.1	+	9	1547	c.903G>A	c.(901-903)aaG>aaA	p.K301K	RBM17_ENST00000379888.4_Silent_p.K301K|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	301					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AAATACTTAAGTGTCCTACTA	0.443000													34	116					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74745624	74745624	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74745624C>T	ENST00000404568.3	-	12	2322	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	DQX1_ENST00000393951.2_Silent_p.G701G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	701						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ATGATTTGCTCCCTGCTGTAG	0.512000													6	41					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916948	150916948	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:150916948C>T	ENST00000309180.5	-	3	456	c.226G>A	c.(226-228)Ggt>Agt	p.G76S	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	76						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGCCACACCCAAGTCAACA	0.393000													3	52					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330220	7330220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7330220G>A	ENST00000333870.3	+	3	984	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	304						integral to membrane		p.G304S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCTCAGTGGGCTGGATGCT	0.697000													15	40					0	0	1	0	0
LRRC29	26231	broad.mit.edu	37	16	67241819	67241819	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67241819G>A	ENST00000409037.1	-	3	1356	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	LRRC29_ENST00000409509.1_Silent_p.L154L|LRRC29_ENST00000393992.1_Silent_p.L154L|LRRC29_ENST00000341546.3_Silent_p.L154L			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	154	F-box.									autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGATGCTGCAGCCTTGGCCAG	0.637000													33	43					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34378363	34378363	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:34378363C>T	ENST00000435224.2	-	1	1192	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ABTB2_ENST00000298992.2_Silent_p.G70G	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	70							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGCCTCCGGCCCCTCCGCCAT	0.652000													5	9					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50334116	50334116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50334116C>T	ENST00000312865.6	+	9	1126	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	MED25_ENST00000538643.1_Missense_Mutation_p.P145L	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	358	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GGCCTGGCTCCCACGGCACAG	0.687000													7	56					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73771724	73771724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:73771724G>A	ENST00000223398.6	+	6	1459	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	CLIP2_ENST00000395060.1_Missense_Mutation_p.E378K|CLIP2_ENST00000361545.5_Missense_Mutation_p.E378K	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	378						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACGAGACCTGGAACGGGCTGA	0.617000													10	27					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55964863	55964863	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:55964863C>T	ENST00000263923.4	-	16	2669		c.e16+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TATTTTTTTACCCGCTTAACG	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			32	50					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22293960	22293960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22293960C>T	ENST00000263212.5	-	3	404	c.299G>A	c.(298-300)aGg>aAg	p.R100K	LL22NC03-86G7.1_ENST00000458178.1_RNA|LL22NC03-86G7.1_ENST00000538634.1_RNA|PPM1F_ENST00000397495.4_Missense_Mutation_p.R100K	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	100					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ttcttcctccCTGGGCAACTT	0.572000													3	8					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99090021	99090021	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:99090021C>T	ENST00000376586.2	+	20	2612	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	FARP1_ENST00000595437.1_Splice_Site_p.P759L|FARP1_ENST00000319562.6_Intron			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	758	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			tcccaccagcctggctccttt	0.512000													12	44					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155408672	155408672	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155408672G>A	ENST00000368346.3	-	5	5913	c.5274C>T	c.(5272-5274)acC>acT	p.T1758T	ASH1L_ENST00000392403.3_Silent_p.T1758T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1758	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTTTCCCAGGGTTCGGTCCT	0.502000													13	68					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96801150	96801150	+	Splice_Site	SNP	C	C	T	rs144520713	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96801150C>T	ENST00000342380.2	-	3	182	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	61					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCAGGATGAGCCCTGGGAAAG	0.557000													6	10					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26911415	26911415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26911415C>T	ENST00000321765.5	-	12	2577	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	749	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATAGCCAGGTCCTGGGCACAA	0.522000													34	172					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25639875	25639875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:25639875G>A	ENST00000435706.2	-	36	4990	c.4789C>T	c.(4789-4791)Cgg>Tgg	p.R1597W	TOP2B_ENST00000264331.4_Missense_Mutation_p.R1602W|TOP2B_ENST00000542520.1_Missense_Mutation_p.R454W|TOP2B_ENST00000540199.1_Missense_Mutation_p.R454W			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1602					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TTCCTAGCCCGACCGGTTCGT	0.413000													25	38					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698188	17698188	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:17698188C>T	ENST00000399080.2	-	1	1518	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	499										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACATGAAAGACTTTTTGTGTA	0.274000													77	272					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379366	113379366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:113379366G>A	ENST00000316407.4	-	7	1573	c.1163C>T	c.(1162-1164)aCt>aTt	p.T388I	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.T388I	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	388					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCCGAAAGAGTGCTTATAGG	0.433000													20	32					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459829	86459829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:86459829G>A	ENST00000165698.5	-	6	657	c.514C>T	c.(514-516)Cca>Tca	p.P172S	REEP1_ENST00000540790.1_Missense_Mutation_p.P151S|REEP1_ENST00000538924.1_Missense_Mutation_p.P179S|REEP1_ENST00000541910.1_Silent_p.H93H|REEP1_ENST00000535845.1_Missense_Mutation_p.P145S	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	172	Poly-Pro.				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GACCCCGGTGGTGGGGGGCCC	0.647000													11	21					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713762	138713762	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138713762G>A	ENST00000389532.4	-	11	2809	c.2745C>T	c.(2743-2745)ttC>ttT	p.F915F	CAMSAP1_ENST00000312405.6_Silent_p.F637F|CAMSAP1_ENST00000409386.3_Silent_p.F926F|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	915						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCACATGCAGGAATGCAGCCT	0.627000													62	114					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50664156	50664156	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:50664156C>T	ENST00000268459.3	+	7	746	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCAACCACTCCCCAACATCCA	0.587000													27	62					0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113346443	113346443	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113346443G>A	ENST00000324913.5	+	4	517	c.310G>A	c.(310-312)Gca>Aca	p.A104T	CHCHD5_ENST00000409719.1_3'UTR	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	104										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCTCCACAGGCACAGCCACT	0.592000													15	18					0	0	1	0	0
RPL36	25873	broad.mit.edu	37	19	5691425	5691425	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:5691425C>T	ENST00000577222.1	+	5	733	c.189C>T	c.(187-189)gtC>gtT	p.V63V	RPL36_ENST00000394580.2_Silent_p.V63V|RPL36_ENST00000347512.3_Silent_p.V63V|RPL36_ENST00000579649.1_Silent_p.V63V|RPL36_ENST00000579446.1_Silent_p.V63V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	63					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						TACTGAAGGTCTCCAAGGACA	0.622000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	48					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88901741	88901741	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88901741C>T	ENST00000268695.5	-	8	866	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GALNS_ENST00000542788.1_Missense_Mutation_p.E185K	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	260			E -> D (in MPS4A).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TCATCAATCTCCCGGACGGCG	0.552000													16	21					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76388034	76388034	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:76388034G>A	ENST00000284142.6	-	2	551	c.412C>T	c.(412-414)Cca>Tca	p.P138S		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	138					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTATACTGGTGTGAAAGTT	0.328000													4	30					0	0	1	0	0
PRPS1	5631	broad.mit.edu	37	X	106890850	106890850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:106890850G>A	ENST00000372435.4	+	6	841	c.719G>A	c.(718-720)gGc>gAc	p.G240D	PRPS1_ENST00000372428.4_Missense_Mutation_p.G173D|PRPS1_ENST00000543248.1_Missense_Mutation_p.G240D|PRPS1_ENST00000372418.1_Missense_Mutation_p.G140D	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	240					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CTCTCAGCTGGCGCCACCAGA	0.443000													42	81					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472425	66472425	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66472425C>T	ENST00000533211.1	-	15	2653	c.2322G>A	c.(2320-2322)gaG>gaA	p.E774E	SPTBN2_ENST00000529997.1_Silent_p.E774E|SPTBN2_ENST00000309996.2_Silent_p.E774E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	774			E -> K (in a colorectal cancer sample; somatic mutation).		actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTGCCCCAGCTCGGGGCTGG	0.667000													19	38					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3953085	3953085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3953085G>A	ENST00000381638.2	-	37	6056	c.5932C>T	c.(5932-5934)Cca>Tca	p.P1978S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1978							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACAGTGACTGGTAGGGCCTGA	0.512000													21	50					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603374	28603374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28603374C>T	ENST00000533150.1	-	4	1880	c.764G>A	c.(763-765)aGc>aAc	p.S255N	SULT1A2_ENST00000395630.1_Missense_Mutation_p.S288N|SULT1A2_ENST00000335715.4_Missense_Mutation_p.S288N			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	288					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GAAGCTGAGGCTGCAGCCTGC	0.577000													10	22					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170476892	170476892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:170476892G>A	ENST00000439128.2	-	17	2181	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	NEK1_ENST00000507142.1_Missense_Mutation_p.S514F|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000511633.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	514					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GGCTTGTTTAGACACCGCCTT	0.408000													22	12					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397464	56397464	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56397464G>A	ENST00000394109.3	+	3	1015	c.291G>A	c.(289-291)gaG>gaA	p.E97E	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000394115.2_Silent_p.E97E|SUOX_ENST00000356124.4_Silent_p.E97E|SUOX_ENST00000266971.3_Silent_p.E97E|SUOX_ENST00000548274.1_Silent_p.E97E|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	97	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CCAGCCCTGAGACTGGGATCT	0.522000													4	66					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72865312	72865312	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:72865312G>A	ENST00000339594.4	-	14	3783	c.3445C>T	c.(3445-3447)Ctg>Ttg	p.L1149L	BAZ1B_ENST00000404251.1_Silent_p.L1149L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1149					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATTTCTCCAGTGCAGATGCA	0.493000													4	69					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31903805	31903805	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31903805G>A	ENST00000299367.5	+	7	1231	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.V187M|C2_ENST00000469372.1_Missense_Mutation_p.V73M	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TATGACTGAGGTGATCAGCAG	0.502000													3	43					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358304	72358304	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72358304G>A	ENST00000441259.1	-	3	1333	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	PRF1_ENST00000373209.2_Silent_p.D391D	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	391	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACTGGCATGGGTCTCGGGGGC	0.677000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				10	13					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101595382	101595382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:101595382G>A	ENST00000284395.5	+	28	4677	c.4277G>A	c.(4276-4278)gGc>gAc	p.G1426D	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.G1429D			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1429	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCACTCCTGGCTACCAGGCC	0.587000													7	58					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316877	39316877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39316877G>A	ENST00000390661.3	-	1	106	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	23	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGTAGCTGGGACGGCAGCAG	0.632000													14	105					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102348564	102348564	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102348564G>A	ENST00000422945.2	+	5	550	c.454G>A	c.(454-456)Gag>Aag	p.E152K	PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E121K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E121K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E121K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E176K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E121K	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	121					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATTTGACCCGGAGGAAGATGA	0.483000													11	16					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29046646	29046646	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:29046646G>A	ENST00000257189.4	+	11	1648	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	522					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGATACACTGGCCCCTATACA	0.428000													4	112					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96422893	96422893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:96422893C>T	ENST00000228740.2	-	2	371	c.230G>A	c.(229-231)gGa>gAa	p.G77E	LTA4H_ENST00000413268.2_Missense_Mutation_p.G53E|LTA4H_ENST00000552789.1_Missense_Mutation_p.G53E	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	77					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TTGTCTTTCTCCAAGAGCATA	0.313000													4	78					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123420294	123420294	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:123420294G>A	ENST00000360772.3	-	18	2831	c.2453C>T	c.(2452-2454)gCc>gTc	p.A818V	MYLK_ENST00000360304.3_Missense_Mutation_p.A818V|MYLK_ENST00000475616.1_Missense_Mutation_p.A818V|MYLK_ENST00000359169.1_Missense_Mutation_p.A818V|MYLK_ENST00000346322.5_Missense_Mutation_p.A749V			Q15746	MYLK_HUMAN	myosin light chain kinase	818	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTGGAAGGGCTCTGGCAGA	0.602000													21	29					0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52470728	52470728	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:52470728G>A	ENST00000336854.4	+	4	889	c.411G>A	c.(409-411)cgG>cgA	p.R137R	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	137					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		AGCAGGAGCGGCAGATCTGCC	0.562000													19	32					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55994188	55994188	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55994188G>A	ENST00000598519.1	+	3	2181	c.1628G>A	c.(1627-1629)tGt>tAt	p.C543Y	ZNF628_ENST00000391718.2_Missense_Mutation_p.C539Y			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	539						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGCGGGGAGTGTGGCAAGGCC	0.682000													19	28					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29274887	29274887	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:29274887C>T	ENST00000379558.4	+	20	3339	c.2988C>T	c.(2986-2988)cgC>cgT	p.R996R	FAM179A_ENST00000403861.2_Silent_p.R941R|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	996							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGCAGCCGCAAGGCCACTG	0.552000													7	13					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121614951	121614951	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:121614951G>A	ENST00000328963.5	+	9	918	c.464G>A	c.(463-465)gGa>gAa	p.G155E	P2RX7_ENST00000541446.1_Splice_Site_p.G36E|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Splice_Site_p.G236E|P2RX7_ENST00000546057.1_Splice_Site_p.G325E|P2RX7_ENST00000535250.1_Splice_Site_p.G235E			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	325						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTTTTAGGGAGGAAAATTT	0.448000													6	77					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44804980	44804980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:44804980C>T	ENST00000372257.2	-	3	407	c.226G>A	c.(226-228)Gga>Aga	p.G76R	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	76						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATTGAACATCCAGAAGCATCT	0.373000													36	106					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100536378	100536378	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100536378G>A	ENST00000279907.7	-	1	248	c.36C>T	c.(34-36)caC>caT	p.H12H	UHRF1BP1L_ENST00000356828.3_Silent_p.H12H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	12										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACCTGGAGAGGTGCTTCAAGA	0.672000													4	7					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44191896	44191896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44191896C>T	ENST00000403799.3	-	3	806	c.337G>A	c.(337-339)Gac>Aac	p.D113N	GCK_ENST00000395796.3_Missense_Mutation_p.D112N|GCK_ENST00000345378.2_Missense_Mutation_p.D114N|GCK_ENST00000437084.1_Missense_Mutation_p.D113N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	113					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GTCATGGCGTCCTCGGGGATG	0.637000													33	101					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456040	30456040	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30456040C>T	ENST00000478753.2	-	1	1462	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	SEPHS2_ENST00000500504.2_Missense_Mutation_p.V337M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.V280M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	337					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACAAAGGACACTTCATTTCTT	0.458000													8	116					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36550890	36550890	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36550890G>A	ENST00000207457.3	+	3	409		c.e3+1			NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)						cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTGACACAGGCAGGGATCCA	0.582000													18	47					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66613435	66613435	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66613435G>A	ENST00000309657.3	+	8	903	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	RCE1_ENST00000525356.1_Missense_Mutation_p.G164S|RCE1_ENST00000524506.1_Missense_Mutation_p.G266S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	287					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTGCTGGCAGGCTATGCCCT	0.622000													38	82					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139846894	139846894	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139846894G>A	ENST00000371633.3	+	1	114		c.e1+1			NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12						lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGGAAACCAGGTACAGGGGTT	0.647000													6	14					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37369329	37369329	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:37369329C>T	ENST00000333461.5	-	10	1419	c.1050G>A	c.(1048-1050)agG>agA	p.R350R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	350	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCTCGCCTGGCCTCACCCGTT	0.602000													33	38					0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93217220	93217220	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:93217220G>A	ENST00000395965.3	-	7	884	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	FAM172A_ENST00000505869.1_Missense_Mutation_p.R138C|FAM172A_ENST00000509163.1_Missense_Mutation_p.R202C|FAM172A_ENST00000509739.1_Missense_Mutation_p.R101C	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	248						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGGGGGTTACGATACTTCTCA	0.328000													54	57					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140449968	140449968	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140449968C>T	ENST00000277540.2	-	9	1239	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CGTCTTGGTTCCTAGGTTGCT	0.597000													4	76					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158585880	158585880	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:158585880G>A	ENST00000424310.2	-	11	2149	c.1790C>T	c.(1789-1791)gCt>gTt	p.A597V	RNF145_ENST00000521606.2_Missense_Mutation_p.A614V|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Missense_Mutation_p.A611V|RNF145_ENST00000274542.2_Missense_Mutation_p.A625V|RNF145_ENST00000518802.1_Missense_Mutation_p.A627V|RNF145_ENST00000519865.1_Missense_Mutation_p.A597V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	597						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCAGCTCCAGCATGAGGCTG	0.532000													6	70					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420497	23420497	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23420497C>T	ENST00000302291.4	-	4	1059	c.258G>A	c.(256-258)gaG>gaA	p.E86E	LUZP1_ENST00000418342.1_Silent_p.E86E|LUZP1_ENST00000374623.3_Silent_p.E86E|LUZP1_ENST00000314174.5_Silent_p.E86E			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	86						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GACACAGATCCTCTGCTCTCT	0.498000													12	129					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4198969	4198969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:4198969G>A	ENST00000296358.4	-	5	1616	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	531					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAAGAAACGGGGAAGGCGGAC	0.512000													10	61					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543683	154543683	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:154543683G>A	ENST00000368476.3	+	5	648	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	128					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCATGTACGAGGTGTCCTTCT	0.547000													34	61					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695476	99695476	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99695476C>T	ENST00000303887.5	-	8	1611	c.966G>A	c.(964-966)gaG>gaA	p.E322E	MCM7_ENST00000354230.3_Silent_p.E146E|MCM7_ENST00000343023.6_Silent_p.E322E	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	322					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCCTCAGCTCCTCCCTGGTGA	0.502000													4	145					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31382837	31382837	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:31382837C>T	ENST00000355683.5	-	8	1230	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	STRN3_ENST00000366206.2_Intron|STRN3_ENST00000357479.5_Missense_Mutation_p.G423R	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	337					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GACTTGCCTCCTCCAGATGGA	0.378000													22	152					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56627130	56627130	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:56627130G>A	ENST00000394672.3	+	8	1138		c.e8+1		CCDC66_ENST00000326595.7_Splice_Site|CCDC66_ENST00000436465.2_Splice_Site	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66											breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATATTCAAAGGTAACTTATGA	0.279000													4	32					0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987191	7987191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:7987191C>T	ENST00000221573.6	+	4	695	c.644C>T	c.(643-645)tCt>tTt	p.S215F	SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	215					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TACTTGTCCTCTGTCTCCCGA	0.597000													11	91					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561634	84561634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:84561634G>A	ENST00000286744.5	+	13	1685	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W487*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	487	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.W487F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATGGAGTGGTCTCAGGTAA	0.408000													8	42					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525455	61525455	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61525455G>A	ENST00000266070.4	-	12	2989	c.2664C>T	c.(2662-2664)gaC>gaT	p.D888D	DIDO1_ENST00000395340.1_Silent_p.D888D|DIDO1_ENST00000395343.1_Silent_p.D888D|DIDO1_ENST00000395335.2_Silent_p.D888D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	888					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGCAGAGCTGTCATGCTTTG	0.502000													10	147					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742908	49742908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:49742908G>A	ENST00000549441.2	+	3	1457	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	DNAJC22_ENST00000395069.3_Missense_Mutation_p.V85M			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	85					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TGCTGCCCAGGTGATAGTTGG	0.557000													8	166					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970050	63970050	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:63970050G>A	ENST00000443617.2	-	37	7151	c.7064C>T	c.(7063-7065)aCt>aTt	p.T2355I	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2355					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATACCTGATAGTAATTTCTGC	0.453000													5	170					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155015286	155015286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:155015286C>T	ENST00000295542.1	+	9	1064	c.968C>T	c.(967-969)tCt>tTt	p.S323F	DCST1_ENST00000392480.1_Missense_Mutation_p.S323F|DCST1_ENST00000423025.2_Missense_Mutation_p.S298F|DCST1_ENST00000368419.2_Missense_Mutation_p.S323F	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	323						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTCAACCAGTCTATTCGTGGC	0.567000													5	60					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158041	38158041	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:38158041C>T	ENST00000308059.6	+	28	3975	c.3954C>T	c.(3952-3954)gaC>gaT	p.D1318D	DLEC1_ENST00000452631.2_Silent_p.D1321D|DLEC1_ENST00000346219.3_Silent_p.D1318D			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1318					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGCTGCGGGACCAAGCCGGGA	0.592000													6	91					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044850	33044850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:33044850G>A	ENST00000242209.4	+	10	1769	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.A587T|FKBP9_ENST00000538443.1_Missense_Mutation_p.A396T|FKBP9_ENST00000490776.2_Missense_Mutation_p.A302T	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	534	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGGCTTTGATGCTGAGCTGAT	0.493000													5	109					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853963	39853963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39853963G>A	ENST00000564288.1	+	58	16226	c.15449G>A	c.(15448-15450)aGa>aAa	p.R5150K	MACF1_ENST00000289893.4_Missense_Mutation_p.R3590K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3088K|MACF1_ENST00000361689.2_Missense_Mutation_p.R3088K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5187K|MACF1_ENST00000539005.1_Missense_Mutation_p.R3067K|MACF1_ENST00000372915.3_Missense_Mutation_p.R5155K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3088K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5155					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTATTGGCAGAGACACTGAT	0.502000													12	37					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995842	19995842	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:19995842G>A	ENST00000391403.2	-	1	2036	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	645						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAATCAGGCACCTTTAAA	0.403000													67	159					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766345	56766345	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:56766345G>A	ENST00000413728.2	-	9	1710	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	ARHGEF3_ENST00000497267.1_Silent_p.D354D|ARHGEF3_ENST00000496106.1_Silent_p.D389D|ARHGEF3_ENST00000296315.3_Silent_p.D383D|ARHGEF3_ENST00000495373.1_Silent_p.D383D|ARHGEF3_ENST00000338458.4_Silent_p.D415D	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	383	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CCAGCAGGAGGTCTTTCACGG	0.542000													8	89					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95897712	95897712	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:95897712C>T	ENST00000520509.1	-	8	927	c.675G>A	c.(673-675)agG>agA	p.R225R	CCNE2_ENST00000308108.4_Silent_p.R225R|CCNE2_ENST00000396133.3_Silent_p.R225R|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	225					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TGAGTTCCATCCTTAAGATAT	0.299000													45	89					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45696976	45696976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45696976C>T	ENST00000310806.4	-	9	2094	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	546					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATGTTTAATTCTGTAGCTCCT	0.348000													35	41					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45457038	45457038	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:45457038C>T	ENST00000321429.4	+	35	5002	c.4595C>T	c.(4594-4596)gCc>gTc	p.A1532V	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.A1532V|DUOX1_ENST00000561166.1_Missense_Mutation_p.A1178V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1532					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTGGAAAAGGCCTGTCAGCTC	0.567000													53	110					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105443820	105443820	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:105443820C>T	ENST00000258494.9	-	13	1692	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	518	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TGGTTCTCTTCCAGTAGGTCT	0.433000													4	54					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139820045	139820045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:139820045C>T	ENST00000303045.6	-	10	1906	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	487	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCAGCAACTCCCATTTCACC	0.443000										HNSCC(7;0.00092)			16	38					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44762550	44762550	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:44762550G>A	ENST00000296091.4	+	4	497	c.241G>A	c.(241-243)Gga>Aga	p.G81R	ZNF502_ENST00000436624.2_Missense_Mutation_p.G81R|ZNF502_ENST00000449836.1_Missense_Mutation_p.G81R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTTCCAGGAAGGAGGTTTTGG	0.393000													4	88					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22874800	22874800	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:22874800C>T	ENST00000251822.6	+	10	2539	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.P690S|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.P675S	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	668					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGTGGCCACCTGTGTGGTA	0.572000													34	54					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32424547	32424547	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:32424547G>A	ENST00000309951.6	+	10	1210	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ACO1_ENST00000379923.1_Splice_Site_p.V358I|ACO1_ENST00000541043.1_Splice_Site_p.V259I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGGTCAACAGGTTGTGGAATT	0.383000													22	41					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47603907	47603907	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47603907G>A	ENST00000263774.4	+	6	596	c.514G>A	c.(514-516)Gac>Aac	p.D172N	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	172					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CTAGATCTGGGACATGTTTGG	0.483000													87	176					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729929	42729929	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:42729929C>T	ENST00000301215.3	+	3	1599	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCGGCTGTCCCGGCACCGGC	0.682000													4	65					0	0	1	0	0
DUT	1854	broad.mit.edu	37	15	48624470	48624470	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:48624470C>T	ENST00000331200.3	+	2	379	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	DUT_ENST00000559416.1_Missense_Mutation_p.P11S|DUT_ENST00000455976.2_Missense_Mutation_p.P8S|DUT_ENST00000558813.1_5'UTR|DUT_ENST00000559540.1_Missense_Mutation_p.P8S|DUT_ENST00000559935.1_Missense_Mutation_p.P11S	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	96					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TGAAGAGACACCCGCCATTTC	0.716000								Modulation of nucleotide pools					18	31					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	978837	978837	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:978837G>A	ENST00000379370.2	+	8	1653	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	535	Kazal-like 5.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGACCCTGTGGTCAGTGGCG	0.706000													6	11					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26501844	26501844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:26501844G>A	ENST00000244513.6	+	2	172	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	36	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGGACCCCCGGAGCCCATCCT	0.627000													4	57					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3188139	3188139	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:3188139C>T	ENST00000251607.6	+	6	736	c.634C>T	c.(634-636)Cct>Tct	p.P212S	TRNT1_ENST00000280591.6_Missense_Mutation_p.P212S	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	212					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TGTAGACAAACCTGGTGACCA	0.368000													16	13					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144462972	144462972	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:144462972C>T	ENST00000360057.3	-	3	218		c.e3+1		TPK1_ENST00000378099.3_Splice_Site	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTAAGGTTACCTTTGTTCCA	0.323000													5	87					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383813	15383813	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:15383813G>A	ENST00000263377.2	-	2	319	c.98C>T	c.(97-99)gCc>gTc	p.A33V	BRD4_ENST00000371835.4_Missense_Mutation_p.A33V|BRD4_ENST00000360016.5_Missense_Mutation_p.A33V	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	33					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGGGGTTGGGCCTGGGCCTG	0.587000			T	C15orf55	lethal midline carcinoma of young people								18	103					0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107076665	107076665	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:107076665C>T	ENST00000539449.1	-	1	708	c.232G>A	c.(232-234)Gtt>Att	p.V78I	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.V78I			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	78						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GCAGCGTGAACTTTGACAATG	0.343000													20	57					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890939	23890939	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:23890939C>T	ENST00000532292.1	-	1	236	c.142G>A	c.(142-144)Gga>Aga	p.G48R		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCGGGGCTCCCTGAAAGGGC	0.701000													7	3					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57556226	57556226	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57556226C>T	ENST00000243077.3	+	14	2795	c.2329C>T	c.(2329-2331)Ccc>Tcc	p.P777S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	777					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCGCACCCCCCACTGTGAC	0.612000													39	71					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33296906	33296906	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:33296906G>A	ENST00000242067.6	+	6	1022	c.501G>A	c.(499-501)gaG>gaA	p.E167E	BBS9_ENST00000350941.3_Silent_p.E167E|BBS9_ENST00000396127.2_Silent_p.E167E|BBS9_ENST00000354265.4_Silent_p.E167E|BBS9_ENST00000355070.2_Silent_p.E167E|BBS9_ENST00000425508.2_Silent_p.E122E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	167					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTGAGCAGGAGAGCTATGCTT	0.413000									Bardet-Biedl syndrome				20	58					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33675524	33675524	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:33675524G>A	ENST00000532280.1	-	0	1973					NR_023917.1																						TATCTATAATGATCAGGTTCA	0.378000													31	55					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127510235	127510235	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:127510235G>A	ENST00000262461.2	+	20	2995	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E936K	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	936					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCTACAGAAGAATTATTGTC	0.294000													5	34					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522941	23522941	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:23522941G>A	ENST00000296682.3	+	8	1011	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	277	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGCCCTTATGAGGGCCGAAT	0.552000										HNSCC(3;0.000094)			9	38					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91304128	91304128	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91304128C>T	ENST00000355112.3	+	7	1643	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	BLM_ENST00000560509.1_Missense_Mutation_p.P509S	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	509					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGCTGAAACACCAAGACTAGG	0.373000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				5	107					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120316133	120316133	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:120316133C>T	ENST00000397843.2	+	16	1471	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	ARHGEF12_ENST00000356641.3_Silent_p.H416H|ARHGEF12_ENST00000532993.1_Silent_p.H332H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	435	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATTTTAGCACCTGAAAGTTT	0.373000			T	MLL	AML								24	64					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161542	220161542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220161542C>T	ENST00000295718.2	-	16	2479	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	PTPRN_ENST00000423636.2_Missense_Mutation_p.D657N|PTPRN_ENST00000409251.3_Missense_Mutation_p.D718N	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	747	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGGCATGGTCATCTGCACAG	0.617000													4	30					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51048241	51048241	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:51048241G>A	ENST00000008876.5	+	9	1518	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	MAPK8IP2_ENST00000399908.2_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000341339.4_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	0					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGAGCTGGGCAAGGGGCTG	0.642000													4	5					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480599	181480599	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:181480599C>T	ENST00000526775.1	+	3	630	c.465C>T	c.(463-465)taC>taT	p.Y155Y	CACNA1E_ENST00000357570.5_Silent_p.Y106Y|CACNA1E_ENST00000360108.3_Silent_p.Y155Y|CACNA1E_ENST00000358338.5_Silent_p.Y106Y|CACNA1E_ENST00000367573.2_Silent_p.Y155Y|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.Y155Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	155					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGCTCTTACCTCCGCAATG	0.483000													4	133					0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45103542	45103542	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:45103542C>T	ENST00000475551.1	+	3	972	c.212C>T	c.(211-213)cCa>cTa	p.P71L	CCM2_ENST00000381112.3_Missense_Mutation_p.P98L|CCM2_ENST00000258781.6_Missense_Mutation_p.P77L|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Missense_Mutation_p.P77L|CCM2_ENST00000474617.1_Missense_Mutation_p.P71L|CCM2_ENST00000541586.1_Missense_Mutation_p.P19L			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	77	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ACGTCCATACCAGGATACCTG	0.468000													26	82					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159476549	159476549	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:159476549G>A	ENST00000231238.5	+	6	680	c.570G>A	c.(568-570)agG>agA	p.R190R	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.R190R	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	190					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GCTATATCAGGGCAATATTGA	0.348000													4	49					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149547376	149547376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149547376G>A	ENST00000223210.4	+	5	1311	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	356	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCGGCAGAAGGAGCTGTACAG	0.557000													5	40					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550317	39550317	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39550317G>A	ENST00000251645.2	-	7	1254	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	401	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGGGGCACAGGGTGTGCAGGG	0.642000													24	40					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77818030	77818030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:77818030G>A	ENST00000407578.2	-	16	2704	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A775V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A775V|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTGCACAGGCCTTGCAACA	0.388000													8	44					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118106250	118106250	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118106250G>A	ENST00000278949.4	-	4	561	c.506C>T	c.(505-507)cCc>cTc	p.P169L	MPZL3_ENST00000527472.1_Missense_Mutation_p.P157L|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	169					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CACGGCTGAGGGCACAAAGAC	0.512000													6	110					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50171389	50171389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50171389G>A	ENST00000216267.8	-	8	3023	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L	BRD1_ENST00000404760.1_Missense_Mutation_p.P977L|BRD1_ENST00000342989.5_Missense_Mutation_p.P572L|BRD1_ENST00000457780.2_Missense_Mutation_p.P950S|BRD1_ENST00000542442.1_Missense_Mutation_p.P534L|BRD1_ENST00000404034.1_Missense_Mutation_p.P846L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	846					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGTCGTCGGGGTGTGGCCTT	0.711000													3	15					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21608206	21608206	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:21608206G>A	ENST00000538582.1	+	6	1169	c.416G>A	c.(415-417)aGa>aAa	p.R139K	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Missense_Mutation_p.R210K			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	210							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GCACATAAAAGAACCAGATAT	0.338000													4	64					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46476579	46476579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46476579C>T	ENST00000361297.2	+	10	1439	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	386					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTCTACGAACTTCAAGATAA	0.433000													22	39					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148117	34148117	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:34148117C>T	ENST00000346193.3	-	1	2330	c.2279G>A	c.(2278-2280)aGg>aAg	p.R760K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	760										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCATCCCCTCCTGGCAAACAG	0.418000													63	85					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254045	49254045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49254045G>A	ENST00000310160.3	-	4	1468	c.494C>T	c.(493-495)tCt>tTt	p.S165F		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	165					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGAAGCCAGAGAGCTTCAG	0.607000													15	184					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039866	62039866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:62039866C>T	ENST00000354587.3	-	16	1987	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	KCNQ2_ENST00000359689.1_Missense_Mutation_p.G596D|KCNQ2_ENST00000344462.4_Missense_Mutation_p.G565D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G604D|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G568D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G578D|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G596D			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	597					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GATCGCTGGGCCCCGCCCCAC	0.687000													4	9					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11291407	11291407	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11291407C>T	ENST00000361445.4	-	17	2675	c.2599G>A	c.(2599-2601)Gtg>Atg	p.V867M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	867					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTCAGTAGCACCTCAAGCAAA	0.527000													34	152					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447465	38447465	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:38447465C>T	ENST00000209728.4	+	3	805	c.334C>T	c.(334-336)Cta>Tta	p.L112L		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	112					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CAAAAGAGAACTAGCCAAAGT	0.393000													15	51					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36644938	36644938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:36644938G>A	ENST00000399881.3	+	2	347	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	104						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTGGGGCAAGTGTTGGTAAG	0.423000													4	18					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19416707	19416707	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19416707G>A	ENST00000247001.5	-	4	836	c.489C>T	c.(487-489)tcC>tcT	p.S163S	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.S163S	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	163					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTCGTCAGGGGACTGGAAGA	0.662000													4	90					0	0	1	0	0
EBP	10682	broad.mit.edu	37	X	48385639	48385639	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:48385639C>T	ENST00000495186.1	+	4	1258	c.435C>T	c.(433-435)ccC>ccT	p.P145P	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	145					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						GCCAGCATCCCCTCCGCTTCA	0.577000													11	80					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118631	31118631	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31118631G>A	ENST00000396268.3	-	6	1160	c.972C>T	c.(970-972)acC>acT	p.T324T	CCHCR1_ENST00000396263.2_Silent_p.T235T|CCHCR1_ENST00000376266.5_Silent_p.T235T|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Silent_p.T288T	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	235					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTCTTCCTGGGTCTTGCTAG	0.577000													9	201					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205036302	205036302	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:205036302C>T	ENST00000331830.4	+	16	2333	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	683	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTATGAGTTCCGGGTCATAG	0.582000													25	53					0	0	1	0	0
TANGO2	128989	broad.mit.edu	37	22	20050864	20050864	+	Silent	SNP	G	G	A	rs150834860		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:20050864G>A	ENST00000327374.4	+	8	787	c.609G>A	c.(607-609)caG>caA	p.Q203Q	TANGO2_ENST00000401833.1_Silent_p.Q244Q|AC006547.13_ENST00000596334.1_RNA|TANGO2_ENST00000420290.2_Silent_p.Q105Q|AC006547.13_ENST00000608610.1_RNA|TANGO2_ENST00000432883.1_Silent_p.Q141Q|AC006547.13_ENST00000600937.1_RNA|TANGO2_ENST00000401886.1_Silent_p.Q141Q|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609644.1_RNA|AC006547.13_ENST00000415503.1_RNA|AC006547.13_ENST00000600617.1_RNA|TANGO2_ENST00000456048.1_Silent_p.Q208Q|AC006547.13_ENST00000609191.1_RNA|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000398042.2_Silent_p.Q141Q|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000601746.1_RNA|TANGO2_ENST00000447208.2_Silent_p.Q203Q	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3			transport and golgi organization 2 homolog (Drosophila)																		CCTGCAGGCAGCTGCCAGACC	0.677000													8	50					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261222	16261222	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16261222G>A	ENST00000375759.3	+	11	8691	c.8487G>A	c.(8485-8487)cgG>cgA	p.R2829R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2829	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCACAGCGGATCAGCGCCA	0.592000													21	31					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2088767	2088767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:2088767G>A	ENST00000262113.4	+	33	4063	c.3922G>A	c.(3922-3924)Ggc>Agc	p.G1308S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G733S|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1308					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GATTTTCGATGGCAAAGACAA	0.413000													11	72					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75309473	75309473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:75309473G>A	ENST00000297784.5	+	7	619	c.79G>A	c.(79-81)Gag>Aag	p.E27K	TMC1_ENST00000396237.3_Missense_Mutation_p.E27K|TMC1_ENST00000340019.3_Missense_Mutation_p.E27K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	27	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGAGGAAGAGGAGGTGGAAGA	0.418000													5	20					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220083369	220083369	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220083369C>T	ENST00000265316.3	-	1	343	c.27G>A	c.(25-27)gaG>gaA	p.E9E	ABCB6_ENST00000439002.2_Silent_p.E9E	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	9					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTTCGGCCTCGCAGTAGT	0.692000													8	23					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332889	153332889	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:153332889G>A	ENST00000281708.4	-	2	1296	c.67C>T	c.(67-69)Cct>Tct	p.P23S	FBXW7_ENST00000604872.1_Missense_Mutation_p.P23S|FBXW7_ENST00000603841.1_Missense_Mutation_p.P23S|FBXW7_ENST00000603548.1_Missense_Mutation_p.P23S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	23					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTGAGGAAGGGTTACCTCTC	0.498000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								5	37					0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50231048	50231048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50231048C>T	ENST00000232461.3	+	4	515	c.401C>T	c.(400-402)gCc>gTc	p.A134V	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000433068.1_Missense_Mutation_p.A134V	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	134					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTATCCAGGCCTGTTTTGAG	0.682000													6	42					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397780	116397780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116397780G>A	ENST00000397752.3	+	8	2254	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	MET_ENST00000318493.6_Missense_Mutation_p.G685E|MET_ENST00000436117.2_Missense_Mutation_p.G685E	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	685	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTAAACAGTGGGAATTCTAGA	0.348000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				22	316					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70644088	70644088	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70644088G>A	ENST00000449580.1	+	32	4801	c.4750G>A	c.(4750-4752)Gga>Aga	p.G1584R	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Splice_Site_p.G1584R|TAF1_ENST00000423759.1_Splice_Site_p.G1605R|TAF1_ENST00000276072.3_Splice_Site_p.G1605R			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1584	Bromo 2.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAAGTATAATGGTGGGTATTT	0.348000													4	72					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162551080	162551080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:162551080G>A	ENST00000271469.3	+	5	967	c.665G>A	c.(664-666)gGg>gAg	p.G222E	UAP1_ENST00000367925.1_Missense_Mutation_p.G222E|UAP1_ENST00000367924.1_Missense_Mutation_p.G222E|UAP1_ENST00000367926.4_Missense_Mutation_p.G222E			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	222					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	p.G222V(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTCCAGATGGGAATGGTGGT	0.388000													9	143					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36590442	36590442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36590442C>T	ENST00000401500.2	+	22	2697	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	WDR62_ENST00000270301.7_Missense_Mutation_p.P888S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	888					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTACTTTACCCCCATGAAGCC	0.627000													12	61					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195153	201195153	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:201195153C>T	ENST00000335211.4	+	22	10818	c.10688C>T	c.(10687-10689)cCc>cTc	p.P3563L	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCATCCTCCCCGGCCACGAA	0.672000													3	34					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31372564	31372564	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:31372564G>A	ENST00000328111.2	+	4	526	c.205G>A	c.(205-207)Gac>Aac	p.D69N	DNMT3B_ENST00000348286.2_Splice_Site_p.D69N|DNMT3B_ENST00000353855.2_Splice_Site_p.D69N|DNMT3B_ENST00000443239.3_Splice_Site_p.D69N|DNMT3B_ENST00000375623.4_Splice_Site_p.D69N|DNMT3B_ENST00000201963.3_Splice_Site_p.D81N|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Splice_Site_p.D69N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	69	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTATAAAGGACTTGACAGG	0.517000													5	52					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38827064	38827064	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:38827064C>T	ENST00000420274.1	+	12	1275	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	347					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCTGCAAAGCCCCCTCTGTGG	0.612000													6	14					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319625	132319625	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:132319625G>A	ENST00000249887.2	+	2	480	c.384G>A	c.(382-384)caG>caA	p.Q128Q	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		CTGGAATGCAGTTTCTGGCTT	0.423000													5	133					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209285	140209285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140209285G>A	ENST00000529310.1	+	1	1723	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTGAGCGCGCGCGACGC	0.677000													61	148					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917565	4917565	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4917565C>T	ENST00000399583.3	-	2	393	c.206G>A	c.(205-207)gGg>gAg	p.G69E	RADIL_ENST00000536091.1_Missense_Mutation_p.G69E	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	69	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACACTGTCCCCAAACACCTT	0.672000													6	37					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342789	118342789	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118342789G>A	ENST00000534358.1	+	3	938	c.915G>A	c.(913-915)agG>agA	p.R305R	KMT2A_ENST00000389506.5_Silent_p.R305R|KMT2A_ENST00000354520.4_Silent_p.R305R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GGAGAGGAAGGCCTCCATCAA	0.458000													42	67					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870660	57870660	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57870660G>A	ENST00000393797.2	-	9	1362	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	ARHGAP9_ENST00000424809.2_Silent_p.D319D|ARHGAP9_ENST00000393791.3_Silent_p.D319D|ARHGAP9_ENST00000430041.2_Silent_p.D135D|ARHGAP9_ENST00000550288.1_Silent_p.D398D|ARHGAP9_ENST00000356411.2_Silent_p.D319D|ARHGAP9_ENST00000550454.1_Intron			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	319	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCACATGGGGGTCGTCCAGGA	0.582000													19	39					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91432858	91432858	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91432858G>A	ENST00000328850.3	+	7	1060	c.918G>A	c.(916-918)gtG>gtA	p.V306V	FES_ENST00000444422.2_Silent_p.V306V|FES_ENST00000448367.1_3'UTR|FES_ENST00000394300.3_Silent_p.V248V|FES_ENST00000450438.2_Silent_p.V248V|FES_ENST00000394302.1_Silent_p.V248V|FES_ENST00000414248.2_Silent_p.V248V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	306					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGGAGAGCGTGCAGCACACGT	0.627000													9	110					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30934137	30934137	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:30934137C>T	ENST00000399914.1	-	14	2640	c.2119G>A	c.(2119-2121)Gct>Act	p.A707T	GRIK1_ENST00000309434.7_Missense_Mutation_p.A724T|GRIK1_ENST00000535441.1_Missense_Mutation_p.A724T|GRIK1_ENST00000399913.1_Missense_Mutation_p.A722T|GRIK1_ENST00000327783.4_Missense_Mutation_p.A722T|GRIK1_ENST00000389124.2_Missense_Mutation_p.A722T|GRIK1_ENST00000399909.1_Missense_Mutation_p.A707T|GRIK1_ENST00000399907.1_Missense_Mutation_p.A722T|GRIK1_ENST00000389125.3_Missense_Mutation_p.A707T			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	722					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCATGAAAGCCCACATCTTC	0.498000													8	35					0	0	1	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18081048	18081048	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:18081048C>T	ENST00000253413.5	-	7	624	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.V118M|ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.V126M	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	148					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		GCCTTCTGCACTGCAGCCTGG	0.418000													17	39					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714654	138714654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138714654C>T	ENST00000389532.4	-	11	1917	c.1853G>A	c.(1852-1854)gGg>gAg	p.G618E	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G340E|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G629E|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	618						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTCGGTCTCCCTTCCCCCCG	0.537000													4	53					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600811	66600811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66600811C>T	ENST00000379500.2	+	1	462	c.395C>T	c.(394-396)tCc>tTc	p.S132F	CMTM1_ENST00000531885.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.S132F|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.S132F	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	11	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AAACGTTTCTCCTTCTCGCCC	0.557000													15	38					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40999940	40999940	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:40999940G>A	ENST00000324545.8	+	7	1319	c.686G>A	c.(685-687)gGc>gAc	p.G229D	USP9X_ENST00000378308.2_Missense_Mutation_p.G229D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AACAAATTTGGCACTTTAAAT	0.318000													12	53					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573272	38573272	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:38573272C>T	ENST00000222345.6	+	3	1576	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	356					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACGAGGCGGCCGCCAACAGG	0.711000													12	35					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25845731	25845731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:25845731C>T	ENST00000397060.4	-	12	1485	c.1376G>A	c.(1375-1377)gGg>gAg	p.G459E	SLC17A3_ENST00000361703.6_Missense_Mutation_p.G381E|SLC17A3_ENST00000360657.3_Missense_Mutation_p.G381E	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	381					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTCCTCCACCCAAACTCAGG	0.398000													16	47					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133951341	133951341	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:133951341C>T	ENST00000361069.4	+	21	3751	c.3618C>T	c.(3616-3618)gaC>gaT	p.D1206D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1206	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCAGCGGGACCTGGAGGACA	0.637000													6	5					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91483850	91483850	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:91483850G>A	ENST00000416354.1	+	14	1924	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	KIF20B_ENST00000371728.3_Missense_Mutation_p.A618T|KIF20B_ENST00000394289.2_Missense_Mutation_p.A618T|KIF20B_ENST00000260753.4_Missense_Mutation_p.A618T|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	618					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCAACGGGAAGCTGACTTTAA	0.254000													15	89					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139907969	139907969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139907969C>T	ENST00000297183.6	+	29	5562	c.5438C>T	c.(5437-5439)aCt>aTt	p.T1813I	ANKHD1_ENST00000360839.2_Missense_Mutation_p.T1813I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T1813I|ANKHD1_ENST00000544120.1_Missense_Mutation_p.T196I	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTCCAACTCTTGTAACT	0.418000													12	138					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696387	109696387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:109696387C>T	ENST00000465301.2	+	3	2788	c.2542C>T	c.(2542-2544)Cca>Tca	p.P848S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P848S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	848										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGTCCATGCCACTAACAAG	0.517000													76	166					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097877	220097877	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220097877C>T	ENST00000323348.5	+	6	809	c.635C>T	c.(634-636)gCt>gTt	p.A212V	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A2V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A212V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	212						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCTCATGGCTGCAGCTGGG	0.552000													14	179					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26661321	26661321	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:26661321C>T	ENST00000264866.4	+	8	861	c.583C>T	c.(583-585)Cct>Tct	p.P195S	TBC1D19_ENST00000511789.1_Missense_Mutation_p.P130S|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	195						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AAAAGACATCCCTGAATTGGT	0.294000													15	33					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055174	9055174	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9055174C>T	ENST00000383836.3	-	17	2392	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	SRGAP3_ENST00000360413.3_Silent_p.L631L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	655	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCAGATGGCCAGGTTGTAGG	0.542000			T	RAF1	pilocytic astrocytoma								3	33					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206822210	206822210	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206822210C>T	ENST00000367106.1	+	4	2080	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L	DYRK3_ENST00000367108.3_Missense_Mutation_p.P536L|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.P556L			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	556					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTAAGCTGCCTCCAGTTGTT	0.453000													4	66					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574195	98574195	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98574195G>A	ENST00000359863.4	+	54	8237	c.8028G>A	c.(8026-8028)gtG>gtA	p.V2676V	TRRAP_ENST00000355540.3_Silent_p.V2658V|TRRAP_ENST00000446306.3_Silent_p.V2658V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2676					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACTGCTTTGTGGAAGCCATGT	0.602000													21	58					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101756991	101756991	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:101756991C>T	ENST00000251127.6	-	24	2728	c.2647G>A	c.(2647-2649)Gga>Aga	p.G883R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	883						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGACCAATCCCAGCAAATCA	0.448000													12	42					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175003	207175003	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:207175003C>T	ENST00000374423.3	+	5	6137	c.5751C>T	c.(5749-5751)tgC>tgT	p.C1917C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1917							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAAACCATGCCATCGTCATC	0.478000													12	59					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107642012	107642012	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:107642012G>A	ENST00000393561.1	-	1	460	c.276C>T	c.(274-276)agC>agT	p.S92S	LAMB1_ENST00000393560.1_Silent_p.S68S|LAMB1_ENST00000222399.6_Silent_p.S68S			P07942	LAMB1_HUMAN	laminin, beta 1	68	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGCAAGTGGCTGACGATAC	0.652000													6	16					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93726473	93726473	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:93726473G>A	ENST00000265990.6	+	14	1917	c.1609G>A	c.(1609-1611)Gca>Aca	p.A537T	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	537					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGAAGAGCAGCATTGGAAAC	0.328000													18	82					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16475174	16475174	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493000													20	41					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35190669	35190669	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:35190669C>T	ENST00000381318.3	+	23	3114	c.2826C>T	c.(2824-2826)gtC>gtT	p.V942V	ITSN1_ENST00000399353.1_Silent_p.V900V|ITSN1_ENST00000399352.1_Silent_p.V937V|ITSN1_ENST00000399326.3_Silent_p.V937V|ITSN1_ENST00000437442.2_Silent_p.V937V|ITSN1_ENST00000399355.2_Silent_p.V942V|ITSN1_ENST00000399349.1_Silent_p.V937V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.V942V|ITSN1_ENST00000381285.4_Silent_p.V942V|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Silent_p.V937V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	942	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCATCACCGTCCTGGAACAGC	0.453000													4	154					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179587	154179587	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:154179587C>T	ENST00000336314.4	+	10	1494	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	567							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCGGCCATCCCCAGCACGGC	0.567000													3	22					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172230	78172230	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:78172230G>A	ENST00000369947.2	-	1	1260	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	297					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TTTCCAGCAGGGCGTCGGAGA	0.547000													8	200					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47103879	47103879	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:47103879G>A	ENST00000290341.3	+	4	671	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	IGF2BP1_ENST00000431824.2_Splice_Site_p.V113M|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	113	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTGTGAGCAAGGTAAGAGTGG	0.517000													3	56					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138694	126138694	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:126138694G>A	ENST00000299308.3	+	9	2683	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R404K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	892						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGACCTCAAGGGGGCTAACG	0.512000													24	90					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87514474	87514474	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87514474G>A	ENST00000265728.1	+	3	903		c.e3+1			NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCAGACACAGTAAGTCTCTT	0.408000													17	85					0	0	1	0	0
