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
ATP2C2	9914	broad.mit.edu	37	16	84474529	84474529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84474529G>A	ENST00000416219.2	+	14	1365	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E426K|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	426					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						AGTCATTAAGGAATTTTCCAA	0.502000													18	11					0	0	0.001216	0	0
ABCA4	24	broad.mit.edu	37	1	94512554	94512554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:94512554C>T	ENST00000370225.3	-	19	2925	c.2839G>A	c.(2839-2841)Gac>Aac	p.D947N	ABCA4_ENST00000535735.1_Missense_Mutation_p.D873N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	947	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCAGACGGTCCACAGCTGGC	0.537000													48	89					0	0	0.003610	0	0
HIRA	7290	broad.mit.edu	37	22	19371175	19371175	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:19371175G>A	ENST00000263208.5	-	13	1639	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	HIRA_ENST00000541063.1_Silent_p.I417I|HIRA_ENST00000340170.4_Silent_p.I461I|HIRA_ENST00000546308.1_Silent_p.I417I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	461	Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription.				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	p.I461I(1)		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)					AGAGAGGCGTGATTCTTCTCC	0.458000													35	42					0	0	0.001485	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744287	140744287	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140744287C>T	ENST00000518069.1	+	1	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATAACTTCCCGCGTTTCC	0.433000													5	11					0	0	0.001168	0	0
GPR115	221393	broad.mit.edu	37	6	47682098	47682098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:47682098G>A	ENST00000283303.2	+	6	1375	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	GPR115_ENST00000327753.3_Missense_Mutation_p.E373K|GPR115_ENST00000371220.1_Missense_Mutation_p.E430K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	373	GPS.				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						TATCAGGAACGAAGTGAAATG	0.473000													23	20					0	0	0.001882	0	0
DPP3	10072	broad.mit.edu	37	11	66276699	66276699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66276699G>A	ENST00000532677.1	+	18	2649	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	CTD-3074O7.11_ENST00000419755.3_Silent_p.V24V|DPP3_ENST00000541961.1_Missense_Mutation_p.E731K|DPP3_ENST00000360510.2_Missense_Mutation_p.E731K|DPP3_ENST00000531863.1_Missense_Mutation_p.E751K|DPP3_ENST00000453114.1_Missense_Mutation_p.E731K|DPP3_ENST00000530165.1_Missense_Mutation_p.E701K	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	731					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGGCCCCAGTGAGGCCCCATC	0.587000													4	9					0	0	0.000248	0	0
SSH2	85464	broad.mit.edu	37	17	27958398	27958398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27958398G>A	ENST00000269033.3	-	15	3884	c.3733C>T	c.(3733-3735)Cag>Tag	p.Q1245*	SSH2_ENST00000540801.1_Nonsense_Mutation_p.Q1272*|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1245					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCTGCCTGGAAAACCACT	0.512000													31	34					0	0	0.003271	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028295	45028295	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:45028295C>T	ENST00000454753.1	-	0	475							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGGCCAGCTCTGAAAGCAAG	0.507000													174	64					0	0	0.003610	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465165	48465165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:48465165C>A	ENST00000358536.4	-	3	1125	c.856G>T	c.(856-858)Gag>Tag	p.E286*	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.E286*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.E286*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.E286*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	286	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCGCCACCTCCCTGGACGTG	0.672000													10	16					3.07112e-06	5.28419e-06	0.000978	1	0
IGSF9	57549	broad.mit.edu	37	1	159907490	159907490	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159907490T>G	ENST00000368094.1	-	4	583	c.386A>C	c.(385-387)cAt>cCt	p.H129P	IGSF9_ENST00000361509.3_Missense_Mutation_p.H129P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	129						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTGTCAGATGCACCCAGGA	0.597000													24	39					0	0	0.004656	0	0
UNC79	57578	broad.mit.edu	37	14	94046585	94046585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94046585C>T	ENST00000553484.1	+	19	2678	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	UNC79_ENST00000256339.4_Missense_Mutation_p.P665S|UNC79_ENST00000555664.1_Missense_Mutation_p.P842S|UNC79_ENST00000393151.2_Missense_Mutation_p.P842S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	842						integral to membrane		p.I654_H670del(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTCCAAGCCCCCTGGGGGGG	0.443000													35	32					0	0	0.001287	0	0