MXI1	4601	broad.mit.edu	37	10	111987946	111987946	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:111987946G>A	ENST00000332674.5	+	2	478		c.e2-1		MXI1_ENST00000239007.7_Splice_Site|MXI1_ENST00000393134.1_Splice_Site|MXI1_ENST00000369612.1_Splice_Site|MXI1_ENST00000361248.4_Splice_Site|MXI1_ENST00000485566.1_3'UTR	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCTTTCTTCAGAGTGTGAACA	0.488000													29	50					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48177964	48177964	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48177964G>A	ENST00000311303.3	-	2	477	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ABCC12_ENST00000448542.1_Silent_p.N44N|ABCC12_ENST00000416054.1_Silent_p.N44N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	44						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATCCACCGGGTTGGGTGCTA	0.557000													15	28					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3583061	3583061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:3583061G>A	ENST00000550383.1	-	11	1270	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	P2RX5_ENST00000435558.1_Missense_Mutation_p.S361F|P2RX5_ENST00000552050.1_Missense_Mutation_p.S301F|P2RX5_ENST00000345901.3_Missense_Mutation_p.S337F|P2RX5_ENST00000547178.1_Missense_Mutation_p.S360F|P2RX5_ENST00000225328.5_Missense_Mutation_p.S361F|P2RX5_ENST00000552276.1_Missense_Mutation_p.S360F|P2RX5_ENST00000551178.1_Missense_Mutation_p.S336F																							GGCCTCCTGGGAACTGTCTTC	0.647000													6	14					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121393330	121393330	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:121393330C>T	ENST00000260197.7	+	10	1569	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	480					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGCTCAGCGCCTCAGTCAGC	0.557000													17	155					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062168	208062168	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:208062168C>T	ENST00000356522.4	-	7	1152	c.831G>A	c.(829-831)gaG>gaA	p.E277E	CD34_ENST00000537704.1_Silent_p.E142E|CD34_ENST00000367036.3_Silent_p.E119E|CD34_ENST00000310833.7_Silent_p.E277E|CD34_ENST00000485761.1_5'UTR	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	277					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CAACATCTTGCTCAGTGAAAT	0.532000													61	156					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67087325	67087325	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:67087325G>A	ENST00000284425.2	-	26	3661	c.3487C>T	c.(3487-3489)Cct>Tct	p.P1163S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1163					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTATATGAAGGAACCAATACC	0.323000													7	34					0	0	1	0	0
MED28	80306	broad.mit.edu	37	4	17625374	17625374	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:17625374C>T	ENST00000237380.7	+	4	514	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						CTTGGCCTACCTGGAGCAGGC	0.587000													12	25					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269404	53269404	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53269404G>A	ENST00000338230.3	-	3	1872	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACCTCTGACTGAAGGTCTTGC	0.473000													17	276					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472251	92472251	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:92472251C>T	ENST00000267622.4	-	11	2442	c.2069G>A	c.(2068-2070)aGg>aAg	p.R690K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	690					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAACTGATGCCTCACATCTTC	0.333000			T	PDGFRB	AML								6	96					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032654	99032654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99032654C>T	ENST00000292478.4	-	2	462	c.212G>A	c.(211-213)aGc>aAc	p.S71N	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S120N|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.S120N	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTTGGAGTGGCTCGGGTCAGA	0.617000													4	95					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797675	148797675	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:148797675G>A	ENST00000355220.5	+	5	631	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E148K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	177						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGTCCTCAGGAAGAGTCCTT	0.567000													5	45					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681038	67681038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67681038G>A	ENST00000334583.6	+	9	959	c.631G>A	c.(631-633)Gct>Act	p.A211T	RLTPR_ENST00000545661.1_Missense_Mutation_p.A211T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	211										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTTGAGTGTGGCTGCCCTGTC	0.657000													8	54					0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18499488	18499488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18499488G>A	ENST00000252809.3	+	2	702	c.670G>A	c.(670-672)Ggc>Agc	p.G224S		NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	224					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GGAAGACCTGGGCTGGGCCGA	0.716000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325110	74325110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:74325110G>A	ENST00000355773.5	-	8	1307	c.1039C>T	c.(1039-1041)Caa>Taa	p.Q347*	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	347					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCAGCTTGACCAGACAGG	0.358000													6	49					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85384027	85384027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85384027C>T	ENST00000258888.5	+	5	2290	c.2123C>T	c.(2122-2124)cCa>cTa	p.P708L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	708					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTCAAGCTCCAGAATGCGGG	0.617000													16	39					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972243	28972243	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:28972243G>A	ENST00000359747.4	+	8	974	c.945G>A	c.(943-945)ggG>ggA	p.G315G	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.G315G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	315	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAATGATGGGAATTGGTTCG	0.348000													6	60					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141711055	141711055	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:141711055G>A	ENST00000522684.1	-	26	2663	c.2434C>T	c.(2434-2436)Cta>Tta	p.L812L	PTK2_ENST00000538769.1_Silent_p.L480L|PTK2_ENST00000430260.2_Silent_p.L122L|PTK2_ENST00000395218.2_Silent_p.L812L|PTK2_ENST00000517887.1_Silent_p.L856L|PTK2_ENST00000519465.1_Silent_p.L440L|PTK2_ENST00000521059.1_Silent_p.L812L|PTK2_ENST00000340930.3_Silent_p.L812L|PTK2_ENST00000535192.1_Silent_p.L766L|PTK2_ENST00000519419.1_Silent_p.L856L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	812	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTCGGATTAGACGCTCTTCC	0.448000													5	72					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970371	19970371	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:19970371C>T	ENST00000396085.1	+	10	2751	c.2390C>T	c.(2389-2391)gCc>gTc	p.A797V	NAV2_ENST00000396087.3_Missense_Mutation_p.A820V|NAV2_ENST00000360655.4_Missense_Mutation_p.A733V|NAV2_ENST00000540292.1_Missense_Mutation_p.A751V|NAV2_ENST00000527559.2_Missense_Mutation_p.A749V|NAV2_ENST00000349880.4_Missense_Mutation_p.A797V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	820						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCAGGAGACGCCCCCTCAATG	0.612000													24	6					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85549838	85549838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:85549838C>T	ENST00000409232.3	-	4	1413	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	TGOLN2_ENST00000398263.2_3'UTR|TGOLN2_ENST00000409015.1_3'UTR|TGOLN2_ENST00000282120.2_3'UTR|TGOLN2_ENST00000377386.3_3'UTR			O43493	TGON2_HUMAN	trans-golgi network protein 2	0						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TCATCTTTTTCCAGAGGAATA	0.408000													5	23					0	0	1	0	0
NRSN2	80023	broad.mit.edu	37	20	330377	330377	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:330377C>T	ENST00000382291.3	+	3	330	c.90C>T	c.(88-90)caC>caT	p.H30H	NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Silent_p.H30H|NRSN2_ENST00000608736.1_Silent_p.H30H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	30						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CCTACCTGCACCTCTTCTATG	0.662000													26	41					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465577	26465577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:26465577G>A	ENST00000429381.1	+	5	1089	c.877G>A	c.(877-879)Gct>Act	p.A293T	BTN2A1_ENST00000469185.1_Missense_Mutation_p.A293T|BTN2A1_ENST00000541522.1_Missense_Mutation_p.A232T|BTN2A1_ENST00000312541.5_Missense_Mutation_p.A293T			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	293					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AAGAGAAATTGCTCTAAAGGA	0.418000													38	81					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153297974	153297974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153297974G>A	ENST00000303391.6	-	3	310	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	MECP2_ENST00000407218.1_Missense_Mutation_p.L21F|MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.L33F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	21					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCCTTGAGGCCCTGGAGG	0.473000													8	114					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9811628	9811628	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:9811628C>T	ENST00000377298.4	-	5	1344	c.552G>A	c.(550-552)agG>agA	p.R184R	CLSTN1_ENST00000377288.3_Silent_p.R184R|CLSTN1_ENST00000361311.4_Silent_p.R174R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	184	Cadherin 2.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCTCCACCCTCAAAATGC	0.522000													14	35					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132047257	132047257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:132047257C>T	ENST00000414305.1	+	21	2198	c.1870C>T	c.(1870-1872)Ctc>Ttc	p.L624F	ENPP3_ENST00000358229.5_Missense_Mutation_p.L624F|ENPP3_ENST00000357639.3_Missense_Mutation_p.L624F			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	624	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGACCACTGTCTCCTTTACCA	0.418000													32	71					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982566	57982566	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:57982566C>T	ENST00000309433.6	+	1	350	c.350C>T	c.(349-351)tCt>tTt	p.S117F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATGTACTTTTCTATTGTGTTT	0.433000													5	195					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66766486	66766486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:66766486C>T	ENST00000374690.3	+	1	2022	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	AR_ENST00000504326.1_Missense_Mutation_p.P500S|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.P500S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	499	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTTCACCGCACCTGATGTGTG	0.677000									Androgen Insensitivity Syndrome				6	10					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180651626	180651626	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:180651626G>A	ENST00000315073.5	+	1	1337	c.627G>A	c.(625-627)cgG>cgA	p.R209R	TRIM41_ENST00000351937.5_Silent_p.R209R	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	209						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGATTCGGCAGATGCACC	0.612000													15	13					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318622	129318622	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129318622C>T	ENST00000257017.4	+	2	1036	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	208					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGAAATCCCTGCTGTATCG	0.507000													6	65					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003695	34003695	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34003695C>T	ENST00000382491.3	-	28	4315	c.4191G>A	c.(4189-4191)ctG>ctA	p.L1397L	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1483L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.L1444L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1444	3 X 3 AA repeats of N-P-F.|Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAGAGGCTGCAGAGAAGGGA	0.448000													4	82					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43427173	43427173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:43427173G>A	ENST00000039989.4	+	12	1603	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	TTC17_ENST00000299240.6_Missense_Mutation_p.G530E|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	530							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAAAACAAAGGACTCAGGCAA	0.458000													4	113					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805606	55805606	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55805606G>A	ENST00000309383.1	+	6	877	c.600G>A	c.(598-600)gaG>gaA	p.E200E	BRSK1_ENST00000585418.1_Silent_p.E200E|BRSK1_ENST00000590333.1_Silent_p.E216E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	200	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGTGTCCAGAGGTGATTAAGG	0.602000													9	63					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63670210	63670210	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:63670210C>T	ENST00000402010.2	+	13	1951	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L	MARK2_ENST00000377809.4_Silent_p.L458L|MARK2_ENST00000425897.2_Silent_p.L424L|MARK2_ENST00000408948.3_Silent_p.L424L|MARK2_ENST00000350490.7_Silent_p.L457L|MARK2_ENST00000315032.8_Silent_p.L458L|MARK2_ENST00000502399.3_Silent_p.L457L|MARK2_ENST00000509502.2_Silent_p.L424L|MARK2_ENST00000513765.2_Silent_p.L425L|MARK2_ENST00000361128.5_Silent_p.L458L|MARK2_ENST00000508192.1_Silent_p.L457L|MARK2_ENST00000377810.3_Silent_p.L424L|MARK2_ENST00000413835.2_Silent_p.L458L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	458					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCCAGCCCCCTGCCCGGTCT	0.642000													14	27					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68015275	68015275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:68015275G>A	ENST00000262210.5	+	7	985	c.954G>A	c.(952-954)atG>atA	p.M318I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M24I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	353						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTTAAGGATGCACAGGAACA	0.358000													16	26					0	0	1	0	0
NDUFA8	4702	broad.mit.edu	37	9	124910425	124910425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:124910425C>T	ENST00000537618.1	-	3	456	c.347G>A	c.(346-348)gGc>gAc	p.G116D	NDUFA8_ENST00000373768.3_Missense_Mutation_p.G116D			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	116					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	CCGCACCCAGCCCAGTTTGTC	0.502000													6	95					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36033228	36033228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36033228C>T	ENST00000222286.4	+	5	573	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	153					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CAGCAAAGAGCCCAAACAGAT	0.592000													15	31					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27950895	27950895	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:27950895G>A	ENST00000381271.2	+	3	1625	c.1314G>A	c.(1312-1314)tcG>tcA	p.S438S		NM_020782.1	NP_065833.1			kelch-like family member 42																		CGTCCAAATCGGGTCTTAACT	0.562000													9	74					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48122610	48122610	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:48122610C>T	ENST00000311303.3	-	24	3666	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1107						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GACAGGTCCCCACTTTGAGGG	0.478000													5	42					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36054119	36054119	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36054119C>T	ENST00000373235.3	+	4	959	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	251						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCCCGAGTGCCTCAACGCCTC	0.652000													24	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046466	9046466	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9046466C>T	ENST00000397910.4	-	5	35368	c.35165G>A	c.(35164-35166)aGt>aAt	p.S11722N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11724	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTAGGACTGGTGGCCAT	0.517000													5	138					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105543469	105543469	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:105543469C>T	ENST00000332180.5	+	25	2678	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	864					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CACATCAAATCCAGATTGATT	0.269000													10	191					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130582288	130582288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130582288G>A	ENST00000344849.3	-	9	1443	c.1163C>T	c.(1162-1164)aCc>aTc	p.T388I	ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000373203.4_Missense_Mutation_p.T388I			P17813	EGLN_HUMAN	endoglin	388	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GTCCCAGAAGGTCAGGCCCGT	0.597000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				11	27					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111586	75111586	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:75111586G>A	ENST00000309664.5	+	6	830	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	LMAN1L_ENST00000379709.3_Missense_Mutation_p.V231I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	231	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTCTTTGGGGTCTCAGCAGC	0.562000													31	101					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718274	103718274	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103718274C>T	ENST00000245312.3	-	1	922	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	109					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGAGGCAGTTCCTCCAGGGCA	0.507000													33	59					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60977861	60977861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:60977861G>A	ENST00000327720.5	+	2	1080	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	211					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GAGGGCGACGGCACGCCAGAG	0.667000													8	21					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851475	34851475	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:34851475G>A	ENST00000360581.1	+	4	606	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Splice_Site_p.E160K|NPSR1_ENST00000381539.3_Splice_Site_p.E160K|NPSR1_ENST00000531252.1_Splice_Site_p.E149K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	160						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTTCAAGGAGGTGAGCTGGC	0.448000													4	169					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152148	58152148	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58152148G>A	ENST00000544273.1	+	5	657	c.330G>A	c.(328-330)agG>agA	p.R110R	ZNF211_ENST00000254182.7_Silent_p.R89R|ZNF211_ENST00000420680.1_Silent_p.R102R|ZNF211_ENST00000240731.4_Silent_p.R111R|ZNF211_ENST00000347302.3_Silent_p.R98R|ZNF211_ENST00000541801.1_Silent_p.R89R|ZNF211_ENST00000391703.3_Silent_p.R37R|ZNF211_ENST00000299871.5_Silent_p.R163R			Q13398	ZN211_HUMAN	zinc finger protein 211	98			D -> N (in dbSNP:rs34897843).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGTTCAGGACTTCCAAAG	0.438000													5	56					0	0	1	0	0
HSD17B8	7923	broad.mit.edu	37	6	33172486	33172486	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33172486C>T	ENST00000374662.3	+	1	68	c.41C>T	c.(40-42)gCc>gTc	p.A14V	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	14					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	TCCGCACTGGCCTTGGTCACA	0.662000													3	24					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14499478	14499478	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:14499478C>T	ENST00000454876.2	+	6	949	c.620C>T	c.(619-621)tCc>tTc	p.S207F	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.S207F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	207					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGAGCTTGTCCCCTGGAATC	0.567000													9	103					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94058509	94058509	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:94058509A>G	ENST00000297268.6	+	51	4192	c.3721A>G	c.(3721-3723)Aat>Gat	p.N1241D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1241	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTTTGAATATAATGTAGAAGG	0.383000										HNSCC(75;0.22)			8	69					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165559685	165559685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:165559685G>A	ENST00000342193.4	-	9	1486	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.P490L|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.P462L|COBLL1_ENST00000409184.3_Intron	NM_014900.3	NP_055715.3	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	462										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CATCAGTTTGGGCGCAGTGCA	0.507000													49	99					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44501120	44501120	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44501120C>T	ENST00000270014.2	+	5	1239	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	ZNF155_ENST00000590615.1_Missense_Mutation_p.P371S|ZNF155_ENST00000407951.2_Missense_Mutation_p.P382S|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AGGAGAAAAACCATATAATTG	0.428000													41	98					0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29825897	29825897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29825897C>T	ENST00000567659.1	+	3	1321	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	PRRT2_ENST00000300797.6_3'UTR|PRRT2_ENST00000358758.7_Intron|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	97					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						tctcctttgtctctccttgtc	0.582000													3	19					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005885	57005885	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57005885G>A	ENST00000179765.5	-	7	1390	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	BAZ2A_ENST00000549884.1_Silent_p.V427V|BAZ2A_ENST00000551812.1_Silent_p.V429V|BAZ2A_ENST00000379441.3_Silent_p.V399V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	429					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTGTTGGCGAGACTGCTGGTG	0.527000													12	29					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3221911	3221911	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:3221911G>A	ENST00000355072.5	+	53	7390	c.7245G>A	c.(7243-7245)gtG>gtA	p.V2415V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2415					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTTCTCAGGTGTGGAAGCTTG	0.527000													23	106					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98951652	98951652	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:98951652C>T	ENST00000432884.2	+	8	941	c.480C>T	c.(478-480)gtC>gtT	p.V160V	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Silent_p.V207V			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	207					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGCTGGGTCCACGGGGTAA	0.587000													7	116					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220397612	220397612	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220397612G>A	ENST00000358078.4	+	5	1421	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	ASIC4_ENST00000347842.3_Intron|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	466						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CAGGCAATGAGACCATCTGCC	0.502000													18	27					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49244666	49244666	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:49244666G>A	ENST00000406846.2	-	4	455	c.336C>T	c.(334-336)aaC>aaT	p.N112N	FSHR_ENST00000346173.3_Silent_p.N112N|FSHR_ENST00000304421.4_Silent_p.N112N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	112				N -> T (in Ref. 1; AAA52477).	female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGCCTCAGGGTTGATGTAGA	0.383000									Gonadal Dysgenesis, 46 XX				19	26					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36483472	36483472	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36483472G>A	ENST00000265748.2	+	22	3299		c.e22+1		ANLN_ENST00000396068.2_Splice_Site	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein						cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GAAACGCAAGGTAATTTATAT	0.408000													5	22					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969653	235969653	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:235969653C>T	ENST00000389794.3	-	6	2957	c.2783G>A	c.(2782-2784)gGc>gAc	p.G928D	LYST_ENST00000536965.1_Missense_Mutation_p.G928D|LYST_ENST00000389793.2_Missense_Mutation_p.G928D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	928					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTCATAGCCAGAAGTATC	0.458000													9	45					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14489062	14489062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:14489062C>T	ENST00000344135.5	+	1	506	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	TRIO_ENST00000344204.4_Intron|TRIO_ENST00000537187.1_Intron			O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2480					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGCCGTCTCAAGCACAAGG	0.637000													4	10					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99858820	99858820	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:99858820G>A	ENST00000369239.5	-	5	502	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	PNISR_ENST00000438806.1_Missense_Mutation_p.P100S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	100	Pro-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GGGTGTGGGGGTTGCTGATGC	0.453000													24	53					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898033	30898033	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30898033G>A	ENST00000375712.3	+	2	620	c.453G>A	c.(451-453)gaG>gaA	p.E151E		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	151	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCAGGAGGAGATCCGAGATT	0.458000													5	79					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109850161	109850161	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:109850161C>T	ENST00000355283.1	-	5	1169	c.923G>A	c.(922-924)gGc>gAc	p.G308D	AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron					adenylate kinase 9																		ctgtaccctgccctgggcaac	0.458000													15	27					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066847	40066847	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:40066847C>T	ENST00000336649.4	+	29	4445	c.4445C>T	c.(4444-4446)aCc>aTc	p.T1482I	CACNA1I_ENST00000404898.1_Missense_Mutation_p.T1441I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.T1476I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T1476I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T1441I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.T1441I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1476					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TATTGTCACACCCGGCTGCTC	0.587000													39	111					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849585	52849585	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:52849585C>T	ENST00000371568.3	-	12	1998	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T	ORC1_ENST00000371566.1_Missense_Mutation_p.A594T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	594	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCATGGTTGGCTGTTGCTTTT	0.512000													4	67					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29197731	29197731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:29197731G>A	ENST00000240100.2	-	2	852	c.463C>T	c.(463-465)Cca>Tca	p.P155S	DUSP4_ENST00000240101.2_Missense_Mutation_p.P64S	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	155	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CAGAATTCTGGGTACTCGGAG	0.567000											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41707278	41707278	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:41707278G>A	ENST00000310054.4	+	6	1192		c.e6+1		CYP2S1_ENST00000542619.1_Splice_Site	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CATGTCCAAAGTAAGAGCCTT	0.522000													12	104					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610559	95610559	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:95610559G>A	ENST00000395505.2	-	3	494	c.402C>T	c.(400-402)tcC>tcT	p.S134S	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Silent_p.S134S|ZNF484_ENST00000375495.3_Silent_p.S170S|ZNF484_ENST00000395506.3_Silent_p.S172S	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTTTTCTTGAGGAAACCAGGT	0.353000													40	102					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042789	5042789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5042789G>A	ENST00000574788.1	+	22	3548	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	USP6_ENST00000304328.5_Missense_Mutation_p.G123R|USP6_ENST00000332776.4_Missense_Mutation_p.G440R|USP6_ENST00000250066.6_Missense_Mutation_p.G440R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	440					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGGCTCAGGGAGGACCTCA	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								23	43					0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764423	89764423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89764423C>T	ENST00000289805.5	-	3	662	c.594G>A	c.(592-594)tgG>tgA	p.W198*	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	198										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GCTGCTGCAGCCAGGCCACAC	0.706000													12	18					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8770872	8770872	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:8770872G>A	ENST00000378641.3	+	31	3862	c.3387G>A	c.(3385-3387)aaG>aaA	p.K1129K	PLCB1_ENST00000338037.6_Silent_p.K1129K|PLCB1_ENST00000378637.2_Silent_p.K1129K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1129					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAACACAAGGAAATACGTC	0.323000													10	20					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70366878	70366878	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:70366878G>A	ENST00000558939.1	-	6	1743	c.366C>T	c.(364-366)atC>atT	p.I122I	TLE3_ENST00000558379.1_Silent_p.I122I|TLE3_ENST00000559048.1_Silent_p.I128I|TLE3_ENST00000558201.1_Silent_p.I128I|TLE3_ENST00000557997.1_Silent_p.I122I|TLE3_ENST00000451782.2_Silent_p.I122I|TLE3_ENST00000559929.1_Silent_p.I122I|TLE3_ENST00000317509.8_Silent_p.I122I|TLE3_ENST00000442299.2_Silent_p.I122I|TLE3_ENST00000560589.1_Silent_p.I66I|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Silent_p.I122I|TLE3_ENST00000539550.1_Silent_p.I56I|TLE3_ENST00000560939.1_Silent_p.I128I|TLE3_ENST00000440567.3_Silent_p.I115I	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	122	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTACCCCGATGATGGCGTTCA	0.562000													8	21					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36143452	36143452	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:36143452G>A	ENST00000258840.6	-	24	3864	c.3474C>T	c.(3472-3474)aaC>aaT	p.N1158N	RALGAPA1_ENST00000389698.3_Silent_p.N1111N|RALGAPA1_ENST00000382366.3_Silent_p.N1124N|RALGAPA1_ENST00000307138.6_Silent_p.N1111N	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1111					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGGTCAGGTTATCAGTTG	0.323000													11	27					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130140321	130140321	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:130140321G>A	ENST00000223215.4	+	8	816	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	MEST_ENST00000416162.2_Missense_Mutation_p.V190M|MEST_ENST00000393187.1_Missense_Mutation_p.V190M|MEST_ENST00000378576.4_Missense_Mutation_p.V190M|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.V199M|MEST_ENST00000341441.5_Missense_Mutation_p.V190M	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	199					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGATGGAGGTGTGCTGTCACC	0.468000													9	46					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652286	115652286	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:115652286C>T	ENST00000374228.4	-	1	907	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	226						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						ACCTTTAGCACCAAAAGGCTG	0.612000													5	58					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107517542	107517542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:107517542G>A	ENST00000416476.2	+	15	1737	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	BBX_ENST00000402543.1_Silent_p.R792R|BBX_ENST00000406780.1_Silent_p.R812R|BBX_ENST00000415149.2_Silent_p.R812R|BBX_ENST00000325805.8_Silent_p.R842R			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGATGGCCGGGTATCACCAG	0.493000													16	22					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080590	178080590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:178080590G>A	ENST00000411529.2	+	3	293	c.242G>A	c.(241-243)cGt>cAt	p.R81H	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R103H|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R103H	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	103	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTTGATGGGCGTGTAGTGGAA	0.393000													13	92					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443887	150443887	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:150443887C>T	ENST00000401000.4	+	10	2450	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	RPRD2_ENST00000539519.1_Silent_p.F795F|RPRD2_ENST00000369068.4_Silent_p.F821F|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	821	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGGAAAAGTTCTACCCAGATA	0.473000													13	25					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117230420	117230420	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:117230420G>A	ENST00000003084.6	+	13	1825	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	CFTR_ENST00000454343.1_Missense_Mutation_p.D504N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	565	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.D565Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTATACAAAGATGCTGATTT	0.294000									Cystic Fibrosis				68	244					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47256426	47256426	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:47256426C>T	ENST00000319190.5	+	15	2073	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	TTC7A_ENST00000409245.1_Missense_Mutation_p.L535F|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.L215F|TTC7A_ENST00000394850.2_Missense_Mutation_p.L569F	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	569							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCCACGCCCTCCACCTGCT	0.597000													16	32					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45636812	45636812	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:45636812C>T	ENST00000273317.4	+	1	462	c.441C>T	c.(439-441)gaC>gaT	p.D147D	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.D147D	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	147					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCAGCCAGGACTGTGGTTCCA	0.622000													4	82					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618512	7618512	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:7618512G>A	ENST00000256861.6	-	10	1960	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	ITIH5_ENST00000397146.2_Missense_Mutation_p.P628S|ITIH5_ENST00000298441.6_Missense_Mutation_p.P414S|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.P410S|ITIH5_ENST00000397145.2_Missense_Mutation_p.P628S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	628					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCATGCGTGGGACCGGCCCC	0.687000													18	40					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63735866	63735866	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:63735866C>T	ENST00000316754.3	+	2	679	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	RHOJ_ENST00000555125.1_Silent_p.L73L|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	73					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTTGCTCGGACTGTATGACAC	0.463000													5	38					0	0	1	0	0
SMIM7	79086	broad.mit.edu	37	19	16770218	16770218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:16770218C>T	ENST00000487416.2	-	3	155	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SMIM7_ENST00000597711.1_Missense_Mutation_p.E37K|CTC-429P9.4_ENST00000600705.1_Missense_Mutation_p.E37K|SMIM7_ENST00000397349.2_5'UTR|SMIM7_ENST00000358726.6_Missense_Mutation_p.E37K|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_024104.3	NP_077009.2			small integral membrane protein 7																		GTGCTGGGCTCCCTGGACTCC	0.512000													10	18					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52325792	52325792	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:52325792C>T	ENST00000356297.4	-	15	1922	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D608N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	608					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCAACAAAGTCATCGCCAGCT	0.343000													10	37					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414438	26414438	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26414438C>T	ENST00000265944.5	+	19	2181	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	672	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAAGCTACCGATGTCAGG	0.433000													48	150					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231978509	231978509	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:231978509C>T	ENST00000258400.3	-	3	999	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	163					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TATTGATTGGCCTGGATTGGC	0.428000													10	207					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293689	71293689	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71293689C>T	ENST00000398530.1	-	1	232	c.195G>A	c.(193-195)ggG>ggA	p.G65G	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	65	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCACAGCCCCCTTTGGAGC	0.627000													7	209					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716177	8716177	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:8716177G>A	ENST00000337907.3	-	3	814	c.180C>T	c.(178-180)gaC>gaT	p.D60D	RERE_ENST00000400908.2_Silent_p.D60D|RERE_ENST00000400907.2_Silent_p.D60D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	60					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGTTGTCATTGTCCTCGTCTT	0.463000													26	182					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955132	107955132	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:107955132C>T	ENST00000317357.5	+	6	1743	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	362	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCAAATATCCCTCCTGTCTC	0.632000													28	55					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368852	18368852	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18368852C>T	ENST00000392413.4	-	4	3457	c.3242G>A	c.(3241-3243)gGt>gAt	p.G1081D	KIAA1683_ENST00000600328.3_Missense_Mutation_p.G894D|KIAA1683_ENST00000600359.3_Missense_Mutation_p.G848D	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGACGCAGCACCCCTGGCTGG	0.657000													7	101					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50720956	50720956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:50720956G>A	ENST00000440075.2	+	3	537	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	MYH14_ENST00000425460.1_Missense_Mutation_p.G164S|MYH14_ENST00000262269.8_Missense_Mutation_p.G164S|MYH14_ENST00000601313.1_Missense_Mutation_p.G164S|MYH14_ENST00000376970.2_Missense_Mutation_p.G164S|MYH14_ENST00000598205.1_Missense_Mutation_p.G164S|MYH14_ENST00000596571.1_Missense_Mutation_p.G164S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	164	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GATGTACCGGGGCAAGAAGCG	0.607000													4	105					0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44258238	44258238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:44258238G>A	ENST00000330884.4	-	1	145	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	SULT4A1_ENST00000249130.5_Missense_Mutation_p.P9S|SULT4A1_ENST00000540422.1_Missense_Mutation_p.P9S	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	9					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.P9A(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GGGGTGCTGGGGGTCTCGGCC	0.761000													6	41					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22291526	22291526	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:22291526G>A	ENST00000263026.5	+	17	2371	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	633					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGGTGCCAAGACTGGCTAGA	0.602000													14	27					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184001722	184001722	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:184001722G>A	ENST00000402825.3	+	8	1320	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	ECE2_ENST00000404464.3_Silent_p.E322E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.E293E|ECE2_ENST00000357474.5_Silent_p.E368E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	440	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCGCGACGAGGAGAAGATCT	0.637000													3	45					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585509	32585509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:32585509G>A	ENST00000341377.5	+	6	1062	c.545G>A	c.(544-546)tGt>tAt	p.C182Y	NRG1_ENST00000520407.1_Missense_Mutation_p.C363Y|NRG1_ENST00000287845.5_Missense_Mutation_p.C148Y|NRG1_ENST00000521670.1_Missense_Mutation_p.C182Y|NRG1_ENST00000519301.1_Missense_Mutation_p.C127Y|NRG1_ENST00000523079.1_Missense_Mutation_p.C182Y|NRG1_ENST00000539990.1_Missense_Mutation_p.C28Y|NRG1_ENST00000520502.2_Missense_Mutation_p.C237Y|NRG1_ENST00000356819.4_Missense_Mutation_p.C182Y|NRG1_ENST00000338921.4_Missense_Mutation_p.C182Y|NRG1_ENST00000405005.3_Missense_Mutation_p.C182Y|NRG1_ENST00000287842.3_Missense_Mutation_p.C182Y	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	182	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTGTAAAATGTGCGGAGAAG	0.438000													7	105					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13696439	13696439	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:13696439G>A	ENST00000357447.2	-	23	3395	c.3027C>T	c.(3025-3027)caC>caT	p.H1009H	FRMD4A_ENST00000378503.1_Silent_p.H1009H|FRMD4A_ENST00000358621.4_Silent_p.H994H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1009						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTAGGATGTGGTGGGGGCTGC	0.527000													10	69					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952304	141952304	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141952304C>T	ENST00000552471.1	-	4	883	c.564G>A	c.(562-564)agG>agA	p.R188R	PRSS58_ENST00000547058.2_Silent_p.R188R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	188	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TGCAGGGCTGCCTCCTTCCTG	0.408000													16	147					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61505556	61505556	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:61505556G>A	ENST00000398571.2	-	40	5355	c.5279C>T	c.(5278-5280)gCc>gTc	p.A1760V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1760					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTGCCAAGGCATCTAAGTC	0.269000													18	29					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123355445	123355445	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123355445G>A	ENST00000267202.2	-	2	656	c.275C>T	c.(274-276)aCc>aTc	p.T92I		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	92	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		ACCTAATTTGGTCTTCTTTAT	0.418000													32	58					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89382154	89382154	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:89382154G>A	ENST00000439576.2	+	3	705	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	ACAN_ENST00000559004.1_Missense_Mutation_p.A111T|ACAN_ENST00000561243.1_Missense_Mutation_p.A111T|ACAN_ENST00000558207.1_Missense_Mutation_p.A111T|ACAN_ENST00000352105.7_Missense_Mutation_p.A111T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	111					cell adhesion		hyaluronic acid binding|sugar binding	p.A111S(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAACTACCCGGCCATCCCCAG	0.617000													52	108					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114948173	114948173	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:114948173C>T	ENST00000358465.2	-	15	2710	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	TRIM33_ENST00000450349.2_Missense_Mutation_p.G508E|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.G876E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	876					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCCATCTCCTCCAATCCT	0.473000			T	RET	papillary thyroid								65	100					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19453118	19453118	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19453118G>A	ENST00000375267.2	-	64	9263	c.9260C>T	c.(9259-9261)gCa>gTa	p.A3087V	UBR4_ENST00000375226.2_Missense_Mutation_p.A3063V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3080V|UBR4_ENST00000375254.3_Missense_Mutation_p.A3087V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3087					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGTAGAGCTGCTGCTGTGGC	0.507000													19	40					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420592	23420592	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:23420592C>T	ENST00000302291.4	-	4	964	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E55K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E55K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E55K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	55						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGCTACCTTCTGCCTGAATC	0.517000													6	117					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088577	65088577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65088577G>A	ENST00000544348.1	+	2	814	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.V70M|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.V70M			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	70					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						GGGGACCATGGTGGAGGGGCC	0.642000													27	38					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111371910	111371910	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:111371910G>A	ENST00000375774.3	+	2	1362	c.900G>A	c.(898-900)gaG>gaA	p.E300E	ING1_ENST00000338450.7_Silent_p.E113E|ING1_ENST00000375775.3_Silent_p.E88E|ING1_ENST00000333219.7_Silent_p.E157E	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	300					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAACAACGAGAACCGTGAGA	0.652000													6	11					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812881	131812881	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:131812881C>T	ENST00000409185.1	-	5	546	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	FAM168B_ENST00000389915.3_Missense_Mutation_p.G147S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	147										endometrium(3)|lung(2)	5						GCCACCATGCCCATGGTGACC	0.627000													8	88					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63984661	63984661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:63984661G>A	ENST00000443617.2	-	31	5866	c.5779C>T	c.(5779-5781)Cca>Tca	p.P1927S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1927					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCCACTTTGGGGAAGCCATT	0.373000													6	57					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044994	20044994	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:20044994T>C	ENST00000343769.5	+	4	1258	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	410						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGTACTCCTCTACCCTTAGTT	0.418000													5	90					0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576121	115576121	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:115576121C>T	ENST00000256592.1	+	2	206	c.138C>T	c.(136-138)atC>atT	p.I46I	TSHB_ENST00000369517.1_Silent_p.I46I	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	46				I -> M (in Ref. 5; AAB30828).	anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ACACCACCATCTGTGCTGGAT	0.398000													5	104					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133045993	133045993	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:133045993C>T	ENST00000207771.3	-	6	1024	c.952G>A	c.(952-954)Gtt>Att	p.V318I	VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGCCAGTCAACAGCTGCAGGG	0.493000													22	44					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326447	85326447	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85326447C>T	ENST00000299927.3	+	1	563	c.541C>T	c.(541-543)Cca>Tca	p.P181S	ZNF592_ENST00000560079.2_Missense_Mutation_p.P181S			Q92610	ZN592_HUMAN	zinc finger protein 592	181					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTGGGAGGCCCAGTCCTGGA	0.522000													10	178					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419841	419841	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:419841C>T	ENST00000354200.4	-	7	1014	c.867G>A	c.(865-867)gaG>gaA	p.E289E	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	289					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TGATCAGTGTCTCATAGGGCA	0.562000													7	27					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77523275	77523275	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:77523275G>A	ENST00000255194.6	-	5	632	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	AP3B1_ENST00000519295.1_Missense_Mutation_p.L104F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	153					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTAATAGCAAGCATCATGATA	0.368000									Hermansky-Pudlak syndrome				7	61					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52843276	52843276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:52843276C>T	ENST00000252252.3	-	5	1101	c.1054G>A	c.(1054-1056)Gct>Act	p.A352T		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	352	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAGGACTCAGCCTCAGCCCTG	0.562000													59	124					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41928718	41928718	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:41928718G>A	ENST00000355209.4	-	3	583	c.240C>T	c.(238-240)ttC>ttT	p.F80F	POLR3H_ENST00000396504.2_Silent_p.F80F|POLR3H_ENST00000337566.5_Intron|POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000407461.1_Silent_p.F80F	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	80					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TCTCATCTAGGAATGGATGAA	0.547000											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	64					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000000	47000000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:47000000G>A	ENST00000374314.4	+	1	2075	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	GPRIN2_ENST00000374317.1_Missense_Mutation_p.E374K			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	374										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGCCTGGAGGAGGTGCCGTC	0.662000													21	71					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71836166	71836166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71836166G>A	ENST00000377245.4	+	5	914	c.706G>A	c.(706-708)Gac>Aac	p.D236N	TJP2_ENST00000535702.1_Missense_Mutation_p.D240N|TJP2_ENST00000453658.2_Missense_Mutation_p.D213N|TJP2_ENST00000348208.4_Missense_Mutation_p.D236N|TJP2_ENST00000539225.1_Missense_Mutation_p.D267N|TJP2_ENST00000265384.7_Missense_Mutation_p.D236N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	236					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCGGGACCGGGACCGTGACCG	0.711000													4	9					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10886570	10886570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10886570G>A	ENST00000314646.5	+	4	741	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	DNM2_ENST00000359692.6_Missense_Mutation_p.V193I|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_Missense_Mutation_p.V193I|DNM2_ENST00000355667.6_Missense_Mutation_p.V193I|DNM2_ENST00000389253.4_Missense_Mutation_p.V193I|DNM2_ENST00000408974.4_Missense_Mutation_p.V193I			P50570	DYN2_HUMAN	dynamin 2	193					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCCAAGGAAGTCGATCCCCA	0.607000			"""F, N, Splice, Mis, O"""		ETP ALL								6	37					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80402327	80402327	+	Missense_Mutation	SNP	G	G	A	rs150870793		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80402327G>A	ENST00000437807.2	-	7	756	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	C17orf62_ENST00000585064.1_Missense_Mutation_p.R147C|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147C|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133C|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133C|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147C|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23C|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147C|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147C|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147C|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147C	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCTTACCTGCGGTGGCCCATG	0.637000													20	24					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999740	55999740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55999740C>T	ENST00000313264.4	-	1	997	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATGTCATGGTCCGAAGCATAG	0.403000													12	124					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160471653	160471653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160471653G>A	ENST00000356956.1	+	19	2811	c.2663G>A	c.(2662-2664)aGg>aAg	p.R888K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	888					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TATACCACGAGGATCCATCTC	0.582000													6	27					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112336	112112336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:112112336G>A	ENST00000403825.3	+	10	1365	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	IFRD1_ENST00000535603.1_Nonsense_Mutation_p.W318*|IFRD1_ENST00000005558.4_Nonsense_Mutation_p.W368*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	368					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGATTGCTGGGTAAAAAAAC	0.393000													47	136					0	0	1	0	0
YY2	404281	broad.mit.edu	37	X	21874964	21874964	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:21874964C>T	ENST00000429584.2	+	1	860	c.362C>T	c.(361-363)gCc>gTc	p.A121V	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGACCCTGGCCTCTCTGTCG	0.582000													17	31					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285847	41285847	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:41285847G>A	ENST00000347132.5	+	7	1038	c.956G>A	c.(955-957)gGc>gAc	p.G319D	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G319D|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	319					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGCATCCTAGGCTCCGGCTTT	0.622000													4	11					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100711635	100711635	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100711635G>A	ENST00000360820.2	+	10	1764	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	443					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AACCCCTCCTGATGAGATAAA	0.338000													6	69					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72298978	72298978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:72298978C>T	ENST00000263563.6	+	14	1968	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGGCCTGGGCCCCCTGTGGCT	0.682000													3	14					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100547616	100547616	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100547616C>T	ENST00000370152.3	+	12	1460	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	442					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACTGCTGGCTCTGCTTGTTGC	0.428000													25	57					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146241	10146241	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:10146241G>A	ENST00000450660.2	-	2	434	c.218C>T	c.(217-219)cCc>cTc	p.P73L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.P73L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		TGTGTGGCAGGGTAACTTGGG	0.542000													17	56					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197585717	197585717	+	Silent	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:197585717T>C	ENST00000438796.2	+	15	1701	c.1657T>C	c.(1657-1659)Ttg>Ctg	p.L553L	LRCH3_ENST00000536618.1_Silent_p.L148L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Silent_p.L553L|LRCH3_ENST00000425562.2_Silent_p.L553L|LRCH3_ENST00000441090.2_Silent_p.L399L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	553						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GCTGTCAGGGTTGAATCAAGT	0.448000													3	75					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544976	23544976	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:23544976C>T	ENST00000300619.7	-	4	1010	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	ZNF91_ENST00000397082.2_Missense_Mutation_p.E237K|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCACACTTGTAG	0.388000													37	76					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56134260	56134260	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:56134260C>T	ENST00000508342.1	-	15	3266	c.2967G>A	c.(2965-2967)aaG>aaA	p.K989K	NEDD4_ENST00000435532.3_Silent_p.K570K|NEDD4_ENST00000338963.2_Silent_p.K917K|NEDD4_ENST00000506154.1_Silent_p.K973K	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	989	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACAGTCGAGCCTTCAGGAAGT	0.423000													58	102					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137323221	137323221	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:137323221C>T	ENST00000367748.1	-	6	1389	c.803G>A	c.(802-804)gGt>gAt	p.G268D	IL20RA_ENST00000541547.1_Missense_Mutation_p.G330D|IL20RA_ENST00000316649.5_Missense_Mutation_p.G379D	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	379						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GAGAGAAGTACCTTCCGTGTT	0.458000													14	77					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220427176	220427176	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220427176C>T	ENST00000404537.1	-	8	2957	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E	OBSL1_ENST00000289656.3_Silent_p.E554E|OBSL1_ENST00000373873.4_Silent_p.E967E|OBSL1_ENST00000265318.4_Silent_p.E967E|OBSL1_ENST00000603926.1_Silent_p.E967E|OBSL1_ENST00000373876.1_Silent_p.E967E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	967	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACACAAGTACTCGCCGGAGT	0.647000													30	41					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68378846	68378846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:68378846C>T	ENST00000545237.1	+	3	974	c.233C>T	c.(232-234)tCc>tTc	p.S78F	PIAS1_ENST00000249636.6_Missense_Mutation_p.S76F			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	76					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GCAGACTTGTCCATCCCCAAC	0.478000													10	124					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137693800	137693800	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:137693800G>A	ENST00000371817.3	+	38	3367	c.2953G>A	c.(2953-2955)Ggt>Agt	p.G985S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	985	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCTTCACAGGGTTTCCAAGG	0.652000													12	39					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620821	70620821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:70620821C>T	ENST00000310613.3	-	2	412	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAATGTCATCTGGTCTGCTA	0.418000													8	116					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62358434	62358434	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:62358434G>A	ENST00000283268.3	-	2	404	c.110C>T	c.(109-111)gCc>gTc	p.A37V	FEZF2_ENST00000475839.1_Missense_Mutation_p.A37V|FEZF2_ENST00000486811.1_Missense_Mutation_p.A37V	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	37					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGACGTCTTGGCCATGATGCG	0.692000													11	28					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71719778	71719778	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71719778G>A	ENST00000393695.3	-	20	5503	c.5172C>T	c.(5170-5172)agC>agT	p.S1724S	NUMA1_ENST00000351960.6_Silent_p.S588S|NUMA1_ENST00000358965.6_Silent_p.S1710S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1724					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGATCCAGGCTGTCAATAC	0.557000			T	RARA	APL								6	63					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45740846	45740846	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:45740846C>T	ENST00000320560.8	+	4	523	c.321C>T	c.(319-321)ggC>ggT	p.G107G	ANO6_ENST00000441606.2_Silent_p.G89G|ANO6_ENST00000435642.1_Silent_p.G107G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.G128G|ANO6_ENST00000425752.2_Silent_p.G107G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	107					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTGTCATGGCCTGCAGTTAG	0.448000													5	74					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													10	100					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144774976	144774976	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:144774976G>A	ENST00000367545.3	+	18	2255	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	752	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACCAAACTGGACAAATCCTT	0.363000													5	49					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060798	189060798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:189060798C>T	ENST00000332517.3	+	1	226	c.86C>T	c.(85-87)aCc>aTc	p.T29I		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	29					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCAGTGACCACCGAGTGTGGG	0.522000													18	127					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38572743	38572743	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:38572743C>T	ENST00000423485.1	-	3	357	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	67					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATGCCAACATCTTCATCGTAA	0.308000													3	9					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104116935	104116935	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:104116935C>T	ENST00000361355.4	+	7	1414	c.798C>T	c.(796-798)ggC>ggT	p.G266G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	266					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGAAATGGCCGGGTGACAG	0.368000													31	342					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16085904	16085904	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:16085904G>A	ENST00000281043.3	+	3	1377	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	360					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTCCGCTCAAGAGTGTCATCC	0.602000			A		neuroblastoma								11	875					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36299730	36299730	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36299730C>T	ENST00000373210.3	+	12	1764	c.1519C>T	c.(1519-1521)Cta>Tta	p.L507L		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TTATGTGGGCCTACAGCTAAT	0.438000													40	85					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31080013	31080013	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31080013C>T	ENST00000259870.3	-	2	126	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	41										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCAAGTTGGTCCCCAAGTTTT	0.567000													6	79					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501566	48501566	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48501566C>T	ENST00000412052.1	+	8	1296	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ATRIP_ENST00000346691.4_Silent_p.S371S|ATRIP_ENST00000357105.6_Silent_p.S244S|ATRIP_ENST00000320211.3_Silent_p.S371S	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	371					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTCATTTTCCCTCTCAGCCC	0.507000								Other conserved DNA damage response genes					15	74					0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468975	137468975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:137468975C>T	ENST00000296980.2	-	6	826	c.526G>A	c.(526-528)Gta>Ata	p.V176I	IL22RA2_ENST00000349184.4_Missense_Mutation_p.V144I|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	176	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGGAGAATTACCAACAAAGAG	0.289000													16	86					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45758825	45758825	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:45758825C>T	ENST00000357450.4	-	16	2501	c.2502G>A	c.(2500-2502)aaG>aaA	p.K834K	SMC1B_ENST00000404354.3_Silent_p.K834K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	834					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGTGTTGATCTTATTCAGTT	0.318000													5	70					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48033352	48033352	+	Missense_Mutation	SNP	C	C	T	rs63750949		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:48033352C>T	ENST00000234420.5	+	8	3808	c.3656C>T	c.(3655-3657)aCt>aTt	p.T1219I	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.T917I|MSH6_ENST00000540021.1_Missense_Mutation_p.T1089I	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6				T -> I (in CRC; uncertain pathogenicity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.T1219I(4)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAAGAGGTACTGCAACATTT	0.323000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	35					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82554106	82554106	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:82554106C>T	ENST00000268206.7	-	2	182	c.14G>A	c.(13-15)aGt>aAt	p.S5N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.S5N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	5					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTATCCAAACTGTTGAGCAC	0.343000													20	68					0	0	1	0	0
PTRH1	138428	broad.mit.edu	37	9	130476387	130476387	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130476387C>T	ENST00000419060.1	-	6	2093	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	PTRH1_ENST00000543175.1_Missense_Mutation_p.G213R|C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000423807.1_3'UTR			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	213					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						TGTCACGGCCCCAGTGAGGGC	0.617000													6	10					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552467	1552467	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:1552467G>A	ENST00000381605.4	-	3	714	c.650C>T	c.(649-651)aCc>aTc	p.T217I	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	217	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCCCCACGGGTCAGCACCAC	0.572000													8	97					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164499	12164499	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12164499G>A	ENST00000263932.2	+	4	554	c.332G>A	c.(331-333)gGc>gAc	p.G111D	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	111					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCGACCCGGCATGTTCTGT	0.582000													7	37					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100319290	100319290	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100319290G>A	ENST00000252723.2	+	2	304	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	41					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCCTGGAGAGGTACCTCTTGG	0.632000													10	49					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49020411	49020411	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49020411G>A	ENST00000356401.4	+	15	1748	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	ARIH2_ENST00000449376.1_Splice_Site_p.G470E|RP13-131K19.1_ENST00000429681.1_RNA|RP13-131K19.1_ENST00000415982.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	470					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TATGACAGAGGGGTAAGTGCC	0.512000													22	36					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118363924	118363924	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118363924C>T	ENST00000534358.1	+	16	5180	c.5157C>T	c.(5155-5157)gaC>gaT	p.D1719D	KMT2A_ENST00000389506.5_Silent_p.D1716D|KMT2A_ENST00000354520.4_Silent_p.D1678D	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GGAAGATGGACCAAGGGAATT	0.463000													27	42					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968888	21968888	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:21968888G>A	ENST00000268379.4	+	3	1031		c.e3+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		ATCCAGTCTGGTGAGTATCTT	0.383000													4	172					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275297	35275297	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:35275297C>T	ENST00000356321.4	-	3	683	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATCTTCTGACCTGTTTAACAT	0.373000													5	105					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273883	44273883	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44273883C>T	ENST00000262888.3	-	5	1313	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	306	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CTTTGGTATACTGGATATCCA	0.577000													25	64					0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156038168	156038168	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:156038168C>T	ENST00000361084.5	+	3	588	c.347C>T	c.(346-348)gCc>gTc	p.A116V	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	116					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CATGCTGAAGCCACGATCGTC	0.597000													18	102					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049711	2049711	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2049711C>T	ENST00000563630.1	-	9	1916	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G	ZNF598_ENST00000431526.1_Silent_p.G613G|ZNF598_ENST00000562103.1_Silent_p.G558G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	613						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCTGCAAAGCCCCTGGGGGAC	0.652000													14	20					0	0	1	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230730	36230730	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36230730C>T	ENST00000592537.1	-	4	702	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IGFLR1_ENST00000246532.1_Missense_Mutation_p.G201D|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	201						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GCAGACCAAGCCAGGATAGGG	0.607000													8	88					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796523	100796523	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100796523G>A	ENST00000323346.5	+	8	1366	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	351					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAATAAGTAAGGTAAACACAC	0.313000													14	36					0	0	1	0	0
SGTB	54557	broad.mit.edu	37	5	65016561	65016561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:65016561G>A	ENST00000381007.4	-	2	309	c.74C>T	c.(73-75)aCc>aTc	p.T25I		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	25							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTCATCCGAGGTGTAAGTGTC	0.358000													3	39					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350802	100350802	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100350802C>T	ENST00000542585.1	+	0	3222				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAAGTACCCCTATGACCAGT	0.572000													10	168					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141327521	141327521	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:141327521G>A	ENST00000286364.3	+	21	2242	c.2207G>A	c.(2206-2208)gGc>gAc	p.G736D	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.G737D			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	736					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AACACTCTCGGCTGCAAGCCA	0.398000													5	26					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64977088	64977088	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:64977088G>A	ENST00000399262.2	-	5	775	c.557C>T	c.(556-558)cCt>cTt	p.P186L	JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000402544.1_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P4L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	186					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAAGGAATAAGGACCTTAAAA	0.358000													22	40					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54563554	54563554	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:54563554C>T	ENST00000251636.5	-	22	3539	c.3391G>A	c.(3391-3393)Gcg>Acg	p.A1131T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1131							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTGAATCCGCCATGGCCAAA	0.403000													16	58					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016142	106016142	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:106016142G>A	ENST00000255499.2	+	2	734		c.e2-1		RNF128_ENST00000324342.3_Splice_Site	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase							endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTATTTTACAGGTGCAGTAGA	0.333000													21	47					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20051598	20051598	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:20051598G>A	ENST00000377309.2	+	0	358				C20orf26_ENST00000377306.1_Missense_Mutation_p.D82N|C20orf26_ENST00000245957.5_Missense_Mutation_p.D82N|C20orf26_ENST00000451767.2_Missense_Mutation_p.D82N|C20orf26_ENST00000389656.3_De_novo_Start_OutOfFrame			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26											NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCCAAGCAGGATGACTGGGT	0.517000													5	71					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116834	220116834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220116834G>A	ENST00000392088.2	-	2	632	c.77C>T	c.(76-78)aCc>aTc	p.T26I	TUBA4A_ENST00000248437.4_Missense_Mutation_p.T41I|TUBA4A_ENST00000498660.1_Intron	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	41					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCACCAATGGTCTTGTCACT	0.567000													7	42					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4384872	4384872	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:4384872G>A	ENST00000262366.3	+	5	1237	c.416G>A	c.(415-417)gGg>gAg	p.G139E	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.G139E			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	139	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCGGCTCCGGGGGGGCCCTG	0.657000													6	45					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11355156	11355156	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:11355156C>T	ENST00000315872.6	-	16	2194	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	ROCK2_ENST00000401753.1_Silent_p.R339R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	582	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCTGGGTTTTCCTTAACCGGG	0.408000													41	62					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258287	2258287	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2258287C>T	ENST00000569417.1	+	7	1004	c.650C>T	c.(649-651)cCt>cTt	p.P217L	MLST8_ENST00000561651.1_Intron|MLST8_ENST00000397124.1_Missense_Mutation_p.P217L|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000301724.10_Missense_Mutation_p.P217L|MLST8_ENST00000565250.1_Missense_Mutation_p.P217L|MLST8_ENST00000564088.1_Missense_Mutation_p.P217L|MLST8_ENST00000382450.4_Missense_Mutation_p.P216L	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	217					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						ACTAAGATCCCTGCCCACACG	0.657000													8	133					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558705	149558705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:149558705G>A	ENST00000223210.4	+	7	2701	c.2456G>A	c.(2455-2457)gGc>gAc	p.G819D	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GAGGCTGGGGGCCAGATTGGG	0.662000													7	18					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647935	130647935	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:130647935G>A	ENST00000539839.1	+	1	932	c.350G>A	c.(349-351)gGc>gAc	p.G117D	FZD10_ENST00000229030.4_Missense_Mutation_p.A150T	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGCATGGAGGCGCCCAACAA	0.667000													18	151					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58265332	58265332	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58265332C>T	ENST00000317178.5	+	3	1097	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATAAGGCCCACCTCACTGAAC	0.398000													5	105					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46669871	46669871	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46669871C>T	ENST00000381031.3	+	4	346	c.270C>T	c.(268-270)gaC>gaT	p.D90D	TTC38_ENST00000445282.2_Silent_p.D90D	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	90							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AAGAGCTGGACCTGGCTGTGA	0.567000													22	26					0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68748945	68748945	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:68748945C>T	ENST00000252338.4	+	2	1013	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	324						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ACCCGGTGCCCCTTTATACTC	0.597000													7	17					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110961101	110961101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:110961101C>T	ENST00000394780.3	+	9	1045	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ALG13_ENST00000251943.4_Missense_Mutation_p.H241Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	345	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AAGTAGTGGTCACTATGATTC	0.338000													6	16					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289609	18289609	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:18289609C>T	ENST00000377369.2	+	11	1887	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	SLC39A12_ENST00000377371.3_Silent_p.S537S|SLC39A12_ENST00000539911.1_Silent_p.S404S|SLC39A12_ENST00000377374.4_Silent_p.S501S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	538					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCATTAGCTTGTTAGCAA	0.438000													10	205					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6172279	6172279	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6172279C>T	ENST00000262450.3	-	35	5160	c.5061G>A	c.(5059-5061)gaG>gaA	p.E1687E	CHD5_ENST00000378021.1_Silent_p.E544E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1687					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGTCATCTTCCTCTTTGTCAC	0.512000													32	25					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19499781	19499781	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19499781C>T	ENST00000375267.2	-	24	3188	c.3185G>A	c.(3184-3186)gGa>gAa	p.G1062E	UBR4_ENST00000375226.2_Missense_Mutation_p.G1062E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1062E|UBR4_ENST00000375254.3_Missense_Mutation_p.G1062E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1062					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCCTTCATTCCCTGTTTGAT	0.393000													5	85					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45799216	45799216	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:45799216C>T	ENST00000450313.1	-	3	432	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	MUTYH_ENST00000528013.2_Missense_Mutation_p.E59K|MUTYH_ENST00000456914.2_Missense_Mutation_p.E45K|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.E56K|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.E46K|MUTYH_ENST00000372115.3_Missense_Mutation_p.E59K|MUTYH_ENST00000355498.2_Missense_Mutation_p.E45K|MUTYH_ENST00000372110.3_Missense_Mutation_p.E60K|MUTYH_ENST00000372098.3_Missense_Mutation_p.E70K|MUTYH_ENST00000448481.1_Missense_Mutation_p.E56K|MUTYH_ENST00000372104.1_Missense_Mutation_p.E45K|MUTYH_ENST00000531105.1_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	70					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCACCTCTTCCGGCTGCCTG	0.592000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				18	27					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100934575	100934575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:100934575G>A	ENST00000548884.1	+	9	1586	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	NR1H4_ENST00000551379.1_Missense_Mutation_p.E363K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E353K|NR1H4_ENST00000549996.1_Missense_Mutation_p.E302K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E359K	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	363	Agonist binding (By similarity).|Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGACCTATTGGAAGAAAGAAT	0.428000													29	64					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48680407	48680407	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:48680407G>A	ENST00000544264.1	-	30	8694	c.8414C>T	c.(8413-8415)cCt>cTt	p.P2805L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P2800L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2800					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCAGCCCAGGTGCTGGCCT	0.632000													26	79					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156894063	156894063	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:156894063G>A	ENST00000311946.7	+	3	586	c.470G>A	c.(469-471)gGa>gAa	p.G157E	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Intron|NIPAL4_ENST00000521390.1_3'UTR	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	157						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ACAGTGGATGGAGGCTTCGGC	0.498000													12	12					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47703664	47703664	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:47703664G>A	ENST00000397708.1	-	3	1562	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	MCM3AP_ENST00000291688.1_Silent_p.A436A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	436					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGCACTGGATGGCTGTGACTT	0.517000													44	97					0	0	1	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739638	34739638	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:34739638G>A	ENST00000562591.1	-	0	284					NR_034019.1																						ATTTAAATTTGTGTCTTCCAA	0.403000													4	10					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34646063	34646063	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:34646063C>T	ENST00000537011.1	+	5	1447	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	NUTM1_ENST00000333756.4_Silent_p.C327C|NUTM1_ENST00000438749.3_Silent_p.C345C	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CTGAGGTTTGCCAGCAGCCAG	0.542000													7	75					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46747480	46747480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:46747480G>A	ENST00000311907.5	+	7	687	c.631G>A	c.(631-633)Gag>Aag	p.E211K	F2_ENST00000530231.1_Missense_Mutation_p.E211K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	211					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCTCCATTGGAGCAGTGTGT	0.652000													34	52					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1993424	1993424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:1993424C>T	ENST00000382882.3	-	2	1379	c.262G>A	c.(262-264)Gag>Aag	p.E88K	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000411638.2_Missense_Mutation_p.E77K					negative elongation factor complex member A																		TGGATGATCTCCATTAGGGCG	0.612000													6	89					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984233	120984233	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120984233G>A	ENST00000325954.4	+	2	644	c.183G>A	c.(181-183)aaG>aaA	p.K61K	RNF10_ENST00000413266.2_Silent_p.K61K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	61	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGATCCAAGCGTTATAATC	0.428000													5	71					0	0	1	0	0
CORT	1325	broad.mit.edu	37	1	10510346	10510346	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:10510346C>T	ENST00000377049.3	+	1	571	c.66C>T	c.(64-66)ccC>ccT	p.P22P	APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000320498.4_Silent_p.P72P|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron	NM_001302.4	NP_001293.3			cortistatin											breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CTGCCCTGCCCCTGGAGGGTG	0.672000													17	32					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64608206	64608206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:64608206C>T	ENST00000498707.1	-	17	2788	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A788T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	816	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCTTTTGGCCATTGTGACA	0.408000													13	87					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149771146	149771146	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149771146G>A	ENST00000451292.1	+	21	3442	c.3334G>A	c.(3334-3336)Gct>Act	p.A1112T	TCOF1_ENST00000377797.3_Missense_Mutation_p.A1075T|TCOF1_ENST00000323668.7_Missense_Mutation_p.A998T|TCOF1_ENST00000513346.1_Intron|TCOF1_ENST00000445265.2_Missense_Mutation_p.A998T|TCOF1_ENST00000439160.2_Intron|TCOF1_ENST00000504761.2_Missense_Mutation_p.A1075T			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1075					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGACCCAGGCTGCCCTGAA	0.612000													4	63					0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66887369	66887369	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66887369G>A	ENST00000394069.3	+	7	1026	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	CA7_ENST00000338437.2_Missense_Mutation_p.G255S	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	255					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GCCACTGAAGGGCCGCGTGGT	0.592000													5	34					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192731	100192731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100192731G>A	ENST00000241071.6	+	7	1281	c.959G>A	c.(958-960)gGg>gAg	p.G320E	FBXO24_ENST00000360609.2_Intron|FBXO24_ENST00000468962.1_Missense_Mutation_p.G308E|FBXO24_ENST00000427939.2_Missense_Mutation_p.G358E|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Intron	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	320						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGACCAGGGGGGAGTGTAT	0.582000													30	66					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	871578	871578	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:871578C>T	ENST00000314167.4	-	16	1791	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	GAK_ENST00000511163.1_Missense_Mutation_p.D482N	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	561	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCACCATGTCACACATGTAC	0.602000													14	35					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885157	77885157	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:77885157G>A	ENST00000340067.3	-	2	722	c.444C>T	c.(442-444)atC>atT	p.I148I	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGGTGCTGAAGATGTTGGCGT	0.567000													33	38					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034575	150034575	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150034575C>T	ENST00000359623.4	+	3	1213	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	LRRC61_ENST00000323078.7_Missense_Mutation_p.P209S|LRRC61_ENST00000493307.1_Missense_Mutation_p.P209S	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	209										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGAGTCCTGGCCCAGCCGGAG	0.701000													9	20					0	0	1	0	0
RAB39B	116442	broad.mit.edu	37	X	154490511	154490511	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:154490511G>A	ENST00000369454.3	-	2	519	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	73					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCGAGTGATGGATCTAAAAC	0.433000													66	120					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761801	150761801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150761801G>A	ENST00000485713.1	+	4	1446	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	SLC4A2_ENST00000413384.2_Missense_Mutation_p.G136R|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G122R|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G127R|SLC4A2_ENST00000310317.5_Missense_Mutation_p.G54R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	136	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGGCTGAGGGGGCCCGGGC	0.697000													14	31					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	332241	332241	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:332241C>T	ENST00000280886.6	-	34	4178	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1364						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCCCAGCGGTCCTTTTGTTTC	0.478000													48	175					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209912	139209912	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:139209912C>T	ENST00000395297.1	-	8	840	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	224										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGAAGCTTCCCTAAGGGGTG	0.557000										HNSCC(54;0.14)			17	4					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67190560	67190560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67190560C>T	ENST00000345057.4	-	2	472	c.4G>A	c.(4-6)Gca>Aca	p.A2T	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	2					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TGCCCAGCTGCCATCTCACCT	0.612000													43	86					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206582	142206582	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:142206582C>T	ENST00000426318.2	-	0	323																											GGGGGAAATTCTCTGTCTTGG	0.527000													39	133					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080747	54080747	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:54080747G>A	ENST00000394705.2	-	2	1417	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	383						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCCTTCTCAGCCCTGCACTG	0.423000													37	76					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901186	16901186	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16901186C>T	ENST00000430580.2	-	21	3081	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	NBPF1_ENST00000287968.8_Splice_Site_p.E97K|NBPF1_ENST00000432949.1_Splice_Site_p.E190K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	732	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCGGCATCTCCCTGATGAGC	0.517000													14	723					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120450550	120450550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:120450550C>T	ENST00000222747.3	-	6	1042	c.435G>A	c.(433-435)tgG>tgA	p.W145*	TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.W145*	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	145					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CATGAGTAAGCCACCGATATC	0.388000													36	167					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954014	32954014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:32954014C>T	ENST00000399302.2	+	4	1158	c.823C>T	c.(823-825)Cct>Tct	p.P275S	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	275	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGGGTATCCTCCTTCTACTAC	0.443000													4	75					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086559	9086559	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9086559G>A	ENST00000397910.4	-	1	5459	c.5256C>T	c.(5254-5256)acC>acT	p.T1752T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1752	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGAGATGAGGTTAGAGGGA	0.507000													21	69					0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100809236	100809236	+	Silent	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100809236G>T	ENST00000372829.3	+	4	1694	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	441						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ATGATCTGGTGGTGAAAGTAA	0.343000													29	57					1.32181e-22	1.32988e-22	1	1	0
SFTPA2	729238	broad.mit.edu	37	10	81318700	81318700	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:81318700G>A	ENST00000372325.2	-	4	318	c.234C>T	c.(232-234)gcC>gcT	p.A78A	SFTPA2_ENST00000372327.5_Silent_p.A78A	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	78	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGACACCAGGGGCTCCAGGCA	0.622000									Pulmonary Fibrosis, Idiopathic				101	148					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196867124	196867124	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:196867124C>T	ENST00000346964.2	-	9	888	c.699G>A	c.(697-699)ggG>ggA	p.G233G	DLG1_ENST00000450955.1_Silent_p.G200G|DLG1_ENST00000392382.2_Silent_p.G200G|DLG1_ENST00000422288.1_Silent_p.G182G|DLG1_ENST00000448528.2_Silent_p.G233G|DLG1_ENST00000357674.4_Silent_p.G200G|DLG1_ENST00000443183.1_Silent_p.G117G|DLG1_ENST00000419354.1_Silent_p.G233G|DLG1_ENST00000452595.1_Silent_p.G117G|DLG1_ENST00000314062.3_Silent_p.G182G	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	233	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAAACCAAGCCCTGAATTTC	0.418000													7	113					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28421745	28421745	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:28421745C>T	ENST00000261609.7	-	63	9623	c.9515G>A	c.(9514-9516)gGt>gAt	p.G3172D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3172					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)		AAATACCAAACCTAGGTTTAA	0.488000													16	169					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69584881	69584881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:69584881C>T	ENST00000341516.5	-	4	657	c.510G>A	c.(508-510)tgG>tgA	p.W170*	DCAF5_ENST00000556847.1_Nonsense_Mutation_p.W88*|DCAF5_ENST00000557386.1_Nonsense_Mutation_p.W169*|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Nonsense_Mutation_p.W88*|DCAF5_ENST00000389997.6_Nonsense_Mutation_p.W170*	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	170						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CCCGAATGTCCCAAATGAGAA	0.453000													4	74					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174216593	174216593	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:174216593C>T	ENST00000265000.4	+	4	884	c.801C>T	c.(799-801)ggC>ggT	p.G267G	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Silent_p.G267G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	267	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGTGGAATGGCCTAGTGAAGG	0.338000													5	46					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30893342	30893342	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30893342C>T	ENST00000321897.5	+	27	3439	c.2807C>T	c.(2806-2808)cCt>cTt	p.P936L	VARS2_ENST00000416670.2_Missense_Mutation_p.P936L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.P966L|VARS2_ENST00000542001.1_Missense_Mutation_p.P796L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	936					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTCAGAGCCTGGGGACCAG	0.652000													16	30					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026114	43026114	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:43026114C>T	ENST00000161559.6	-	3	799	c.665G>A	c.(664-666)aGt>aAt	p.S222N	LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.S222N|CEACAM1_ENST00000599389.1_Missense_Mutation_p.S222N|CEACAM1_ENST00000403444.3_Missense_Mutation_p.S222N|CEACAM1_ENST00000358394.3_Missense_Mutation_p.S222N|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Missense_Mutation_p.S222N|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.S182N|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	222	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GCGGTTCGCACTCACTGGGTT	0.557000													64	123					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948337	119948337	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:119948337C>T	ENST00000307142.4	+	3	1009	c.813C>T	c.(811-813)atC>atT	p.I271I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.I271I|SYNPO2_ENST00000434046.2_Silent_p.I271I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	271						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGAGTGATCCAGGAAAGTG	0.522000													4	42					0	0	1	0	0
COX6B1	1340	broad.mit.edu	37	19	36145493	36145493	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:36145493G>A	ENST00000246554.3	+	3	319	c.127G>A	c.(127-129)Gca>Aca	p.A43T	COX6B1_ENST00000392201.1_Missense_Mutation_p.A43T|COX6B1_ENST00000592141.1_Missense_Mutation_p.A43T	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	43					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCAGAAGGCAATGACCGC	0.507000													5	75					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895277	36895277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:36895277G>A	ENST00000310758.4	-	22	2710	c.2063C>T	c.(2062-2064)aCc>aTc	p.T688I	ELMO1_ENST00000396040.2_Missense_Mutation_p.T208I|ELMO1_ENST00000396045.3_Missense_Mutation_p.T208I|ELMO1_ENST00000442504.1_Missense_Mutation_p.T688I|ELMO1_ENST00000341056.3_Missense_Mutation_p.T390I|ELMO1_ENST00000448602.1_Missense_Mutation_p.T688I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	688					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTGAGCAGGGTGTCCAGGTC	0.572000													33	83					0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612430	86612430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:86612430C>T	ENST00000320241.3	+	1	316	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	34					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GCCTTCGCCCCCGCGGCTGCT	0.697000													26	51					0	0	1	0	0
FAM92A1	137392	broad.mit.edu	37	8	94713525	94713525	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:94713525T>C	ENST00000518322.1	+	2	241	c.100T>C	c.(100-102)Ttc>Ctc	p.F34L	FAM92A1_ENST00000522324.1_Missense_Mutation_p.F34L|FAM92A1_ENST00000423990.2_Missense_Mutation_p.F34L	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	34										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTGCCAAATCTTCGCTGCCTA	0.468000													4	24					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30139916	30139916	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:30139916C>T	ENST00000376694.4	+	7	1657	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	396	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ACCAGCAGTGCTGGGCCAGCA	0.716000													6	10					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412609	63412609	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:63412609C>T	ENST00000330258.3	-	2	830	c.558G>A	c.(556-558)ggG>ggA	p.G186G	AMER1_ENST00000403336.1_Silent_p.G186G|AMER1_ENST00000374869.3_Silent_p.G186G	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTTGCTCAGCCCCAGTGACCT	0.577000													19	59					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549247	27549247	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:27549247C>T	ENST00000356183.4	-	4	625	c.610G>A	c.(610-612)Gtt>Att	p.V204I	GTF3C1_ENST00000561623.1_Splice_Site_p.V204I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	204						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCATCAACCCTGGAGGAA	0.448000													28	57					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73591673	73591673	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:73591673G>A	ENST00000394936.3	-	3	326	c.179C>T	c.(178-180)tCc>tTc	p.S60F	PSAP_ENST00000394934.1_Missense_Mutation_p.S60F			P07602	SAP_HUMAN	prosaposin	60	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGGGAAGGGATTTCTAAGA	0.493000													40	65					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61903990	61903990	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61903990C>T	ENST00000427159.2	-	3	755	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	37					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTGAAAGCGGCGATTGAGCTG	0.572000													15	37					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32548570	32548570	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:32548570C>T	ENST00000382097.3	-	3	423	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	117										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCATATTCTCCTCCACACCGC	0.448000													24	46					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13847386	13847386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:13847386C>T	ENST00000284951.5	-	15	1440	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G456R			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	456						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTCCTGTTCCTGTTGCATAC	0.403000													20	77					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564563	40564563	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:40564563C>T	ENST00000455577.2	+	6	1909	c.997C>T	c.(997-999)Ctc>Ttc	p.L333F	PAK6_ENST00000453867.1_Missense_Mutation_p.L333F|PAK6_ENST00000560346.1_Missense_Mutation_p.L333F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.L333F|PAK6_ENST00000441369.1_Missense_Mutation_p.L333F|PAK6_ENST00000542403.2_Missense_Mutation_p.L333F	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	333	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCAGAAGTCCCTCCGCACAGC	0.687000													30	49					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30309713	30309713	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:30309713C>T	ENST00000307677.4	-	2	719	c.309G>A	c.(307-309)cgG>cgA	p.R103R	BCL2L1_ENST00000376062.2_Silent_p.R103R|BCL2L1_ENST00000376055.4_Silent_p.R103R|BCL2L1_ENST00000420653.1_Silent_p.R103R	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	103					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CACTGAATGCCCGCCGGTACC	0.572000													4	81					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38851207	38851207	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:38851207C>T	ENST00000359357.3	+	53	7714	c.7460C>T	c.(7459-7461)tCt>tTt	p.S2487F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2704F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2451F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACTTTTCATCTGCCACAGAA	0.343000													48	68					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53815451	53815451	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:53815451G>A	ENST00000396328.1	-	19	3456	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S	WDR72_ENST00000559418.1_Missense_Mutation_p.P1083S|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.P1073S|WDR72_ENST00000557913.1_Missense_Mutation_p.P1070S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1073										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATCTGTCAGGCATGTCCTCC	0.453000													98	218					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481927	52481927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:52481927C>T	ENST00000216286.5	-	15	3094	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D	NID2_ENST00000541773.1_Missense_Mutation_p.G931D	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1032	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCGGGGGGTGCCACCGTAGTG	0.622000													8	47					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210650893	210650893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:210650893C>T	ENST00000439458.1	+	5	784	c.704C>T	c.(703-705)cCc>cTc	p.P235L	UNC80_ENST00000272845.6_Missense_Mutation_p.P235L|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	235						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTGGTGAAGCCCATCAGGAAC	0.502000													4	55					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23509667	23509667	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:23509667G>A	ENST00000258729.3	-	1	419	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	21	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CGTCCTTGAAGATACTTTCTA	0.527000													34	129					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15552421	15552421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15552421C>T	ENST00000357607.2	+	12	1294	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	BMX_ENST00000342014.6_Missense_Mutation_p.S369F|BMX_ENST00000348343.6_Missense_Mutation_p.S369F			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	369	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGTTTTGATTCCATTCCAAAG	0.338000													40	99					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50297551	50297551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50297551G>A	ENST00000330817.6	-	10	1675	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTGAAGGGGGGCAGTTGGGTC	0.677000													14	42					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50679137	50679137	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50679137G>A	ENST00000446044.1	+	6	955		c.e6-1		MAPKAPK3_ENST00000357955.2_Splice_Site	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3						activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTCTTTTACAGCATGGAAGGT	0.542000													17	20					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52256587	52256587	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:52256587C>T	ENST00000354831.7	-	30	3429	c.3240G>A	c.(3238-3240)gaG>gaA	p.E1080E	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.E1012E|NRD1_ENST00000539524.1_Silent_p.E948E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1011					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGTTGAATGCCTCTTCAGTGA	0.453000													4	41					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193239	42193239	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42193239C>T	ENST00000220325.4	-	6	1313	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	410					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTGCACCAGCTGCGTGGGCG	0.652000													13	24					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2380278	2380278	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2380278G>A	ENST00000202625.2	+	6	805	c.744G>A	c.(742-744)ccG>ccA	p.P248P	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.P248P	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	248					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCACCAGCCCGCTGCACTGGC	0.647000													15	39					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125603463	125603463	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:125603463C>T	ENST00000518547.1	-	4	695	c.222G>A	c.(220-222)gaG>gaA	p.E74E	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.E74E|MTSS1_ENST00000378017.3_Silent_p.E74E	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	74	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGATCCAATCTCCCTGGTCC	0.502000													13	59					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43945591	43945591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:43945591C>T	ENST00000343694.3	+	12	1618	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000372743.1_Nonsense_Mutation_p.Q515*	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	516					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTCTTCATCCAGACTTAGGC	0.706000													30	67					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35443616	35443616	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:35443616C>T	ENST00000237536.4	-	5	2570	c.2229G>A	c.(2227-2229)caG>caA	p.Q743Q	SOGA1_ENST00000456801.2_Silent_p.Q346Q|SOGA1_ENST00000357779.3_Silent_p.Q505Q|SOGA1_ENST00000279034.6_Silent_p.Q505Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	505										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGAAGGACTCCTGCTGTTCCT	0.582000													4	132					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24485545	24485545	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:24485545G>A	ENST00000327535.1	-	6	810	c.798C>T	c.(796-798)gcC>gcT	p.A266A	IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374421.3_Silent_p.A266A|IFNLR1_ENST00000374419.1_Silent_p.A183A	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GCTATACCAGGGCCCGTGGCA	0.547000													4	93					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169215096	169215096	+	Splice_Site	SNP	C	C	T	rs146271794		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:169215096C>T	ENST00000393743.3	-	7	1015	c.724G>A	c.(724-726)Gca>Aca	p.A242T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	242							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTCTTGTGTGCCTGTCAAAGA	0.353000													4	42					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23245041	23245041	+	Splice_Site	SNP	C	C	T	rs1138286		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:23245041C>T	ENST00000397532.3	-	6	1524		c.e6+1		SLC7A7_ENST00000285850.7_Splice_Site|SLC7A7_ENST00000554061.1_Splice_Site|SLC7A7_ENST00000554517.1_Splice_Site|SLC7A7_ENST00000397529.2_Splice_Site|SLC7A7_ENST00000555702.1_Splice_Site|SLC7A7_ENST00000397528.4_Splice_Site			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCCACTCTTACCTAGAAGCAG	0.438000													5	160					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759505	182759505	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:182759505C>T	ENST00000492597.1	-	10	1492	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	MCCC1_ENST00000265594.4_Missense_Mutation_p.E373K|MCCC1_ENST00000539926.1_Missense_Mutation_p.E238K			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	373	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GTTATTTCTTCCTGGCTCAAA	0.443000													25	70					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660749	227660749	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:227660749C>T	ENST00000305123.5	-	1	3726	c.2706G>A	c.(2704-2706)ggG>ggA	p.G902G		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGATCACTCCCAAATTCAA	0.592000													4	67					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769361	57769361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57769361C>T	ENST00000371030.2	+	1	3287	c.3287C>T	c.(3286-3288)cCc>cTc	p.P1096L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1096						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCTGAATCCCTGGGTACCC	0.632000													20	25					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409007	33409007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33409007G>A	ENST00000418600.2	+	12	2072	c.1971G>A	c.(1969-1971)tgG>tgA	p.W657*	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.W657*|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.W598*	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	657					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGCTGGAATGGGGTTCCATGC	0.473000													5	61					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100363075	100363075	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:100363075C>T	ENST00000542585.1	+	0	4516				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGACCGGTGCGTGGAGGCCT	0.612000													10	26					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439891	42439891	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42439891C>T	ENST00000397272.3	-	12	1226	c.1135G>A	c.(1135-1137)Gca>Aca	p.A379T	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A377T	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	377	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGCAACCCTGCCAGGCTGCCG	0.577000													29	68					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170885923	170885923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:170885923G>A	ENST00000272793.5	+	31	4571	c.4521G>A	c.(4519-4521)tgG>tgA	p.W1507*	UBR3_ENST00000418381.1_Nonsense_Mutation_p.W1507*|UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000392631.1_Nonsense_Mutation_p.W328*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1507					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATAATCCCTGGAGAAAGCTCA	0.323000													7	60					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096997	51096997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:51096997G>A	ENST00000395542.2	-	12	2226	c.2042C>T	c.(2041-2043)gCc>gTc	p.A681V	COBL_ENST00000265136.7_Missense_Mutation_p.A599V			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	599										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGGTGCAGGGCAGGTACTTC	0.562000													22	67					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108920035	108920035	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:108920035G>A	ENST00000228284.3	-	16	2445	c.2211C>T	c.(2209-2211)ccC>ccT	p.P737P	SART3_ENST00000431469.2_Silent_p.P701P	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	737	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TGCTGAAGATGGGTCGGATCT	0.557000									Porokeratosis				7	83					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	468806	468806	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:468806C>T	ENST00000280886.6	-	5	649	c.562G>A	c.(562-564)Gct>Act	p.A188T	DIP2C_ENST00000381496.3_Missense_Mutation_p.A81T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	188						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTGGGCAGCCCCGCTGCCC	0.617000													7	81					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361492	70361492	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:70361492G>A	ENST00000305107.6	-	1	134	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P30S|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	30					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATTCTGTGGGCCACACCAGC	0.463000													66	163					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117910814	117910814	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:117910814C>T	ENST00000356554.3	+	1	744	c.9C>T	c.(7-9)acC>acT	p.T3T	MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	3					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CGATGACTACCCCAGCCCTGC	0.468000													48	62					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063617	48063617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:48063617G>A	ENST00000316364.5	+	19	3296	c.2857G>A	c.(2857-2859)Gtc>Atc	p.V953I	SEMA6D_ENST00000536845.2_Missense_Mutation_p.V953I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V878I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V891I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V891I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V897I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V910I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V934I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V891I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	953					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACTCCTGGAGTCCCAATGAC	0.483000													17	98					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28855624	28855624	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:28855624C>T	ENST00000313511.3	-	7	987	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	280						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AAATGCCACGCTCTAGTGTAC	0.557000													21	95					0	0	1	0	0
C1D	10438	broad.mit.edu	37	2	68274452	68274452	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:68274452C>T	ENST00000355848.3	-	2	39		c.e2-1		C1D_ENST00000470189.2_Splice_Site|C1D_ENST00000407324.1_Splice_Site|C1D_ENST00000409302.1_Intron|C1D_ENST00000410067.3_Splice_Site			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor						apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TTATGGCTGACTGGAAAAAAT	0.333000													7	37					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699396	67699396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:67699396G>A	ENST00000545606.1	+	10	2385	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	650					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTTCTGGGAGAAGGGGTTCC	0.393000													38	101					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7076443	7076443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:7076443G>A	ENST00000414706.1	+	5	645	c.172G>A	c.(172-174)Gca>Aca	p.A58T	ZNF557_ENST00000252840.6_Missense_Mutation_p.A58T|ZNF557_ENST00000439035.2_Missense_Mutation_p.A51T	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGAGGAGTGGGCATTGCTGGA	0.552000													10	109					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70618115	70618115	+	Splice_Site	SNP	C	C	T	rs113562787		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:70618115C>T	ENST00000370952.3	-	12	1519		c.e12+1			NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40											breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCAATAAATACCTGAGATCTA	0.289000													3	30					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46835291	46835291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46835291C>T	ENST00000262738.3	-	3	4200	c.4201G>A	c.(4201-4203)Gat>Aat	p.D1401N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1401					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.D1401H(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCATCCACCTCACAG	0.647000													6	8					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91358035	91358035	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:91358035C>T	ENST00000261172.3	-	7	959	c.867G>A	c.(865-867)aaG>aaA	p.K289K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	289					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CCTCTAGTGCCTTACGAATAT	0.368000													3	51					0	0	1	0	0
OAZ1	4946	broad.mit.edu	37	19	2269685	2269685	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:2269685G>A	ENST00000583542.4	+	1	162	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	OAZ1_ENST00000322297.4_Missense_Mutation_p.A30T|OAZ1_ENST00000582888.4_Missense_Mutation_p.A30T|OAZ1_ENST00000602676.2_Missense_Mutation_p.A30T			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	CACCATCCACGCCAGCCGCAC	0.662000													8	11					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169468086	169468086	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:169468086C>T	ENST00000256935.8	+	37	3773	c.3693C>T	c.(3691-3693)caC>caT	p.H1231H	DOCK2_ENST00000520908.1_Silent_p.H723H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.H292H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1231	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGATCTTCACCTGGACTGTG	0.512000													3	33					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702643	27702643	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:27702643C>T	ENST00000438700.3	-	1	654	c.537G>A	c.(535-537)aaG>aaA	p.K179K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	179					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCCGCTCCGCCTTGGCCGGGC	0.627000													49	200					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82984704	82984704	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:82984704C>T	ENST00000529689.1	-	7	1014	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CCDC90B_ENST00000529611.1_Missense_Mutation_p.E93K|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E93K|CCDC90B_ENST00000529073.1_Silent_p.Q182Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E185K			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	194						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTTGTAAATTCTGTAGTTGTT	0.284000													5	46					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139235301	139235301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139235301C>T	ENST00000541337.1	-	4	1283	c.1054G>A	c.(1054-1056)Gtc>Atc	p.V352I	NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000545385.1_Missense_Mutation_p.V420I|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289409.4_Missense_Mutation_p.V412I|NRG2_ENST00000361474.1_Missense_Mutation_p.V418I|NRG2_ENST00000358522.3_Missense_Mutation_p.V420I|NRG2_ENST00000289422.7_Missense_Mutation_p.V426I|NRG2_ENST00000340391.3_Missense_Mutation_p.V215I	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	418	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCACGACCAGCAGAGCC	0.602000													23	70					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216300404	216300404	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:216300404G>A	ENST00000354785.4	-	1	491	c.122C>T	c.(121-123)tCc>tTc	p.S41F	FN1_ENST00000346544.3_Missense_Mutation_p.S41F|FN1_ENST00000446046.1_Missense_Mutation_p.S41F|FN1_ENST00000356005.4_Missense_Mutation_p.S41F|FN1_ENST00000432072.2_Missense_Mutation_p.S41F|FN1_ENST00000357867.4_Missense_Mutation_p.S41F|FN1_ENST00000359671.1_Missense_Mutation_p.S41F|FN1_ENST00000443816.1_Missense_Mutation_p.S41F|FN1_ENST00000345488.5_Missense_Mutation_p.S41F|FN1_ENST00000421182.1_Missense_Mutation_p.S41F|FN1_ENST00000357009.2_Missense_Mutation_p.S41F|FN1_ENST00000323926.6_Missense_Mutation_p.S41F|FN1_ENST00000336916.4_Missense_Mutation_p.S41F|FN1_ENST00000426059.1_Missense_Mutation_p.S41F			P02751	FINC_HUMAN	fibronectin 1	41					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCACCGGGGACTGGGGCTG	0.637000													4	32					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119158223	119158223	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:119158223C>T	ENST00000296499.5	+	10	2369	c.1966C>T	c.(1966-1968)Cca>Tca	p.P656S	NDST3_ENST00000433996.2_Missense_Mutation_p.P560L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	656	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCCCAGTCCCATCTAATGT	0.398000													17	58					0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8900196	8900196	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8900196G>A	ENST00000268261.4	+	4	345	c.279G>A	c.(277-279)gaG>gaA	p.E93E	PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Silent_p.E66E|PMM2_ENST00000539622.1_Silent_p.E10E	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	93			E -> A (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATCTGGGTGAGGCCCTAATCC	0.398000													35	55					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896233	52896233	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:52896233G>A	ENST00000354452.3	-	18	2335	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V	TCF4_ENST00000543082.1_Missense_Mutation_p.A529V|TCF4_ENST00000564403.2_Missense_Mutation_p.A581V|TCF4_ENST00000566286.1_Missense_Mutation_p.A568V|TCF4_ENST00000457482.3_Missense_Mutation_p.A415V|TCF4_ENST00000567880.1_Missense_Mutation_p.A511V|TCF4_ENST00000568673.1_Missense_Mutation_p.A551V|TCF4_ENST00000544241.2_Missense_Mutation_p.A504V|TCF4_ENST00000356073.4_Missense_Mutation_p.A571V|TCF4_ENST00000565018.2_Missense_Mutation_p.A575V|TCF4_ENST00000564228.1_Missense_Mutation_p.A500V|TCF4_ENST00000570177.2_Missense_Mutation_p.A441V|TCF4_ENST00000537856.3_Missense_Mutation_p.A441V|TCF4_ENST00000561992.1_Missense_Mutation_p.A441V|TCF4_ENST00000564999.1_Missense_Mutation_p.A571V|TCF4_ENST00000568740.1_Missense_Mutation_p.A546V|TCF4_ENST00000398339.1_Missense_Mutation_p.A677V|TCF4_ENST00000566279.1_Missense_Mutation_p.A515V|TCF4_ENST00000570287.2_Missense_Mutation_p.A411V|TCF4_ENST00000540999.1_Missense_Mutation_p.A547V|TCF4_ENST00000561831.3_Missense_Mutation_p.A411V|TCF4_ENST00000537578.1_Missense_Mutation_p.A551V	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	571					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACGCTCTCGGGCATTGTTGGC	0.567000													55	40					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291178	62291178	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62291178C>T	ENST00000378024.4	-	5	10985	c.10711G>A	c.(10711-10713)Gat>Aat	p.D3571N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3571					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAGATCCCCTTCAAGT	0.468000													17	266					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44139612	44139612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:44139612C>A	ENST00000260665.7	-	30	3291	c.3234G>T	c.(3232-3234)atG>atT	p.M1078I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1078					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATCTTCTGACATCAGTAATT	0.323000													11	50					1.58986e-06	1.59519e-06	1	1	0