LYST	1130	broad.mit.edu	37	1	235827771	235827771	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:235827771A>C	ENST00000389794.3	-	51	11363	c.11189T>G	c.(11188-11190)aTt>aGt	p.I3730S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3730S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3730					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)			TTACCTTACAATTCCATTTTC	0.378000													6	36					0	0	0.001984	0	0
NBEA	26960	broad.mit.edu	37	13	35615185	35615185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:35615185G>A	ENST00000400445.3	+	2	944	c.410G>A	c.(409-411)tGg>tAg	p.W137*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.W137*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.W137*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.W137*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	137						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGAAATATGGAGCATGTTT	0.383000													64	55					0	0	0.003610	0	0
ICAM5	7087	broad.mit.edu	37	19	10404517	10404517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10404517G>A	ENST00000221980.4	+	7	1672	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCCGTCATCGAGGGGCTGTT	0.662000													16	28					0	0	0.004990	0	0
ZNF639	51193	broad.mit.edu	37	3	179051056	179051056	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:179051056G>A	ENST00000326361.3	+	7	749		c.e7-1		ZNF639_ENST00000484866.1_Splice_Site|ZNF639_ENST00000496856.1_Splice_Site|ZNF639_ENST00000466663.1_Splice_Site	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639						initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTATTCTTCAGAAAAATCTGC	0.318000													7	10					0	0	0.001984	0	0
MYRF	745	broad.mit.edu	37	11	61539013	61539013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:61539013C>T	ENST00000278836.5	+	6	878	c.782C>T	c.(781-783)tCc>tTc	p.S261F	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S252F	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.S255fs*74(1)									CACTCTGAATCCCCCCCCAGC	0.637000													32	22					0	0	0.004289	0	0
KRT8	3856	broad.mit.edu	37	12	53293662	53293662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:53293662G>A	ENST00000552551.1	-	6	1310	c.878C>T	c.(877-879)gCt>gTt	p.A293V	KRT8_ENST00000552150.1_Missense_Mutation_p.A321V|KRT8_ENST00000293308.6_Missense_Mutation_p.A293V|KRT8_ENST00000546897.1_Missense_Mutation_p.A293V			P05787	K2C8_HUMAN	keratin 8	293	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCTTCCCAGCCAGGCTCTG	0.577000													7	10					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179396953	179396953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179396953C>T	ENST00000589042.1	-	358	104613	c.104389G>A	c.(104389-104391)Gaa>Aaa	p.E34797K	TTN_ENST00000342175.6_Missense_Mutation_p.E25924K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33156K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25732K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25857K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32229K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33156							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)			CTAGACTTTTCCTCCTTTGAC	0.413000													20	13					0	0	0.001882	0	0
MACF1	23499	broad.mit.edu	37	1	39847728	39847728	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:39847728C>T	ENST00000564288.1	+	56	14529	c.13752C>T	c.(13750-13752)ctC>ctT	p.L4584L	MACF1_ENST00000317713.7_Silent_p.L2522L|MACF1_ENST00000539005.1_Silent_p.L2501L|MACF1_ENST00000545844.1_Silent_p.L2522L|MACF1_ENST00000361689.2_Silent_p.L2522L|MACF1_ENST00000289893.4_Silent_p.L3024L|MACF1_ENST00000372915.3_Silent_p.L4589L|MACF1_ENST00000567887.1_Silent_p.L4621L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4589					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)			AATCCCAGCTCCGGCCGTGGC	0.562000													6	29					0	0	0.001984	0	0
CYYR1	116159	broad.mit.edu	37	21	27840827	27840827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:27840827C>T	ENST00000299340.4	-	4	801	c.458G>A	c.(457-459)aGg>aAg	p.R153K	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	153						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGATTATTTCCTTGCGTTTCC	0.512000													29	22					0	0	0.001786	0	0
TMC7	79905	broad.mit.edu	37	16	19033066	19033066	+	Silent	SNP	G	G	A	rs111625310		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:19033066G>A	ENST00000421369.3	+	4	804	c.246G>A	c.(244-246)acG>acA	p.T82T	TMC7_ENST00000569532.1_Silent_p.T192T|TMC7_ENST00000304381.5_Silent_p.T192T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	192						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTTACTCACGAAATACAAGA	0.418000													28	25					0	0	0.005443	0	0