CWC25	54883	broad.mit.edu	37	17	36963098	36963098	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36963098C>T	ENST00000225428.5	-	7	1119	c.822G>A	c.(820-822)aaG>aaA	p.K274K	CWC25_ENST00000536127.1_Silent_p.K211K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCCTGGTGCTCTTCTTGCTGG	0.582000													20	31					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818256	151818256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:151818256C>T	ENST00000370306.2	+	6	682	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	221						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGAACGCCATCCACATG	0.463000													12	99					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514272	70514272	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70514272G>A	ENST00000535149.1	+	3	920	c.277G>A	c.(277-279)Gat>Aat	p.D93N	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.D182N|NONO_ENST00000276079.8_Missense_Mutation_p.D182N|NONO_ENST00000373856.3_Missense_Mutation_p.D182N	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	182	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTCATTGTGGATGATCGAGG	0.512000			T	TFE3	papillary renal cancer								12	49					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24828136	24828136	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:24828136G>A	ENST00000395799.3	+	20	4960		c.e20-1		TNRC6A_ENST00000315183.7_Splice_Site|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Splice_Site	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A						negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCGTTTCCAGAATTTCGTCC	0.348000													6	105					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20849755	20849755	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:20849755C>T	ENST00000262715.5	-	31	4555	c.4515G>A	c.(4513-4515)ggG>ggA	p.G1505G	TEP1_ENST00000556935.1_Silent_p.G1397G|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1505					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCCTCTTCCCATAGCAAC	0.632000													26	81					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374517	140374517	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:140374517C>T	ENST00000072869.4	+	2	1218	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	ADCK2_ENST00000476491.1_Missense_Mutation_p.P347L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	347	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTAGCTTGCCTGAGATTGTG	0.522000													4	56					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	430171	430171	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:430171C>T	ENST00000399788.2	-	18	2893	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.R844Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	844					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTTACTTGCCGAGCTTGGCT	0.438000			T	NUP98	AML								39	108					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39898411	39898411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39898411C>T	ENST00000597629.1	+	2	145	c.71C>T	c.(70-72)cCc>cTc	p.P24L	ZFP36_ENST00000248673.3_Missense_Mutation_p.P18L|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	18					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTGACGTGCCCGTGCCATCC	0.672000													20	145					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427406	76427406	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:76427406C>T	ENST00000357063.3	+	29	5959	c.4699C>T	c.(4699-4701)Ccc>Tcc	p.P1567S	LMO7_ENST00000526202.1_Missense_Mutation_p.P1159S|LMO7_ENST00000321797.8_Missense_Mutation_p.P1282S|LMO7_ENST00000465261.2_Missense_Mutation_p.P1282S|LMO7_ENST00000341547.4_Missense_Mutation_p.P1233S|LMO7_ENST00000377534.3_Missense_Mutation_p.P1567S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1567						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTCCAGCGTGCCCCCACCTTC	0.592000													19	24					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394416	138394416	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:138394416C>T	ENST00000310018.2	-	21	2664	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	ATP6V0A4_ENST00000393054.1_Silent_p.L794L|ATP6V0A4_ENST00000353492.4_Silent_p.L794L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	794					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCCATGATCAGAAGGATGG	0.547000													8	273					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74350824	74350824	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:74350824G>A	ENST00000263665.6	-	14	1946	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	640	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAACCCACGGAGAAAGGTGT	0.453000													14	71					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155262	12155262	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12155262C>T	ENST00000602107.1	-	5	1094	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Silent_p.K318K			C9JN71	ZN878_HUMAN	zinc finger protein 878	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAATAAATCCCTTACCACATA	0.393000													17	112					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704614	143704614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:143704614G>A	ENST00000315691.3	+	2	1422	c.887G>A	c.(886-888)gGt>gAt	p.G296D	C3orf58_ENST00000441925.2_Missense_Mutation_p.G58D|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.G87D	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	296						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGCAGTTGGTCCTAGAGAT	0.353000													44	29					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565339	18565339	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:18565339G>A	ENST00000545289.1	-	5	1730	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CATCTAAAGGGTTTCTCTCCG	0.388000													9	62					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101908937	101908937	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:101908937C>T	ENST00000537097.1	+	6	909	c.96C>T	c.(94-96)gtC>gtT	p.V32V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.V32V|GPRASP1_ENST00000361600.5_Silent_p.V32V|GPRASP1_ENST00000415986.1_Silent_p.V32V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	32						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAATGATGTCCCTCTGGTGG	0.547000													9	178					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49138527	49138527	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:49138527G>A	ENST00000055335.6	+	3	1159		c.e3+1		PPP1R3F_ENST00000438316.1_Splice_Site|PPP1R3F_ENST00000495799.1_Splice_Site|PPP1R3F_ENST00000376188.1_Splice_Site|PPP1R3F_ENST00000466508.1_Splice_Site	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F							integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GACACTTCAGGTAAGTGGGTC	0.592000													3	18					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52085093	52085093	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52085093C>T	ENST00000262259.2	+	4	611	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	ZNF175_ENST00000436511.2_Missense_Mutation_p.P85S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	85	KRAB.				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGAAAAGGAGCCGCGTGTGGA	0.453000													4	36					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2832405	2832405	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:2832405C>T	ENST00000317243.5	+	4	556	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	ZNF554_ENST00000591265.1_Missense_Mutation_p.L120F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L120fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTATTTACTTTTTCAACC	0.478000													42	73					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87636326	87636326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:87636326C>T	ENST00000376214.1	+	21	3429	c.2491C>T	c.(2491-2493)Ccg>Tcg	p.P831S	NTRK2_ENST00000277120.3_Missense_Mutation_p.P831S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P815S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P815S	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	815					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CAAGGCATCTCCGGTCTACCT	0.552000										TSP Lung(25;0.17)			7	54					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19454132	19454132	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19454132C>T	ENST00000375267.2	-	63	9216	c.9213G>A	c.(9211-9213)aaG>aaA	p.K3071K	UBR4_ENST00000375226.2_Silent_p.K3047K|UBR4_ENST00000375217.2_Silent_p.K3064K|UBR4_ENST00000375254.3_Silent_p.K3071K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3071					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATATGGAAGACTTGGATCCAG	0.498000													16	141					0	0	1	0	0
AS3MT	57412	broad.mit.edu	37	10	104638677	104638677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104638677C>T	ENST00000369880.3	+	9	891	c.814C>T	c.(814-816)Caa>Taa	p.Q272*	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	272					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CAAGAGATGCCAAGTTATTTA	0.348000													11	94					0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512171	125512171	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:125512171C>T	ENST00000373684.1	+	1	153	c.153C>T	c.(151-153)ctC>ctT	p.L51L	OR1L6_ENST00000304720.2_Silent_p.L15L			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCTTCATCCTCCTGGGCCTCT	0.537000													56	107					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748253	36748253	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:36748253C>A	ENST00000354618.5	+	3	313	c.89C>A	c.(88-90)tCt>tAt	p.S30Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.S30Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	30	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTTCGAAGTCTCGGTCCCGA	0.463000			T	USP6	aneurysmal bone cysts								32	40					1.06801e-11	1.07257e-11	1	1	0
DDX24	57062	broad.mit.edu	37	14	94517805	94517805	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:94517805C>T	ENST00000330836.5	-	9	2443	c.2312G>A	c.(2311-2313)gGa>gAa	p.G771E	DDX24_ENST00000555054.1_Missense_Mutation_p.G728E|DDX24_ENST00000544005.1_Missense_Mutation_p.G521E|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	771					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GTCAGCTTTTCCTCCTTGAAA	0.428000											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	97					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31380526	31380526	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:31380526G>A	ENST00000328111.2	+	9	1337	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	DNMT3B_ENST00000348286.2_Missense_Mutation_p.G339D|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G339D|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G297D|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G351D|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G263D|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G339D	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	339					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCACGGGGGCTTCAAGCCC	0.622000													21	38					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16955887	16955887	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:16955887C>T	ENST00000377833.4	-	48	7521	c.7456G>A	c.(7456-7458)Gag>Aag	p.E2486K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2486	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCTTCCCTCCGGGGCAGTG	0.542000													12	172					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025675	18025675	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:18025675C>T	ENST00000205890.5	+	2	3899	c.3561C>T	c.(3559-3561)tcC>tcT	p.S1187S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1187	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGCCTGTCCCTTAGGGGCT	0.637000													19	44					0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11408846	11408846	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11408846G>A	ENST00000316737.1	+	2	248	c.98G>A	c.(97-99)gGc>gAc	p.G33D	TSPAN16_ENST00000592955.1_Missense_Mutation_p.G33D|TSPAN16_ENST00000590327.1_Missense_Mutation_p.G33D	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	33						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GTTGGCCTGGGCATTGGTGGT	0.507000													7	64					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1037968	1037968	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:1037968A>T	ENST00000296849.5	+	10	1065	c.836A>T	c.(835-837)cAc>cTc	p.H279L	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	279					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AGGGCCTCGCACCTCCAGGCC	0.672000													7	7					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52258170	52258170	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52258170G>A	ENST00000494383.1	-	5	621	c.622C>T	c.(622-624)Cca>Tca	p.P208S	TLR9_ENST00000597542.1_Silent_p.P78P|TLR9_ENST00000360658.2_Silent_p.P54P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGAGAAGTGGGGCACAGACT	0.607000													4	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424314	179424314	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179424314G>A	ENST00000589042.1	-	326	86769	c.86545C>T	c.(86545-86547)Cca>Tca	p.P28849S	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19976S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19784S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P26281S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27208S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19909S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27208	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGGTTGGAGGACCTGGG	0.418000													5	134					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324598	61324598	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:61324598G>A	ENST00000283752.5	-	6	661	c.518C>T	c.(517-519)aCa>aTa	p.T173I	SERPINB3_ENST00000332821.8_Missense_Mutation_p.T173I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	173					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGAACCAATGTGGTATTGCT	0.343000													54	20					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100347097	100347097	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100347097G>A	ENST00000294724.4	+	17	2636	c.2158G>A	c.(2158-2160)Gtg>Atg	p.V720M	AGL_ENST00000370161.2_Splice_Site_p.V704M|AGL_ENST00000370163.3_Splice_Site_p.V720M|AGL_ENST00000361302.3_Splice_Site_p.V704M|AGL_ENST00000361522.4_Splice_Site_p.V703M|AGL_ENST00000361915.3_Splice_Site_p.V720M|AGL_ENST00000370165.3_Splice_Site_p.V720M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	720					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGCTTCTCAGGTGTATGTGGA	0.383000													7	96					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680267	36680267	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36680267C>T	ENST00000216181.5	-	40	5867	c.5637G>A	c.(5635-5637)ctG>ctA	p.L1879L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1879					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGGCCTCCTCCAGCTGCCGCT	0.701000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	18					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35836533	35836533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35836533C>T	ENST00000085219.5	+	12	2303	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	CD22_ENST00000270311.6_Intron|CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.P569L|CD22_ENST00000419549.2_Missense_Mutation_p.P574L|CD22_ENST00000536635.2_Missense_Mutation_p.P658L|CD22_ENST00000341773.6_Missense_Mutation_p.P569L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	746					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCTGAAGGCCCCCACTCCCTG	0.577000													22	40					0	0	1	0	0
ZNF830	91603	broad.mit.edu	37	17	33289651	33289651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:33289651G>A	ENST00000361952.3	+	1	1103	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	356					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGATGAGGGGGAACTACAGGA	0.398000													30	37					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31485684	31485684	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:31485684G>A	ENST00000333137.7	+	7	689		c.e7-1		SMTN_ENST00000347557.2_Splice_Site|SMTN_ENST00000358743.1_Splice_Site	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin						muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTCCCTTACAGGTGCCAGAGC	0.617000													4	77					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9957470	9957470	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9957470C>T	ENST00000295980.3	+	17	2100	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	IL17RE_ENST00000421412.1_Silent_p.A694A|IL17RE_ENST00000454190.2_3'UTR|IL17RE_ENST00000383814.3_Silent_p.A661A	NM_153483.2	NP_705616.2	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	661						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GAGAGGCCGCCCGACTTGCAG	0.697000													3	16					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75812396	75812396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:75812396G>A	ENST00000322507.8	-	56	8641	c.8332C>T	c.(8332-8334)Cct>Tct	p.P2778S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2778S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1614S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2702S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2778	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTCCACGAGGACCAGGGGGC	0.502000													3	28					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976148	60976148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:60976148C>T	ENST00000327720.5	+	1	480	c.32C>T	c.(31-33)cCc>cTc	p.P11L		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	11					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AATTTCAGCCCCCAGCAAGTG	0.697000													30	46					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561747	32561747	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:32561747C>T	ENST00000345122.3	+	2	2187	c.1872C>T	c.(1870-1872)gcC>gcT	p.A624A	ARHGAP5_ENST00000432921.1_Silent_p.A624A|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.A624A|ARHGAP5_ENST00000556611.1_Silent_p.A624A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	624					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGAGTATGCCTTAGATGGAA	0.403000													10	103					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131266	17131266	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:17131266G>A	ENST00000418129.2	+	6	3333	c.2868G>A	c.(2866-2868)ttG>ttA	p.L956L	PLCL2_ENST00000432376.1_Silent_p.L956L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1082					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGAGACATTGGAGAACCTGA	0.388000													22	41					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47164226	47164226	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:47164226G>A	ENST00000409792.3	-	3	1942	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAAAAATAGGCAATTCATCT	0.303000			"""N, F, S, Mis"""		clear cell renal carcinoma								16	58					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140039744	140039744	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140039744G>A	ENST00000417647.2	+	15	1458	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	440					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTCTTTGGCATGTCCAAC	0.448000													3	33					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140901293	140901293	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140901293G>A	ENST00000371372.1	+	16	2194	c.2049G>A	c.(2047-2049)atG>atA	p.M683I	CACNA1B_ENST00000371363.1_Missense_Mutation_p.M683I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M684I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M683I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M684I|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	683					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCAAAGGCATGTTCTCGTCCT	0.557000													12	17					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96653848	96653848	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:96653848G>A	ENST00000222598.4	-	1	561	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.P30S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	30					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCCTGAGACGGATGGTGCATA	0.607000													21	78					0	0	1	0	0
NDP	4693	broad.mit.edu	37	X	43817849	43817849	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:43817849G>A	ENST00000378062.5	-	2	450	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	15					canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						ATCACCAGCAGGGAGAGCATA	0.443000													10	69					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166771710	166771710	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166771710C>T	ENST00000243344.7	-	15	2276		c.e15+1			NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAATTACTTACCTAAAACAAG	0.289000													5	114					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538078	1538078	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:1538078G>A	ENST00000263071.4	-	11	2516	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S	SCARF1_ENST00000348987.3_Missense_Mutation_p.P737S|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	823					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGAGATGGGTACAACATTC	0.567000													32	71					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979377	67979377	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67979377C>T	ENST00000422611.2	-	21	2972	c.2933G>A	c.(2932-2934)gGg>gAg	p.G978E	SLC12A4_ENST00000316341.3_Missense_Mutation_p.G976E|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G976E|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G945E|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G928E|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G970E	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	976					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTGTCAGCCCCCACTGCAGA	0.592000													17	39					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108914	65108914	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65108914G>A	ENST00000528416.1	+	4	479	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	DPF2_ENST00000415073.2_Missense_Mutation_p.G116S|DPF2_ENST00000252268.4_Missense_Mutation_p.G116S|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	116					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCTCAGGATGGCAGTAGTTT	0.562000													19	29					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313821	135313821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:135313821C>T	ENST00000316077.9	-	8	1515	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.G397E|MAP7D3_ENST00000370663.5_Missense_Mutation_p.G414E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	432						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTTGGGTGACCCTTTCACACT	0.587000													6	155					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452854	55452854	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55452854C>T	ENST00000588756.1	-	4	712	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	NLRP7_ENST00000448121.2_Missense_Mutation_p.E76K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E76K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E76K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E76K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E104K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E76K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	76	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCATCTCTTCCAAGATGTTC	0.418000													27	53					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60264894	60264894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:60264894G>A	ENST00000016913.4	+	2	160	c.103G>A	c.(103-105)Ggt>Agt	p.G35S	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.G35S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	35						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ACAGCCTCTGGGTTCAATCAA	0.507000													25	90					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11259444	11259444	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11259444C>T	ENST00000361445.4	-	28	4200	c.4124G>A	c.(4123-4125)aGa>aAa	p.R1375K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1375					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATTGTCATCTCTCAGTGGCAG	0.532000													22	46					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46691661	46691661	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46691661G>A	ENST00000239144.4	-	1	640	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	HOXB8_ENST00000576562.1_Missense_Mutation_p.P136S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CGCATCCAGGGGAAGAGCTGT	0.721000													3	15					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98761031	98761031	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:98761031G>A	ENST00000371070.4	-	37	4402	c.4319C>T	c.(4318-4320)gCc>gTc	p.A1440V	SLIT1_ENST00000266058.4_Silent_p.R1481R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR			O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1129	EGF-like 9.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.R1481R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATGACAGGGGGCGCGTGGTCT	0.657000													5	88					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10015372	10015372	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:10015372G>A	ENST00000245046.2	-	5	892	c.434C>T	c.(433-435)aCc>aTc	p.T145I	EMC3_ENST00000497557.1_5'UTR|EMC3_ENST00000429759.1_Missense_Mutation_p.T183I	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		AAAACGGAGGGTCAGTGGAAA	0.398000													28	54					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802241	148802241	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148802241C>T	ENST00000378061.2	-	4	854	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	241					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCTTCTGACACAGGAGCCT	0.572000													9	136					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370909	240370909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:240370909C>T	ENST00000319653.9	+	5	3027	c.2797C>T	c.(2797-2799)Cct>Tct	p.P933S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	933	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCATACTCCCTCTGCCCCC	0.687000													4	22					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579435	7579435	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579435G>A	ENST00000420246.2	-	4	384	c.252C>T	c.(250-252)gcC>gcT	p.A84A	TP53_ENST00000359597.4_Silent_p.A84A|TP53_ENST00000413465.2_Silent_p.A84A|TP53_ENST00000269305.4_Silent_p.A84A|TP53_ENST00000445888.2_Silent_p.A84A|TP53_ENST00000455263.2_Silent_p.A84A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	84	Interaction with WWOX.		A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.A84A(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A84V(1)|p.A83fs*35(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)		CTGGTGCAGGGGCCGCCGGTG	0.617000		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)			9	123					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095157	81095157	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:81095157G>T	ENST00000378611.4	-	3	912	c.797C>A	c.(796-798)gCc>gAc	p.A266D	C16orf46_ENST00000299578.5_Missense_Mutation_p.A266D|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	266										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CAGCTCACTGGCTCTTTTTTC	0.547000													5	140					0.014758	0.0147669	1	1	0
HOMER2	9455	broad.mit.edu	37	15	83521005	83521005	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:83521005C>T	ENST00000304231.8	-	7	877		c.e7-1		HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000450735.2_Splice_Site|HOMER2_ENST00000399166.2_Intron	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)						metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GCTCATCAATCTTCAATACAC	0.458000													15	16					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509416	109509416	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109509416G>A	ENST00000257548.5	+	5	573		c.e5-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCTATGACAGGATGCTCACG	0.498000													28	55					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625538	19625538	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19625538G>A	ENST00000360913.3	-	1	1300	c.699C>T	c.(697-699)ggC>ggT	p.G233G	TSSK6_ENST00000585580.3_Silent_p.G233G			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	233	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACAGCTCGAGGCCTTCGGGAT	0.697000													9	51					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946170	66946170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:66946170C>T	ENST00000299752.4	-	12	1716	c.1523G>A	c.(1522-1524)gGg>gAg	p.G508E	CDH16_ENST00000570262.1_Missense_Mutation_p.G428E|CDH16_ENST00000394055.3_Missense_Mutation_p.G508E|CDH16_ENST00000565796.1_Missense_Mutation_p.G508E|CDH16_ENST00000568632.1_Missense_Mutation_p.G411E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTAACATGCCCAGAGTCTGG	0.587000													29	38					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44186121	44186121	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44186121G>A	ENST00000403799.3	-	8	1429	c.960C>T	c.(958-960)gcC>gcT	p.A320A	GCK_ENST00000395796.3_Silent_p.A319A|GCK_ENST00000345378.2_Silent_p.A321A|GCK_ENST00000437084.1_Silent_p.A303A	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	320					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCTGCTCGGAGGCCTCCCCGT	0.647000													26	78					0	0	1	0	0
ID2	3398	broad.mit.edu	37	2	8822337	8822337	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:8822337C>T	ENST00000234091.4	+	3	902	c.42C>T	c.(40-42)agC>agT	p.S14S	ID2_ENST00000331129.3_Silent_p.S14S|ID2_ENST00000396290.1_Silent_p.S14S			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	14					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAAAAACAGCCTGTCGGACC	0.607000													22	39					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049601	11049601	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:11049601C>T	ENST00000470054.1	-	0	507									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGCACACTGCACAGTTTGCA	0.378000													12	278					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65223262	65223262	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:65223262G>A	ENST00000442266.1	+	0	756																											TTCAAAGAAGGCATAGTCGCT	0.328000													3	24					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150773163	150773163	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:150773163C>T	ENST00000370357.4	+	3	319	c.74C>T	c.(73-75)cCa>cTa	p.P25L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	25						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGGATTCCATCATTTCCT	0.333000													25	43					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102890444	102890444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102890444G>A	ENST00000230792.2	-	5	1171	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.P341S	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	359	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GGCTTACCAGGCTCAATAAAT	0.313000													15	29					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841533	4841533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:4841533G>A	ENST00000399583.3	-	12	2780	c.2593C>T	c.(2593-2595)Ccg>Tcg	p.P865S	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.P625S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	865	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTACGCTCCGGGGCCACTTCC	0.731000													4	12					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18915431	18915431	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:18915431C>T	ENST00000379942.4	-	30	3797	c.3132G>A	c.(3130-3132)tcG>tcA	p.S1044S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1044					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCAGTGGGCGAGGATGGGG	0.662000													14	47					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71859995	71859995	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:71859995G>A	ENST00000373255.4	+	7	984	c.720G>A	c.(718-720)gaG>gaA	p.E240E	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	240	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGGGAAAAGAGTTCTTGGAAA	0.483000													17	24					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55618622	55618622	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:55618622G>A	ENST00000247191.2	-	17	2375	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S720F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	720					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTCTCACTGGATAAACAATC	0.318000													17	30					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19613183	19613183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19613183G>A	ENST00000404158.1	+	13	2040	c.1622G>A	c.(1621-1623)gGt>gAt	p.G541D	GATAD2A_ENST00000252577.5_Missense_Mutation_p.G515D|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G343D|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G540D|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G169D|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G540D			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	540					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACGCCCCGAGGTGTCCTGCAC	0.642000													39	71					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34787257	34787257	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34787257G>A	ENST00000290219.6	+	2	784	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	IFNGR2_ENST00000381995.1_Missense_Mutation_p.V65I|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	46	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CGCAGAGCAGGTCCTGAGTTG	0.542000													21	46					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50131259	50131259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:50131259G>A	ENST00000347869.3	+	4	465	c.290G>A	c.(289-291)aGc>aAc	p.S97N	RBM5_ENST00000469838.1_Missense_Mutation_p.S97N	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	97					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)		GAGAGGGAGAGCAAGACCATC	0.498000													45	61					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202715409	202715409	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:202715409C>T	ENST00000367265.3	-	15	3223	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D723N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	687					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGTTCATCATCTGGCAACAGC	0.403000													4	89					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158490649	158490649	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158490649G>A	ENST00000355585.4	+	14	1959	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	SYNJ2_ENST00000367121.3_Silent_p.Q628Q|SYNJ2_ENST00000367122.2_Silent_p.Q628Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	628							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCGGCACAGCTGGTGGGCG	0.458000													5	46					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	875243	875243	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:875243C>T	ENST00000312090.6	-	10	1922		c.e10+1		MED16_ENST00000269814.4_Splice_Site|MED16_ENST00000606828.1_Splice_Site|MED16_ENST00000589119.1_Splice_Site|MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000395808.3_Splice_Site			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAGGACCCACCGACGTCGGT	0.502000													24	48					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50740609	50740609	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:50740609C>T	ENST00000355832.5	-	2	480	c.402G>A	c.(400-402)cgG>cgA	p.R134R	ERCC6-PGBD3_ENST00000515869.1_Silent_p.R134R|PGBD3_ENST00000603152.1_Silent_p.R134R|ERCC6-PGBD3_ENST00000447839.2_Silent_p.R134R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	134			R -> W.		base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAGGACCGACCGATACTCCT	0.532000								Direct reversal of damage;Nucleotide excision repair (NER)					4	52					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71096124	71096124	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:71096124C>T	ENST00000318789.4	-	10	1158	c.633G>A	c.(631-633)caG>caA	p.Q211Q	FOXP1_ENST00000491238.1_Silent_p.Q213Q|FOXP1_ENST00000475937.1_Silent_p.Q211Q|FOXP1_ENST00000484350.1_Silent_p.Q135Q|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000498215.1_Silent_p.Q211Q|FOXP1_ENST00000468577.1_Silent_p.Q211Q|FOXP1_ENST00000493089.1_Silent_p.Q211Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGGGCAGGCTGCCCGGGCT	0.527000			T	PAX5	ALL								5	241					0	0	1	0	0
CXCL11	6373	broad.mit.edu	37	4	76956267	76956267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:76956267G>A	ENST00000306621.3	-	3	403	c.194C>T	c.(193-195)aCc>aTc	p.T65I	ART3_ENST00000341029.5_Intron|CXCL11_ENST00000503860.1_Missense_Mutation_p.T65I	NM_005409.4	NP_005400.1	O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	65					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTTTCAGGGTAATACTGTT	0.328000													6	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091477	9091477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9091477G>A	ENST00000397910.4	-	1	541	c.338C>T	c.(337-339)cCc>cTc	p.P113L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	113	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCCTAGAGGGAGTTCCATT	0.512000													13	73					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94212043	94212043	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:94212043C>T	ENST00000323929.3	-	6	625		c.e6-1		MRE11A_ENST00000540013.1_Splice_Site|MRE11A_ENST00000393241.4_Splice_Site|MRE11A_ENST00000323977.3_Splice_Site|MRE11A_ENST00000407439.3_Splice_Site	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGCATCTGCCTATGCAAAAT	0.358000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				7	48					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7163208	7163208	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:7163208G>A	ENST00000341500.5	-	9	1903	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	INSR_ENST00000302850.5_Missense_Mutation_p.P622S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	622	Fibronectin type-III 1.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCACAGAGGGGTCTGTCAGG	0.502000													7	112					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862015	122862015	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:122862015C>T	ENST00000358808.2	-	3	732	c.578G>A	c.(577-579)aGt>aAt	p.S193N	CLIP1_ENST00000540338.1_Missense_Mutation_p.S193N|CLIP1_ENST00000361654.4_Missense_Mutation_p.S193N|CLIP1_ENST00000537178.1_Missense_Mutation_p.S193N|CLIP1_ENST00000302528.7_Missense_Mutation_p.S193N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	193	Ser-rich.			S -> G (in Ref. 3; AAI14214).	mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GATAGATTCACTGGCAGTTTT	0.478000													72	153					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031284	21031284	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:21031284G>A	ENST00000247986.2	-	5	1089	c.779C>T	c.(778-780)gCc>gTc	p.A260V	KIF17_ENST00000375044.1_Missense_Mutation_p.A160V|KIF17_ENST00000400463.3_Missense_Mutation_p.A260V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	260	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GATCTTGGTGGCCTCCTTGAG	0.677000													42	59					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043234	46043234	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:46043234G>A	ENST00000295452.4	-	9	1336	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	390					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTATTCATTGGAATCAGAGT	0.393000													3	57					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16460069	16460069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16460069G>A	ENST00000358432.5	-	10	1925	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	591					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TATGTGTGGGGGTCCACGTAT	0.587000													6	52					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67997378	67997378	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67997378G>A	ENST00000316341.3	-	2	340	c.200C>T	c.(199-201)gCa>gTa	p.A67V	SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000422611.2_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A67V|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A36V|SLC12A4_ENST00000572037.1_Intron|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A67V|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A61V	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	67					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCAAACAGTGCCAGGTTCCT	0.547000													4	78					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785507	37785507	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:37785507C>T	ENST00000314103.5	+	12	1538	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTGCCGGGGCCTTCGGAGGA	0.622000													7	23					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633715	45633715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:45633715C>T	ENST00000327619.5	+	4	664	c.290C>T	c.(289-291)cCt>cTt	p.P97L	EYA2_ENST00000317304.6_Missense_Mutation_p.P97L|EYA2_ENST00000357410.3_Missense_Mutation_p.P97L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	97					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TATGGAATCCCTTCCTACAGT	0.507000													8	51					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45644437	45644437	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45644437C>T	ENST00000267430.5	+	14	2565	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	FANCM_ENST00000542564.2_Missense_Mutation_p.S801F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	827					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGCAGTTCATCCTCAGTGATA	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	24					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769302	148769302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:148769302G>A	ENST00000316286.9	-	3	576	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ZNF786_ENST00000491431.1_Missense_Mutation_p.P188S|ZNF786_ENST00000451334.3_Missense_Mutation_p.P151S			Q8N393	ZN786_HUMAN	zinc finger protein 786	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACAGGCCAAGGGTGCTGGGTG	0.562000													7	20					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6426408	6426408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:6426408C>T	ENST00000321510.6	-	7	1173	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	369					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCCTATATGCCCAGGGTTTTC	0.577000													4	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426425	179426425	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179426425G>A	ENST00000589042.1	-	326	84658	c.84434C>T	c.(84433-84435)gCt>gTt	p.A28145V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A19272V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A19080V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A25577V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A26504V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A19205V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26504	Fibronectin type-III 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAACAACAGCTGAAGATTC	0.463000													3	35					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234366	8234366	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:8234366C>T	ENST00000520004.1	-	3	1817	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	SGK223_ENST00000330777.4_Missense_Mutation_p.G518E			Q86YV5	SG223_HUMAN		518							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAGCCCCTGCCCAGCCGAAGT	0.627000													12	21					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60030340	60030340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:60030340C>T	ENST00000397786.2	-	27	6179	c.6103G>A	c.(6103-6105)Ggt>Agt	p.G2035S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2035					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCGCATCACCTCCATGGGGG	0.498000													20	95					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476596	120476596	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:120476596C>T	ENST00000355622.6	+	3	2291	c.2190C>T	c.(2188-2190)agC>agT	p.S730S	TLR4_ENST00000394487.4_Silent_p.S690S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	730	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCCATAAAAGCCGAAAGGTGA	0.493000													21	36					0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23052667	23052667	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:23052667G>A	ENST00000437912.2	-	4	1478	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	NIPA1_ENST00000337435.4_Silent_p.L136L|NIPA1_ENST00000561183.1_Silent_p.L61L|NIPA1_ENST00000538684.1_5'UTR			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	136					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TGGATAATCAGCACGACGGAG	0.488000													30	134					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62020327	62020327	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:62020327C>T	ENST00000578147.1	-	23	4223	c.4147G>A	c.(4147-4149)Gac>Aac	p.D1383N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D1383N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1383					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TACAGGATGTCCACCTTGAGC	0.527000													47	73					0	0	1	0	0
PIM3	415116	broad.mit.edu	37	22	50356444	50356444	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:50356444G>A	ENST00000360612.4	+	5	1159	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	242	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGTGTGGGGACATCCCCTT	0.682000													25	34					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220421232	220421232	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220421232C>T	ENST00000404537.1	-	13	4336	c.4280G>A	c.(4279-4281)gGg>gAg	p.G1427E	OBSL1_ENST00000265317.5_Missense_Mutation_p.G326E|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.G1427E|OBSL1_ENST00000373876.1_Missense_Mutation_p.G1335E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1427	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGTCACGGTCCCTGCATCCCC	0.617000													35	50					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512224	9512224	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9512224C>T	ENST00000402466.1	+	20	3280	c.2512C>T	c.(2512-2514)Cta>Tta	p.L838L	SETD5_ENST00000302463.6_Silent_p.L838L|SETD5_ENST00000402198.1_Silent_p.L936L|SETD5_ENST00000406341.1_Silent_p.L936L|SETD5_ENST00000407969.1_Silent_p.L955L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	936										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TAGACCTTCCCTACTCAACTC	0.478000													4	193					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840992	40840992	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40840992C>T	ENST00000264638.4	+	10	1772	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	519	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACTGGTCAACCTGACTCTGGT	0.557000													29	73					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95131365	95131365	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:95131365C>T	ENST00000377028.5	-	1	558	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	DCT_ENST00000446125.1_Missense_Mutation_p.A49T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	49					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CAGACATTGGCCGACTCTGCA	0.617000													11	40					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	26921244	26921244	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:26921244G>A	ENST00000382009.3	+	2	798	c.531G>A	c.(529-531)gaG>gaA	p.E177E	STIM2_ENST00000467087.1_Silent_p.E90E|STIM2_ENST00000465503.1_Silent_p.E90E|STIM2_ENST00000467011.1_Silent_p.E90E|STIM2_ENST00000237364.5_Silent_p.E177E|STIM2_ENST00000412829.2_Silent_p.E177E	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	90	SAM.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTGAAGTAGAGGAAAGTGATG	0.368000													6	65					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49936988	49936988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49936988G>A	ENST00000221485.3	-	7	1033	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	SLC17A7_ENST00000543531.1_Missense_Mutation_p.L276F|SLC17A7_ENST00000600601.1_Missense_Mutation_p.L221F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	288					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGGACCGTGAGGGGGTTCATG	0.622000													11	24					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33588754	33588754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33588754C>T	ENST00000170564.2	+	8	1260	c.946C>T	c.(946-948)Cct>Tct	p.P316S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	316						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGACGAGGAGCCTGGAGACGG	0.478000													8	169					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358777	12358777	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:12358777C>G	ENST00000269143.3	-	8	1149	c.918G>C	c.(916-918)aaG>aaC	p.K306N		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	306					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.K306K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CATCTTTGAACTTCACATCAA	0.493000													31	55					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51242132	51242132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51242132G>A	ENST00000261842.5	+	12	1532	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E401K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	476					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	p.E476K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTACTAGCGGAAGGTTGGTA	0.318000													14	58					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603215	52603215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:52603215C>T	ENST00000521776.2	+	2	1008	c.275C>T	c.(274-276)cCc>cTc	p.P92L	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	92					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CTGCTTGAGCCCGTTAAAACT	0.418000													11	89					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830185	830185	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:830185G>A	ENST00000293892.3	-	3	815	c.816C>T	c.(814-816)acC>acT	p.T272T	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	246					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGCTGTGAGGGTCCCGGCGG	0.667000													6	15					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102453941	102453941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:102453941C>T	ENST00000360184.4	+	9	2854	c.2690C>T	c.(2689-2691)cCc>cTc	p.P897L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	897	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCAATTTGCCCATCTGGGTC	0.408000													8	41					0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6762507	6762507	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6762507G>A	ENST00000341550.4	-	3	211	c.165C>T	c.(163-165)agC>agT	p.S55S	ING4_ENST00000446105.2_Silent_p.S55S|ING4_ENST00000412586.2_Silent_p.S55S|ING4_ENST00000486287.1_Intron|ING4_ENST00000423703.2_Silent_p.S55S|ING4_ENST00000444704.2_Silent_p.S31S|ING4_ENST00000396807.4_Silent_p.S55S			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	55					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CGGAGCTCAGGCTGCGGGCAC	0.522000													8	34					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133201301	133201301	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:133201301G>A	ENST00000320574.5	-	49	6886	c.6843C>T	c.(6841-6843)aaC>aaT	p.N2281N	POLE_ENST00000535270.1_Silent_p.N2254N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2281					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCAGCTGTGGGTTCTTCTGCA	0.622000								DNA polymerases (catalytic subunits)					26	40					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109774983	109774983	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:109774983G>A	ENST00000368952.4	-	3	671	c.381C>T	c.(379-381)gcC>gcT	p.A127A	MICAL1_ENST00000358807.3_Silent_p.A108A|MICAL1_ENST00000358577.3_Silent_p.A108A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	108					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCACCACTCGGGCCCCCAGCA	0.652000													15	51					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19484954	19484954	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:19484954C>T	ENST00000407835.1	+	9	893	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	CDC45_ENST00000263201.1_Silent_p.L213L|CDC45_ENST00000404724.3_Silent_p.L167L|CDC45_ENST00000437685.2_Silent_p.L245L			O75419	CDC45_HUMAN	cell division cycle 45	213					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCAAGGACCTGAATGACAT	0.562000													16	191					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211305402	211305402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:211305402G>A	ENST00000443314.1	-	5	952	c.610C>T	c.(610-612)Cca>Tca	p.P204S	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.P204S|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.P204S|LANCL1_ENST00000233714.4_Missense_Mutation_p.P204S|LANCL1_ENST00000450366.2_Missense_Mutation_p.P204S			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	204						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACATCAGTGGAGACTTTGCC	0.408000													19	43					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122812507	122812507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:122812507G>A	ENST00000358808.2	-	16	3357	c.3203C>T	c.(3202-3204)gCc>gTc	p.A1068V	CLIP1_ENST00000540338.1_Missense_Mutation_p.A1079V|CLIP1_ENST00000361654.4_Missense_Mutation_p.A957V|CLIP1_ENST00000545889.1_Missense_Mutation_p.A654V|CLIP1_ENST00000537178.1_Missense_Mutation_p.A1033V|CLIP1_ENST00000302528.7_Missense_Mutation_p.A1068V	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1079					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGCTTTGTCGGCTTGCTTTCT	0.562000													38	60					0	0	1	0	0
SIVA1	10572	broad.mit.edu	37	14	105222083	105222083	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:105222083C>T	ENST00000329967.6	+	2	337	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	79					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TACAGGGGCCCCGAGGGCTGC	0.667000													4	19					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122274680	122274680	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:122274680C>T	ENST00000462315.1	-	4	631	c.338G>A	c.(337-339)gGc>gAc	p.G113D	PARP9_ENST00000471785.1_Missense_Mutation_p.G113D|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.G113D|PARP9_ENST00000360356.2_Missense_Mutation_p.G148D	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	148	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAGGGCCAGGCCTCCCCCATG	0.483000													4	58					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879075	144879075	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:144879075C>T	ENST00000369359.4	-	30	4821	c.4783G>A	c.(4783-4785)Gag>Aag	p.E1595K	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1459K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1595K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1415K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1459K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1459	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCAGCTTCTCTTCTAGTCCA	0.517000			T	PDGFRB	MPD								4	208					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101680215	101680215	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:101680215C>T	ENST00000261637.4	+	5	617	c.443C>T	c.(442-444)gCt>gTt	p.A148V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	148					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTAGAATGGGCTTTCACCTCG	0.428000													10	154					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103450858	103450858	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103450858C>T	ENST00000376004.4	-	1	499	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	55						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGTATCCACTGCCTGAATA	0.488000													13	28					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392371	74392371	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74392371G>A	ENST00000319380.7	-	14	2711	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	883							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TCTACGTCGGGCACTGCTTCC	0.567000													4	147					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231027	1231027	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:1231027C>T	ENST00000590083.1	-	9	1519	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	C19orf26_ENST00000215376.6_Silent_p.R403R|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	439						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCTGGGCCGCCTAGGGG	0.706000										HNSCC(14;0.022)			11	9					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167830293	167830293	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:167830293G>A	ENST00000367848.1	-	15	1846	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V	ADCY10_ENST00000367851.4_Missense_Mutation_p.A542V|ADCY10_ENST00000545172.1_Missense_Mutation_p.A389V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	542					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAATGAAATGGCAATAATCCT	0.323000													17	39					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576448	111576448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:111576448C>T	ENST00000261486.5	-	10	1131	c.855G>A	c.(853-855)tgG>tgA	p.W285*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	285	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACTGCACTTCCAGAGGTGCT	0.323000													35	50					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116003	15116003	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:15116003C>T	ENST00000253699.3	-	14	2254	c.1641G>A	c.(1639-1641)cgG>cgA	p.R547R	ZFYVE20_ENST00000476527.2_Silent_p.R547R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	547	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGTCCAGGGACCGAGTCCGTG	0.582000													28	55					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	882433	882433	+	Silent	SNP	G	G	A	rs150827598		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:882433G>A	ENST00000316157.3	-	7	700	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	220	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CATCCACTTGGACTAAAGGTA	0.318000													29	96					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10945949	10945949	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10945949C>T	ENST00000214869.2	-	2	362	c.264G>A	c.(262-264)aaG>aaA	p.K88K	TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Silent_p.K88K	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	88	GOLD.				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CCCCATCAGCCTTGCGGGACT	0.637000													12	145					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140344	104140344	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:104140344G>A	ENST00000369983.3	+	38	5331	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1691					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGATGCACGGGGAGGCGGCCC	0.577000													17	351					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493485	150493485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150493485G>A	ENST00000447204.2	-	2	545	c.173C>T	c.(172-174)gCc>gTc	p.A58V	TMEM176B_ENST00000434545.1_Missense_Mutation_p.A58V|TMEM176B_ENST00000429904.2_Missense_Mutation_p.A58V|TMEM176B_ENST00000492607.1_Missense_Mutation_p.A58V|TMEM176B_ENST00000326442.5_Missense_Mutation_p.A58V|TMEM176B_ENST00000450753.2_Missense_Mutation_p.A58V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	58					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAATCCTGGCTGTGGAAGG	0.522000													20	47					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82752588	82752588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:82752588G>A	ENST00000248306.3	+	1	313	c.244G>A	c.(244-246)Gca>Aca	p.A82T	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		CCTAGTGGAAGCAGAGTGGGA	0.687000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	19					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125746982	125746982	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:125746982G>A	ENST00000373647.4	+	3	503	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	123					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCCTACCAGTGAAACCTGGAC	0.448000													18	25					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154997013	154997013	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:154997013G>A	ENST00000368424.3	-	11	1735	c.1677C>T	c.(1675-1677)caC>caT	p.H559H	DCST2_ENST00000295536.5_Silent_p.H559H	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	559						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCACTGATCGGTGCAGGGCAG	0.607000													21	45					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621777	32621777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:32621777C>T	ENST00000338921.4	+	13	2321	c.1804C>T	c.(1804-1806)Ccc>Tcc	p.P602S	NRG1_ENST00000287845.5_Missense_Mutation_p.P565S|NRG1_ENST00000519301.1_Missense_Mutation_p.P544S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Missense_Mutation_p.P437S|NRG1_ENST00000356819.4_Missense_Mutation_p.P599S|NRG1_ENST00000405005.3_Missense_Mutation_p.P594S|NRG1_ENST00000287842.3_Missense_Mutation_p.P591S			Q02297	NRG1_HUMAN	neuregulin 1	594					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.P599A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATACAGAACCCCCTGGCAGC	0.552000													20	38					0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24779991	24779991	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24779991G>A	ENST00000336557.5	-	0	610				LTB4R2_ENST00000543919.1_Missense_Mutation_p.V41M|CIDEB_ENST00000258807.5_De_novo_Start_InFrame|LTB4R2_ENST00000528054.1_Missense_Mutation_p.V72M|LTB4R2_ENST00000533293.1_Missense_Mutation_p.V41M			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CAACGGCTTCGTGGTGTGGAG	0.721000													22	14					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104324308	104324308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:104324308G>A	ENST00000299767.5	+	1	197	c.15G>A	c.(13-15)tgG>tgA	p.W5*	MIR3652_ENST00000579335.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	5					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GGGCCCTGTGGGTGCTGGGCC	0.677000													3	10					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277415	100277415	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:100277415G>A	ENST00000403410.1	+	6	1238	c.618G>A	c.(616-618)caG>caA	p.Q206Q	TMEM45A_ENST00000323523.4_Silent_p.Q190Q			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	190						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTCTGCTTCAGGGGAGCTGGT	0.483000													8	186					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112029802	112029802	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:112029802C>T	ENST00000374566.3	-	4	1001	c.484G>A	c.(484-486)Gtt>Att	p.V162I	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V162I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	162	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGTATTTAACTCGAAAGTGT	0.448000													24	40					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687551	123687551	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123687551G>A	ENST00000606320.1	-	10	1607	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	MPHOSPH9_ENST00000541076.2_Silent_p.A437A|MPHOSPH9_ENST00000302349.5_Silent_p.A315A|MPHOSPH9_ENST00000392425.3_Silent_p.A315A			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	315					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGTCATCAAGGGCATTCGGAA	0.463000													28	162					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156522331	156522331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:156522331G>A	ENST00000307851.4	-	5	1392	c.662C>T	c.(661-663)gCt>gTt	p.A221V	HAVCR2_ENST00000522593.1_Missense_Mutation_p.A193V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	221						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAAATTAAAGCGCCGAAGAT	0.428000													32	52					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442908	33442908	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:33442908C>T	ENST00000297991.4	-	4	514	c.434G>A	c.(433-435)gGc>gAc	p.G145D	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	145					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGCAAAGATGCCGGCTGTGCC	0.567000													46	73					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100515477	100515477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100515477G>A	ENST00000370152.3	+	2	233	c.97G>A	c.(97-99)Ggt>Agt	p.G33S		NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	33					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TCAAGGAATAGGTTCTCCTAG	0.308000													6	82					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614304	36614304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:36614304C>T	ENST00000311485.3	-	2	1576	c.1415G>A	c.(1414-1416)gGa>gAa	p.G472E		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	472					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTTGTTGCTTCCTGCTGACAG	0.498000									Familial Hemophagocytic Lymphohistiocytosis				35	63					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834449	125834449	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:125834449G>A	ENST00000299308.3	+	2	512	c.504G>A	c.(502-504)agG>agA	p.R168R	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	168						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGAGGCCAGGGAAGTGGCAG	0.587000													34	97					0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61666402	61666402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61666402G>A	ENST00000310827.4	+	8	1114	c.897G>A	c.(895-897)atG>atA	p.M299I	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.M99I	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	299					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TCCAGCAAATGCCCCGAGCCA	0.552000													13	24					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33613705	33613705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:33613705G>A	ENST00000399022.4	-	2	418	c.247C>T	c.(247-249)Cca>Tca	p.P83S	RPRD1A_ENST00000590898.1_Missense_Mutation_p.P47S|RPRD1A_ENST00000337059.5_Missense_Mutation_p.P47S|RPRD1A_ENST00000357384.4_Missense_Mutation_p.P83S|RPRD1A_ENST00000319040.6_Missense_Mutation_p.P83S|RPRD1A_ENST00000588737.1_Missense_Mutation_p.P47S	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	83	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						ACTATAACTGGTGCAAAATCT	0.373000													5	86					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932052	83932052	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:83932052C>T	ENST00000345382.2	-	4	2036	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	BNC1_ENST00000569704.1_Missense_Mutation_p.D644N|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	651					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGCCACCATCCTCGACCTCC	0.557000													28	77					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125473484	125473484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:125473484G>A	ENST00000308736.2	-	1	183	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	29							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCTGCACGGGGGGCGGCTCG	0.706000													7	13					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158900784	158900784	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:158900784G>A	ENST00000367097.3	+	7	2385	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TULP4_ENST00000367094.2_Splice_Site_p.R343H	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	343					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCCTGCCAGCGCCCCATCATC	0.532000													13	43					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61895702	61895702	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:61895702C>T	ENST00000394818.3	+	2	271	c.69C>T	c.(67-69)ctC>ctT	p.L23L	INCENP_ENST00000278849.4_Silent_p.L23L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	23					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGAGTTTCTCTGCAACATGG	0.567000													16	32					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55656912	55656912	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:55656912C>T	ENST00000588981.1	-	6	332	c.128G>A	c.(127-129)aGc>aAc	p.S43N	TNNT1_ENST00000356783.5_Splice_Site_p.S32N|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000291901.8_Splice_Site_p.S43N|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Splice_Site_p.S32N|TNNT1_ENST00000588426.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	43					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		AGGATCTCACCTTGGTTTGGG	0.532000													73	128					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79781975	79781975	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:79781975C>T	ENST00000372371.3	-	6	950	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	271					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGGTGCCAGACTTCAAATCAC	0.423000													5	61					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785390	39785390	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:39785390C>T	ENST00000518237.1	+	10	1537	c.898C>T	c.(898-900)Cca>Tca	p.P300S	IDO1_ENST00000522495.1_Missense_Mutation_p.P300S|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	300					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AAGATATATGCCACCAGCTCA	0.483000													3	12					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18926018	18926018	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:18926018C>T	ENST00000379942.4	-	22	3182	c.2517G>A	c.(2515-2517)gaG>gaA	p.E839E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	839					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCGCACTGACCTCAGCCAGGA	0.542000													34	87					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49304983	49304983	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:49304983G>A	ENST00000559471.1	-	12	1856	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	SECISBP2L_ENST00000261847.3_Silent_p.D486D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	531										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TATTAGTAGAGTCTTTAGTGT	0.353000													9	86					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395805	38395805	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:38395805C>T	ENST00000377698.3	+	2	213	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	20					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCGCTACTCCTCGGCAGCAG	0.577000													7	56					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102242265	102242265	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:102242265G>A	ENST00000343737.5	+	6	876	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	250					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGTGCACCTGGAGGACTCCCC	0.692000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222351	56222351	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56222351G>A	ENST00000357606.3	-	3	381	c.92C>T	c.(91-93)cCt>cTt	p.P31L	DNAJC14_ENST00000317269.3_Missense_Mutation_p.P31L|DNAJC14_ENST00000317287.5_Missense_Mutation_p.P31L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	31					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGGTATTTCAGGGTCCACGGA	0.592000													9	92					0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195925176	195925176	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195925176C>T	ENST00000296326.3	-	7	999	c.920G>A	c.(919-921)gGg>gAg	p.G307E		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	307						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TCACCACGCCCCGGGGGTCCC	0.637000													15	17					0	0	1	0	0
SLC25A4	291	broad.mit.edu	37	4	186066058	186066058	+	Silent	SNP	C	C	T	rs145413043	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:186066058C>T	ENST00000281456.6	+	2	384	c.252C>T	c.(250-252)acC>acT	p.T84T		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4						energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ACTTCCCCACCCAAGCTCTCA	0.527000													5	64					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200567377	200567377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:200567377G>A	ENST00000367350.4	-	14	2975	c.2537C>T	c.(2536-2538)gCt>gTt	p.A846V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	846	FHA.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATGATCATCAGCAATCAGCAC	0.348000													33	53					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75813479	75813479	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:75813479C>T	ENST00000322507.8	-	55	8622	c.8313G>A	c.(8311-8313)ggG>ggA	p.G2771G	COL12A1_ENST00000483888.2_Silent_p.G2771G|COL12A1_ENST00000345356.6_Silent_p.G1607G|COL12A1_ENST00000416123.2_Silent_p.G2695G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2771	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTACAATTGCCCCACTGATAC	0.378000													10	28					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400093	85400093	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:85400093G>A	ENST00000258888.5	+	6	2897	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	910					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGAGAGAAGGGGACGCAGT	0.602000													4	58					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278037	154278037	+	Missense_Mutation	SNP	C	C	T	rs35899504		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:154278037C>T	ENST00000285873.7	-	23	3383	c.3308G>A	c.(3307-3309)gGa>gAa	p.G1103E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1103					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCTGGGCTCCCACCCAGTT	0.522000													41	65					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262738	45262738	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:45262738C>T	ENST00000164227.5	+	9	1475	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	411	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCAGGGACCCCCCTGGATT	0.642000			T	IGH@	CLL								12	240					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89603256	89603256	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89603256C>T	ENST00000341316.2	+	10	1415	c.1408C>T	c.(1408-1410)Ccc>Tcc	p.P470S	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	350					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCTCACGGAGCCCACAGGGTC	0.577000													57	137					0	0	1	0	0
RTCA	8634	broad.mit.edu	37	1	100731938	100731938	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:100731938G>A	ENST00000370128.4	+	1	176	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	RTCA_ENST00000370126.1_Missense_Mutation_p.G3R|RTCA_ENST00000498617.1_3'UTR|RTCA_ENST00000260563.4_Missense_Mutation_p.G3R	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	3					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										CCCCATGGCGGGGCCGCGGGT	0.662000													5	71					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276326	16276326	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:16276326G>A	ENST00000205557.7	-	17	2219	c.2190C>T	c.(2188-2190)gcC>gcT	p.A730A	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	730	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTGGCTGCAGGGCACAGGCTT	0.577000													4	55					0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19378818	19378818	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:19378818C>T	ENST00000380394.4	-	3	295	c.237G>A	c.(235-237)aaG>aaA	p.K79K	RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000380384.1_Silent_p.K48K|RPS6_ENST00000315377.4_Silent_p.K48K	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	79					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AGGAATGCCCCTTACTCAGTA	0.493000													16	58					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83277715	83277715	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:83277715G>A	ENST00000313899.7	-	7	1252	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000541060.1_Silent_p.N171N|HNRNPD_ENST00000352301.4_Silent_p.N306N|HNRNPD_ENST00000508119.1_Intron|HNRNPD_ENST00000543098.1_Silent_p.N273N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	325	Gly-rich.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ATCCATAGTAGTTGTTGTAAC	0.343000													9	77					0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41165522	41165522	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:41165522C>T	ENST00000220507.4	-	3	594	c.445G>A	c.(445-447)Gac>Aac	p.D149N		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	149					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TTGACATCGTCCCTCAGGTCG	0.647000													8	80					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42503475	42503475	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:42503475G>A	ENST00000398675.3	-	4	737	c.505C>T	c.(505-507)Cta>Tta	p.L169L	GXYLT1_ENST00000280876.6_Silent_p.L138L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	169					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AATGTTTGTAGAAATGACCAG	0.303000													10	41					0	0	1	0	0
TSPAN1	10103	broad.mit.edu	37	1	46650705	46650705	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:46650705C>T	ENST00000372003.1	+	7	976	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	171						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				AGTGCCTTTCCCCCATTCTGT	0.502000													5	95					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159492060	159492060	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:159492060T>G	ENST00000231238.5	+	8	977	c.867T>G	c.(865-867)aaT>aaG	p.N289K	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Missense_Mutation_p.N289K	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	289					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAAATCCAAATAATAACAGAT	0.418000													4	71					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149898633	149898633	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:149898633G>A	ENST00000445323.2	+	7	729	c.608G>A	c.(607-609)gGg>gAg	p.G203E	MTMR1_ENST00000538506.1_Missense_Mutation_p.G82E|MTMR1_ENST00000370390.3_Missense_Mutation_p.G195E|MTMR1_ENST00000544228.1_Missense_Mutation_p.G195E|MTMR1_ENST00000451863.2_Missense_Mutation_p.G195E|MTMR1_ENST00000542156.1_Missense_Mutation_p.G195E|MTMR1_ENST00000541925.1_Missense_Mutation_p.G101E			Q13613	MTMR1_HUMAN	myotubularin related protein 1	195						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAAACTAGGGATATTTGAA	0.393000													25	59					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49213183	49213183	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49213183C>T	ENST00000332780.2	+	6	1223	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A		NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	338						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGTGTGGCCCAGGGCCCCA	0.657000													4	54					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576509	67576509	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67576509G>A	ENST00000540839.3	+	14	2100	c.1880G>A	c.(1879-1881)aGc>aAc	p.S627N	FAM65A_ENST00000379312.3_Missense_Mutation_p.S611N|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.S627N|FAM65A_ENST00000042381.4_Missense_Mutation_p.S607N|FAM65A_ENST00000428437.2_Missense_Mutation_p.S621N			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	611	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACTATGCCAAGCCCTACCCAT	0.547000													23	230					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174664	140174664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140174664G>A	ENST00000526136.1	+	1	115	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A39T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A39T	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGAGGAGGCCAAACACGG	0.706000													7	81					0	0	1	0	0
HMGB1	3146	broad.mit.edu	37	13	31037402	31037402	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:31037402G>A	ENST00000405805.1	-	3	1178	c.238C>T	c.(238-240)Cct>Tct	p.P80S	HMGB1_ENST00000339872.4_Missense_Mutation_p.P80S|HMGB1_ENST00000341423.5_Missense_Mutation_p.P80S|HMGB1_ENST00000399494.1_Missense_Mutation_p.P80S|HMGB1_ENST00000326004.4_Missense_Mutation_p.P80S|HMGB1_ENST00000399489.1_Missense_Mutation_p.P80S			P09429	HMGB1_HUMAN	high mobility group box 1	80					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCTTTGGGAGGGATATAGGTT	0.413000													31	56					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9754659	9754659	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9754659G>A	ENST00000383832.3	+	10	736	c.546G>A	c.(544-546)acG>acA	p.T182T	CPNE9_ENST00000383831.3_Splice_Site_p.T182T	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	182	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TCCCCTCCAGGTTCACCATCT	0.512000													12	24					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22211561	22211561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:22211561G>A	ENST00000229329.2	+	4	750	c.620G>A	c.(619-621)tGg>tAg	p.W207*		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	207					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGACAAGACTGGGATGGAGAA	0.393000													55	96					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420184	105420184	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:105420184G>A	ENST00000333244.5	-	7	1723	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	535						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCACCCGGCTCCTTCCAC	0.577000													5	52					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85769336	85769336	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:85769336C>T	ENST00000373131.1	+	2	706	c.543C>T	c.(541-543)gcC>gcT	p.A181A	DACH2_ENST00000508860.1_Silent_p.A27A|DACH2_ENST00000373125.4_Silent_p.A194A|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGAAAATGCCCGCCTTCTGA	0.463000													7	19					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105090	14105090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:14105090G>A	ENST00000235372.7	+	8	1656	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G66E|PRDM2_ENST00000413440.1_Missense_Mutation_p.G66E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G267E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	267						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATGATTTgggggaagaggag	0.547000													4	43					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078570	78078570	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78078570G>A	ENST00000302262.3	+	2	404	c.185G>A	c.(184-186)aGa>aAa	p.R62K	GAA_ENST00000390015.3_Missense_Mutation_p.R62K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	62					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGAGCCAGCAGACCAGGGCCC	0.667000													5	11					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110394717	110394717	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:110394717G>A	ENST00000378402.5	+	4	438	c.334G>A	c.(334-336)Gtt>Att	p.V112I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	112	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCCTACACTGTTAGAGTCAG	0.378000										HNSCC(38;0.096)			13	43					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15971616	15971616	+	Nonsense_Mutation	SNP	C	C	T	rs75833586		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:15971616C>T	ENST00000380701.3	+	26	4091	c.3763C>T	c.(3763-3765)Cga>Tga	p.R1255*	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1255																	GATAGGATCACGAGACCATTC	0.363000													9	225					0	0	1	0	0
ATP5G1	516	broad.mit.edu	37	17	46972649	46972649	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:46972649G>A	ENST00000393366.2	+	4	352	c.249G>A	c.(247-249)ggG>ggA	p.G83G	ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000514808.1_Silent_p.G83G|ATP5G1_ENST00000503641.1_Silent_p.G74G|ATP5G1_ENST00000355938.5_Silent_p.G83G|ATP5G1_ENST00000506855.1_Silent_p.G57G|RP11-463M16.4_ENST00000508743.1_RNA	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	83					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			liver(1)|lung(1)	2						CTGGTTCAGGGGCTGGCATTG	0.552000													20	55					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482562	54482562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:54482562C>T	ENST00000317802.7	-	1	847	c.727G>A	c.(727-729)Gac>Aac	p.D243N	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	243					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CGAATGATGTCATTCCTCTGC	0.552000													7	90					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138253513	138253513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:138253513G>A	ENST00000302763.7	+	11	1562	c.1472G>A	c.(1471-1473)tGg>tAg	p.W491*	CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.W388*|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.W491*|CTNNA1_ENST00000540387.1_Nonsense_Mutation_p.W121*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	491					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGAACAATGGGAAAAACAA	0.418000													19	266					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028076	38028076	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:38028076G>A	ENST00000406772.1	+	16	2035	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L	GGA1_ENST00000343632.4_Silent_p.L534L|GGA1_ENST00000381756.5_Silent_p.L551L|GGA1_ENST00000325180.8_Silent_p.L447L|GGA1_ENST00000337437.4_Silent_p.L501L	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	534	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGACCCACTGCCAGGGCGCT	0.632000													12	32					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73406435	73406435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:73406435C>T	ENST00000398809.4	+	14	1900	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	CDH23_ENST00000299366.7_Intron|CDH23_ENST00000398842.3_Missense_Mutation_p.P504S|CDH23_ENST00000461841.3_Missense_Mutation_p.P549S|CDH23_ENST00000224721.6_Intron	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGAGGCACCCAGAGGGATT	0.562000													6	68					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74701745	74701745	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74701745G>A	ENST00000393965.3	-	9	2577	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A	CCDC142_ENST00000290418.4_Silent_p.A720A	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	727										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTTGCCTGAGGGCAAGCCAGG	0.597000													4	37					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160505113	160505113	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160505113C>T	ENST00000356956.1	+	40	6113	c.5965C>T	c.(5965-5967)Cca>Tca	p.P1989S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1989					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGTCTGCCCTCCAAAGAAGTT	0.507000													35	41					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758011	99758011	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99758011G>A	ENST00000360039.4	-	4	1393	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.A334V|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.A272V|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	334					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTATGTCCAGCCTGGGCATT	0.597000													9	142					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113650230	113650230	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:113650230G>A	ENST00000361127.5	+	12	1526	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		LRRCT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGAACACAAGCAGTTTGCTC	0.388000													37	63					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41122838	41122838	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:41122838C>T	ENST00000308370.7	+	23	3057	c.3057C>T	c.(3055-3057)gcC>gcT	p.A1019A	LTBP4_ENST00000396819.3_Silent_p.A952A|LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.A982A|LTBP4_ENST00000545697.1_Intron	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1019	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGTGGAGCCCAGCGTTGTG	0.572000													14	35					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271750	65271750	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65271750G>A	ENST00000534336.1	+	0	6518					NR_002819.2																						GGAGGGATGGGAGGAGGGGGT	0.428000													7	10					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896436	153896436	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:153896436C>T	ENST00000511601.1	+	12	2181	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	FHDC1_ENST00000260008.3_Missense_Mutation_p.P665S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	665					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTCTCTCGCCATTGGCTCT	0.627000													16	10					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877780	53877780	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:53877780G>A	ENST00000267079.2	-	9	1399	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	MAP3K12_ENST00000547035.1_Silent_p.L425L|MAP3K12_ENST00000547488.1_Silent_p.L425L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	392	Leucine-zipper 1.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCAAAGTGCAGTTTTACTTCT	0.537000													7	61					0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54961588	54961588	+	Splice_Site	SNP	G	G	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:54961588G>T	ENST00000395909.4	-	5	609	c.44C>A	c.(43-45)gCt>gAt	p.A15D	AURKA_ENST00000395914.1_Splice_Site_p.A15D|AURKA_ENST00000395907.1_Splice_Site_p.A15D|AURKA_ENST00000371356.2_Splice_Site_p.A15D|AURKA_ENST00000395911.1_Splice_Site_p.A15D|AURKA_ENST00000395915.3_Splice_Site_p.A15D|AURKA_ENST00000312783.6_Splice_Site_p.A15D|AURKA_ENST00000347343.2_Splice_Site_p.A15D|AURKA_ENST00000395913.3_Splice_Site_p.A15D	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TGGAGCTGTAGCCTAGAATGG	0.393000													35	52					1.36161e-19	1.36951e-19	1	1	0
PRSS45	377047	broad.mit.edu	37	3	46784058	46784058	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:46784058G>A	ENST00000442359.2	-	4	468	c.469C>T	c.(469-471)Cca>Tca	p.P157S	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	189	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CAAGCCAATGGCCCTCCAGAA	0.597000													34	59					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967525	48967525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:48967525C>T	ENST00000391884.1	+	2	1278	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L268F			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	268						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TCGTATCTTCCTCGTGTCCCC	0.602000													9	27					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57594895	57594895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57594895G>A	ENST00000243077.3	+	65	10770	c.10304G>A	c.(10303-10305)gGg>gAg	p.G3435E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3435	LDL-receptor class A 23.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCTGCAATGGGCAGGACAAC	0.607000													16	91					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806477	97806477	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:97806477G>A	ENST00000358642.2	+	1	461	c.461G>A	c.(460-462)gGt>gAt	p.G154D		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATGTAATTGGTTTCCTGCAT	0.378000													76	135					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458140	27458140	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27458140G>A	ENST00000264705.4	+	24	3976	c.3814G>A	c.(3814-3816)Gcg>Acg	p.A1272T	CAD_ENST00000403525.1_Missense_Mutation_p.A1209T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1272	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCCCGCTTGGCGGGTGCTGA	0.617000													13	63					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12060052	12060052	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:12060052G>A	ENST00000053243.1	+	2	349	c.131G>A	c.(130-132)aGt>aAt	p.S44N	TNFRSF17_ENST00000396495.3_Intron|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	44					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TTTCATAAAGGTGTGACCAAT	0.323000			T	IL2	intestinal T-cell lymphoma								29	63					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816160	82816160	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:82816160G>A	ENST00000265077.3	+	7	2600	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E679K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E631K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	679	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTACAAACAGAAATGACACA	0.328000													4	44					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582214	120582214	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:120582214G>A	ENST00000300648.6	-	42	5403	c.5391C>T	c.(5389-5391)gcC>gcT	p.A1797A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1797					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCGCGCAGGGCGGTGTCAC	0.612000													14	29					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432837	55432837	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:55432837C>T	ENST00000314259.3	+	1	224	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTTCTTGTCCCTTTTGGATG	0.448000													41	59					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33790554	33790554	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:33790554C>T	ENST00000530401.1	-	3	206	c.186G>A	c.(184-186)gaG>gaA	p.E62E	FBXO3_ENST00000534136.1_Silent_p.E67E|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000265651.3_Silent_p.E67E|FBXO3_ENST00000448981.2_Silent_p.E67E|FBXO3_ENST00000526785.1_5'UTR			Q9UK99	FBX3_HUMAN	F-box protein 3	67					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCTGTGTTTTCTCTTCCCTAA	0.303000													57	188					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123624963	123624963	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123624963G>A	ENST00000373896.3	-	11	1285	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	PHF19_ENST00000419155.1_Missense_Mutation_p.P136S|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCGGGTTGGGTGGGACGCGG	0.597000													51	100					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190726	17190726	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:17190726C>T	ENST00000265970.7	-	1	562	c.563G>A	c.(562-564)aGt>aAt	p.S188N	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	188					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TCCCGGAAGACTTAAATATAT	0.408000													8	38					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167365569	167365569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:167365569G>A	ENST00000367862.5	+	10	1236	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.S322N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S345N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S322N|POU2F1_ENST00000429375.2_Missense_Mutation_p.S282N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	322	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AATGACTTCAGCCAAACTACC	0.443000													48	91					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994236	56994236	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56994236G>A	ENST00000179765.5	-	25	4750	c.4551C>T	c.(4549-4551)gaC>gaT	p.D1517D	BAZ2A_ENST00000549884.1_Silent_p.D1547D|BAZ2A_ENST00000551812.1_Silent_p.D1549D|BAZ2A_ENST00000379441.3_Silent_p.D1519D			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1549					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTAGGCCAAGTCTTCACGGG	0.517000													13	51					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43695127	43695127	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:43695127G>A	ENST00000395809.1	-	7	3352	c.846C>T	c.(844-846)tgC>tgT	p.C282C	RASGEF1A_ENST00000395810.1_Silent_p.C282C|RASGEF1A_ENST00000374459.1_Silent_p.C290C			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	282	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CACTTACCCGGCACACCTCAG	0.577000													10	24					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265937	75265937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75265937G>A	ENST00000325680.7	+	5	4061	c.3937G>A	c.(3937-3939)Ggg>Agg	p.G1313R	YLPM1_ENST00000238571.3_Missense_Mutation_p.G1118R|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGAGATTATGGGAGACCACT	0.453000													9	29					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13769421	13769421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:13769421G>A	ENST00000380567.1	+	11	1441	c.569G>A	c.(568-570)aGa>aAa	p.R190K	OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_Missense_Mutation_p.R330K|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R330K			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	330					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCACTTAGGAGACAGGAGCAG	0.323000													36	61					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185798962	185798962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185798962C>T	ENST00000306376.5	-	6	481	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	ETV5_ENST00000434744.1_Missense_Mutation_p.V79M|ETV5_ENST00000537818.1_Missense_Mutation_p.V121M	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	79					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCATGAAGCACCACTGAAATC	0.507000			T	"""TMPRSS2, SCL45A3"""	Prostate								4	93					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966553	41966553	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:41966553G>A	ENST00000298919.7	+	10	1580	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E400K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E658K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	658							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAATCAAGGGGAGCAAGAGGG	0.443000													4	84					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307089	120307089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:120307089C>T	ENST00000369406.3	-	2	314	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G89S|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	89					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CGGGTCTGGCCCAAGCCCACT	0.552000													4	103					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764166	169764166	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:169764166C>T	ENST00000375363.3	+	5	737	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	215					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TCTTTCTCTTCCTGTTTGCAG	0.532000													5	97					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545736	211545736	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:211545736G>A	ENST00000261464.5	+	11	1420	c.1366G>A	c.(1366-1368)Ggg>Agg	p.G456R	TRAF5_ENST00000367004.3_Missense_Mutation_p.G456R|TRAF5_ENST00000427925.2_Missense_Mutation_p.G350R|TRAF5_ENST00000336184.2_Missense_Mutation_p.G456R	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	456	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G456R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTCAGGGAGGGGGTCACACCT	0.567000													7	45					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6646862	6646862	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:6646862G>A	ENST00000299441.3	-	18	7239	c.6828C>T	c.(6826-6828)acC>acT	p.T2276T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2276	Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGGGGGATGGTGGGGCGAT	0.592000													3	47					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50694543	50694543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:50694543C>T	ENST00000403097.1	-	7	1399	c.619G>A	c.(619-621)Gag>Aag	p.E207K	GRB10_ENST00000398810.2_Missense_Mutation_p.E155K|GRB10_ENST00000406641.1_Missense_Mutation_p.E155K|GRB10_ENST00000335866.3_Missense_Mutation_p.E155K|GRB10_ENST00000402497.1_Missense_Mutation_p.E155K|GRB10_ENST00000357271.5_Missense_Mutation_p.E213K|GRB10_ENST00000407526.1_Missense_Mutation_p.E155K|GRB10_ENST00000401949.1_Missense_Mutation_p.E213K|GRB10_ENST00000439599.1_Missense_Mutation_p.E207K|GRB10_ENST00000398812.2_Missense_Mutation_p.E213K|GRB10_ENST00000402578.1_Missense_Mutation_p.E155K			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	213	Ras-associating.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGGTGGTGCTCCACTAGTGTC	0.498000									Russell-Silver syndrome				4	176					0	0	1	0	0
CCDC115	84317	broad.mit.edu	37	2	131099635	131099635	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:131099635C>T	ENST00000259229.2	-	1	287	c.64G>A	c.(64-66)Gag>Aag	p.E22K	CCDC115_ENST00000437688.2_Intron|CCDC115_ENST00000409127.1_Intron	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	22						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TCCAGCTCCTCCAGGTCCCCA	0.647000													17	35					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78081598	78081598	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78081598G>A	ENST00000302262.3	+	5	1077		c.e5-1		GAA_ENST00000390015.3_Splice_Site	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid						cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCATGTCCCAGCCCGGTGCGA	0.682000													4	13					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52538808	52538808	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52538808C>T	ENST00000321725.6	+	12	1369	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	431	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCAGCACATCCTGGAGGACA	0.617000													4	35					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875210	18875210	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:18875210G>A	ENST00000406451.4	+	20	2727		c.e20+1		HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000432645.2_Splice_Site	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCAAATGAGGTTCGGTTTAT	0.428000													13	42					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018484	101018484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:101018484C>T	ENST00000537247.1	+	10	2543	c.1589C>T	c.(1588-1590)aCt>aTt	p.T530I	GAS2L3_ENST00000547754.1_Missense_Mutation_p.T634I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T634I|GAS2L3_ENST00000539410.1_Missense_Mutation_p.T634I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	634					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCAGCACAGACTGTCGCTAAG	0.527000													7	53					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768026	57768026	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:57768026G>A	ENST00000371030.2	+	1	1952	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	651						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGGAATGGGCAGTGGGGCA	0.567000													5	59					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411625	2411625	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2411625C>T	ENST00000202625.2	+	12	1980	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	640					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AAGGACTGTGCGCTGATGGTG	0.592000													26	61					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102474087	102474087	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102474087G>A	ENST00000321521.9	+	5	974		c.e5-1		PPIP5K2_ENST00000414217.1_Splice_Site|PPIP5K2_ENST00000513500.1_Splice_Site|PPIP5K2_ENST00000358359.3_Splice_Site			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2						inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTTCTTCAGGAGAGAAGTA	0.308000													7	27					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11783417	11783417	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:11783417G>A	ENST00000262442.4	+	54	10569	c.10501G>A	c.(10501-10503)Gcc>Acc	p.A3501T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3501T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATAGAGCAGGCCCTGGAAGC	0.478000													4	96					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179095709	179095709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179095709G>A	ENST00000502732.1	-	4	693	c.490C>T	c.(490-492)Cca>Tca	p.P164S	ABL2_ENST00000504405.1_Missense_Mutation_p.P128S|ABL2_ENST00000511413.1_Missense_Mutation_p.P164S|ABL2_ENST00000367623.4_Missense_Mutation_p.P143S|ABL2_ENST00000507173.1_Missense_Mutation_p.P143S|ABL2_ENST00000392043.3_Missense_Mutation_p.P143S|ABL2_ENST00000512653.1_Missense_Mutation_p.P149S|ABL2_ENST00000344730.3_Missense_Mutation_p.P149S|ABL2_ENST00000408940.3_Missense_Mutation_p.P128S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	164	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTGTTCACTGGGGTGATGTAG	0.517000			T	ETV6	AML								32	66					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94956759	94956759	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:94956759G>A	ENST00000370214.4	+	16	1366	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T	ABCD3_ENST00000394233.2_Missense_Mutation_p.A338T|ABCD3_ENST00000536817.1_Missense_Mutation_p.A375T|ABCD3_ENST00000454898.2_Missense_Mutation_p.A472T|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	448	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTCCTTTAGCAACGCCAAA	0.264000													6	71					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566310	129566310	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:129566310G>A	ENST00000422113.2	-	7	2243	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	TMEM132D_ENST00000389441.4_Silent_p.T177T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	639						integral to membrane		p.T639T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTACCTGAATGGTGGTCATCC	0.493000													9	44					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723817	126723817	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:126723817C>T	ENST00000393409.2	+	5	1709	c.1709C>T	c.(1708-1710)cCc>cTc	p.P570L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P547L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	570					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGTGCAGCCCCGCAATGTG	0.657000													6	36					0	0	1	0	0
RGMB	285704	broad.mit.edu	37	5	98129041	98129041	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:98129041G>A	ENST00000308234.7	+	5	1423	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	RGMB_ENST00000513185.1_Missense_Mutation_p.A300T	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	300					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGAAGACCTGGCCATGTCCTA	0.612000													4	18					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969103	10969103	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:10969103C>T	ENST00000361285.4	-	7	474	c.145G>A	c.(145-147)Gca>Aca	p.A49T	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	49					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)		ACCCGGGCTGCTCCTTTAAAT	0.463000													7	179					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103460029	103460029	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:103460029C>T	ENST00000602836.1	+	1	326	c.326C>T	c.(325-327)aCc>aTc	p.T109I	BIVM_ENST00000257336.1_Missense_Mutation_p.P138S|BIVM_ENST00000419638.1_Missense_Mutation_p.P138S|BIVM_ENST00000448849.2_Intron	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GGGCAAGCTACCTCTCGCATG	0.388000													26	35					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95595446	95595446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:95595446C>T	ENST00000393223.3	-	6	793	c.131G>A	c.(130-132)aGc>aAc	p.S44N	MTMR2_ENST00000409459.1_Missense_Mutation_p.S44N|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.S44N|MTMR2_ENST00000346299.5_Missense_Mutation_p.S116N	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	116	Ser-rich.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGTTCCATGCTTTTGAAATA	0.348000													17	34					0	0	1	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633218	153633218	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153633218G>A	ENST00000369809.1	-	6	891	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.P88S	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	88					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCAGCTGGGGGCTGCTCAGG	0.637000													14	42					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034543	150034543	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150034543C>T	ENST00000359623.4	+	3	1181	c.593C>T	c.(592-594)cCc>cTc	p.P198L	LRRC61_ENST00000323078.7_Missense_Mutation_p.P198L|LRRC61_ENST00000493307.1_Missense_Mutation_p.P198L	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	198										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GAGGCCCAGCCCTGGGTGGAG	0.667000													11	28					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65351736	65351736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:65351736C>T	ENST00000220062.4	-	3	457	c.181G>A	c.(181-183)Gag>Aag	p.E61K	RASL12_ENST00000421977.3_Missense_Mutation_p.E42K|RASL12_ENST00000434605.2_Missense_Mutation_p.E50K	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	61					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.E61L(1)		lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCACAGTCTCCTCGGAGCTG	0.537000													8	20					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132630370	132630370	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:132630370G>A	ENST00000315480.4	+	11	935	c.777G>A	c.(775-777)gaG>gaA	p.E259E	USP20_ENST00000358355.1_Silent_p.E259E|USP20_ENST00000372429.3_Silent_p.E259E			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	259					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGCTGACGGAGGCTCGGGACT	0.617000													9	84					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50594494	50594494	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:50594494C>T	ENST00000312942.1	+	2	963	c.723C>T	c.(721-723)agC>agT	p.S241S	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	241						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		AATGCTATAGCTTTGAAAGGA	0.378000													3	45					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12974230	12974230	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:12974230G>A	ENST00000358007.3	+	3	292	c.270G>A	c.(268-270)ccG>ccA	p.P90P	DDX47_ENST00000352940.4_Silent_p.P90P|DDX47_ENST00000392155.2_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	90	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGGAGACCCCGCAGCGTTTGT	0.522000													86	151					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776264	2776264	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:2776264G>A	ENST00000380605.2	-	11	1765	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	567					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCGTGTGCCAGTCAGCCCCGT	0.632000													14	32					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228535	204228535	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:204228535C>T	ENST00000272203.3	-	8	1174	c.858G>A	c.(856-858)ccG>ccA	p.P286P	PLEKHA6_ENST00000414478.1_Silent_p.P306P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	286	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CATCCTGAGACGGGAAAGCTG	0.642000													5	78					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76617408	76617408	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:76617408C>T	ENST00000369981.3	+	32	3572	c.3293C>T	c.(3292-3294)aCc>aTc	p.T1098I	MYO6_ENST00000369985.4_Missense_Mutation_p.T1065I|MYO6_ENST00000369977.3_Missense_Mutation_p.T1088I|MYO6_ENST00000369975.1_Missense_Mutation_p.T1065I			Q9UM54	MYO6_HUMAN	myosin VI	1097					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTACGTGATACCATCAATACT	0.368000													16	41					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695497	30695497	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:30695497G>A	ENST00000256246.2	-	3	7228	c.7154C>T	c.(7153-7155)cCa>cTa	p.P2385L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2385										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACCTTTTTTGGCGTTAAATG	0.388000													4	190					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26901738	26901738	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26901738G>A	ENST00000226253.4	-	5	991	c.516C>T	c.(514-516)gcC>gcT	p.A172A	ALDOC_ENST00000395321.2_Silent_p.A172A|ALDOC_ENST00000395319.3_Silent_p.A172A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	172					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGGCATAACGGGCCAGCACGT	0.557000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	26					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2934123	2934123	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:2934123C>T	ENST00000329687.4	-	5	1182	c.648G>A	c.(646-648)ctG>ctA	p.L216L	MFSD10_ENST00000355443.4_Silent_p.L216L|MFSD10_ENST00000507555.1_Silent_p.L216L|MFSD10_ENST00000514800.1_Silent_p.L216L|MFSD10_ENST00000508221.1_Silent_p.L216L	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	216					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGATGAACAGCAGGTCGG	0.627000													12	21					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9490165	9490165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9490165G>A	ENST00000402466.1	+	17	2671	c.1903G>A	c.(1903-1905)Gca>Aca	p.A635T	SETD5_ENST00000302463.6_Missense_Mutation_p.A635T|SETD5_ENST00000402198.1_Missense_Mutation_p.A733T|SETD5_ENST00000406341.1_Missense_Mutation_p.A733T|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A752T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	733										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AACTGTACTGGCAACGACCCT	0.463000													23	41					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115215	220115215	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220115215C>T	ENST00000392088.2	-	4	1716	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	TUBA4A_ENST00000248437.4_Silent_p.R402R	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	402					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACAAACGCCCTCTTGGCAT	0.617000													11	134					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64621912	64621912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64621912C>T	ENST00000320631.3	-	5	1752	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	EHD1_ENST00000359393.2_Missense_Mutation_p.E500K|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	500	EF-hand.|EH.				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGCGCGAACTCCTCGTCGTCC	0.647000													21	38					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43174674	43174674	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:43174674G>A	ENST00000509634.1	+	7	1665	c.1209G>A	c.(1207-1209)agG>agA	p.R403R	ZNF131_ENST00000306938.4_Silent_p.R403R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.R437R|ZNF131_ENST00000505606.2_Silent_p.R403R|ZNF131_ENST00000399534.1_Silent_p.R437R			P52739	ZN131_HUMAN	zinc finger protein 131	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AATTAAGGAGGCATCTCAGTG	0.393000													4	75					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32420966	32420966	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:32420966G>A	ENST00000309951.6	+	8	1049	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ACO1_ENST00000379923.1_Missense_Mutation_p.G304E|ACO1_ENST00000541043.1_Missense_Mutation_p.G205E	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CCAGAGTACGGAGCAACTGCT	0.498000													116	205					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022304	120022304	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:120022304G>A	ENST00000379551.2	+	3	1103	c.746G>A	c.(745-747)aGt>aAt	p.S249N	PRR16_ENST00000407149.2_Missense_Mutation_p.S272N|PRR16_ENST00000446965.1_Missense_Mutation_p.S202N|PRR16_ENST00000505123.1_Missense_Mutation_p.S202N	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	272	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ATAAGCCACAGTAACAGCTTC	0.547000													16	27					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468700	64468700	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:64468700G>A	ENST00000358025.3	+	29	3917	c.3687G>A	c.(3685-3687)aaG>aaA	p.K1229K	SYNE2_ENST00000554584.1_Silent_p.K1229K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.K1229K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1229					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTAGAGAAGGCATCACTTC	0.473000													50	64					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219688572	219688572	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219688572G>A	ENST00000439262.2	-	13	1403	c.1308C>T	c.(1306-1308)acC>acT	p.T436T	PRKAG3_ENST00000545803.1_Silent_p.T277T|PRKAG3_ENST00000529249.1_Silent_p.T461T	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	461	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.T461T(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGATGCTGGGTCTCGTCCA	0.612000													5	68					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658131	46658131	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:46658131G>A	ENST00000253255.5	-	1	1088	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	363	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCATCTGGGTCCGAGGACG	0.552000													5	147					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44422303	44422303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:44422303G>A	ENST00000372343.3	+	4	1696	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	345					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTCTGCACAGGCATCCCTGGC	0.542000													10	93					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	659026	659026	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:659026G>A	ENST00000266383.5	+	10	958	c.945G>A	c.(943-945)gaG>gaA	p.E315E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	315						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCAGGGATGAGCAGCCGCCCG	0.637000													4	45					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675624	54675624	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54675624G>A	ENST00000546500.1	+	3	793	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	HNRNPA1_ENST00000340913.6_Missense_Mutation_p.V60I|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.V60I|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.V60I			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	60	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.V60L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTTTGGGTTTGTCACATATGC	0.473000													4	48					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591059	11591059	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:11591059G>A	ENST00000294484.6	+	16	3336	c.3198G>A	c.(3196-3198)gtG>gtA	p.V1066V	PTCHD2_ENST00000389575.3_Silent_p.V1066V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1066					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGAGCTGGTGAAGCCGGGTG	0.617000													44	72					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14599955	14599955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:14599955G>A	ENST00000544627.1	+	6	2307	c.1987G>A	c.(1987-1989)Gca>Aca	p.A663T	ATF7IP_ENST00000536444.1_Missense_Mutation_p.A654T|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A655T|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A654T|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A655T			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	655	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACGCTTTGAAGCAGCCAAAGA	0.284000													6	57					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230947	21230947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:21230947C>T	ENST00000233242.1	-	26	8920	c.8793G>A	c.(8791-8793)tgG>tgA	p.W2931*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2931					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGGCAGGCCCATTTCCATG	0.468000													10	149					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74628367	74628367	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74628367G>A	ENST00000398814.3	+	19	2672	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000558821.1_3'UTR|CCDC33_ENST00000321288.5_Intron	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	950							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCCCCCAGAAGGAGACCGCTA	0.587000													15	24					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61889292	61889292	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61889292G>A	ENST00000578681.1	+	15	2000	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	DDX42_ENST00000457800.2_Splice_Site_p.A467T|DDX42_ENST00000359353.5_Splice_Site_p.A348T|DDX42_ENST00000583590.1_Splice_Site_p.A467T|DDX42_ENST00000389924.2_Splice_Site_p.A467T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	467					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCTTCTCAGGCAAATGAAGA	0.453000													121	277					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940444	1940444	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:1940444G>A	ENST00000543818.1	+	4	1253	c.411G>A	c.(409-411)cgG>cgA	p.R137R	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Silent_p.R137R|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000299194.1_Silent_p.R137R	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	137						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ACCTGCTGCGGCACTCGCCGC	0.652000													5	98					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33632369	33632369	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33632369G>A	ENST00000252015.2	-	7	893	c.804C>T	c.(802-804)gcC>gcT	p.A268A	TRPC4AP_ENST00000451813.2_Silent_p.A268A|TRPC4AP_ENST00000432634.2_Silent_p.A229A			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	268	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGCATTTTTGGCAAGAAGCG	0.443000													7	133					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33132085	33132085	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:33132085C>T	ENST00000341947.2	-	65	5256	c.5029G>A	c.(5029-5031)Gag>Aag	p.E1677K	COL11A2_ENST00000374714.1_Missense_Mutation_p.E1651K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E1591K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E1617K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E1570K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E1656K|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.E1596K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E1630K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1677	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGCTAGTCTCCGGGCTCAGC	0.617000													3	34					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49050919	49050919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:49050919C>T	ENST00000267163.4	+	25	2741	c.2603C>T	c.(2602-2604)cCt>cTt	p.P868L	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	868	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAAGCAACCCTCCTAAACCA	0.408000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			3	48					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38269187	38269187	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:38269187G>A	ENST00000399120.1	-	7	2654	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	HLCS_ENST00000336648.4_Missense_Mutation_p.T475I|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	475					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGTTGTGGGGGTCACTTCGGC	0.478000													16	34					0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8949045	8949045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:8949045C>T	ENST00000396593.2	-	4	779	c.420G>A	c.(418-420)tgG>tgA	p.W140*	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000311052.5_Nonsense_Mutation_p.W140*|CARHSP1_ENST00000561530.1_Nonsense_Mutation_p.W140*|CARHSP1_ENST00000567554.1_Nonsense_Mutation_p.W140*	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	140					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						CATGTCCAGACCAGGTCTCAT	0.557000													17	18					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49083453	49083453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:49083453G>A	ENST00000376265.2	-	9	1316	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P419S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P354S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	419					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCGGCGGAGGGGTCCTCCATG	0.607000													12	15					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105677247	105677247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105677247C>T	ENST00000224950.3	-	2	273	c.106G>A	c.(106-108)Gac>Aac	p.D36N	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D36N	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	36					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCTTCATGTCCAGGATATCC	0.567000													14	22					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187181	7187181	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7187181G>A	ENST00000317370.8	+	4	716	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Splice_Site_p.G140R|SLC2A4_ENST00000571308.1_Splice_Site_p.G150R	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	150					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCCTACTCAGGTACTCACGG	0.597000													11	28					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32150526	32150526	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:32150526G>A	ENST00000375250.5	-	4	986	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	ARHGAP12_ENST00000375245.4_Silent_p.L249L|ARHGAP12_ENST00000311380.4_Silent_p.L249L|ARHGAP12_ENST00000344936.2_Silent_p.L249L|ARHGAP12_ENST00000396144.4_Silent_p.L249L	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	249					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GATATTTTCAGTTCTTGAAGG	0.433000													25	50					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650090	39650090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:39650090G>A	ENST00000216832.4	+	9	1244	c.1177G>A	c.(1177-1179)Gtt>Att	p.V393I	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	393	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GCTAGAGATGGTTGAGAATGT	0.418000													14	39					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51875345	51875345	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:51875345C>T	ENST00000371733.3	-	14	1233	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Silent_p.R56R|EPS15_ENST00000371730.2_Silent_p.R379R	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	379					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TAGTATTCTCCCTTTGAACTT	0.398000			T	MLL	ALL								6	92					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725692	30725692	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:30725692G>A	ENST00000361762.2	+	1	3656	c.2648G>A	c.(2647-2649)gGc>gAc	p.G883D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G883D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	883					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTGTCATTGGCGTGGTTGCT	0.438000													19	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614382	179614382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179614382C>T	ENST00000360870.5	-	46	12967	c.12745G>A	c.(12745-12747)Gag>Aag	p.E4249K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	6911							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGACAGGCTCCACTGTTAGA	0.338000													42	72					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1484455	1484455	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:1484455C>T	ENST00000297508.7	-	6	1426	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	MICALL2_ENST00000405088.4_Silent_p.R205R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	417						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AAAACTTATTCCGGGCCTGCT	0.612000													7	17					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42446309	42446309	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:42446309G>A	ENST00000397272.3	-	4	522	c.431C>T	c.(430-432)aCc>aTc	p.T144I	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.T144I	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	144					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGTGGGAAGGTGTGTTTGTG	0.617000													18	62					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812376	133812376	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:133812376G>A	ENST00000285928.2	+	1	325	c.256G>A	c.(256-258)Gga>Aga	p.G86R	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	86							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGGCGAGGCGGGATCCGAGGA	0.612000													10	66					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387536	30387536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30387536C>T	ENST00000322861.7	+	3	248	c.167C>T	c.(166-168)gCc>gTc	p.A56V		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	56	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			ACCTTCGCAGCCATGGGTGAG	0.592000													15	25					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182339717	182339717	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:182339717C>T	ENST00000397033.2	+	3	780	c.350C>T	c.(349-351)aCt>aTt	p.T117I	ITGA4_ENST00000339307.4_Missense_Mutation_p.T117I|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	117					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTGGAAAGACTTGTTTGGAA	0.418000													4	41					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138185	203138185	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:203138185G>A	ENST00000255416.4	-	9	1323	c.1266C>T	c.(1264-1266)atC>atT	p.I422I		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	422	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGTTGCCCTGGATCTCCATCT	0.567000													4	108					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40666344	40666344	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:40666344C>T	ENST00000343619.4	+	21	2409	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	ATP6V0A1_ENST00000264649.6_Silent_p.I763I|ATP6V0A1_ENST00000585525.1_Silent_p.I719I|ATP6V0A1_ENST00000546249.1_Silent_p.I762I|ATP6V0A1_ENST00000393829.2_Silent_p.I756I|ATP6V0A1_ENST00000537728.1_Silent_p.I713I|ATP6V0A1_ENST00000544137.1_Silent_p.I408I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	762					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGATCCACATCGGCCTGAGCG	0.557000													78	111					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33796962	33796962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33796962C>T	ENST00000257118.5	-	11	2043	c.1990G>A	c.(1990-1992)Gct>Act	p.A664T	PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	664					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTGCACAAGCCATGGAACAG	0.547000													6	125					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120277331	120277331	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:120277331G>A	ENST00000369407.3	+	5	1990	c.483G>A	c.(481-483)gaG>gaA	p.E161E	PHGDH_ENST00000369409.4_Silent_p.E195E			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	195					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCCTGGAGGAGATCTGGCCTC	0.547000													52	107					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655340	139655340	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:139655340C>T	ENST00000263552.6	+	11	1163	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	TBXAS1_ENST00000416849.2_Missense_Mutation_p.P255S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P254S|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P208S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P141S	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	208					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTGAGGATCCCTTTGTGAA	0.577000													41	127					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70779241	70779241	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:70779241C>T	ENST00000373719.3	+	13	1944	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	OGT_ENST00000373701.3_Missense_Mutation_p.S566F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	576					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTATGCAGTCTATTCCAGGC	0.398000													35	56					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896611	124896611	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:124896611C>T	ENST00000423114.2	-	5	684	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	SLC12A8_ENST00000393469.4_Missense_Mutation_p.G200S|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G200S			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	200					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTGAAAGAACCCACCACAAAG	0.527000													11	17					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100668318	100668318	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100668318C>T	ENST00000316594.5	+	2	1420	c.1342C>T	c.(1342-1344)Ctt>Ttt	p.L448F		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	448					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCAGTCAAACCTTGCTTAGGT	0.438000													61	126					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34826434	34826434	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:34826434G>A	ENST00000265109.3	+	16	2936		c.e16-1		RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTGCCCCTAGATAAATGAGA	0.423000													17	42					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75278435	75278435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:75278435C>T	ENST00000305249.5	-	4	1640	c.875G>A	c.(874-876)tGg>tAg	p.W292*	TACR1_ENST00000409848.3_Nonsense_Mutation_p.W292*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CATGGCCAGCCACATGATGGC	0.547000													32	75					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223031	25223031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:25223031C>T	ENST00000444203.2	+	6	1578	c.539C>T	c.(538-540)cCc>cTc	p.P180L	SNRPN_ENST00000400100.1_Missense_Mutation_p.P176L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P176L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P176L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P176L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.P176L|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000554227.2_Missense_Mutation_p.P180L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P176L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	176	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGCACTCCGCCCCCACCCGTC	0.562000									Prader-Willi syndrome				8	26					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955773	32955773	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:32955773C>T	ENST00000399302.2	+	4	2917	c.2582C>T	c.(2581-2583)gCt>gTt	p.A861V	QSER1_ENST00000527788.1_Missense_Mutation_p.A622V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	861										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGCAGCAGCTTGTGGAGTT	0.383000													38	131					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383317	12383317	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:12383317C>T	ENST00000356109.5	-	5	2015	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	ZNF44_ENST00000355684.5_Missense_Mutation_p.E585K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TAGGGCTTCTCTCCAGTGTGA	0.413000													5	59					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37170386	37170386	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:37170386G>A	ENST00000274258.7	-	33	6446	c.2859C>T	c.(2857-2859)tcC>tcT	p.S953S	C5orf42_ENST00000508244.1_Silent_p.S2073S|C5orf42_ENST00000425232.2_Silent_p.S2073S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2073										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATTAGCAAAGGATGATCCTA	0.368000													12	101					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36962479	36962479	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:36962479G>A	ENST00000300105.6	-	3	1338	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	119					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGATGCAGAGGCCACCCATGA	0.542000													26	31					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407444	110407444	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:110407444G>A	ENST00000344895.3	+	0	55				TSLP_ENST00000420978.2_Intron	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin							extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAACAGCATGGGTGAATAAGG	0.522000													3	12					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V|TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCCAGACGGAAACCGTAGCTG	0.612000		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)			62	9					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740583	39740583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:39740583C>T	ENST00000167586.6	-	3	777	c.691G>A	c.