KDM6B	23135	broad.mit.edu	37	17	7753485	7753485	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7753485C>T	ENST00000254846.5	+	13	4052	c.3663C>T	c.(3661-3663)tcC>tcT	p.S1221S	KDM6B_ENST00000448097.2_Silent_p.S1221S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1221					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGGCGGGCTCCCTGCGGCTCA	0.577000													7	6					0	0	0.001984	0	0
ANKK1	255239	broad.mit.edu	37	11	113264443	113264443	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:113264443C>T	ENST00000303941.3	+	2	520	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	142	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CGCCTCTGCTCCACCTGGACC	0.567000													4	7					0	0	0.000602	0	0
UBE2O	63893	broad.mit.edu	37	17	74387359	74387359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74387359G>A	ENST00000319380.7	-	18	3608	c.3544C>T	c.(3544-3546)Caa>Taa	p.Q1182*		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1182							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						GGTTCTTGTTGGCCGGAGTCT	0.687000													9	64					0	0	0.000443	0	0
MAS1	4142	broad.mit.edu	37	6	160328698	160328698	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:160328698C>T	ENST00000252660.4	+	1	725	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	237					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCATTATATTCCTCATCTTCG	0.478000													20	21					0	0	0.001523	0	0
ACAP1	9744	broad.mit.edu	37	17	7240682	7240682	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7240682G>A	ENST00000158762.3	+	2	311	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	35	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGACCCGTCTGGAAAAGGTGA	0.557000													16	45					0	0	0.004007	0	0
ALLC	55821	broad.mit.edu	37	2	3750043	3750043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:3750043G>A	ENST00000252505.3	+	12	1228	c.1066G>A	c.(1066-1068)Ggg>Agg	p.G356R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	375							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGTCCCCGACGGGGGAGTGAG	0.592000										HNSCC(21;0.051)			5	8					0	0	0.000602	0	0
RNF152	220441	broad.mit.edu	37	18	59483372	59483372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:59483372C>T	ENST00000312828.3	-	2	1424	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	109					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCGCACGCTCCTTGGAGATG	0.627000													9	13					0	0	0.000673	0	0
FAM83H	286077	broad.mit.edu	37	8	144809125	144809125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144809125G>A	ENST00000388913.3	-	5	2631	c.2506C>T	c.(2506-2508)Ctc>Ttc	p.L836F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	836					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGGCAGAGAGGAAGCGGGAA	0.701000													4	13					0	0	0.000248	0	0
OR8B2	26595	broad.mit.edu	37	11	124253153	124253153	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:124253153G>A	ENST00000375013.2	-	1	105	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTAGAAACAGGAAAAAGAGGG	0.413000													16	37					0	0	0.004990	0	0
HRNR	388697	broad.mit.edu	37	1	152192069	152192069	+	Missense_Mutation	SNP	C	C	T	rs140281819		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152192069C>T	ENST00000368801.2	-	3	2111	c.2036G>A	c.(2035-2037)gGg>gAg	p.G679E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	679					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCAGACCCATGTTGGCC	0.592000													78	76					0	0	0.003610	0	0
OR2F1	26211	broad.mit.edu	37	7	143657927	143657927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143657927G>A	ENST00000392899.1	+	1	901	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	288					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)					TGAACCCCATGATTTACAGCC	0.443000													23	38					0	0	0.003954	0	0
FBXO15	201456	broad.mit.edu	37	18	71740886	71740886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:71740886C>T	ENST00000269500.5	-	10	1450	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	FBXO15_ENST00000419743.2_Missense_Mutation_p.R448K|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	372										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGCAGGCGATCTCAGGCACAC	0.502000													33	75					0	0	0.002836	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065158	49065158	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:49065158G>A	ENST00000326739.4	-	5	555	c.516C>T	c.(514-516)gaC>gaT	p.D172D		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	172	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAAGAAACAGTCATGTTCCT	0.522000													37	36					0	0	0.002522	0	0