(691-693)Gcc>Acc	p.A231T		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	231	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCAGCTCTGGCCAGGGTCAGT	0.547000													4	153					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48533206	48533206	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:48533206C>T	ENST00000358350.4	-	50	7474	c.6870G>A	c.(6868-6870)ggG>ggA	p.G2290G	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.G2290G|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.G2290G	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2290					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTAAGGTCTTCCCAGGCAACT	0.338000													31	64					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58486891	58486891	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:58486891G>A	ENST00000357552.3	-	14	1111	c.886C>T	c.(886-888)Cca>Tca	p.P296S	SYCP2_ENST00000371001.2_Missense_Mutation_p.P296S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	296					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCATCTGATGGTATTTGCAGC	0.289000													4	47					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44662036	44662036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44662036C>T	ENST00000426739.2	+	6	2125	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	ZNF234_ENST00000592437.1_Missense_Mutation_p.P623S	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGAGAGAAACCATACAAATG	0.448000													42	71					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33876755	33876755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:33876755C>T	ENST00000374408.3	-	2	616	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	174										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCACCACAGCCACCACCTGG	0.622000													26	46					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGAGCAGGGCGAAGCTGTGG	0.557000													28	49					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117666	11117666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:11117666C>T	ENST00000304623.8	-	13	2362	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A725T|CTNND2_ENST00000511377.1_Missense_Mutation_p.A634T|CTNND2_ENST00000458100.2_Missense_Mutation_p.A292T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A388T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	725				A -> P (in Ref. 1; AAC63103).	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCTCTCCGGCCGAACTAACA	0.522000													26	45					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875015	45875015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:45875015G>A	ENST00000311275.7	-	14	2214	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A602V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A674V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A674V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A591V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A649V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A649V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A681V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A654V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A674V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A649V	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	654							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTTCTCGCTGGCTGGTGACGT	0.507000													76	130					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122811272	122811272	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:122811272C>T	ENST00000316218.7	+	3	335	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	80					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AAGGGACCATCTGCTGGGTGG	0.527000													14	30					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38793470	38793470	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:38793470C>T	ENST00000310803.5	-	13	1734	c.1557G>A	c.(1555-1557)agG>agA	p.R519R	RASGRP1_ENST00000559830.1_Silent_p.R484R|RASGRP1_ENST00000558164.1_Silent_p.R484R|RASGRP1_ENST00000450598.2_Silent_p.R484R|RASGRP1_ENST00000539159.1_Silent_p.R471R|RASGRP1_ENST00000561180.1_Silent_p.R570R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	519	EF-hand 2.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGATCTCATCCCTGCTGATGA	0.547000													22	39					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14340939	14340939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:14340939G>A	ENST00000571589.1	+	12	1994	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	MKL2_ENST00000574045.1_Missense_Mutation_p.G608R|MKL2_ENST00000341243.5_Missense_Mutation_p.G597R|MKL2_ENST00000318282.5_Missense_Mutation_p.G608R	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	597					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAAACGAGGGCAGCAGCA	0.527000													18	22					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1643195	1643195	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:1643195C>T	ENST00000252804.4	-	20	4003		c.e20-1			NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						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			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)		GTCCTACAGTCTAAAATGGAA	0.507000													23	39					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61959728	61959728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:61959728C>T	ENST00000422202.1	+	33	3766	c.3698C>T	c.(3697-3699)cCc>cTc	p.P1233L	COL20A1_ENST00000326996.6_Missense_Mutation_p.P1252L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1233L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1220L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1220					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCAGGCCCCCCATGCCCATC	0.667000													6	15					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603129	140603129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140603129C>T	ENST00000239449.4	+	1	52	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		18					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTAATATTCCTTGTTTTGCT	0.458000													4	56					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539503	94539503	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:94539503G>A	ENST00000289495.5	+	1	294	c.78G>A	c.(76-78)gaG>gaA	p.E26E	PPP1R9A_ENST00000340694.4_Silent_p.E26E|PPP1R9A_ENST00000433360.1_Silent_p.E26E|PPP1R9A_ENST00000456331.2_Silent_p.E26E|PPP1R9A_ENST00000424654.1_Silent_p.E26E|PPP1R9A_ENST00000433881.1_Silent_p.E26E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	26	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCGAACTGAGTTTCAGGCAC	0.468000										HNSCC(28;0.073)			12	49					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419205	88419205	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:88419205G>A	ENST00000372071.2	+	6	1040	c.813G>A	c.(811-813)agG>agA	p.R271R	OPN4_ENST00000241891.5_Silent_p.R260R	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	260					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TCATCTTCAGGGCCATCCGGG	0.632000													10	12					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65681686	65681686	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:65681686C>T	ENST00000352385.2	-	14	2681	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	824	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGTGAGACTGCACTGCAA	0.572000													9	34					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643815	138643815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:138643815C>T	ENST00000218099.2	+	8	978	c.971C>T	c.(970-972)cCc>cTc	p.P324L	F9_ENST00000394090.2_Missense_Mutation_p.P286L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	324	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CTGGACGAACCCTTAGTGCTA	0.423000													37	86					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623169	61623169	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:61623169C>T	ENST00000583023.1	+	14	2902	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	KCNH6_ENST00000314672.5_Missense_Mutation_p.S928F|KCNH6_ENST00000581784.1_Missense_Mutation_p.S875F|KCNH6_ENST00000456941.2_Missense_Mutation_p.S875F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	964					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCCTGCTTCTCCTCCCTCCCT	0.577000													22	55					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5948338	5948338	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:5948338G>A	ENST00000379999.5	+	4	753	c.649G>A	c.(649-651)Gca>Aca	p.A217T	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A166T	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	166					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGGCAAGAAGCAGAGGACAG	0.582000													10	32					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024193	24024193	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:24024193C>T	ENST00000328046.8	-	3	873	c.618G>A	c.(616-618)cgG>cgA	p.R206R		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	206	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TTCTATCATGCCGCAGCCAAG	0.468000													10	261					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32032624	32032624	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:32032624C>T	ENST00000375244.3	-	19	7016	c.6815G>A	c.(6814-6816)gGc>gAc	p.G2272D	TNXB_ENST00000375247.2_Missense_Mutation_p.G2272D			P22105	TENX_HUMAN	tenascin XB	2344	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGACACGGGGCCCACGCGCTG	0.592000													17	31					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541789	70541789	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:70541789G>A	ENST00000310961.5	+	24	4438	c.4020G>A	c.(4018-4020)ggG>ggA	p.G1340G	LRRC7_ENST00000415775.2_Silent_p.G666G|LRRC7_ENST00000035383.5_Silent_p.G1382G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1382						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGTTGATGGGGTCCCAAAGCC	0.478000													18	34					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78857751	78857751	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:78857751C>T	ENST00000306801.3	+	16	2183	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	607					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTACAGCCTCCTCTCCGACC	0.667000													17	25					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49142215	49142215	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:49142215C>T	ENST00000084798.4	-	8	1570	c.891G>A	c.(889-891)agG>agA	p.R297R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	297						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		CCCTCAGTGCCCTGTGGGCCA	0.647000													4	7					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915660	39915660	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:39915660C>T	ENST00000425673.1	+	17	4125	c.3800C>T	c.(3799-3801)cCt>cTt	p.P1267L	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1296L|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1296					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCAGGGGCCTGGGGGAGGG	0.716000													4	46					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232379	71232379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:71232379G>A	ENST00000226460.4	+	3	169	c.73G>A	c.(73-75)Ggc>Agc	p.G25S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	25						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GAGTCAAAGAGGCCCCAGGGG	0.453000													4	61					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089185	42089185	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:42089185G>A	ENST00000244020.3	+	5	727	c.621G>A	c.(619-621)agG>agA	p.R207R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	207	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CACGAAGTAGGAGTCGCAGGA	0.428000													19	49					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346210	56346210	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:56346210G>A	ENST00000331886.5	+	20	2192	c.1738G>A	c.(1738-1740)Gtt>Att	p.V580I	DGKA_ENST00000551156.1_Missense_Mutation_p.V580I|DGKA_ENST00000394147.1_Missense_Mutation_p.V580I|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	580					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTTTGACAGTTGAGGTGTG	0.428000													35	47					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140034120	140034120	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140034120G>A	ENST00000417647.2	+	7	678	c.539G>A	c.(538-540)aGc>aAc	p.S180N		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	180					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATTGCCAGCAAAGAGAAA	0.403000													3	10					0	0	1	0	0
C9orf129	445577	broad.mit.edu	37	9	96080719	96080719	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:96080719G>A	ENST00000375419.1	-	5	915	c.552C>T	c.(550-552)tgC>tgT	p.C184C	WNK2_ENST00000395475.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	184										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CTGGGGCAGGGCACACTGGCG	0.597000													10	62					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697247	48697247	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:48697247C>T	ENST00000236495.5	+	7	766	c.716C>T	c.(715-717)gCt>gTt	p.A239V	SLC5A9_ENST00000438567.2_Missense_Mutation_p.A214V|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A235V|SLC5A9_ENST00000420136.2_3'UTR	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	214						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TACACAGATGCTCTGCAGACG	0.552000													9	35					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216034	111216034	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:111216034G>A	ENST00000369769.2	-	1	1621	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	466						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I466I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGACACCGGCGATGGCACAGA	0.527000													3	65					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52684159	52684159	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:52684159C>T	ENST00000399231.3	-	12	1753	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	MYO5A_ENST00000356338.6_Missense_Mutation_p.G504S|MYO5A_ENST00000399233.2_Missense_Mutation_p.G504S|MYO5A_ENST00000358212.6_Missense_Mutation_p.G504S|MYO5A_ENST00000553916.1_Missense_Mutation_p.G504S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	504	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTAGAATGCCTAGTTTTGAT	0.338000													16	41					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104639559	104639559	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:104639559C>T	ENST00000315264.7	+	7	1627	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	KIF26A_ENST00000423312.2_Missense_Mutation_p.P556S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	556	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCGGGAGGACCCCGTGTGTGG	0.711000													9	8					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149900947	149900947	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149900947G>A	ENST00000261797.6	+	2	633	c.131G>A	c.(130-132)gGc>gAc	p.G44D	NDST1_ENST00000523767.1_Missense_Mutation_p.G44D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	44	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGCGAGGCCTGGAGCCC	0.652000													43	83					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106543608	106543608	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:106543608G>A	ENST00000369096.4	+	3	644	c.410G>A	c.(409-411)aGg>aAg	p.R137K	PRDM1_ENST00000369091.2_Splice_Site_p.R101K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	137	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TATTTTTGGAGGGTAAGTAAG	0.413000			"""D, N, Mis, F, S"""		DLBCL								5	46					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333022	18333022	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:18333022C>T	ENST00000355502.3	-	6	1225	c.354G>A	c.(352-354)gaG>gaA	p.E118E	PDE4C_ENST00000594617.3_Silent_p.E118E|PDE4C_ENST00000447275.3_Silent_p.E12E|PDE4C_ENST00000262805.12_Silent_p.E86E|PDE4C_ENST00000594465.3_Silent_p.E118E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	118					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	ACAGGAAGGACTCGCGCCGCT	0.642000													17	31					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637678	17637678	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:17637678C>T	ENST00000262077.2	-	16	2169	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	NUP153_ENST00000537253.1_Missense_Mutation_p.G755S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	724					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCCAAGTGCCTATCACTGGT	0.408000													70	151					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20136095	20136095	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:20136095C>T	ENST00000345530.3	-	21	2447	c.2332G>A	c.(2332-2334)Ggg>Agg	p.G778R	WDR35_ENST00000281405.4_Missense_Mutation_p.G767R|WDR35_ENST00000416055.2_Missense_Mutation_p.G343R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	778										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAATCCCCCAATTTCAGC	0.443000													5	75					0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616794	91616794	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:91616794C>T	ENST00000375846.3	+	1	5374	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	S1PR3_ENST00000358157.2_Missense_Mutation_p.R227C			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	227					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GTCCAGCAGCCGTAAGGTGGC	0.567000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	42					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903656	119903656	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:119903656G>A	ENST00000313400.4	-	4	1217	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.P373S			O75129	ASTN2_HUMAN	astrotactin 2	373						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCGCAGGGGTGGTTGCAGC	0.597000													21	33					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69031675	69031675	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:69031675C>T	ENST00000288368.4	+	28	3707	c.3430C>T	c.(3430-3432)Ctt>Ttt	p.L1144F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1144					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGGTGATGAACTTCCCTTAAG	0.343000													6	104					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1267956	1267956	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1267956G>A	ENST00000348261.5	+	32	5609	c.5361G>A	c.(5359-5361)agG>agA	p.R1787R	CACNA1H_ENST00000358590.4_Silent_p.R1781R|CACNA1H_ENST00000565831.1_Silent_p.R1781R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1787					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCTGAGCAGGCACGCCACCT	0.682000													4	9					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000337195.5_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582000													5	73					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139210131	139210131	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:139210131C>T	ENST00000423192.1	+	19	2538	c.2377C>T	c.(2377-2379)Ctt>Ttt	p.L793F	ECT2L_ENST00000541398.1_Missense_Mutation_p.L647F|ECT2L_ENST00000367682.2_Missense_Mutation_p.L793F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	793					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTAGCCCAACTTCATTGCTG	0.323000			"""N, Splice, Mis"""		ETP ALL								35	84					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33767974	33767974	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:33767974C>T	ENST00000285013.6	-	6	2609	c.2334G>A	c.(2332-2334)aaG>aaA	p.K778K	SLFN13_ENST00000542635.1_Silent_p.K778K|SLFN13_ENST00000534689.1_Silent_p.K460K|SLFN13_ENST00000533791.1_Silent_p.K778K|SLFN13_ENST00000360502.2_Silent_p.K460K|SLFN13_ENST00000526861.1_Silent_p.K778K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	778						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTTAATAATCTTTGTGTTGC	0.418000													19	91					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203334	26203334	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:26203334C>T	ENST00000264712.3	-	1	2032	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	KIF3C_ENST00000405914.1_Missense_Mutation_p.E485K	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	485					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGCTTCTCCTCGCTCACC	0.592000													19	43					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807852	209807852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:209807852C>T	ENST00000391911.1	-	5	893	c.504G>A	c.(502-504)tgG>tgA	p.W168*	LAMB3_ENST00000367030.3_Nonsense_Mutation_p.W168*|LAMB3_ENST00000356082.4_Nonsense_Mutation_p.W168*	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	168	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAACATCCTGCCAGCTCTGAG	0.607000													5	64					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141474259	141474259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:141474259C>T	ENST00000389484.3	-	36	6856	c.5885G>A	c.(5884-5886)tGg>tAg	p.W1962*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1962					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAGCAATCCAGTCAACAGC	0.373000										TSP Lung(27;0.18)			10	109					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339959	101339959	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:101339959C>T	ENST00000370114.3	-	5	1968	c.532G>A	c.(532-534)Gtt>Att	p.V178I	EXTL2_ENST00000535414.1_Missense_Mutation_p.V165I|EXTL2_ENST00000370113.3_Missense_Mutation_p.V178I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	178					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTCTAGGAACAAATCCTACA	0.363000													34	100					0	0	1	0	0
KIAA1143	57456	broad.mit.edu	37	3	44803058	44803058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:44803058C>T	ENST00000296121.4	-	1	96	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	13										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		GCCGGCTCGGCTGGCCGCACG	0.602000													5	67					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122319729	122319729	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:122319729G>A	ENST00000264357.5	+	2	447	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GRIA3_ENST00000371264.3_Missense_Mutation_p.R52H|GRIA3_ENST00000371256.5_Missense_Mutation_p.R52H|GRIA3_ENST00000371266.1_Missense_Mutation_p.R52H|GRIA3_ENST00000371251.1_Missense_Mutation_p.R52H|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.R36H|GRIA3_ENST00000542149.1_Missense_Mutation_p.R52H	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	52					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGCGCTTTCCGCTTTGCCGTG	0.483000													7	95					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86207978	86207978	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:86207978G>A	ENST00000394518.2	+	13	5079	c.4984G>A	c.(4984-4986)Gat>Aat	p.D1662N	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1666N|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1662					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAGGATGTTTGATCAGCAGGT	0.403000													29	43					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143658	21143658	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:21143658G>A	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							CAAGATGGAGGGAGAAGATGG	0.428000													17	24					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124232519	124232519	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124232519G>A	ENST00000276704.4	-	6	1018	c.967C>T	c.(967-969)Cca>Tca	p.P323S		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	323							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTTTCTGGGATATCTTCT	0.418000													4	14					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102494905	102494905	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:102494905G>A	ENST00000321521.9	+	17	2366	c.1793G>A	c.(1792-1794)aGt>aAt	p.S598N	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S598N|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S598N			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	598					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGTGAAAAGTGCAAATATG	0.368000													13	71					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3301793	3301793	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:3301793C>T	ENST00000378398.3	+	4	598	c.516C>T	c.(514-516)atC>atT	p.I172I	PRDM16_ENST00000511072.1_Silent_p.I173I|PRDM16_ENST00000514189.1_Silent_p.I173I|PRDM16_ENST00000378391.2_Silent_p.I172I|PRDM16_ENST00000441472.2_Silent_p.I172I|PRDM16_ENST00000270722.5_Silent_p.I172I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.I172I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	172	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCAAGTACATCCGTGTGGCGT	0.582000			T	EVI1	"""MDS, AML"""								20	60					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46295066	46295066	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:46295066G>A	ENST00000359930.4	-	12	2594	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D	SULF2_ENST00000484875.1_Silent_p.D581D|SULF2_ENST00000361612.4_Silent_p.D581D|SULF2_ENST00000467815.1_Silent_p.D581D	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	581					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGCCACTGAAGTCCCCACCAT	0.617000													4	73					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171595	22171595	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:22171595C>T	ENST00000397126.4	-	2	268	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ZNF208_ENST00000599916.1_Silent_p.L40L|ZNF208_ENST00000601773.1_Silent_p.L40L|ZNF208_ENST00000597040.1_Silent_p.L8L	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGGAAGACCAGGTTTCTGT	0.423000													54	137					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631420	116631420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:116631420C>T	ENST00000395715.3	-	3	1482	c.905G>A	c.(904-906)gGt>gAt	p.G302D	TRPS1_ENST00000519674.1_Missense_Mutation_p.G289D|TRPS1_ENST00000520276.1_Missense_Mutation_p.G293D|TRPS1_ENST00000220888.5_Missense_Mutation_p.G289D|TRPS1_ENST00000519076.1_Missense_Mutation_p.G243D	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	289					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCAGCACACCAGAAAACAC	0.428000									Langer-Giedion syndrome				14	34					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110770427	110770427	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110770427G>A	ENST00000395494.2	+	8	1603	c.1040G>A	c.(1039-1041)gGt>gAt	p.G347D	ATP2A2_ENST00000539276.2_Missense_Mutation_p.G374D|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G374D			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	374					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGAGTGGAAGGTGATACTTGT	0.388000													10	233					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69177837	69177837	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69177837G>A	ENST00000481498.1	-	2	81	c.63C>T	c.(61-63)taC>taT	p.Y21Y	GKN2_ENST00000328895.4_Silent_p.Y21Y			Q86XP6	GKN2_HUMAN	gastrokine 2	21						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AACTCACCTCGTATCCATGAG	0.458000													25	34					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140449846	140449846	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:140449846C>T	ENST00000277540.2	-	9	1361	c.1204G>A	c.(1204-1206)Ggc>Agc	p.G402S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		TTCCTCATGCCCTCTGTGAGT	0.587000													21	53					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:9258903C>T	ENST00000262126.4	+	9	5878	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	ANKRD12_ENST00000383440.2_Missense_Mutation_p.P1857S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1857S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus		p.P1880S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGGAAACCCCTTAAGCAA	0.383000													6	141					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113078656	113078656	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113078656C>T	ENST00000316851.7	+	6	818	c.818C>T	c.(817-819)gCt>gTt	p.A273V	NCAM1_ENST00000401611.2_Missense_Mutation_p.A282V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.A165V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	283	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AACGACGAGGCTGAGTACATC	0.527000													3	17					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74658613	74658613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:74658613C>T	ENST00000334011.5	+	2	471	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	85						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AACCCACGCACCTGTCTGGCT	0.572000													16	33					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204594447	204594447	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:204594447C>T	ENST00000324106.8	+	3	635	c.486C>T	c.(484-486)gtC>gtT	p.V162V	CD28_ENST00000374478.4_Silent_p.V43V|CD28_ENST00000458610.2_Silent_p.V176V|CD28_ENST00000374481.3_Silent_p.V78V	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGTGGAGTCCTGGCTTGCT	0.443000													6	176					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19389557	19389557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19389557C>T	ENST00000247001.5	-	11	1924	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	526					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CAGGAAGTCTCCGATGAAGTG	0.587000													3	9					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49004693	49004693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:49004693G>A	ENST00000356401.4	+	6	862	c.523G>A	c.(523-525)Gac>Aac	p.D175N	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.D175N	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	175					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCTCGTCAAGGACGGCGTGGG	0.493000													31	63					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969440	103969440	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:103969440C>T	ENST00000535008.1	+	1	337	c.213C>T	c.(211-213)ggC>ggT	p.G71G	LHFPL3_ENST00000424859.1_Silent_p.G57G|LHFPL3_ENST00000543266.1_Silent_p.G71G|LHFPL3_ENST00000401970.2_Silent_p.G57G			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	57						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CGCAAGCCGGCTATTTCGGGC	0.627000													20	84					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145524055	145524055	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:145524055C>T	ENST00000394434.2	-	17	1801	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	LARS_ENST00000510191.1_Silent_p.Q491Q|LARS_ENST00000274562.9_Silent_p.Q518Q|LARS_ENST00000545646.1_Silent_p.Q499Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	545					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCTTCAAGCACTGAGATGTCT	0.363000													4	84					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35616886	35616886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:35616886C>T	ENST00000287272.2	+	13	2025	c.2005C>T	c.(2005-2007)Cca>Tca	p.P669S	UNC5D_ENST00000420357.1_Missense_Mutation_p.P671S|UNC5D_ENST00000404895.2_Missense_Mutation_p.P738S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P733S|UNC5D_ENST00000449677.1_Missense_Mutation_p.P314S|UNC5D_ENST00000416672.1_Missense_Mutation_p.P743S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	738					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTGGAAGAACCAAAATTGCT	0.393000													32	85					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184702035	184702035	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:184702035G>A	ENST00000318130.8	-	6	814	c.548C>T	c.(547-549)gCa>gTa	p.A183V	EDEM3_ENST00000367512.3_Missense_Mutation_p.A140V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	183					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAACTGCTTTGCCATTTGGAG	0.408000													10	70					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70432331	70432331	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:70432331G>A	ENST00000393640.4	-	1	2210	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.P35S|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	35					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCAGGTAGGGGAGCGTGGCC	0.652000													16	34					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194150800	194150800	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:194150800C>T	ENST00000439040.1	-	26	3569		c.e26+1		ATP13A3_ENST00000256031.4_Splice_Site			Q9H7F0	AT133_HUMAN	ATPase type 13A3						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTGTACTACCTGATAAGGT	0.373000													4	20					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72176164	72176164	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:72176164G>A	ENST00000324262.4	+	5	772		c.e5+1		CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Splice_Site	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)							cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AACAGGCCAGGTATGCCCCCC	0.537000													13	8					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113604468	113604468	+	Missense_Mutation	SNP	G	G	A	rs145667481		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113604468G>A	ENST00000200135.3	-	16	2432	c.2288C>T	c.(2287-2289)gCc>gTc	p.A763V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	763					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CTGAAACAAGGCACGAATTAA	0.423000													21	43					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961327	99961327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:99961327G>A	ENST00000297565.4	+	2	643	c.147G>A	c.(145-147)atG>atA	p.M49I	OSR2_ENST00000523368.1_Missense_Mutation_p.M49I|OSR2_ENST00000522510.1_Missense_Mutation_p.M49I|OSR2_ENST00000435298.2_Missense_Mutation_p.M49I|OSR2_ENST00000457907.2_Missense_Mutation_p.M170I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	49					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TACAGACCATGCACATGAACC	0.642000													3	37					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87022303	87022303	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:87022303G>A	ENST00000395169.3	-	8	1238	c.518C>T	c.(517-519)gCc>gTc	p.A173V	MAPK10_ENST00000395160.3_Missense_Mutation_p.A66V|MAPK10_ENST00000395157.3_Missense_Mutation_p.A66V|MAPK10_ENST00000361569.2_Missense_Mutation_p.A211V|MAPK10_ENST00000449047.2_Missense_Mutation_p.A66V|MAPK10_ENST00000395161.2_Missense_Mutation_p.A211V|MAPK10_ENST00000359221.3_Missense_Mutation_p.A211V|MAPK10_ENST00000395166.1_Missense_Mutation_p.A173V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	211	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	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)		TGCTGTCCTGGCCAGTCCAAA	0.443000													13	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634464	179634464	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179634464C>T	ENST00000589042.1	-	37	9068	c.8844G>A	c.(8842-8844)tcG>tcA	p.S2948S	TTN_ENST00000360870.5_Silent_p.S2948S|TTN_ENST00000342175.6_Silent_p.S2902S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.S2902S|TTN_ENST00000342992.6_Silent_p.S2948S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S2948S|TTN_ENST00000359218.5_Silent_p.S2902S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2686	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATTCTGCCGAGTCCTCTG	0.388000													29	59					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555179	35555179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:35555179C>T	ENST00000455600.1	+	3	2706	c.2137C>T	c.(2137-2139)Ctc>Ttc	p.L713F		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	713						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCGGGCCCTCCACAGCCT	0.637000													5	82					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14042119	14042119	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:14042119G>A	ENST00000311895.7	+	11	2675	c.2666G>A	c.(2665-2667)gGg>gAg	p.G889E		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	889	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGTATTCTGGGGAATGCTGCA	0.458000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				20	93					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858761	149858761	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:149858761C>T	ENST00000331380.2	+	1	237	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	79					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGACGCGCATCATCCCTCGTC	0.647000													9	91					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31618007	31618007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:31618007C>T	ENST00000409210.1	+	6	1037	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	CCDC129_ENST00000451887.2_Missense_Mutation_p.H403Y|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.H377Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	377										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGCTTGTCTCATCTTGCAGG	0.498000													24	41					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62192220	62192220	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:62192220G>A	ENST00000467148.1	-	15	7278	c.7209C>T	c.(7207-7209)aaC>aaT	p.N2403N	HELZ2_ENST00000427522.2_Silent_p.N1834N	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCAGACCCAGGTTTTGCAGCC	0.622000													6	113					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340101	29340101	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:29340101C>T	ENST00000269205.5	-	1	742	c.554G>A	c.(553-555)gGc>gAc	p.G185D	SLC25A52_ENST00000579441.2_Missense_Mutation_p.G175D	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	175					transport	integral to membrane|mitochondrial inner membrane											GGGCACCAAGCCTCGATAATA	0.453000													47	105					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993064	96993064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:96993064C>T	ENST00000361124.4	+	1	1130	c.719C>T	c.(718-720)aCc>aTc	p.T240I	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.T224I|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.T232I|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.T224I	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	232						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCATGAGACCCAGAAATTT	0.612000													4	75					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696326	67696326	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:67696326C>T	ENST00000458121.2	+	3	905	c.814C>T	c.(814-816)Cct>Tct	p.P272S	PARD6A_ENST00000602551.1_Missense_Mutation_p.P243S|PARD6A_ENST00000219255.3_Missense_Mutation_p.P273S	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	273					cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGGGCCTGGGCCTGCTGAGCC	0.612000													8	36					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259654	79259654	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:79259654C>T	ENST00000428286.1	-	12	8855		c.e12+1		PRUNE2_ENST00000376718.3_Splice_Site|PRUNE2_ENST00000223609.6_Splice_Site|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000466266.2_Splice_Site			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCTCGACTACCTCCGTGAGA	0.483000													14	31					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25606379	25606379	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:25606379G>A	ENST00000329474.6	+	35	4093	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1242					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGGAAGCAGGCTCCAGGTCT	0.567000													19	33					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87549877	87549877	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:87549877G>A	ENST00000370550.5	+	3	727	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	HS2ST1_ENST00000370551.4_Splice_Site_p.V122M|RP5-1052I5.2_ENST00000370548.2_Splice_Site_p.V96M|HS2ST1_ENST00000356813.4_Splice_Site_p.V96M	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	122						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CCCTTTTTAGGTGCGCTTTGT	0.303000													5	65					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96054257	96054257	+	Silent	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:96054257A>G	ENST00000358812.4	+	5	1499	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	455	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CTTATGCATTAGATCGCCAGC	0.358000													15	31					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62568850	62568850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:62568850C>T	ENST00000531709.2	-	8	862	c.749G>A	c.(748-750)aGa>aAa	p.R250K	NXF1_ENST00000531131.1_Missense_Mutation_p.R113K|NXF1_ENST00000439713.2_Missense_Mutation_p.R250K|NXF1_ENST00000294172.2_Missense_Mutation_p.R250K|NXF1_ENST00000532297.1_Missense_Mutation_p.R250K	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	250	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATACAGCTTCTGCGATTCAG	0.502000													11	40					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33195087	33195087	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:33195087G>A	ENST00000309558.3	-	5	1454	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	346					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCCCCGAGGGACCATCAGT	0.527000													3	49					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107414616	107414616	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:107414616C>T	ENST00000334504.7	-	33	3511		c.e33+1		COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site|COL4A6_ENST00000372216.4_Splice_Site|COL4A6_ENST00000394872.2_Splice_Site	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCAACCTTACCTTTAAAACC	0.443000									Alport syndrome with Diffuse Leiomyomatosis				32	29					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90447216	90447216	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:90447216C>T	ENST00000357484.5	-	4	422		c.e4-1		C15orf38-AP3S2_ENST00000398333.3_Splice_Site|C15orf38_ENST00000460685.1_Splice_Site	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GCTTCCACCTCTGCAGGCACA	0.627000													14	27					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88748058	88748058	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:88748058C>T	ENST00000332281.5	-	2	227	c.141G>A	c.(139-141)gaG>gaA	p.E47E	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	47					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CAGAAGGGGCCTCCTTGTCTC	0.652000													6	22					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037873	75037873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:75037873C>T	ENST00000326665.5	-	14	3739	c.3521G>A	c.(3520-3522)aGg>aAg	p.R1174K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1174	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTTCTTTCCTCAGAGCTGT	0.493000													14	122					0	0	1	0	0
BMPR1A	657	broad.mit.edu	37	10	88678956	88678956	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:88678956C>T	ENST00000372037.3	+	10	1433	c.896C>T	c.(895-897)aCa>aTa	p.T299I		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ATTAAAGGTACAGGTTCCTGG	0.423000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				6	139					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397728	116397728	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:116397728C>T	ENST00000397752.3	+	8	2202	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	MET_ENST00000318493.6_Missense_Mutation_p.P668S|MET_ENST00000436117.2_Missense_Mutation_p.P668S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	668	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAATACGGTCCTATGGCTGG	0.333000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				23	353					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56997840	56997840	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:56997840G>A	ENST00000370706.4	+	6	669	c.425G>A	c.(424-426)gGa>gAa	p.G142E	ZNF451_ENST00000491832.2_Splice_Site_p.G142E|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Splice_Site_p.G142E|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGATGCAGGACTCAAAACA	0.363000													8	39					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87030379	87030379	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:87030379C>T	ENST00000340353.7	+	13	1340	c.1138C>T	c.(1138-1140)Cca>Tca	p.P380S	TMEM135_ENST00000535167.1_Missense_Mutation_p.P263S|TMEM135_ENST00000532959.1_Missense_Mutation_p.P273S|TMEM135_ENST00000305494.5_Missense_Mutation_p.P402S	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	402						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GACTTTGAGACCATCTTACTG	0.323000													28	52					0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36352761	36352761	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:36352761G>A	ENST00000357058.3	-	8	1513	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	RNF38_ENST00000350199.4_Missense_Mutation_p.P303S|RNF38_ENST00000377885.2_Missense_Mutation_p.P303S|RNF38_ENST00000259605.6_Missense_Mutation_p.P386S|RNF38_ENST00000353739.4_Missense_Mutation_p.P336S|RNF38_ENST00000377877.4_Missense_Mutation_p.P310S	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	386	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGTAAGCTGGGATGATAAGGG	0.418000													9	24					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569929	130569929	+	Missense_Mutation	SNP	G	G	A	rs138057415		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:130569929G>A	ENST00000373245.1	+	8	756	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	FPGS_ENST00000373225.3_Missense_Mutation_p.V186M|FPGS_ENST00000373247.2_Missense_Mutation_p.V236M|FPGS_ENST00000393706.2_Missense_Mutation_p.V210M|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	236					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGGGGATACGGTGGAGAAGAT	0.597000													4	9					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71098945	71098945	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:71098945G>A	ENST00000396396.1	+	9	1689	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	487					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTGTGGATGGCACTGTGACC	0.502000													27	42					0	0	1	0	0
MANF	7873	broad.mit.edu	37	3	51423750	51423750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:51423750G>A	ENST00000528157.1	+	2	502	c.206G>A	c.(205-207)gGc>gAc	p.G69D	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	69					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						GAAGCAAGAGGCAAAGAGAAT	0.488000													8	23					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123239666	123239666	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:123239666G>A	ENST00000349780.4	-	15	1868	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	CDK5RAP2_ENST00000360190.4_Silent_p.I563I|CDK5RAP2_ENST00000359309.3_Silent_p.I563I|CDK5RAP2_ENST00000360822.3_Silent_p.I563I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	563					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GATGGGTATAGATGTCCTGCT	0.423000											OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	127					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50475084	50475084	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:50475084G>A	ENST00000267842.5	+	1	692	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SLC27A2_ENST00000380902.4_Missense_Mutation_p.V154M	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	154					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CGGGGCGAAGGTGCTGCTGGT	0.657000													9	198					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68555706	68555706	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:68555706G>A	ENST00000502604.1	+	6	681	c.191G>A	c.(190-192)gGc>gAc	p.G64D	CDK7_ENST00000256443.3_Missense_Mutation_p.G157D|CDK7_ENST00000513629.1_Intron|CDK7_ENST00000514676.1_Missense_Mutation_p.G120D			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	157	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GCAGATTTTGGCCTGGCCAAA	0.393000								Nucleotide excision repair (NER)					6	75					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64436647	64436647	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:64436647G>A	ENST00000355086.3	+	5	1091	c.567G>A	c.(565-567)gaG>gaA	p.E189E	SRGAP1_ENST00000357825.3_Silent_p.E189E|SRGAP1_ENST00000543397.1_Silent_p.E149E|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	189					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAAAACAAGAGGAAAAGCAAA	0.418000													14	29					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21442775	21442775	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:21442775C>T	ENST00000400602.2	-	2	170	c.135G>A	c.(133-135)agG>agA	p.R45R	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Silent_p.R45R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	45					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATTTTGATTTCCTAAATGATA	0.353000													7	78					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396010	1396010	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1396010C>T	ENST00000324385.5	+	24	2495	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	BAIAP3_ENST00000397489.1_Silent_p.F761F|BAIAP3_ENST00000562208.1_Silent_p.F721F|BAIAP3_ENST00000426824.3_Silent_p.F744F|BAIAP3_ENST00000568887.1_Silent_p.F716F|BAIAP3_ENST00000421665.2_Silent_p.F708F|BAIAP3_ENST00000397488.2_Silent_p.F761F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	779	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACCCTCTTCTATACGGAGC	0.677000													7	6					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370848	76370848	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:76370848C>T	ENST00000407242.2	-	3	2031	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N	LRRC32_ENST00000260061.5_Missense_Mutation_p.D597N|LRRC32_ENST00000404995.1_Missense_Mutation_p.D597N|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	597	LRRCT.					integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGATCAGGTCCTGGGTGGCG	0.642000													5	52					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15628506	15628506	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:15628506C>T	ENST00000341285.3	-	8	1238	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	FBXL5_ENST00000412094.2_Missense_Mutation_p.A355T|FBXL5_ENST00000382358.4_Missense_Mutation_p.A246T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	372					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTGTCAAATGCAGAATCTGAA	0.294000													4	54					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455191	27455191	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:27455191G>A	ENST00000262244.5	-	2	782	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	120							metal ion binding|protein binding										TCCATAAGAAGGTTCATGTAC	0.468000													30	17					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257917	52257917	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:52257917G>A	ENST00000597542.1	-	9	1444	c.487C>T	c.(487-489)Cct>Tct	p.P163S	TLR9_ENST00000360658.2_Missense_Mutation_p.P139S|TLR9_ENST00000494383.1_Missense_Mutation_p.A292V			Q9NR96	TLR9_HUMAN	toll-like receptor 9	139					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCAGCGCAGGCACAGTCATG	0.582000													8	148					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29456540	29456540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:29456540C>T	ENST00000216071.4	-	2	346	c.295G>A	c.(295-297)Gga>Aga	p.G99R		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	99										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GAGAGTTTTCCTTCTCCAAAC	0.478000													34	70					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6884725	6884725	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:6884725G>A	ENST00000441671.2	+	5	1402	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	LAG3_ENST00000203629.2_Intron			P18627	LAG3_HUMAN	lymphocyte-activation gene 3	356	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTCAGCCTCAGGTGGGAAAGG	0.587000													26	39					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14609016	14609016	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:14609016G>A	ENST00000274217.3	+	7	907	c.787G>A	c.(787-789)Gtc>Atc	p.V263I		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	263										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GACTAAAAAGGTCATTCCCAG	0.378000													5	75					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74704285	74704285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74704285C>T	ENST00000261918.4	-	11	1911	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	SEMA7A_ENST00000542748.1_Missense_Mutation_p.E290K|SEMA7A_ENST00000543145.2_Missense_Mutation_p.E441K	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	455	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGCTGGATCTCCATGATGTTG	0.632000													21	42					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967424	54967424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:54967424G>A	ENST00000394636.4	+	3	1428	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	IRX5_ENST00000558597.1_Missense_Mutation_p.G298E|IRX5_ENST00000320990.5_Missense_Mutation_p.G363E|IRX5_ENST00000560154.1_Missense_Mutation_p.G144E			P78411	IRX5_HUMAN	iroquois homeobox 5	364					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCGTGTCCCGGGCCCATAGCC	0.701000													3	11					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509459	228509459	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:228509459G>A	ENST00000570156.2	+	66	17862	c.17788G>A	c.(17788-17790)Gtg>Atg	p.V5930M	OBSCN_ENST00000366709.4_Missense_Mutation_p.V2092M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V4973M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V4973M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V2607M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4973	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCTGTCAGGTGAGCAACAA	0.612000													7	36					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307257	89307257	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:89307257C>T	ENST00000338104.6	+	3	336	c.284C>T	c.(283-285)cCt>cTt	p.P95L	TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Missense_Mutation_p.P105L|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000345383.5_Missense_Mutation_p.P95L|TTC8_ENST00000346301.4_Missense_Mutation_p.P95L			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	105					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGGAGGGCCTAGCCAGGCC	0.393000													4	54					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818223	7818223	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:7818223G>A	ENST00000329434.2	-	1	297	c.267C>T	c.(265-267)tcC>tcT	p.S89S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCCAAGGTAGGAGACTGTAT	0.483000													42	34					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21393044	21393044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:21393044G>A	ENST00000313654.9	+	14	2006	c.1765G>A	c.(1765-1767)Gct>Act	p.A589T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A589T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	589	Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTGACCCAGCTGGTACCAT	0.348000													9	89					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51692646	51692646	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:51692646G>A	ENST00000335449.6	+	8	1034	c.978G>A	c.(976-978)gaG>gaA	p.E326E	GLDN_ENST00000396399.2_Silent_p.E202E	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	326	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGATAAGAGAGTCTGCTAACA	0.428000													14	179					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72903658	72903658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:72903658C>T	ENST00000339594.4	-	6	1095	c.757G>A	c.(757-759)Gtt>Att	p.V253I	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V253I	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	253	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGTATCGAACTATCTCCTTA	0.438000													17	133					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98136530	98136530	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:98136530G>A	ENST00000357947.3	-	18	2592	c.2367C>T	c.(2365-2367)agC>agT	p.S789S		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	789	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCAGTTGGGGCTCGCCAGGG	0.562000													29	36					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565574	11565574	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:11565574G>A	ENST00000359227.3	-	7	1295	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	ELAVL3_ENST00000438662.2_Silent_p.L284L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	291	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.L291L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCGGTGACAGGTTGTACACG	0.647000													14	107					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1941411	1941411	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:1941411C>T	ENST00000503128.1	+	9	1994	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.P596L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P596L|WHSC1_ENST00000382895.3_Missense_Mutation_p.P596L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P596L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P596L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P596L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P596L			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	596					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCATGTAAACCACTGAAGAAG	0.368000			T	IGH@	MM								5	62					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91436384	91436384	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91436384C>T	ENST00000328850.3	+	15	2023	c.1881C>T	c.(1879-1881)acC>acT	p.T627T	FES_ENST00000444422.2_Silent_p.T557T|FES_ENST00000394300.3_Silent_p.T569T|FES_ENST00000450438.2_Silent_p.T499T|FES_ENST00000394302.1_Intron|FES_ENST00000414248.2_Silent_p.T499T	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	627	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGTCTGCACCCAGAAGCAGC	0.637000													10	22					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195798293	195798293	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:195798293C>T	ENST00000360110.4	-	6	830	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.A221T|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.A140T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	221					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TTACTATACGCCACATAACCC	0.383000			T	BCL6	NHL								31	63					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773445	91773445	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:91773445G>A	ENST00000389857.6	-	18	3218	c.3132C>T	c.(3130-3132)ggC>ggT	p.G1044G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1044					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTCCTTATGGCCGGGCCCCC	0.647000													15	15					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44193011	44193011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:44193011C>T	ENST00000403799.3	-	2	566	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	GCK_ENST00000395796.3_Missense_Mutation_p.V32M|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000345378.2_Missense_Mutation_p.V34M|GCK_ENST00000437084.1_Missense_Mutation_p.V33M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	33					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGTCTCATCACCTTCTTCAGG	0.632000													6	253					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206758571	206758571	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:206758571C>T	ENST00000304534.8	+	4	998	c.589C>T	c.(589-591)Cct>Tct	p.P197S	RASSF5_ENST00000355294.4_Missense_Mutation_p.P350S|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	350					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTTGCTGGGCCTGACACGGA	0.562000													5	243					0	0	1	0	0
ACYP1	97	broad.mit.edu	37	14	75520183	75520183	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:75520183C>T	ENST00000555463.1	-	3	545	c.354G>A	c.(352-354)ttG>ttA	p.L118L	ACYP1_ENST00000555694.1_Silent_p.L88L|ACYP1_ENST00000238618.3_Silent_p.L88L|ACYP1_ENST00000357971.3_3'UTR			P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	88					phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		AATCCAACTTCAAGATGACTT	0.348000													19	129					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448129	52448129	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52448129C>T	ENST00000293471.6	+	6	1672	c.993C>T	c.(991-993)ctC>ctT	p.L331L	ZNF613_ENST00000391794.4_Silent_p.L295L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGTCCAGGCTCACTGAACACC	0.468000													26	53					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14775893	14775893	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:14775893C>T	ENST00000380881.4	-	26	5569	c.4754G>A	c.(4753-4755)gGg>gAg	p.G1585E	FREM1_ENST00000422223.2_Missense_Mutation_p.G1584E|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380880.3_Missense_Mutation_p.G1584E|FREM1_ENST00000380894.1_Missense_Mutation_p.G120E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGGGAGTCCCCTCCTGAGTG	0.517000													34	154					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31700114	31700114	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:31700114G>A	ENST00000375780.2	-	6	1016	c.444C>T	c.(442-444)ctC>ctT	p.L148L	CLIC1_ENST00000395892.1_Silent_p.L148L|CLIC1_ENST00000375779.2_Silent_p.L148L|CLIC1_ENST00000375784.3_Silent_p.L148L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	148	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CTTCTTCTGGGAGGGGGGATG	0.483000													42	72					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74404697	74404697	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:74404697G>A	ENST00000286544.3	-	6	1906	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y	FAM161B_ENST00000534936.1_Missense_Mutation_p.H507Y|RP5-1021I20.5_ENST00000555916.1_RNA	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGGCTTTTATGGGGATCCATG	0.468000													13	166					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102669193	102669193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:102669193G>A	ENST00000393772.2	-	4	497	c.71C>T	c.(70-72)aCt>aTt	p.T24I	FBXL13_ENST00000379308.3_Missense_Mutation_p.T24I|FBXL13_ENST00000313221.4_Missense_Mutation_p.T24I|FBXL13_ENST00000456695.1_Missense_Mutation_p.T24I|FBXL13_ENST00000379305.3_Missense_Mutation_p.T24I|FBXL13_ENST00000436908.1_Missense_Mutation_p.T24I|FBXL13_ENST00000379306.3_Missense_Mutation_p.T24I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.T24I			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	24								p.T24S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTCTCTCCAAGTGCTGCAGGC	0.313000													22	86					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294234	89294234	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:89294234C>T	ENST00000433976.2	+	6	1786	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	ZNF778_ENST00000306502.6_Missense_Mutation_p.A443V|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGTGGCAAAGCCTTCACAGGG	0.498000													23	41					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203676236	203676236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:203676236C>T	ENST00000357681.5	+	9	2322	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ATP2B4_ENST00000367219.3_Missense_Mutation_p.P388L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P400L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P400L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	400					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGTGTACTCCCATCTACATC	0.493000													3	75					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580294	99580294	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:99580294C>T	ENST00000481138.1	-	6	2672	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	ZNF782_ENST00000535338.1_Missense_Mutation_p.E539K	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TAGGGTTTCTCCCCTGTGTGA	0.423000													43	69					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110370913	110370913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:110370913G>A	ENST00000360185.4	-	19	2164	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	GIT2_ENST00000457474.2_Missense_Mutation_p.T639I|GIT2_ENST00000356259.4_Missense_Mutation_p.T604I|GIT2_ENST00000553118.1_Missense_Mutation_p.T589I|GIT2_ENST00000354574.4_Missense_Mutation_p.T639I|GIT2_ENST00000355312.3_Missense_Mutation_p.T717I|GIT2_ENST00000343646.5_Missense_Mutation_p.T607I|GIT2_ENST00000338373.5_Missense_Mutation_p.T619I|GIT2_ENST00000551209.1_Missense_Mutation_p.T666I|GIT2_ENST00000361006.5_Missense_Mutation_p.T687I|TCHP_ENST00000550780.1_Intron	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	717					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ccctgggagggtcttcttgca	0.557000													10	8					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140575	50140575	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:50140575G>A	ENST00000371564.3	-	2	424	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.L49F|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.L49F|NFATC2_ENST00000396009.3_Missense_Mutation_p.L69F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	69					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TATGGCTTGAGGCCATAGTCC	0.622000													4	60					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164790803	164790803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:164790803G>A	ENST00000367897.1	+	7	1027	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	PBX1_ENST00000420696.2_Silent_p.Q380Q|PBX1_ENST00000540246.1_Silent_p.Q275Q|PBX1_ENST00000559240.1_Silent_p.Q289Q|PBX1_ENST00000401534.1_Missense_Mutation_p.D343N|PBX1_ENST00000560641.1_Silent_p.Q275Q|PBX1_ENST00000540236.1_Silent_p.Q380Q			P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	0					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTATCAGCCAGACAGGAGGAT	0.478000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								15	37					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8389655	8389655	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:8389655G>A	ENST00000330915.3	-	9	2207	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	KANK3_ENST00000593649.1_Silent_p.T714T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	714										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACGCCAGTAGGGTTGCCACCA	0.652000													3	43					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711620	155711620	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:155711620C>T	ENST00000295101.2	+	3	1778	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	434					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GGAGACTTGCCCATGAAACTT	0.418000													9	99					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816373	1816373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:1816373C>T	ENST00000250894.4	+	22	2936	c.2779C>T	c.(2779-2781)Cca>Tca	p.P927S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P921S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	927					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTTCACTGACCCAGCCCCGAC	0.701000													6	28					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56866245	56866245	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:56866245C>T	ENST00000564887.1	+	10	1550	c.921C>T	c.(919-921)tcC>tcT	p.S307S	NUP93_ENST00000569842.1_Silent_p.S430S|NUP93_ENST00000308159.5_Silent_p.S430S|NUP93_ENST00000542526.1_Silent_p.S307S	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	430					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCACCAGCTCCCCACAAGACA	0.473000													26	31					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26890777	26890777	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:26890777G>A	ENST00000407690.1	-	13	2261	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	TFIP11_ENST00000405938.1_Missense_Mutation_p.P660S|TFIP11_ENST00000407148.1_Missense_Mutation_p.P660S|TFIP11_ENST00000407431.1_Missense_Mutation_p.P660S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	660					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCCACTTGGGGAAGAAGTGC	0.498000													20	44					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932631	79932631	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:79932631G>A	ENST00000373275.4	-	41	5102	c.4886C>T	c.(4885-4887)tCc>tTc	p.S1629F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1629										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATCTGTTCTGGAAGTTGATTC	0.383000													55	111					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119887078	119887078	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:119887078C>T	ENST00000464295.1	-	10	1691	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	GPR156_ENST00000461057.1_Missense_Mutation_p.V412I|GPR156_ENST00000315843.3_Missense_Mutation_p.V416I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	416						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGGTGTGGACCGAGGCTACC	0.627000													5	38					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916498	28916498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:28916498G>A	ENST00000257192.4	+	9	1399	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	396	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTGTAACTGGTAATATGGGA	0.383000													7	60					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198270046	198270046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:198270046G>A	ENST00000335508.6	-	10	1481	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAAAATGGAAGATTTCCAGAT	0.348000			Mis		myelodysplastic syndrome								7	47					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104062	44104062	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:44104062G>A	ENST00000361807.3	+	3	219	c.25G>A	c.(25-27)Gga>Aga	p.G9R	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Splice_Site_p.G9R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGTTTTGCAGGGACCGCTGAC	0.562000													4	16					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44732748	44732748	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:44732748C>T	ENST00000589707.1	+	3	326	c.57C>T	c.(55-57)acC>acT	p.T19T	ZNF227_ENST00000313040.7_Intron|ZNF227_ENST00000589005.1_Intron|ZNF227_ENST00000586228.1_Intron|ZNF227_ENST00000391961.2_Intron			Q86WZ6	ZN227_HUMAN	zinc finger protein 227	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTCTCTGACCCTGAACTTCA	0.463000													8	106					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648744	34648744	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:34648744G>A	ENST00000537011.1	+	8	2917	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	NUTM1_ENST00000333756.4_Silent_p.R817R|NUTM1_ENST00000438749.3_Silent_p.R835R	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CACCCTTGAGGTCCAAAGAAA	0.522000													4	55					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30667355	30667355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30667355C>T	ENST00000542965.2	+	11	1937	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	PRR14_ENST00000300835.4_Missense_Mutation_p.T494I			Q9BWN1	PRR14_HUMAN	proline rich 14	494										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTGTTCAGGACCTTTGAGACC	0.567000													23	49					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629439	109629439	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:109629439G>A	ENST00000338432.7	+	14	2285	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	ACACB_ENST00000377854.5_Silent_p.K722K|ACACB_ENST00000377848.3_Silent_p.K722K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	722	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGCTTTGAAGGAACTGTCCA	0.483000													26	48					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458244	53458244	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:53458244C>T	ENST00000331173.4	-	1	1111	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	356	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGGGGTGGACCCAGATAACCT	0.572000													6	92					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402723	33402723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33402723C>T	ENST00000373456.7	-	9	1882	c.1883G>A	c.(1882-1884)gGc>gAc	p.G628D	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.G627D	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	628	Poly-Gly.					integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTGCCTCCGCCACCACTACC	0.562000													9	120					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99097389	99097389	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:99097389C>T	ENST00000337673.6	-	1	531	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E110K|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	110	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGAACTGCTCCAGCACCAGC	0.667000													4	168					0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220634	10220634	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10220634G>A	ENST00000428358.1	+	7	808	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PPAN_ENST00000393793.1_Silent_p.K159K|PPAN_ENST00000253107.7_Silent_p.K212K|PPAN-P2RY11_ENST00000393796.4_Silent_p.K212K|PPAN_ENST00000556468.1_Silent_p.K212K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		212	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGATGAAGAAGCTGCTCCAGG	0.642000													8	106					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118766132	118766132	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:118766132G>A	ENST00000376300.2	-	2	282	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	CCDC93_ENST00000319432.5_Missense_Mutation_p.P49S|AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000590516.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	49								p.P49S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTGTCAAAGGGTGATAAGCCT	0.383000													9	82					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18284584	18284584	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:18284584G>A	ENST00000377369.2	+	10	1806		c.e10-1		SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Splice_Site|SLC39A12_ENST00000377374.4_Splice_Site	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTTAAAATAGAAAAGCCCAG	0.343000													5	95					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249171	140249171	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140249171C>T	ENST00000398640.2	+	1	483	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGCTGACATTGAAGAGA	0.423000													29	162					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164046	92164046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:92164046G>A	ENST00000481551.1	+	4	820	c.779G>A	c.(778-780)gGt>gAt	p.G260D	RBM48_ENST00000265732.5_Missense_Mutation_p.G260D			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	260							nucleotide binding										GCCTGCCCTGGTGCACAAAAG	0.423000													17	50					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354301	40354301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40354301G>A	ENST00000221347.6	-	35	16175	c.16168C>T	c.(16168-16170)Cca>Tca	p.P5390S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5390	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCATCGCTGGCTTCTCCTGG	0.552000													3	30					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098506	144098506	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:144098506G>A	ENST00000467773.1	-	4	476	c.477C>T	c.(475-477)tgC>tgT	p.C159C	NOBOX_ENST00000483238.1_Silent_p.C159C|NOBOX_ENST00000223140.5_Silent_p.C74C	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	159					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGGGGGCGGGCACAGTCTCC	0.637000													15	39					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103979026	103979026	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:103979026G>A	ENST00000394785.3	-	4	1005	c.374C>T	c.(373-375)gCc>gTc	p.A125V	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.A125V|SLC9B2_ENST00000339611.4_Missense_Mutation_p.A125V	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	125					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ACCAATGATGGCACAATAGAA	0.403000													48	71					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115614	68115614	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:68115614C>T	ENST00000294304.7	+	2	497	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	131	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAGACCAACCGCATCGAGGT	0.647000													30	88					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41062980	41062980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:41062980C>T	ENST00000253801.2	+	5	690	c.611C>T	c.(610-612)gCc>gTc	p.A204V	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	204					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATCTATAATGCCAGCCTCAAG	0.463000													8	83					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763720	56763720	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:56763720A>G	ENST00000267460.4	+	6	1385	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	367					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TCATGCTTTCACTCCCTGTGG	0.547000													5	99					0	0	1	0	0
IGLV7-46	28775	broad.mit.edu	37	22	22724390	22724390	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:22724390C>T	ENST00000390295.2	+	0	320																											TGCCCTGACCCTTTTGGGTGC	0.552000													3	33					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132038352	132038352	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:132038352G>A	ENST00000378746.4	-	12	1793	c.1575C>T	c.(1573-1575)cgC>cgT	p.R525R	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000403231.1_Silent_p.R552R|KIF3A_ENST00000378735.1_Silent_p.R528R	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	525					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAATATCCAAGCGTTCTTGCT	0.313000													11	40					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55895374	55895374	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:55895374G>A	ENST00000521992.1	-	8	1097	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	CES5A_ENST00000290567.9_Silent_p.L289L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.L289L|CES5A_ENST00000518005.1_Silent_p.L183L|CES5A_ENST00000520435.1_Silent_p.L259L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	289						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGGCACCTCAGCAGGGCCTCA	0.547000													17	20					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134276827	134276827	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:134276827C>T	ENST00000414097.2	-	4	1035	c.168G>A	c.(166-168)cgG>cgA	p.R56R	NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000354944.5_Silent_p.R56R|NDRG1_ENST00000323851.7_Silent_p.R56R|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	56					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGATGACAGGCCGGTTTCCCT	0.557000			T	ERG	prostate								16	35					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32729664	32729664	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:32729664G>A	ENST00000435145.2	-	2	198	c.137C>T	c.(136-138)aCc>aTc	p.T46I	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.T46I|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.T46I			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	46					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTCCCGTTGGTGAAGTAGCA	0.632000													3	19					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111542	57111542	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57111542G>A	ENST00000454682.1	-	3	4053	c.3772C>T	c.(3772-3774)Cca>Tca	p.P1258S	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGGGGGGTGGGGTAGCTGGG	0.657000			T	BCL6	NHL								6	90					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599958	123599958	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:123599958C>T	ENST00000340011.5	+	5	1822	c.1465C>T	c.(1465-1467)Cta>Tta	p.L489L	SPAM1_ENST00000460182.1_Silent_p.L489L|SPAM1_ENST00000439500.1_Silent_p.L489L|SPAM1_ENST00000223028.7_Silent_p.L489L|SPAM1_ENST00000402183.2_Silent_p.L489L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	489					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACCCTCCACACTATCTGCCAC	0.378000													5	111					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176415	142176415	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:142176415C>T	ENST00000519811.1	+	12	1750	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	DENND3_ENST00000262585.2_Silent_p.A480A|DENND3_ENST00000424248.1_Silent_p.A428A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	480										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGACATTGCCATGCCTGAGC	0.652000													27	114					0	0	1	0	0
FAM89B	23625	broad.mit.edu	37	11	65340869	65340869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65340869C>T	ENST00000449319.2	+	2	545	c.337C>T	c.(337-339)Cca>Tca	p.P113S	FAM89B_ENST00000530349.1_Silent_p.C109C|FAM89B_ENST00000316409.2_Intron			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	0										large_intestine(1)|urinary_tract(2)	3						CCTTGTTGTGCCAGCTGTGGG	0.627000													3	30					0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38003587	38003587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:38003587C>T	ENST00000296215.6	-	4	1025	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	318	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCCAACTGTGCCATCAGCACG	0.453000													5	64					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96443601	96443601	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:96443601C>T	ENST00000285979.6	+	1	224	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	CYP2C18_ENST00000339022.5_Missense_Mutation_p.L9F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GGCTCTGGTGCTCTGTCTCTC	0.502000													19	42					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635354	100635354	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:100635354C>T	ENST00000376335.3	+	1	1329	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	346					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCTTCGCGCGCTCCGAGAA	0.617000													10	69					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349515	65349515	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:65349515C>T	ENST00000309295.4	+	9	1637	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	458										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCCTGAGGCTCCTCCAAGGGG	0.652000													6	25					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553913	150553913	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:150553913C>T	ENST00000493429.1	+	4	939	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	AOC1_ENST00000360937.4_Silent_p.L119L|AOC1_ENST00000467291.1_Silent_p.L119L|AOC1_ENST00000416793.2_Silent_p.L119L					amine oxidase, copper containing 1																		TGTGGGGCCCCTGCCAGGGCC	0.607000													4	112					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64662536	64662536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64662536G>A	ENST00000421419.2	-	41	5846	c.5732C>T	c.(5731-5733)tCc>tTc	p.S1911F	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1909F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1909							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAGCAGGCTGGACGTGGCCTC	0.697000													31	44					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563703	219563703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:219563703G>A	ENST00000295709.3	+	26	3715	c.3436G>A	c.(3436-3438)Gca>Aca	p.A1146T	STK36_ENST00000440309.1_Missense_Mutation_p.A1146T|STK36_ENST00000392105.3_Missense_Mutation_p.A1125T|STK36_ENST00000392106.2_Missense_Mutation_p.A1125T	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1146					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTGCGTGGGGCACTGCAGAG	0.617000													30	58					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52484356	52484356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:52484356G>A	ENST00000219746.9	-	4	795	c.511C>T	c.(511-513)Cct>Tct	p.P171S	TOX3_ENST00000407228.3_Missense_Mutation_p.P166S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	171					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AGCTGGGCAGGAGGCATGACC	0.592000													27	80					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25455145	25455145	+	RNA	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:25455145C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA	NR_003305.1																						ACGCTGAGTCCCAGCCTAGGT	0.512000													113	354					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769647	91769647	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:91769647G>A	ENST00000394232.1	+	2	624	c.154G>A	c.(154-156)Ggt>Agt	p.G52S	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.G52S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	52					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CGAGTACCAGGGTATCCCTCA	0.562000													3	41					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19712055	19712055	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19712055C>T	ENST00000264203.3	-	4	730	c.237G>A	c.(235-237)aaG>aaA	p.K79K	CAPZB_ENST00000264202.6_Silent_p.K53K|CAPZB_ENST00000375142.1_Silent_p.K53K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000401084.2_Silent_p.K53K|CAPZB_ENST00000433834.1_Silent_p.K82K|CAPZB_ENST00000375144.1_Silent_p.K41K	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	53					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTCCCACCACCTTGTCTCTGG	0.532000													3	56					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4872886	4872886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:4872886C>T	ENST00000298375.7	+	2	130	c.59C>T	c.(58-60)aCc>aTc	p.T20I	AKR1E2_ENST00000532248.1_Missense_Mutation_p.T20I|AKR1E2_ENST00000334019.4_Missense_Mutation_p.T20I|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.T20I	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	20						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGGAAAGTGACCGAGGCAGTG	0.507000													21	71					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44285350	44285350	+	Silent	SNP	C	C	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:44285350C>A	ENST00000216177.4	-	4	693	c.561G>T	c.(559-561)tcG>tcT	p.S187S	PNPLA5_ENST00000597664.1_Silent_p.S187S|PNPLA5_ENST00000593866.1_Silent_p.S73S|PNPLA5_ENST00000381198.2_Silent_p.S73S	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	187					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CATGGAAGGGCGACACCGTGA	0.572000													39	84					1.15505e-17	1.16103e-17	1	1	0
MAGT1	84061	broad.mit.edu	37	X	77130992	77130992	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:77130992G>A	ENST00000358075.6	-	2	387	c.301C>T	c.(301-303)Ccg>Tcg	p.P101S	MAGT1_ENST00000373336.3_Missense_Mutation_p.P69S	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	69					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TAATTTCTCGGTGGGGCTTTC	0.413000													41	209					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238765	3238765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:3238765C>T	ENST00000217939.6	-	5	5115	c.4961G>A	c.(4960-4962)gGg>gAg	p.G1654E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1654						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGCAAAGCCCCAGAAGGATA	0.438000													8	224					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171472014	171472014	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:171472014C>T	ENST00000176763.5	-	19	3122	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	927							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTTCAGATCCTCTTCCAGA	0.592000													7	31					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113332949	113332949	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113332949C>T	ENST00000263331.5	+	15	3631	c.3051C>T	c.(3049-3051)gcC>gcT	p.A1017A	POLR1B_ENST00000541869.1_Silent_p.A1055A|POLR1B_ENST00000417433.2_Silent_p.A961A|POLR1B_ENST00000409894.3_Silent_p.A834A|POLR1B_ENST00000537335.1_Silent_p.A806A	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1017					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGGAGCCCGAGACAGAG	0.488000													31	40					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101395747	101395747	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:101395747C>T	ENST00000312938.4	-	1	592	c.12G>A	c.(10-12)gaG>gaA	p.E4E	ZBTB11_ENST00000461821.1_Silent_p.E4E|ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11-AS1_ENST00000609682.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTAGCTTTCCTCGCTTGACA	0.662000													4	42					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24445816	24445816	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:24445816C>T	ENST00000230036.1	-	20	2088	c.1978G>A	c.(1978-1980)Ggg>Agg	p.G660R		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	660						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTCAGAGTCCCATTCATCAGT	0.473000													9	53					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74027042	74027042	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:74027042C>T	ENST00000358602.4	-	3	687	c.571G>A	c.(571-573)Gat>Aat	p.D191N	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D191N|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D78N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	191					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTTACCATCAGCCGTGGAC	0.413000													16	44					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19524285	19524285	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:19524285G>A	ENST00000375267.2	-	7	775	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	UBR4_ENST00000375226.2_Missense_Mutation_p.R258C|UBR4_ENST00000375217.2_Missense_Mutation_p.R258C|UBR4_ENST00000375254.3_Missense_Mutation_p.R258C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	258					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAACATACACGCAGTAGCTTC	0.413000													60	88					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146769	185146769	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:185146769C>T	ENST00000265026.3	+	2	734	c.400C>T	c.(400-402)Cta>Tta	p.L134L	MAP3K13_ENST00000424227.1_Silent_p.L134L|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	134					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTTGAAGGACTATTTGGATG	0.463000													7	50					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343380	118343380	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:118343380G>A	ENST00000534358.1	+	3	1529	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	KMT2A_ENST00000389506.5_Silent_p.E502E|KMT2A_ENST00000354520.4_Silent_p.E502E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTCCTGAGGAGCGGAGCGATA	0.502000													65	120					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17594442	17594442	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:17594442G>A	ENST00000375460.3	+	6	677	c.637G>A	c.(637-639)Gtc>Atc	p.V213I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	213					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACGGGCACAGGTCTTCCACAT	0.582000													6	101					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45497523	45497523	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:45497523G>A	ENST00000361462.2	+	10	3832	c.3649G>A	c.(3649-3651)Gca>Aca	p.A1217T	FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.A1217T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1217							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGAGAAAATGGCATCTGAAAG	0.318000													31	60					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425711	71425711	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:71425711C>T	ENST00000373657.1	-	3	3139	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S969N			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	969					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TAAAGACTGACTGGAAAAATT	0.428000													24	54					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491372	151491372	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:151491372C>T	ENST00000271636.7	+	2	510	c.377C>T	c.(376-378)gCc>gTc	p.A126V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	120	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCTGGGGCCTACTGGAAT	0.577000													3	36					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074217	32074217	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:32074217G>A	ENST00000438447.1	+	18	3393	c.3005G>A	c.(3004-3006)aGg>aAg	p.R1002K	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1002K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1002					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATGACCCGAGGCGTGTCTCA	0.572000													6	37					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411744	126411744	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:126411744C>T	ENST00000394329.3	+	17	13780	c.13767C>T	c.(13765-13767)ccC>ccT	p.P4589P	FAT4_ENST00000335110.5_Silent_p.P2830P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4589					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGAAAACCCCTACCTTATCT	0.473000													5	66					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217775	130217775	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:130217775G>A	ENST00000276211.5	+	4	732	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ARHGAP36_ENST00000370922.1_Silent_p.K117K|ARHGAP36_ENST00000370921.1_5'UTR	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	129					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCGCCGCAAGCATCTTGAAC	0.567000													41	103					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473845	74473845	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74473845G>A	ENST00000591885.1	-	7	1245	c.695C>T	c.(694-696)aCc>aTc	p.T232I	RHBDF2_ENST00000313080.4_Missense_Mutation_p.T261I|RHBDF2_ENST00000389760.4_Missense_Mutation_p.T232I			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	261					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCGCTGTCCGGTGGCATCCAG	0.637000													8	81					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12024243	12024243	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:12024243C>T	ENST00000196061.4	+	12	1241	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	PLOD1_ENST00000376369.3_Missense_Mutation_p.A452V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	405					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AACGTCATTGCCCCGCTGATG	0.617000													6	205					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951884	37951884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:37951884C>T	ENST00000436072.2	-	4	1005	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	210	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCATTGCAGCCACTCCTCTGC	0.408000													8	170					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81964384	81964384	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:81964384C>T	ENST00000336735.4	-	10	1096	c.980G>A	c.(979-981)aGt>aAt	p.S327N		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	327	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CGAGATATCACTAGCAACTGA	0.423000													3	45					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74007866	74007866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:74007866C>T	ENST00000301607.3	-	20	2808	c.2555G>A	c.(2554-2556)aGc>aAc	p.S852N	EVPL_ENST00000586740.1_Missense_Mutation_p.S874N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	852	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCTTGGATGCTCTCTTGCAG	0.627000													3	31					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26671580	26671580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:26671580C>T	ENST00000226225.2	+	7	1172	c.905C>T	c.(904-906)aCt>aTt	p.T302I	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.T198I	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	302					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGCTACAGCACTTACGATGAC	0.632000													19	27					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62165555	62165555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:62165555C>T	ENST00000261517.5	-	78	10541	c.10468G>A	c.(10468-10470)Gca>Aca	p.A3490T	VPS13C_ENST00000249837.3_Missense_Mutation_p.A3447T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3490T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A3447T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3490					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTAATTGCTGCCAAACCTTTC	0.443000													50	92					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62916167	62916167	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:62916167G>A	ENST00000339950.4	+	9	2688	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	USP1_ENST00000371146.1_Missense_Mutation_p.E625K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	625					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGGTAAGCCAGAACCATTGAA	0.378000													13	30					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103498106	103498106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:103498106G>A	ENST00000226574.4	+	7	948	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.A160T|NFKB1_ENST00000394820.4_Missense_Mutation_p.A160T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	160	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AATGACAGAGGCGTGTATAAG	0.483000													4	110					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78927803	78927803	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:78927803G>A	ENST00000261751.3	-	2	293	c.182C>T	c.(181-183)tCc>tTc	p.S61F	CHRNB4_ENST00000412074.2_Missense_Mutation_p.S61F|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	61					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CTGGGCCAGGGAGAGCTGCAG	0.582000													34	80					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008430	130008430	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:130008430C>T	ENST00000485477.1	+	12	2432	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	CPA5_ENST00000393213.3_Missense_Mutation_p.P435S|CPA5_ENST00000474905.1_Missense_Mutation_p.P435S|CPA5_ENST00000466363.2_Missense_Mutation_p.P435S|CPA5_ENST00000461828.1_Missense_Mutation_p.P435S|CPA5_ENST00000431780.2_3'UTR|CPA5_ENST00000355388.3_Missense_Mutation_p.P435S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	435					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTGAATCACCCCTACTAGCA	0.612000													23	96					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25059528	25059528	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:25059528G>A	ENST00000376709.4	-	3	827	c.564C>T	c.(562-564)taC>taT	p.Y188Y	VSX1_ENST00000424574.1_Silent_p.Y188Y|VSX1_ENST00000429762.3_Silent_p.Y188Y|VSX1_ENST00000444511.2_Silent_p.Y188Y|VSX1_ENST00000451258.1_Silent_p.Y188Y|VSX1_ENST00000376707.3_Silent_p.Y188Y	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	188					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACACATCAGGGTAGTGGGCCT	0.552000													16	117					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6533194	6533194	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:6533194G>A	ENST00000377748.1	-	10	1564	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.T279I|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.T348I|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.T358I|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.T356I|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.T316I|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.T279I|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.T335I|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.T279I|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.T279I	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	335					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCTGTAGGTGTGCAGCTT	0.632000													5	18					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128890460	128890460	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:128890460C>T	ENST00000371106.3	+	14	1488	c.1296C>T	c.(1294-1296)agC>agT	p.S432S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	432					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCCTTCTCAGCCCGACCAAGG	0.622000													17	44					0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50236663	50236663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50236663C>T	ENST00000333924.4	-	1	249	c.208G>A	c.(208-210)Ggg>Agg	p.G70R		NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	70	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						ACGTCGAGCCCCAGAATCGGC	0.627000													4	99					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271497	48271497	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:48271497G>A	ENST00000225964.5	-	24	1780	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	554	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACAGGGGGGCCAGTTTTGC	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						7	54					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21955741	21955741	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:21955741G>A	ENST00000405508.1	+	4	483	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TOX4_ENST00000262709.3_Silent_p.Q69Q|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Silent_p.Q46Q			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	69						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CCTCTTCACAGGATGGCAGTT	0.547000													30	141					0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27228138	27228138	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:27228138G>A	ENST00000394901.3	-	3	794	c.402C>T	c.(400-402)gaC>gaT	p.D134D	DHRS13_ENST00000378895.4_Silent_p.D184D|DHRS13_ENST00000426464.2_Silent_p.D103D			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	184						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCACTGGGCGGTCCAGGCGTT	0.627000													4	92					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17913117	17913117	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:17913117C>T	ENST00000448223.2	-	6	641	c.372G>A	c.(370-372)agG>agA	p.R124R	SMC6_ENST00000381272.4_Silent_p.R150R|SMC6_ENST00000402989.1_Silent_p.R124R|SMC6_ENST00000351948.4_Silent_p.R124R	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	124					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTCTGTTCCTCAATGTTA	0.363000													9	1175					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583443	2583443	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:2583443G>A	ENST00000340611.4	-	5	840	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	195					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GATCTTCTGGGCACACGCGGG	0.672000													13	110					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43620971	43620971	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:43620971G>A	ENST00000305641.5	-	1	1832	c.1717C>T	c.(1717-1719)Ctc>Ttc	p.L573F	LCMT2_ENST00000544735.1_Missense_Mutation_p.L152F|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	573					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GACTCCCAGAGGAATCCACAA	0.532000													7	83					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506690	155506690	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:155506690C>T	ENST00000403106.3	-	5	1969	c.1891G>A	c.(1891-1893)Ggt>Agt	p.G631S	FGA_ENST00000302053.3_Splice_Site_p.D631N	NM_021871.2	NP_068657.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	631	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	gtgtggatacctctgaCAGGG	0.483000													7	32					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171939303	171939303	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:171939303G>A	ENST00000442919.2	-	3	789	c.174C>T	c.(172-174)gaC>gaT	p.D58D	TLK1_ENST00000431350.2_Silent_p.D106D|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000360843.3_Silent_p.D106D|TLK1_ENST00000521943.1_Silent_p.D58D	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	106					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTGATTCTTTGTCACTTAAAG	0.294000													5	163					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151092993	151092993	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:151092993G>A	ENST00000334493.6	-	3	1025	c.595C>T	c.(595-597)Cta>Tta	p.L199L	WDR86_ENST00000477459.1_Silent_p.L71L|WDR86_ENST00000463000.1_5'UTR|WDR86_ENST00000469830.2_Silent_p.L199L	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	199										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTAGCACTAGGCACAGCACT	0.682000													5	18					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554496	182554496	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:182554496G>A	ENST00000367559.3	-	2	1699	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	RNASEL_ENST00000444138.1_Silent_p.T482T|RNASEL_ENST00000539397.1_Silent_p.T482T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	482	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GATCCTGGTGGGTGTATCCAC	0.408000													30	56					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960258	33960258	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:33960258G>A	ENST00000361328.3	+	8	2467	c.2314G>A	c.(2314-2316)Ggg>Agg	p.G772R		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	772					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGAATGTGGGAAAAGCTT	0.423000													7	109					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124957530	124957530	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:124957530C>T	ENST00000356219.3	-	5	714	c.559G>A	c.(559-561)Gag>Aag	p.E187K	NCOR2_ENST00000397355.1_Missense_Mutation_p.E187K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E187K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E187K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E187K|NCOR2_ENST00000404121.2_5'UTR	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	187					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATCTGCTGCTCTACCATGGTG	0.587000													4	150					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9656061	9656061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:9656061G>A	ENST00000217964.7	+	7	1002	c.362G>A	c.(361-363)gGc>gAc	p.G121D	TBL1X_ENST00000407597.2_Missense_Mutation_p.G121D|TBL1X_ENST00000424279.1_Missense_Mutation_p.G70D|TBL1X_ENST00000380961.1_Missense_Mutation_p.G70D|TBL1X_ENST00000536365.1_Missense_Mutation_p.G70D	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	121	F-box-like.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCCCAGGATGGCACAGTGTTC	0.632000													19	29					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54966798	54966798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:54966798C>T	ENST00000394636.4	+	2	975	c.638C>T	c.(637-639)cCc>cTc	p.P213L	IRX5_ENST00000558597.1_Missense_Mutation_p.P147L|IRX5_ENST00000320990.5_Missense_Mutation_p.P213L|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	213					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AAGGGCGACCCCGAGGGCCCC	0.652000													11	131					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796575	57796575	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:57796575G>A	ENST00000309042.7	+	4	1865	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	517	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAAAACTAAGAAAAGCAAAA	0.378000													5	47					0	0	1	0	0
POLE4	56655	broad.mit.edu	37	2	75186533	75186533	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:75186533C>T	ENST00000483063.1	+	2	467	c.279C>T	c.(277-279)acC>acT	p.T93T	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	93					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			lung(1)	1						AAAGGAAAACCCTTCAGAGGA	0.498000													3	43					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47098766	47098766	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:47098766C>T	ENST00000377107.2	+	3	657	c.303C>T	c.(301-303)cgC>cgT	p.R101R	USP11_ENST00000218348.3_Silent_p.R144R			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	144	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TAAACTGGCGCCTCAAGGAGG	0.572000													5	13					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152755067	152755067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:152755067C>T	ENST00000367255.5	-	34	4925	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	SYNE1_ENST00000367253.4_Missense_Mutation_p.E1442K|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1512K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1449K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1442K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1449K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1442					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCACCATTTCCATGGTTTTA	0.333000										HNSCC(10;0.0054)			20	30					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21788209	21788209	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:21788209G>A	ENST00000328843.6	+	53	8574	c.8543G>A	c.(8542-8544)aGc>aAc	p.S2848N	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2841N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2848	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCGCATCAGCCGGATCTTA	0.502000									Kartagener syndrome				10	56					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94845348	94845348	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:94845348G>A	ENST00000358746.2	-	29	3262	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	988							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTTCGTTTAAGTAACCCAACA	0.348000													10	28					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227920725	227920725	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:227920725C>T	ENST00000366758.3	-	5	963	c.964G>A	c.(964-966)Gac>Aac	p.D322N	JMJD4_ENST00000438896.2_Missense_Mutation_p.D322N|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	322	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GAGATGGTGTCATCCTGGAAG	0.622000													4	19					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3623248	3623248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:3623248G>A	ENST00000407445.3	+	2	96	c.49G>A	c.(49-51)Gac>Aac	p.D17N	RPS7_ENST00000304921.5_Missense_Mutation_p.D17N|RPS7_ENST00000403564.1_Missense_Mutation_p.D17N|RPS7_ENST00000406376.1_Missense_Mutation_p.D17N			P62081	RS7_HUMAN	ribosomal protein S7	17					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CGAGAAGCCGGACGAGTTCGA	0.672000													17	38					0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538860	23538860	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:23538860C>T	ENST00000380871.4	-	2	616	c.579G>A	c.(577-579)aaG>aaA	p.K193K	NKX3-1_ENST00000523261.1_Silent_p.K118K	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	193					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AAGAGGAGTGCTTCTCCAAGT	0.547000													11	100					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139838904	139838904	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:139838904G>A	ENST00000297183.6	+	9	1760	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ANKHD1_ENST00000360839.2_Missense_Mutation_p.G546R|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G546R|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G535R|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G546R	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCAGGAGGGACACCTGGA	0.418000													18	48					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119167699	119167699	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:119167699C>T	ENST00000264033.4	+	13	2484	c.2108C>T	c.(2107-2109)cCc>cTc	p.P703L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	703	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TACATGACTCCCTCTTCCAGG	0.473000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				5	92					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90058536	90058536	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:90058536G>A	ENST00000330947.2	+	6	2706	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.E782E|LRRC8B_ENST00000439853.1_Silent_p.E782E	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	782						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTGTTGAGGAGAACTTGCTCA	0.413000													38	64					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645502	29645502	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:29645502G>A	ENST00000247270.3	-	3	935	c.599C>T	c.(598-600)cCt>cTt	p.P200L	EVI2A_ENST00000461237.1_Missense_Mutation_p.P177L|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.A116A|EVI2A_ENST00000462804.2_Missense_Mutation_p.P177L	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	177						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		ATTGCTTCTAGGCTGACGCTT	0.443000													21	36					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387725	3387725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:3387725G>A	ENST00000011898.5	+	4	363	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	TSPAN9_ENST00000407263.1_Missense_Mutation_p.G68S|TSPAN9_ENST00000537971.1_Missense_Mutation_p.G68S|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	68						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CATGGTGACGGGCTTCCTCGG	0.577000													4	91					0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179308015	179308015	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:179308015G>A	ENST00000325748.4	-	5	693	c.493C>T	c.(493-495)Cta>Tta	p.L165L	PRKRA_ENST00000487082.1_Silent_p.L140L|PRKRA_ENST00000432031.2_Silent_p.L154L|PRKRA_ENST00000438687.3_Silent_p.L52L	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	165	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATGACTCTAGCCTGCAAATT	0.363000													21	54					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101371480	101371480	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:101371480G>A	ENST00000312938.4	-	10	3084	c.2504C>T	c.(2503-2505)gCt>gTt	p.A835V		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGAACAAAGCTTTTTCATA	0.373000													5	109					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718412	46718412	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:46718412C>T	ENST00000318962.4	-	17	1941	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E620K|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	620					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCAGGGCCTCCTGCAGGTCC	0.657000													27	56					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793580	4793580	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:4793580G>A	ENST00000269856.3	+	1	1853	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	572					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGACTGCGGGGCCGACCCGGA	0.607000													20	27					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744897	42744897	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:42744897C>T	ENST00000409122.2	+	5	1760	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	C17orf104_ENST00000359945.3_Missense_Mutation_p.P540S|C17orf104_ENST00000409464.1_Missense_Mutation_p.P374S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	540										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCAAGAAAACCCTTCAGCATT	0.358000													3	38					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123678935	123678935	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:123678935C>T	ENST00000606320.1	-	13	2445	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D717N|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D595N|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D595N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	595					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTACTTACATCTTGAAACATT	0.299000													6	41					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940705	144940705	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:144940705G>A	ENST00000525985.1	-	2	6788	c.6717C>T	c.(6715-6717)cgC>cgT	p.R2239R				P58107	EPIPL_HUMAN	epiplakin 1	2239						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTTCTCCTGGCGGCCGGGCT	0.701000													5	138					0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58058515	58058515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58058515G>A	ENST00000325134.5	-	3	1157	c.1001C>T	c.(1000-1002)aCt>aTt	p.T334I	ZNF550_ENST00000506609.2_Missense_Mutation_p.T325I|ZNF550_ENST00000457177.1_Missense_Mutation_p.T366I|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCTCCCCAGTGTGAATCCG	0.527000													6	73					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100652904	100652904	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100652904C>T	ENST00000218516.3	-	7	1204	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	395					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TCATAGAACCCTAGCTTCCTT	0.448000													32	53					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047791	86047791	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:86047791T>C	ENST00000451137.2	+	3	682	c.458T>C	c.(457-459)gTt>gCt	p.V153A		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	153	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		CTGGTCAAAGTTACCGGGCAG	0.582000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	89					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316692	40316692	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:40316692C>T	ENST00000593685.1	-	11	2021	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	DYRK1B_ENST00000430012.2_Missense_Mutation_p.G478E|DYRK1B_ENST00000348817.3_Missense_Mutation_p.G490E|DYRK1B_ENST00000597639.1_Missense_Mutation_p.G490E|DYRK1B_ENST00000323039.5_Missense_Mutation_p.G518E			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	518	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CACATCACCCCCTGCCCAGGG	0.652000													6	21					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700006	700006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:700006G>A	ENST00000549091.1	+	3	210	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	WDR90_ENST00000293879.4_Missense_Mutation_p.G40S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	40										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCCTGAAGGGCGCCGTGTA	0.657000													39	73					0	0	1	0	0
PIR	8544	broad.mit.edu	37	X	15474123	15474123	+	Missense_Mutation	SNP	G	G	A	rs147114611		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:15474123G>A	ENST00000380421.3	-	5	788	c.328C>T	c.(328-330)Cca>Tca	p.P110S	PIR_ENST00000380420.5_Missense_Mutation_p.P110S|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	110					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CCATGGGCTGGCTCCTCTGAG	0.512000													10	256					0	0	1	0	0
LCN15	389812	broad.mit.edu	37	9	139658446	139658446	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:139658446A>G	ENST00000316144.5	-	2	136	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	38					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						GAGACCACGTACCAGAGGCCT	0.647000													25	68					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267166	124267166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124267166C>T	ENST00000395571.3	-	3	1638	c.1021G>A	c.(1021-1023)Gtt>Att	p.V341I	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.V341I|ZHX1_ENST00000297857.2_Missense_Mutation_p.V341I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	341	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCCAACTAACACCATGTTTT	0.398000													56	137					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25260782	25260782	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:25260782C>T	ENST00000354454.3	+	21	2117	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	LRMP_ENST00000548766.1_Missense_Mutation_p.L430F|LRMP_ENST00000547044.1_Missense_Mutation_p.L430F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	486					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GGCAACAAATCTCAAGTCCTC	0.383000													5	86					0	0	1	0	0
KLF7	8609	broad.mit.edu	37	2	208030259	208030259	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:208030259C>T	ENST00000309446.6	-	1	410	c.34G>A	c.(34-36)Gag>Aag	p.E12K	KLF7_ENST00000458272.1_Missense_Mutation_p.E12K|KLF7_ENST00000423015.1_Missense_Mutation_p.E12K|KLF7_ENST00000421199.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	12					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGTTGTAGCTCCTGGAATATA	0.507000													38	58					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37374066	37374066	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:37374066C>T	ENST00000233057.4	-	4	492	c.170G>A	c.(169-171)gGt>gAt	p.G57D	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G57D|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G57D	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	57	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTTGATCTACCTTCACCTTC	0.323000													29	33					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3543950	3543950	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:3543950G>A	ENST00000262919.5	+	10	1794	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	ATRN_ENST00000446916.2_Missense_Mutation_p.D576N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	576					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CACACACAATGACACATCTAT	0.433000													65	103					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61846475	61846475	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:61846475C>T	ENST00000280772.2	-	30	3899	c.3708G>A	c.(3706-3708)ggG>ggA	p.G1236G	ANK3_ENST00000355288.2_Silent_p.G370G|ANK3_ENST00000373827.2_Silent_p.G1230G|ANK3_ENST00000503366.1_Silent_p.G1237G	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGTAGTGTCCCCTTTGTATC	0.443000													25	56					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31852737	31852737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:31852737C>T	ENST00000543095.2	-	10	1770	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	HEATR5A_ENST00000389961.3_Missense_Mutation_p.G523E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G529E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G236E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G523E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	523							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTTGCCTTTTCCATGAGGAAT	0.373000													26	149					0	0	1	0	0
ACBD6	84320	broad.mit.edu	37	1	180471343	180471343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:180471343C>T	ENST00000367595.3	-	1	746	c.59G>A	c.(58-60)aGc>aAc	p.S20N		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	20						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GTCCCCTGAGCTCAGCTCTCC	0.652000													12	24					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378322	138378322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:138378322C>T	ENST00000356818.2	+	4	2515	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	PPP1R26_ENST00000605286.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P656S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P656S|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P656S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	656						nucleolus	protein binding										CGCCAGGGGCCCTGGCGACAC	0.652000													10	34					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526445	23526445	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:23526445C>T	ENST00000296682.3	+	11	1430	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	416					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGAACTTCCCAGGACCAT	0.488000										HNSCC(3;0.000094)			24	46					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80011896	80011896	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:80011896G>A	ENST00000392358.2	+	3	748	c.399G>A	c.(397-399)gaG>gaA	p.E133E	GPS1_ENST00000578552.1_Silent_p.E93E|GPS1_ENST00000306823.6_Silent_p.E93E|GPS1_ENST00000355130.2_Silent_p.E133E|GPS1_ENST00000320548.4_Silent_p.E77E	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	93					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGTACGAGGAGATCCACCGCA	0.632000													10	11					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374545	180374545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:180374545C>T	ENST00000231229.4	+	4	941	c.707C>T	c.(706-708)gCt>gTt	p.A236V	BTNL8_ENST00000400707.3_Missense_Mutation_p.A111V|BTNL8_ENST00000340184.4_Missense_Mutation_p.A236V|BTNL8_ENST00000505126.1_Missense_Mutation_p.A29V|BTNL8_ENST00000533815.2_Missense_Mutation_p.A52V|BTNL8_ENST00000508408.1_Missense_Mutation_p.A236V|BTNL8_ENST00000511704.1_Missense_Mutation_p.A120V	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	236						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCACCTGGCTACCAAAGTA	0.393000													116	76					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139482	161139482	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:161139482C>T	ENST00000308192.9	+	8	1007	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	315	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTTCCCCTGCAAGTAA	0.498000													23	59					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105833973	105833973	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:105833973G>A	ENST00000353479.5	-	6	638	c.348C>T	c.(346-348)aaC>aaT	p.N116N	COL17A1_ENST00000393211.3_Silent_p.N116N|COL17A1_ENST00000369733.3_Silent_p.N116N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	116	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCGGAGAAGAGTTGCCACTGG	0.478000													32	73					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74288930	74288930	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:74288930G>A	ENST00000253577.3	-	12	1598	c.1574C>T	c.(1573-1575)cCt>cTt	p.P525L	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.P524L|ABCB7_ENST00000339447.4_Missense_Mutation_p.P484L	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	524	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ACCCTTTTGAGGCTCATAGAA	0.408000													33	70					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948383	71948383	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:71948383C>T	ENST00000298229.2	+	26	3299	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	INPPL1_ENST00000538751.1_Missense_Mutation_p.P790L|INPPL1_ENST00000541756.1_Missense_Mutation_p.P790L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1032	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACCGGCACCCTCGTGTGGGA	0.632000													4	75					0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145700632	145700632	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:145700632C>T	ENST00000377317.4	-	2	765	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	FOXH1_ENST00000525197.1_Intron	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	63					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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 factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACGGCCTGGACCTGACGGATG	0.662000													15	18					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061266	38061266	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:38061266G>A	ENST00000250448.2	-	2	784	c.723C>T	c.(721-723)ggC>ggT	p.G241G	FOXA1_ENST00000540786.1_Silent_p.G208G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	241					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCCAGTAGGAGCCCTTGCCCG	0.647000													14	21					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871324	57871324	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:57871324G>A	ENST00000393797.2	-	7	1079	c.887C>T	c.(886-888)cCc>cTc	p.P296L	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P225L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P225L|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P41L|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P304L|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P225L|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	225					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.P225H(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCAGAGTTGGGGTCCAGGTG	0.642000													21	45					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4033153	4033153	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:4033153G>A	ENST00000262971.2	+	8	1078	c.963G>A	c.(961-963)cgG>cgA	p.R321R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	321					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGTGTGCGGGTGTCCCTCA	0.701000													4	59					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35391792	35391792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:35391792G>A	ENST00000311565.4	+	7	843	c.494G>A	c.(493-495)gGg>gAg	p.G165E	PPARD_ENST00000337400.2_Missense_Mutation_p.G165E|PPARD_ENST00000418635.2_Missense_Mutation_p.G67E|PPARD_ENST00000360694.3_Missense_Mutation_p.G165E|PPARD_ENST00000444397.1_Missense_Mutation_p.G165E|PPARD_ENST00000448077.2_Missense_Mutation_p.G126E|PPARD_ENST00000540939.1_Missense_Mutation_p.G62E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	165					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCAAACGAGGGGAGCCAGTAC	0.567000													17	49					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82267593	82267593	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:82267593C>T	ENST00000376520.4	+	7	1304	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TLE4_ENST00000376552.2_Missense_Mutation_p.A159V|TLE4_ENST00000376544.3_Missense_Mutation_p.A159V|TLE4_ENST00000265284.6_Missense_Mutation_p.A134V|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.A159V	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCCCCCTGCCATTCCACCC	0.547000													7	134					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985353	108985353	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:108985353G>A	ENST00000392806.3	-	2	975	c.807C>T	c.(805-807)ccC>ccT	p.P269P		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	269						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCTTTCGGGGGGACCCACTG	0.672000													48	71					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171678627	171678627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:171678627G>A	ENST00000358196.3	+	3	663	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.G38E|GAD1_ENST00000375272.1_Missense_Mutation_p.G38E	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	38					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGGCCCATGGATGCACCAGA	0.642000													8	8					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29693820	29693820	+	Splice_Site	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:29693820G>A	ENST00000376861.1	+	7	1420	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Splice_Site_p.A346T|HLA-F_ENST00000334668.4_Splice_Site_p.V346M|HLA-F_ENST00000434407.2_Splice_Site_p.V254M|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	346					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCAGGCTGCAGGTAAGATGAA	0.527000													4	80					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504287	220504287	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220504287G>A	ENST00000358055.3	+	20	3619	c.3107G>A	c.(3106-3108)gGg>gAg	p.G1036E	SLC4A3_ENST00000317151.3_Missense_Mutation_p.G1036E|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G1063E|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G1063E|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G1036E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1036	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTGGGGGGGCTCTGTGGG	0.642000													19	41					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684811	27684811	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:27684811C>T	ENST00000493901.1	-	22	3016		c.e22-1		MAP3K6_ENST00000357582.2_Splice_Site|MAP3K6_ENST00000374040.3_Splice_Site	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6						activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGGGGCATCTGAGGGAGGG	0.647000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	38					0	0	1	0	0