DMWD	1762	broad.mit.edu	37	19	46289820	46289820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:46289820G>A	ENST00000270223.6	-	3	979	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	DMWD_ENST00000377735.3_Missense_Mutation_p.H312Y	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	312					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)		GAGTCGAAGTGGAAGACGCGC	0.662000													8	16					0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55591205	55591205	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:55591205C>G	ENST00000373965.2	-	31	4487	c.4093G>C	c.(4093-4095)Gag>Cag	p.E1365Q	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1336Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1358Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1363Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1358Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.E969Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1358Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1365Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1358Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1321Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1287Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1358					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)				GTCACTGCCTCTGGAGTCCGG	0.458000										HNSCC(58;0.16)			28	28					0	0	0.001061	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450996	117450996	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:117450996A>G	ENST00000160373.3	-	3	328	c.237T>C	c.(235-237)aaT>aaC	p.N79N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	79										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTCATTTAGATTAAATCTCC	0.428000													30	44					0	0	0.002836	0	0
ACAN	176	broad.mit.edu	37	15	89402194	89402194	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:89402194C>T	ENST00000439576.2	+	12	6752	c.6378C>T	c.(6376-6378)tcC>tcT	p.S2126S	ACAN_ENST00000352105.7_Silent_p.S2126S|ACAN_ENST00000561243.1_Silent_p.S2126S|ACAN_ENST00000559004.1_Silent_p.S2126S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2126					cell adhesion		hyaluronic acid binding|sugar binding			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)			ATTCTGGGTCCCCTGATCTGA	0.552000													8	32					0	0	0.003080	0	0
ABCC1	4363	broad.mit.edu	37	16	16177228	16177228	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:16177228C>T	ENST00000399408.2	+	17	2296	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	ABCC1_ENST00000399410.3_Silent_p.S707S|ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000346370.5_Silent_p.S707S|ABCC1_ENST00000345148.5_Silent_p.S707S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	707	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTAGGGCTCCGTGGCCTATG	0.527000													15	27					0	0	0.000958	0	0
SLC6A12	6539	broad.mit.edu	37	12	307150	307150	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:307150G>T	ENST00000428720.1	-	9	1609	c.866C>A	c.(865-867)aCc>aAc	p.T289N	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T289N|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T289N|SLC6A12_ENST00000424061.2_Missense_Mutation_p.T289N|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T289N	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	289					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GAAGATCTGGGTGCCCGCATC	0.587000													14	12					1.99824e-07	3.44565e-07	0.004990	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698219	111698219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:111698219C>T	ENST00000340433.2	+	1	493	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	88							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAAATCTCTAATCCTGCA	0.448000													39	0					0	0	0.002222	0	0
PCSK5	5125	broad.mit.edu	37	9	78808217	78808217	+	Missense_Mutation	SNP	A	A	T	rs142979671		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:78808217A>T	ENST00000376752.4	+	21	3168	c.2691A>T	c.(2689-2691)caA>caT	p.Q897H	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	897	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATCTGTGCCAACGGAAGGTTC	0.433000													20	20					0	0	0.002780	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459888	107459888	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:107459888C>T	ENST00000409382.3	-	2	1156	c.546G>A	c.(544-546)agG>agA	p.R182R	ST6GAL2_ENST00000409087.3_Silent_p.R182R|ST6GAL2_ENST00000361686.4_Silent_p.R182R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	182					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACACGTGGCTCCTTCTCTGCC	0.647000													16	19					0	0	0.006122	0	0
TIE1	7075	broad.mit.edu	37	1	43772659	43772659	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:43772659C>T	ENST00000372476.3	+	4	712	c.633C>T	c.(631-633)atC>atT	p.I211I	TIE1_ENST00000538015.1_Silent_p.I211I|TIE1_ENST00000441333.2_Silent_p.I211I	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	211					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)				TTCGGCTCATCGTGCGGGGTC	0.637000													7	15					0	0	0.001984	0	0