CPLX1	10815	broad.mit.edu	37	4	780364	780364	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:780364C>T	ENST00000304062.6	-	4	561	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CPLX1_ENST00000505203.1_Silent_p.E89E	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	110					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		CGTCCTCCTCCTCCACCTCGT	0.711000													9	9					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13251177	13251177	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:13251177C>T	ENST00000276297.4	-	4	1608	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	DLC1_ENST00000316609.5_Missense_Mutation_p.G400E|DLC1_ENST00000511869.1_Missense_Mutation_p.G400E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	400					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|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						GGTATCTGCTCCACTTTCAGA	0.438000													30	53					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090685	34090685	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:34090685C>T	ENST00000397527.1	+	30	5208	c.4488C>T	c.(4486-4488)gtC>gtT	p.V1496V	CEP250_ENST00000342580.4_Silent_p.V1440V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1496	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCATGGCCGTCCAGGAGCGAG	0.527000													17	32					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49580195	49580195	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:49580195G>A	ENST00000371175.4	-	6	886	c.860C>T	c.(859-861)gCg>gTg	p.A287V	RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	287					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCCATATCCGCACAAGTGCC	0.473000													4	37					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160453618	160453618	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160453618C>T	ENST00000356956.1	+	8	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	306					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AATCCAACTGCCGCTATGAAA	0.428000													24	70					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46800349	46800349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46800349C>T	ENST00000377670.4	+	1	47	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTGGGGCTGCAGCGCGCAAG	0.711000													17	26					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15122291	15122291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:15122291C>T	ENST00000253699.3	-	10	1472	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E287K|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G206E	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	287	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCAACTTTCTCCATGCAAAGT	0.393000													10	89					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27758565	27758565	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:27758565G>A	ENST00000295743.4	-	6	2260	c.2057C>T	c.(2056-2058)cCc>cTc	p.P686L	EOMES_ENST00000449599.1_Missense_Mutation_p.P705L|EOMES_ENST00000537516.1_Missense_Mutation_p.P410L			O95936	EOMES_HUMAN	eomesodermin	686	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AACTCTTTAGGGAGTTGTGTA	0.368000													4	89					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45480115	45480115	+	Missense_Mutation	SNP	C	C	T	rs114554762		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:45480115C>T	ENST00000371438.1	+	6	1350	c.992C>T	c.(991-993)gCc>gTc	p.A331V	RUNX2_ENST00000576263.1_Missense_Mutation_p.A331V|RUNX2_ENST00000359524.5_Missense_Mutation_p.A317V|RUNX2_ENST00000371432.3_Missense_Mutation_p.A317V|RUNX2_ENST00000371436.6_Missense_Mutation_p.A331V|RUNX2_ENST00000541979.1_Missense_Mutation_p.A399V|RUNX2_ENST00000352853.5_Missense_Mutation_p.A399V|RUNX2_ENST00000465038.2_Missense_Mutation_p.A331V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	331	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCTTCCTGCCATCACCGAT	0.587000													12	51					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734291	42734291	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:42734291G>A	ENST00000441594.1	-	12	1728	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	HHATL_ENST00000310417.5_Silent_p.T489T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	489					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCAGTGCCAAGGTTCGCTCAC	0.587000													6	31					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132400641	132400641	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:132400641C>T	ENST00000277458.4	-	6	859	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	ASB6_ENST00000277459.4_Silent_p.R195R|ASB6_ENST00000450050.2_Missense_Mutation_p.A153T	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	232					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ATCATCTGGGCCTCCTCTTTG	0.612000													4	59					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220087173	220087173	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:220087173C>T	ENST00000409618.1	-	12	2288		c.e12-1		ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000396761.2_Splice_Site|ATG9A_ENST00000361242.4_Splice_Site			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A						autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTCAGGGGCTATGAACGAA	0.572000													26	57					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135310054	135310054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:135310054C>T	ENST00000285968.6	+	32	4648	c.4622C>T	c.(4621-4623)aCc>aTc	p.T1541I		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1541					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCTTACTCACCCCACAGCCT	0.413000													8	187					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077163	179077163	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:179077163G>A	ENST00000502732.1	-	12	3442	c.3239C>T	c.(3238-3240)tCa>tTa	p.S1080L	ABL2_ENST00000504405.1_Missense_Mutation_p.S941L|ABL2_ENST00000511413.1_Missense_Mutation_p.S977L|ABL2_ENST00000367623.4_Missense_Mutation_p.S1059L|ABL2_ENST00000507173.1_Missense_Mutation_p.S956L|ABL2_ENST00000512653.1_Missense_Mutation_p.S1065L|ABL2_ENST00000344730.3_Missense_Mutation_p.S962L|ABL2_ENST00000408940.3_Missense_Mutation_p.S1044L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1080	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532000			T	ETV6	AML								4	44					0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37635515	37635515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:37635515C>T	ENST00000328195.3	+	8	788	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	241							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TACAAATGTCCGAATAGGAAG	0.507000													4	103					0	0	1	0	0
CCDC121	79635	broad.mit.edu	37	2	27850587	27850587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27850587C>T	ENST00000324364.3	-	2	260	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.R189Q|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	27										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TAACTTTTCTCGGTGTAGCTC	0.438000													10	164					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141957487	141957487	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:141957487C>T	ENST00000552471.1	-	1	360		c.e1+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58						proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACACTCACCAGTCAGATT	0.448000													33	114					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47603938	47603938	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:47603938C>T	ENST00000263774.4	+	6	627	c.545C>T	c.(544-546)cCt>cTt	p.P182L	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	182					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GCTAACCACCCTGATCTAAGA	0.483000													20	268					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577235	71577235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:71577235C>T	ENST00000409544.1	+	2	1781	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.P384L|ZNF638_ENST00000355812.3_Missense_Mutation_p.P384L|ZNF638_ENST00000377802.2_Missense_Mutation_p.P384L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	384					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTCGGTCTCCCTTTGGTATT	0.403000													8	136					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520296	52520296	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:52520296C>T	ENST00000216286.5	-	5	1429		c.e5+1		NID2_ENST00000541773.1_Splice_Site	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)							basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AATGCACTCACCCTCGGTGTT	0.448000													6	134					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753776	35753776	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:35753776G>A	ENST00000440995.2	+	24	3366	c.3366G>A	c.(3364-3366)gcG>gcA	p.A1122A	SPEF2_ENST00000356031.3_Silent_p.A1127A|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1127					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.A1127A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAAGAGGCGGAGCAGGAGC	0.493000													15	102					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261203	32261203	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:32261203C>T	ENST00000375015.4	-	26	1444	c.1244G>A	c.(1243-1245)aGt>aAt	p.S415N	C6orf10_ENST00000375007.4_Missense_Mutation_p.S414N|C6orf10_ENST00000442822.2_Missense_Mutation_p.S407N|C6orf10_ENST00000527965.1_Missense_Mutation_p.S400N|C6orf10_ENST00000447241.2_Missense_Mutation_p.S416N|C6orf10_ENST00000533191.1_Missense_Mutation_p.S414N			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	416						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTTCAACTCACTCTTCTCTAC	0.483000													8	150					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214830638	214830638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:214830638C>T	ENST00000366955.3	+	18	9016	c.8848C>T	c.(8848-8850)Cca>Tca	p.P2950S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3046	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACCTGCTACCCCAGAGAGCTT	0.458000													6	24					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872958	35872958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:35872958C>T	ENST00000216797.5	-	2	375	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	NFKBIA_ENST00000557140.1_Missense_Mutation_p.E92K|NFKBIA_ENST00000557389.1_Missense_Mutation_p.E2K|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	92					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CGGATCACTTCCATGGTCAGT	0.607000													7	28					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54653376	54653376	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:54653376C>T	ENST00000406403.1	+	12	3091	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	CNOT3_ENST00000358389.3_Silent_p.L315L|CNOT3_ENST00000221232.5_Silent_p.L496L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	496	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GACCCAGCCTCCTGGTGCCAC	0.657000													9	17					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510229	171510229	+	Silent	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:171510229G>A	ENST00000367742.3	+	16	3866	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G	PRRC2C_ENST00000392078.3_Silent_p.G1208G|PRRC2C_ENST00000338920.4_Silent_p.G1206G|PRRC2C_ENST00000426496.2_Silent_p.G1206G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1206							protein C-terminus binding										CTTATGGAGGGCGTGGCAGGG	0.507000													18	45					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	21201422	21201422	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:21201422G>A	ENST00000274695.4	+	15	1632	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	CDKAL1_ENST00000378624.4_Missense_Mutation_p.G398R|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.G489R	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	489	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTTTATGAAAGGGCAGCCAGT	0.443000													33	63					0	0	1	0	0
TYW3	127253	broad.mit.edu	37	1	75218022	75218022	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:75218022G>A	ENST00000370867.3	+	5	562	c.473G>A	c.(472-474)gGa>gAa	p.G158E	TYW3_ENST00000421739.2_Missense_Mutation_p.G74E|TYW3_ENST00000457880.2_Missense_Mutation_p.G125E|TYW3_ENST00000479111.1_Missense_Mutation_p.G38E	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	158					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AGCCATAAGGGAAAACTGATG	0.353000													7	72					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420738	8420738	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:8420738C>T	ENST00000337907.3	-	19	3463	c.2829G>A	c.(2827-2829)caG>caA	p.Q943Q	RERE_ENST00000476556.1_Silent_p.Q389Q|RERE_ENST00000400908.2_Silent_p.Q943Q|RERE_ENST00000377464.1_Silent_p.Q675Q|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	943	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCTTGTGGGCCTGTGGCGCCG	0.692000													21	10					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196892683	196892683	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:196892683C>T	ENST00000312428.6	-	6	587		c.e6+1		DNAH7_ENST00000410072.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						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						TGGCCAGTTACCAAGATGTCT	0.393000													13	113					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483352	71483352	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71483352C>T	ENST00000393539.2	-	6	1389	c.576G>A	c.(574-576)gaG>gaA	p.E192E	ZNF23_ENST00000564528.1_Silent_p.E134E|ZNF23_ENST00000428724.2_Silent_p.E134E|ZNF23_ENST00000357254.4_Silent_p.E192E|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.E192E|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGCTTTTCCTCAGTGTTGT	0.378000													49	68					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011331	34011331	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:34011331C>T	ENST00000382499.2	-	31	3918	c.3919G>A	c.(3919-3921)Gca>Aca	p.A1307T	SYNJ1_ENST00000357345.3_Missense_Mutation_p.A1252T|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A1221T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A1307T|SYNJ1_ENST00000322229.7_Missense_Mutation_p.A1268T	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1268	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATAGGTGCTGCCACAGGGACA	0.557000													10	136					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44399255	44399255	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:44399255C>T	ENST00000342649.4	+	3	479	c.52C>T	c.(52-54)Cca>Tca	p.P18S	TCAIM_ENST00000396078.3_Missense_Mutation_p.P18S|TCAIM_ENST00000383746.3_Missense_Mutation_p.P18S|TCAIM_ENST00000417237.1_Missense_Mutation_p.P18S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2			T cell activation inhibitor, mitochondrial																		GAAGATATTTCCACACTGGTT	0.393000													13	63					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465415	51465415	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51465415C>T	ENST00000374095.5	-	7	1166	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	347	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						AGTCACCCAGCCCGGTGTCCA	0.552000													73	109					0	0	1	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18497048	18497048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:18497048G>A	ENST00000280706.2	+	4	1251	c.454G>A	c.(454-456)Gga>Aga	p.G152R	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.G152R	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	152					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GAAGTTGAGTGGATTTCCCAA	0.383000													33	23					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38893844	38893844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:38893844G>A	ENST00000359357.3	+	72	10579	c.10325G>A	c.(10324-10326)gGg>gAg	p.G3442E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G3659E|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3406E|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTGAGTGGGGGCTACAGGGA	0.413000													5	93					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113670104	113670104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:113670104G>A	ENST00000003302.4	-	25	3160	c.3092C>T	c.(3091-3093)cCc>cTc	p.P1031L	USP28_ENST00000260188.5_Missense_Mutation_p.P999L|USP28_ENST00000545540.1_Missense_Mutation_p.P874L|USP28_ENST00000544967.1_Missense_Mutation_p.P707L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1031					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAGAAGTCTGGGTAGAAACTC	0.443000													27	71					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892934	16892934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:16892934C>T	ENST00000430580.2	-	26	3747	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_Intron	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	954	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTCTTCCACTTCTTGGTAC	0.433000													29	1042					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63223880	63223880	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:63223880C>T	ENST00000263991.5	+	21	3777	c.3295C>T	c.(3295-3297)Ctt>Ttt	p.L1099F	EHBP1_ENST00000354487.3_Missense_Mutation_p.L1064F|EHBP1_ENST00000405015.3_Missense_Mutation_p.L1028F|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.L1064F|EHBP1_ENST00000431489.1_Missense_Mutation_p.L1028F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1099						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAAGCGCCTTCGCTATCT	0.463000													15	41					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24656302	24656302	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:24656302G>A	ENST00000354464.6	-	7	819	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCATCTATGGGGATCAGAGTC	0.552000													64	148					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239162052	239162052	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:239162052G>A	ENST00000254657.3	-	19	2891	c.2612C>T	c.(2611-2613)cCt>cTt	p.P871L	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	871	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCGTGGGGAGGTGCCGGGGG	0.667000													17	29					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953953	89953953	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:89953953G>A	ENST00000405460.2	+	21	4706	c.4610G>A	c.(4609-4611)gGa>gAa	p.G1537E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1537	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGAGGAAGGAGAAGAATTA	0.338000													8	53					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355559	33355559	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:33355559C>T	ENST00000023064.4	-	3	402	c.211G>A	c.(211-213)Gct>Act	p.A71T	SLC7A9_ENST00000590341.1_Missense_Mutation_p.A71T|SLC7A9_ENST00000587772.1_Missense_Mutation_p.A71T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	71					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACCCCGCAAGCCGCCCATATG	0.627000													46	58					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115555	25115555	+	Splice_Site	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:25115555C>T	ENST00000332271.5	-	21	2949	c.2533G>A	c.(2533-2535)Ggc>Agc	p.G845S	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Splice_Site_p.G727S|PIWIL3_ENST00000533313.1_Splice_Site_p.G727S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	845	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGGATGATGCCCTTTAGTAGG	0.438000													4	54					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63544048	63544048	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:63544048G>A	ENST00000299178.2	-	1	674	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	190					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCGATCATGGAGAAGACGAA	0.647000													43	71					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6964737	6964737	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:6964737C>T	ENST00000389658.3	-	51	7354	c.7261G>A	c.(7261-7263)Gga>Aga	p.G2421R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2421	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGATGCTCCCGGAGTCTCG	0.448000													6	117					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183456	197183456	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:197183456G>A	ENST00000260983.3	-	9	2340	c.2158C>T	c.(2158-2160)Cca>Tca	p.P720S	HECW2_ENST00000409111.1_Missense_Mutation_p.P364S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTGCCCCTGGCCCTTCATCC	0.662000													6	27					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51226579	51226579	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:51226579C>T	ENST00000245441.5	-	17	2585	c.2395G>A	c.(2395-2397)Gga>Aga	p.G799R	NIN_ENST00000530997.2_Missense_Mutation_p.G799R|NIN_ENST00000382043.4_Missense_Mutation_p.G799R|NIN_ENST00000453196.1_Missense_Mutation_p.G799R|NIN_ENST00000389868.3_Missense_Mutation_p.G799R|NIN_ENST00000324330.9_Missense_Mutation_p.G799R|NIN_ENST00000382041.3_Missense_Mutation_p.G799R	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	799					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTTACCTTCCCTCCTGAAGC	0.532000			T	PDGFRB	MPD								61	143					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49448209	49448209	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:49448209G>A	ENST00000327171.3	+	1	248	c.16G>A	c.(16-18)Gac>Aac	p.D6N		NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	17					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CGTCCTATATGACAGGTATTA	0.468000													19	40					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887366	27887366	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:27887366C>T	ENST00000326019.6	+	1	1029	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	249	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAACTCGCATCCCACCTCGCA	0.562000													7	50					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10335525	10335525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:10335525G>A	ENST00000377086.1	+	11	1124	c.922G>A	c.(922-924)Gat>Aat	p.D308N	KIF1B_ENST00000263934.6_Missense_Mutation_p.D302N|KIF1B_ENST00000377083.1_Missense_Mutation_p.D302N|KIF1B_ENST00000377081.1_Missense_Mutation_p.D308N|KIF1B_ENST00000377093.4_Missense_Mutation_p.D302N			O60333	KIF1B_HUMAN	kinesin family member 1B	308	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTACAGGGATTCTGTACT	0.313000													34	87					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125398110	125398110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:125398110C>T	ENST00000536769.1	-	1	1784	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	UBC_ENST00000339647.5_Missense_Mutation_p.V70M|UBC_ENST00000546120.1_Missense_Mutation_p.V70M|UBC_ENST00000538617.1_Missense_Mutation_p.V70M			P0CG48	UBC_HUMAN	ubiquitin C	70	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGACGGAGCACCAGGTGCAGG	0.552000													12	361					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562211	142562211	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:142562211C>T	ENST00000392957.2	+	7	1440	c.653C>T	c.(652-654)gCc>gTc	p.A218V	EPHB6_ENST00000442129.1_Missense_Mutation_p.A218V|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	218						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A203D(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACACGGGGGCCTGCCTGGCC	0.657000													35	119					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7801418	7801418	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7801418C>T	ENST00000380358.4	+	12	2227	c.2226C>T	c.(2224-2226)caC>caT	p.H742H	CHD3_ENST00000330494.7_Silent_p.H683H|CHD3_ENST00000358181.4_Silent_p.H683H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	683					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACTGGAGACACCGGTGAGGGA	0.453000													32	52					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269423	28269423	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:28269423C>T	ENST00000405948.2	+	7	2212	c.1792C>T	c.(1792-1794)Cct>Tct	p.P598S	PGBD1_ENST00000259883.3_Missense_Mutation_p.P598S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	598					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATGAGGATCCTGATCTTGG	0.398000													8	101					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340516	39340516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:39340516G>A	ENST00000454994.2	-	2	1531	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.P419S|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.P419S			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	419					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGCCACCGCGGTTTCCAATCG	0.507000													18	43					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682815	47682815	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:47682815C>T	ENST00000283303.2	+	6	2092	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S	GPR115_ENST00000371220.1_Missense_Mutation_p.P669S|GPR115_ENST00000327753.3_Missense_Mutation_p.P612S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	612					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATCCTCACTCCACTGCTGGG	0.468000													37	75					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167574	140167574	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140167574G>A	ENST00000504120.2	+	1	1699	c.1699G>A	c.(1699-1701)Gcg>Acg	p.A567T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A567T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTGCTGGCGCCTCGAGT	0.687000													10	159					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48881513	48881513	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:48881513G>A	ENST00000267163.4	+	2	373	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	79					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)|p.E79*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTAACTTGGGAGAAAGTTTC	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	13					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48548106	48548106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:48548106G>A	ENST00000358350.4	-	42	5861	c.5257C>T	c.(5257-5259)Ctc>Ttc	p.L1753F	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.L1753F|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L1753F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1753					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						aattccatgagGGTTTTGACT	0.418000													3	44					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111777666	111777666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:111777666C>T	ENST00000445067.2	+	7	1238	c.467C>T	c.(466-468)aCt>aTt	p.T156I	CHI3L2_ENST00000369748.4_Missense_Mutation_p.T156I|CHI3L2_ENST00000466741.1_Missense_Mutation_p.T77I|CHI3L2_ENST00000524472.1_Missense_Mutation_p.T77I|CHI3L2_ENST00000369744.2_Missense_Mutation_p.T146I			Q15782	CH3L2_HUMAN	chitinase 3-like 2	156					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ACTCATTTCACTGTGCTGATT	0.408000													17	47					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146125723	146125723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:146125723C>T	ENST00000237281.4	-	2	1985	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	607							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTATGTAATCCCAACACACAG	0.433000													3	40					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97602220	97602220	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:97602220C>T	ENST00000371207.3	+	4	481	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	ENTPD1_ENST00000371205.4_Silent_p.L128L|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000453258.2_Silent_p.L135L|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.L20L|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000539125.1_Intron|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	128					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCCGTTTACCTGGGAGCCAC	0.493000													7	85					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129042663	129042663	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:129042663G>A	ENST00000394422.3	+	4	219	c.191G>A	c.(190-192)aGg>aAg	p.R64K	UTP14A_ENST00000425117.2_Missense_Mutation_p.R64K|UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	64					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTGGCTGAGAGGTCTGAGGCT	0.438000													132	260					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50039626	50039626	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:50039626C>T	ENST00000335154.5	-	26	3289	c.3056G>A	c.(3055-3057)gGt>gAt	p.G1019D	FMNL3_ENST00000352151.5_Missense_Mutation_p.G968D|FMNL3_ENST00000550488.1_3'UTR	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	523					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCGAGGGGGACCACTGGGCGG	0.632000													9	13					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74749834	74749834	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:74749834C>T	ENST00000404568.3	-	8	1587	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	DQX1_ENST00000393951.2_Silent_p.G456G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	456						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTGACAGGTCCCCATCATCAT	0.527000													80	150					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42890891	42890891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:42890891G>A	ENST00000304672.1	+	2	266	c.185G>A	c.(184-186)tGg>tAg	p.W62*	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Nonsense_Mutation_p.W37*	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	62						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGCCCCATCTGGTTCTCAGCC	0.607000													25	60					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586179	82586179	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:82586179C>T	ENST00000333891.9	-	5	4427	c.4090G>A	c.(4090-4092)Gga>Aga	p.G1364R	PCLO_ENST00000423517.2_Missense_Mutation_p.G1364R	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGAATATCCCGTGTCGCTC	0.423000													13	55					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102265199	102265199	+	Silent	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:102265199C>T	ENST00000370345.3	-	10	1195	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	SEC31B_ENST00000451524.1_Silent_p.E366E	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	366					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTGCCACTTGCTCTGGCACCT	0.507000													52	105					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633370	8633370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:8633370G>A	ENST00000381196.4	-	11	842	c.299C>T	c.(298-300)gCc>gTc	p.A100V	PTPRD_ENST00000537002.1_Missense_Mutation_p.A100V|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTATTTGAGGCCACACATTC	0.433000										TSP Lung(15;0.13)			5	56					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180807	142180807	+	RNA	SNP	G	G	A			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:142180807G>A	ENST00000390368.2	-	0	117																											GCATTCACTGGACCTGCAGAG	0.547000													30	141					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481633	140481633	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140481633C>T	ENST00000231130.2	+	1	1400	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		467	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGCCCCGCCCTGCACATC	0.622000													5	225					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79387523	79387523	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:79387523C>A	ENST00000264895.6	+	50	7631	c.7191C>A	c.(7189-7191)gaC>gaA	p.D2397E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2396					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCTCAAGGACCGGTTCACCT	0.527000													20	30					2.37509e-13	2.69413e-13	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358000													4	379					0	0	1	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639572	43639572	+	Missense_Mutation	SNP	C	C	T	rs138289141	by1000genomes	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:43639572C>T	ENST00000372133.3	-	6	529	c.518G>A	c.(517-519)cGc>cAc	p.R173H	RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	173					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CACGGGCATGCGCACCCTGTT	0.577000													3	32					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1418031	1418031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:1418031G>T	ENST00000378741.3	+	7	909	c.283G>T	c.(283-285)Gag>Tag	p.E95*	ATAD3B_ENST00000308647.7_Intron|ATAD3B_ENST00000378736.3_3'UTR			Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	0							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCAGGTGGCTGAGAGGCAGCA	0.587000													6	87					0.00198382	0.00201027	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGAGCAGGGCGAAGCTGTGG	0.557000													19	35					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24444199	24444199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24444199C>T	ENST00000382172.3	-	6	837	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	247					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGATATGATCCCCAGCAGAT	0.393000													31	20					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146813488	146813488	+	Silent	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:146813488C>T	ENST00000508784.1	-	3	1400	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	ZNF827_ENST00000379448.4_Silent_p.R391R|ZNF827_ENST00000513320.1_Silent_p.R41R			Q17R98	ZN827_HUMAN	zinc finger protein 827	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCACCATGTGCCGCTTCCAGT	0.453000													3	50					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66343315	66343315	+	Splice_Site	SNP	T	T	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:66343315T>A	ENST00000448504.2	+	4	1250		c.e4+2		ARSG_ENST00000452479.2_Splice_Site|ARSG_ENST00000582154.1_Splice_Site	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G						sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACTTCCGTGGTAAGAATTCTT	0.463000													5	65					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100437	8100437	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:8100437G>A	ENST00000379328.3	+	3	979	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000346208.3_Silent_p.S137S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						48	87					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149919762	149919762	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:149919762C>G	ENST00000261797.6	+	8	2187	c.1685C>G	c.(1684-1686)cCc>cGc	p.P562R	NDST1_ENST00000523767.1_Missense_Mutation_p.P562R	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	562	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGACACTGCCCCCTGTGCAG	0.627000													13	40					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	99					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630667	187630667	+	Silent	SNP	T	T	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:187630667T>A	ENST00000441802.2	-	2	524	c.315A>T	c.(313-315)acA>acT	p.T105T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	105	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAGAATAGCTGTATTTCCTC	0.398000										HNSCC(5;0.00058)			38	15					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647000													18	25					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	rs146374754		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000423058.2	-	17	3519	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413000													34	68					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000455263.2_Missense_Mutation_p.F109V|TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCCAGACGGAAACCGTAGCTG	0.612000		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)			52	14					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45000227	45000227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:45000227G>A	ENST00000372176.1	-	18	1888	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	ELMO2_ENST00000445496.2_Nonsense_Mutation_p.R379*|ELMO2_ENST00000439931.2_Nonsense_Mutation_p.R574*|ELMO2_ENST00000454865.2_Nonsense_Mutation_p.R294*|ELMO2_ENST00000396391.1_Nonsense_Mutation_p.R562*|ELMO2_ENST00000290246.6_Nonsense_Mutation_p.R562*|ELMO2_ENST00000352077.2_Nonsense_Mutation_p.R560*			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	562	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CCTTGCCTTCGGCGGTTCCCA	0.607000													3	37					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733247	6733247	+	Silent	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:6733247G>C	ENST00000264080.7	-	9	815	c.789C>G	c.(787-789)ctC>ctG	p.L263L	GPR108_ENST00000430424.4_Silent_p.L21L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	263						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGACCATGTAGAGCTTGAAAA	0.647000													5	63					0	0	1	0	0
ANKRD10	55608	broad.mit.edu	37	13	111532200	111532200	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:111532200G>A	ENST00000267339.2	-	6	1181	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	349										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			TCCCGTTCAGGTGCAGAGAAC	0.552000													8	88					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148626096	148626096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:148626096G>A	ENST00000506113.1	+	16	2020	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R402H|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R402H|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R418H|ABLIM3_ENST00000517451.1_5'UTR|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R480H|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R513H			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	513					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.R513H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTTGACCGCAGCATGCAC	0.493000													8	27					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269000													5	59					0.000602214	0.00061849	1	1	0
HELZ	9931	broad.mit.edu	37	17	65105677	65105677	+	Silent	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65105677A>G	ENST00000358691.5	-	29	4210	c.4044T>C	c.(4042-4044)gcT>gcC	p.A1348A	HELZ_ENST00000580168.1_Silent_p.A1349A	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGCGTGGGGAGCAGGAAGGG	0.473000													38	43					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349538	150349538	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:150349538G>C	ENST00000218316.3	+	2	1552	c.1483G>C	c.(1483-1485)Gcc>Ccc	p.A495P		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	495	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGTGCTGCCACCAGCCA	0.592000													34	187					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76726457	76726457	+	Silent	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:76726457T>C	ENST00000538941.2	-	26	3474	c.2535A>G	c.(2533-2535)caA>caG	p.Q845Q	SCAPER_ENST00000563290.1_Silent_p.Q1091Q|SCAPER_ENST00000324767.7_Silent_p.Q1091Q	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1090						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAGGATCACCTTGTGAGGGTT	0.378000													14	31					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87053296	87053296	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:87053296C>T	ENST00000265723.4	-	17	2248	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	ABCB4_ENST00000545634.1_Missense_Mutation_p.V713M|ABCB4_ENST00000453593.1_Missense_Mutation_p.V713M|ABCB4_ENST00000358400.3_Missense_Mutation_p.V713M|ABCB4_ENST00000359206.3_Missense_Mutation_p.V713M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	713	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.V713M(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACTGTTCCCACGACAAAGTAG	0.448000													22	148					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718388	58718388	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58718388C>G	ENST00000326804.4	+	6	1015	c.556C>G	c.(556-558)Cac>Gac	p.H186D	ZNF274_ENST00000345813.3_Missense_Mutation_p.H154D|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.H81D	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	187	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGAGCTGTGTCACCAGTGGCT	0.622000													5	19					0	0	1	0	0
MIR30B	407030	broad.mit.edu	37	8	135812797	135812797	+	RNA	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:135812797C>A	ENST00000384850.1	-	0	53					NR_029666.1																						CACCTCCCAGCCAATCCATGT	0.358000													27	70					6.07407e-21	6.99439e-21	1	1	0
DMWD	1762	broad.mit.edu	37	19	46289695	46289695	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:46289695C>A	ENST00000270223.6	-	3	1104	c.1059G>T	c.(1057-1059)tgG>tgT	p.W353C	DMWD_ENST00000377735.3_Missense_Mutation_p.W353C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	353					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGGTGAAGGACCACACGGTGA	0.647000													28	81					1.13719e-10	1.25256e-10	1	1	0
WTIP	126374	broad.mit.edu	37	19	34985493	34985493	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:34985493T>G	ENST00000590071.2	+	6	1371	c.1034T>G	c.(1033-1035)gTt>gGt	p.V345G	WTIP_ENST00000270288.6_Missense_Mutation_p.V569G	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTCTCTAGGGTTTTTGCACCA	0.577000													13	28					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10116304	10116304	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:10116304C>T	ENST00000264828.3	-	4	609	c.524G>A	c.(523-525)gGc>gAc	p.G175D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	175	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAAGCGGGGGCCATGGCCCAA	0.592000													9	37					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855964	76855964	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:76855964A>C	ENST00000373344.5	-	23	5850	c.5636T>G	c.(5635-5637)tTa>tGa	p.L1879*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1841*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTCTACTTAACATCTGAAA	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						121	175					0	0	1	0	0
MTHFSD	64779	broad.mit.edu	37	16	86582070	86582070	+	Translation_Start_Site	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:86582070C>A	ENST00000546093.1	-	0	394				MTHFSD_ENST00000322911.6_Splice_Site_p.Q116H|MTHFSD_ENST00000543303.2_Splice_Site_p.Q116H|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000360900.6_Splice_Site_p.Q117H|MTHFSD_ENST00000381214.5_Splice_Site_p.Q117H			Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing						folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGTACTTACCTGAGAGGTGG	0.463000													17	64					5.03518e-11	5.62756e-11	1	1	0
LGSN	51557	broad.mit.edu	37	6	63995547	63995547	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:63995547G>T	ENST00000370658.5	-	3	308	c.275C>A	c.(274-276)gCa>gAa	p.A92E	LGSN_ENST00000370657.4_Missense_Mutation_p.A92E	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	92					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GAGGTCTGTTGCTTCAAATCG	0.423000													8	35					0.000157383	0.000168467	1	1	0
FAM91A1	157769	broad.mit.edu	37	8	124787414	124787414	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:124787414G>T	ENST00000334705.7	+	3	431	c.185G>T	c.(184-186)aGa>aTa	p.R62I	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R62I	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	62										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GATGAACGCAGATACTATGAG	0.363000													4	96					0.00024832	0.000262116	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814735	242814735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:242814735C>T	ENST00000343216.3	+	2	1056	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	343						integral to membrane											ACCTTCCCCTCCTCCCTCACC	0.607000													22	39					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16475174	16475174	+	Silent	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493000													28	67					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357009	104357009	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:104357009G>A	ENST00000374806.1	-	1	274	c.204C>T	c.(202-204)gaC>gaT	p.D68D	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	65	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CTCCATCACCGTCGGTGTCGA	0.572000													20	66					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96640892	96640892	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:96640892G>A	ENST00000228741.3	+	3	708	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	128				A -> V (in Ref. 1; CAA85309).	negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A128T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CGGCCTGGCCGCCCTCAGAAG	0.622000													8	8					0	0	1	0	0
PSMB7	5695	broad.mit.edu	37	9	127174692	127174692	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:127174692A>T	ENST00000536392.1	-	4	350	c.334T>A	c.(334-336)Tcc>Acc	p.S112T	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000259457.3_Missense_Mutation_p.S112T			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CGGCCAGTGGAGAGGGAGTGG	0.483000													29	52					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967266	58967266	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:58967266G>A	ENST00000391696.1	+	3	1857	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	ZNF324B_ENST00000336614.4_Missense_Mutation_p.G319S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G319S			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCCGTGTGCGGCAAGGCCTT	0.682000													7	26					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6928052	6928052	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:6928052A>G	ENST00000293805.5	+	4	826	c.734A>G	c.(733-735)gAa>gGa	p.E245G		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	245						nucleus	zinc ion binding			skin(1)	1						agcagcagTGAAGAAGGACCC	0.582000													9	21					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280576	117280576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:117280576T>C	ENST00000278935.3	+	30	4138	c.3991T>C	c.(3991-3993)Tcc>Ccc	p.S1331P	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1331					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TACACCCACGTCCACCCAATG	0.627000													44	70					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12231106	12231106	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:12231106G>A	ENST00000256194.4	+	6	940	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	MICAL2_ENST00000342902.5_Missense_Mutation_p.V218I|MICAL2_ENST00000379612.3_Missense_Mutation_p.V218I|MICAL2_ENST00000527546.1_Missense_Mutation_p.V218I|MICAL2_ENST00000537344.1_Missense_Mutation_p.V218I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	218						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGAGTTTGACGTCATCATTGG	0.522000													20	87					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411973	43411973	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:43411973G>A	ENST00000310826.5	-	3	2415	c.2232C>T	c.(2230-2232)tgC>tgT	p.C744C	ZBTB21_ENST00000398511.3_Silent_p.C744C|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Silent_p.C543C|ZBTB21_ENST00000398499.1_Silent_p.C744C	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CCGCGTTCCGGCACAGCCGCT	0.547000													5	488					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531989	140531989	+	Silent	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:140531989G>A	ENST00000231136.1	+	1	2151	c.2151G>A	c.(2149-2151)gcG>gcA	p.A717A	PCDHB6_ENST00000543635.1_Silent_p.A581A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		717					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.652000													50	177					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524632	9524632	+	Silent	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:9524632G>C	ENST00000592904.1	-	5	3045	c.969C>G	c.(967-969)ccC>ccG	p.P323P	ZNF266_ENST00000588221.1_Silent_p.P323P|ZNF266_ENST00000588933.1_Silent_p.P323P|ZNF266_ENST00000592292.1_Silent_p.P323P|ZNF266_ENST00000590306.1_Silent_p.P323P|ZNF266_ENST00000361151.1_Silent_p.P323P|ZNF266_ENST00000361451.2_Silent_p.P323P			Q14584	ZN266_HUMAN	zinc finger protein 266	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TACATTCAAAGGGATCCTTTG	0.373000													40	74					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													4	27					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994709	140994709	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:140994709G>C	ENST00000285879.4	+	4	1805	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	507							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTACTTTTGAGGGTTTTCC	0.507000										HNSCC(15;0.026)			73	135					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195906	207195906	+	Silent	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:207195906T>C	ENST00000359470.5	-	4	1452	c.1203A>G	c.(1201-1203)gcA>gcG	p.A401A	C1orf116_ENST00000461135.2_Silent_p.A155A	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	401	Ala-rich.					cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					caggaatagctgctgaggcct	0.627000													22	44					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328133	152328133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:152328133C>T	ENST00000388718.5	-	3	2201	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	710	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACTTGACCCATGTTGACC	0.473000													24	383					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32741979	32741979	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:32741979C>A	ENST00000333070.4	+	8	773	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	LCK_ENST00000336890.5_Missense_Mutation_p.Q225K|LCK_ENST00000373564.3_Intron	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	225	Interaction with PTPRH.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CCGCCCCTGCCAGACCCAGAA	0.647000			T	TRB@	T-ALL								5	40					0.000602214	0.00061849	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113558342	113558342	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:113558342T>A	ENST00000284601.3	-	1	778	c.710A>T	c.(709-711)gAg>gTg	p.E237V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	237					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGGCTCCGGCTCTTGTTCTTT	0.313000													9	180					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61578506	61578506	+	Silent	SNP	C	C	T			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:61578506C>T	ENST00000350997.7	-	4	958	c.726G>A	c.(724-726)tcG>tcA	p.S242S	FADS1_ENST00000542506.1_Silent_p.S101S|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.S101S	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	185					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTGAAGACCGACAGGTGCC	0.557000													3	44					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64051659	64051659	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:64051659T>C	ENST00000394532.3	-	1	452	c.182A>G	c.(181-183)cAt>cGt	p.H61R	BAD_ENST00000394531.3_Missense_Mutation_p.H61R|BAD_ENST00000309032.3_Missense_Mutation_p.H61R|BAD_ENST00000544785.1_Missense_Mutation_p.H61R	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	61					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CTTACCTCCATGATGGCTGCT	0.657000													14	29					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	78					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113865861	113865861	+	Missense_Mutation	SNP	C	C	T	rs149197891	by1000genomes	TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:113865861C>T	ENST00000403593.4	+	2	336	c.74C>T	c.(73-75)gCg>gTg	p.A25V	SDSL_ENST00000345635.4_Missense_Mutation_p.A25V			Q96GA7	SDSL_HUMAN	serine dehydratase-like	25					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GAGAGCTGGGCGCTGTCCCAG	0.607000													9	12					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153042386	153042386	+	Silent	SNP	T	T	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:153042386T>C	ENST00000538966.1	+	30	5218	c.4947T>C	c.(4945-4947)cgT>cgC	p.R1649R	PLXNB3_ENST00000538776.1_Silent_p.R1279R|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000361971.5_Silent_p.R1626R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1626					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCACCGTGGCAGCACCA	0.687000													6	9					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404583	113404583	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113404583A>G	ENST00000272542.3	+	2	717	c.178A>G	c.(178-180)Aag>Gag	p.K60E		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	60					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGTGACCCTGAAGCAAGCCTG	0.507000													14	25					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037454	75037454	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:75037454A>C	ENST00000326665.5	-	14	4158	c.3940T>G	c.(3940-3942)Tcg>Gcg	p.S1314A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1314	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCCTTCCGAGTTCCTGTCC	0.547000													5	81					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	38					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806179	160806179	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:160806179G>A	ENST00000283243.7	-	25	3855	c.3649C>T	c.(3649-3651)Cgc>Tgc	p.R1217C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R1217C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1217	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTATGCCAGCGTCCGTTGCTG	0.448000													4	48					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320407	152320407	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:152320407T>G	ENST00000243326.5	+	29	4856	c.4373T>G	c.(4372-4374)aTa>aGa	p.I1458R	RIF1_ENST00000444746.2_Missense_Mutation_p.I1458R|RIF1_ENST00000430328.2_Missense_Mutation_p.I1458R|RIF1_ENST00000428287.2_Missense_Mutation_p.I1458R|RIF1_ENST00000453091.2_Missense_Mutation_p.I1458R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCATTGCATATAAAAGATGAT	0.353000													16	43					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928304	6928304	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:6928304A>G	ENST00000381404.4	+	16	2245	c.2215A>G	c.(2215-2217)Acg>Gcg	p.T739A	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000312053.4_Intron|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000450315.3_Intron	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	763					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATTTCCAGGGACGTGTGCAGC	0.522000													5	23					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								32	44					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53993761	53993761	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:53993761A>C	ENST00000396403.4	+	4	403	c.275A>C	c.(274-276)aAa>aCa	p.K92T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAAATTGATAAAGATATTCAT	0.403000													21	76					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115935873	115935873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:115935873G>A	ENST00000238256.3	-	23	2509	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	798					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGCTCAGCCTGTACTAAAGAC	0.512000													5	57					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62053729	62053734	+	Splice_Site	DEL	TTAAAG	TTAAAG	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:62053729_62053734delTTAAAG	ENST00000404929.1	-	7	2018_2023	c.2007_2012delCTTTAA	c.(2005-2013)agctttaat>agt	p.FN670del	FAM161A_ENST00000405894.3_Splice_Site_p.FN614del	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	614					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTCTTCATTAAAGCTAGGGGAAG	0.359													7	14	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152467307	152467307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:152467307delA	ENST00000397345.3	-	79	12081	c.11879delT	c.(11878-11880)ctgfs	p.L3960fs	NEB_ENST00000427231.2_Frame_Shift_Del_p.L3960fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.L3960fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.L3717fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.L3717fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.L3960fs	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3960					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTTGGCCAGCAGGATATC	0.448													10	6	---	---	---	---					
CPNE9	151835	broad.mit.edu	37	3	9760258	9760258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:9760258delT	ENST00000383832.3	+	17	1403	c.1213delT	c.(1213-1215)tttfs	p.F405fs	CPNE9_ENST00000383831.3_Frame_Shift_Del_p.F405fs	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	405	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCCCACCTACTTTGCTCCTGT	0.562													40	71	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125644069	125644078	+	RNA	DEL	CCACACCATG	CCACACCATG	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:125644069_125644078delCCACACCATG	ENST00000485843.1	+	0	482					NR_024251.1																						CCCCACACTCCCACACCATGCGGGGAACTA	0.671													8	13	---	---	---	---					
HERC6	55008	broad.mit.edu	37	4	89300117	89300122	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:89300117_89300122delGGAGGA	ENST00000380265.5	+	1	227_232	c.44_49delGGAGGA	c.(43-51)cggaggacg>ccg	p.15_17RRT>P	HERC6_ENST00000273960.3_In_Frame_Del_p.15_17RRT>P|HERC6_ENST00000264346.7_In_Frame_Del_p.15_17RRT>P	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTGCAGCGCCGGAGGACGGCGGGCAG	0.699													4	7	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													2	4	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48312173	48312174	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:48312173_48312174delAT	ENST00000435803.1	+	17	2934_2935	c.2910_2911delAT	c.(2908-2913)cgatatfs	p.Y971fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	971					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATTTTACCGATATATTTATGA	0.287													29	64	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs34265378		TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718													4	3	---	---	---	---					
CHUK	1147	broad.mit.edu	37	10	101969490	101969490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:101969490delA	ENST00000370397.7	-	10	1076	c.990delT	c.(988-990)cctfs	p.P330fs		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	330					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GACTTTCATCAGGTGGTAACA	0.323													36	34	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr14:99641544_99641546delCTC	ENST00000345514.2	-	3	1680_1682	c.1414_1416delGAG	c.(1414-1416)gagdel	p.E472del	BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del|BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								2	4	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531236	30531238	+	In_Frame_Del	DEL	GCG	GCG	-	rs151035888	byFrequency	TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:30531236_30531238delGCG	ENST00000356798.6	+	30	3467_3469	c.3287_3289delGCG	c.(3286-3291)agcggc>agc	p.G1097del	ITGAL_ENST00000433423.2_In_Frame_Del_p.G331del|ITGAL_ENST00000358164.5_In_Frame_Del_p.G1013del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1097					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TACGTGCTGAGCGGCATCGGGGG	0.586													60	150	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136155	19136155	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:19136155delT	ENST00000601879.1	-	3	1299	c.1002delA	c.(1000-1002)aaafs	p.K334fs	SUGP2_ENST00000337018.6_Frame_Shift_Del_p.K334fs|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.K334fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.K348fs|SUGP2_ENST00000456085.2_Frame_Shift_Del_p.K103fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	334					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCCTGCCCATTTGATTATTT	0.378													49	74	---	---	---	---					
MIRLET7E	406887	broad.mit.edu	37	19	52195750	52195750	+	RNA	DEL	G	G	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:52195750delG	ENST00000602324.1	-	0	823					NR_029482.1|NR_029693.1																						gggttctttagggaggagggg	0.622													2	4	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													9	95	---	---	---	---					
ZIC3	7547	broad.mit.edu	37	X	136648985	136648987	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-DU-6407-02B-11D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41da1753-dcff-4e99-8f41-8fcde82efa53	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:136648985_136648987delCGC	ENST00000287538.5	+	1	685_687	c.135_137delCGC	c.(133-138)cacgcc>cac	p.A55del	ZIC3_ENST00000370606.3_In_Frame_Del_p.A55del	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	55	Poly-Ala.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACTCAACCCAcgccgccgccgcc	0.719													3	6	---	---	---	---					
TESK2	10420	broad.mit.edu	37	1	45887481	45887483	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:45887481_45887483delTTA	ENST00000372086.3	-	3	658_660	c.258_260delTAA	c.(256-261)cttaag>ctg	p.K87del	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_In_Frame_Del_p.K87del|TESK2_ENST00000538496.1_In_Frame_Del_p.K4del|TESK2_ENST00000341771.6_In_Frame_Del_p.K87del|TESK2_ENST00000451835.2_In_Frame_Del_p.K87del	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	87	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGTGTTCATCTTAAGAGCCATCA	0.424													7	102	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													5	10	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121568246	121568248	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr7:121568246_121568248delTTG	ENST00000393386.2	+	2	506_508	c.95_97delTTG	c.(94-99)cttgtt>ctt	p.V33del	PTPRZ1_ENST00000449182.1_In_Frame_Del_p.V33del	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	33					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGAGAAAACTTGTTGAAGAGAT	0.271													61	210	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													13	61	---	---	---	---					
TMEM66	51669	broad.mit.edu	37	8	29927441	29927441	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:29927441delT	ENST00000256255.6	-	3	674	c.417delA	c.(415-417)acafs	p.T139fs	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	139						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGCCAAGTTCTGTATAATCTA	0.428													13	167	---	---	---	---					
ANK1	286	broad.mit.edu	37	8	41753963	41753963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:41753963delT	ENST00000265709.8	-	1	317	c.36delA	c.(34-36)aaafs	p.K12fs		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTCGATGTCTTTGATTTTCT	0.627													8	27	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40774452	40774455	+	Frame_Shift_Del	DEL	ATTC	ATTC	-	rs143733035		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr9:40774452_40774455delATTC	ENST00000602553.1	-	5	1114_1117	c.820_823delGAAT	c.(820-825)gaatatfs	p.EY274fs	ZNF658_ENST00000441795.1_Frame_Shift_Del_p.EY272fs|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.EY274fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTCCCATATTCATTAAGATCA	0.358													8	232	---	---	---	---					
SORCS3	22986	broad.mit.edu	37	10	106982976	106982985	+	Frame_Shift_Del	DEL	CCTATTTCTG	CCTATTTCTG	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:106982976_106982985delCCTATTTCTG	ENST00000369701.3	+	20	3064_3073	c.2837_2846delCCTATTTCTG	c.(2836-2847)acctatttctggfs	p.TYFW946fs	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	946						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGGACCCTTACCTATTTCTGGTGGTTCGGC	0.452													12	199	---	---	---	---					
FOXRED1	55572	broad.mit.edu	37	11	126141384	126141387	+	Frame_Shift_Del	DEL	TGGA	TGGA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:126141384_126141387delTGGA	ENST00000263578.5	+	2	212_215	c.138_141delTGGA	c.(136-141)cctggafs	p.PG46fs	FOXRED1_ENST00000532125.1_Frame_Shift_Del_p.PG32fs|FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	46						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGATCCTGCCTGGAAGGTCCTGTG	0.534													9	58	---	---	---	---					
ATP6V0C	527	broad.mit.edu	37	16	2569726	2569733	+	Frame_Shift_Del	DEL	CTCATCCT	CTCATCCT	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:2569726_2569733delCTCATCCT	ENST00000330398.4	+	3	682_689	c.448_455delCTCATCCT	c.(448-456)ctcatcctcfs	p.LIL150fs	ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Frame_Shift_Del_p.LIL107fs|ATP6V0C_ENST00000565223.1_Frame_Shift_Del_p.LIL107fs|RP11-20I23.1_ENST00000564543.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	150					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				CATCGTCGCCCTCATCCTCTCCACAAAG	0.587													14	70	---	---	---	---					
NLRP1	22861	broad.mit.edu	37	17	5463059	5463067	+	In_Frame_Del	DEL	GCCAAATAA	GCCAAATAA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:5463059_5463067delGCCAAATAA	ENST00000345221.3	-	4	1503_1511	c.949_957delTTATTTGGC	c.(949-957)ttatttggcdel	p.LFG317del	NLRP1_ENST00000577119.1_In_Frame_Del_p.LFG317del|NLRP1_ENST00000269280.4_In_Frame_Del_p.LFG317del|NLRP1_ENST00000354411.3_In_Frame_Del_p.LFG317del|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_In_Frame_Del_p.LFG317del|NLRP1_ENST00000262467.5_In_Frame_Del_p.LFG317del	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	317					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGGCCTGGGCCAAATAAGTCTCTGATC	0.526													26	174	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7727240	7727242	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7727240_7727242delCTT	ENST00000572933.1	+	75	12878_12880	c.11418_11420delCTT	c.(11416-11421)tccttc>tcc	p.F3807del	DNAH2_ENST00000389173.2_In_Frame_Del_p.F3807del			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3807	AAA 6 (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)				GCGTGACCTCCTTCATCATCACC	0.596													38	37	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													7	88	---	---	---	---					
GRIN2C	2905	broad.mit.edu	37	17	72846817	72846817	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:72846817delC	ENST00000293190.5	-	5	1349	c.1203delG	c.(1201-1203)cggfs	p.R401fs	GRIN2C_ENST00000347612.4_Frame_Shift_Del_p.R401fs	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	401					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCGTCAGGTGCCGACTGTCCA	0.652													13	46	---	---	---	---					
RP4-610C12.4	0	broad.mit.edu	37	20	29517388	29517388	+	RNA	DEL	C	C	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr20:29517388delC	ENST00000380888.3	-	0	98																											CAAGAGGAAGCCAGGAATGAG	0.552													2	4	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													13	38	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119678015	119678031	+	Frame_Shift_Del	DEL	TTAGTTTCTTCCAAAAA	TTAGTTTCTTCCAAAAA	-			TCGA-DU-6407-02A-12D-A36O-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c4e4bca-3c01-4651-9f8b-509196553aeb	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:119678015_119678031delTTAGTTTCTTCCAAAAA	ENST00000371322.5	-	7	1172_1188	c.1111_1127delTTTTTGGAAGAAACTAA	c.(1111-1128)tttttggaagaaactaacfs	p.FLEETN371fs	CUL4B_ENST00000336592.6_Frame_Shift_Del_p.FLEETN376fs|CUL4B_ENST00000404115.3_Frame_Shift_Del_p.FLEETN389fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	389					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATAGAGCCGGTTAGTTTCTTCCAAAAATCGTTGTTCA	0.332													9	78	---	---	---	---					