C12orf42	374470	broad.mit.edu	37	12	103762703	103762703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:103762703G>A	ENST00000548048.1	-	7	516	c.20C>T	c.(19-21)tCt>tTt	p.S7F	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.S74F|C12orf42_ENST00000315192.8_Missense_Mutation_p.S74F|C12orf42_ENST00000378113.2_Missense_Mutation_p.S74F			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	74										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAATTTAGGAGATTCAGAGAA	0.363000													10	5					0	0	0.001368	0	0
CADPS2	93664	broad.mit.edu	37	7	122377021	122377021	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:122377021C>T	ENST00000334010.7	-	2	862	c.441G>A	c.(439-441)cgG>cgA	p.R147R	CADPS2_ENST00000412584.2_Silent_p.R147R|CADPS2_ENST00000313070.7_Silent_p.R147R|CADPS2_ENST00000449022.2_Silent_p.R147R	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	147					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATAATAACTCCGAACTGCGT	0.373000													15	19					0	0	0.003163	0	0
PLCB4	5332	broad.mit.edu	37	20	9364916	9364916	+	Missense_Mutation	SNP	C	C	T	rs78074693		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:9364916C>T	ENST00000378501.2	+	11	937	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	PLCB4_ENST00000334005.3_Missense_Mutation_p.R308C|PLCB4_ENST00000278655.4_Missense_Mutation_p.R308C|PLCB4_ENST00000378473.3_Missense_Mutation_p.R308C|PLCB4_ENST00000414679.2_Missense_Mutation_p.R308C|PLCB4_ENST00000378493.1_Missense_Mutation_p.R308C|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	308					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTCCTAGATCGTTTAGAACT	0.443000													29	41					0	0	0.001786	0	0
THSD7B	80731	broad.mit.edu	37	2	137872823	137872823	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137872823C>T	ENST00000409968.1	+	5	1507	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	THSD7B_ENST00000272643.3_Silent_p.A443A|THSD7B_ENST00000413152.2_Silent_p.A412A|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTACTGTGCCCAGAGCGTAC	0.612000													6	4					0	0	0.001168	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455305	70455305	+	Nonsense_Mutation	SNP	G	G	A	rs139303872	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:70455305G>A	ENST00000503640.1	-	6	1424	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.R413*|UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.R466*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.R457*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.R623*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R457*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGACTGCTCGATCCAGGGGC	0.448000													29	97					0	0	0.001061	0	0
MED12L	116931	broad.mit.edu	37	3	150903248	150903248	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:150903248G>A	ENST00000474524.1	+	11	1664	c.1626_splice	c.e11+1	p.E542_splice	MED12L_ENST00000422248.2_Splice_Site_p.E542_splice|MED12L_ENST00000273432.4_Splice_Site_p.E402_splice|MED12L_ENST00000309237.4_Splice_Site_p.E542_splice	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	542					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGAGGCAGAGGTAGGTTCCA	0.443000													15	12					0	0	0.004990	0	0
KRT1	3848	broad.mit.edu	37	12	53074092	53074092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:53074092C>T	ENST00000252244.3	-	1	99	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	14	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GAAGCCCCCTCCACTTCGGTA	0.537000													25	31					0	0	0.004656	0	0
S100P	6286	broad.mit.edu	37	4	6695775	6695775	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:6695775A>C	ENST00000296370.3	+	1	980	c.116A>C	c.(115-117)aAg>aCg	p.K39T	S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	39	EF-hand 1.				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CTGATGGAGAAGGAGCTACCA	0.632000													9	10					0	0	0.000673	0	0
MILR1	284021	broad.mit.edu	37	17	62462587	62462587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62462587C>T	ENST00000605096.1	+	2	119	c.119C>T	c.(118-120)cCa>cTa	p.P40L		NM_001085423.1	NP_001078892.1	Q7Z6M3	MILR1_HUMAN	mast cell immunoglobulin-like receptor 1	0	Ig-like C2-type 1.					integral to membrane|plasma membrane											AAGTGGGATCCAGGCCGTGTG	0.463000													15	12					0	0	0.003163	0	0
ZFHX3	463	broad.mit.edu	37	16	72822404	72822404	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:72822404G>A	ENST00000268489.5	-	10	10443	c.9771C>T	c.(9769-9771)ccC>ccT	p.P3257P	ZFHX3_ENST00000397992.5_Silent_p.P2343P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3257					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)				TCTCCTTCTTGGGGACAGGCA	0.587000													43	56					0	0	0.002222	0	0
RFT1	91869	broad.mit.edu	37	3	53155743	53155743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:53155743C>T	ENST00000296292.3	-	5	591	c.530G>A	c.(529-531)tGg>tAg	p.W177*	RFT1_ENST00000394738.3_Nonsense_Mutation_p.W138*	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	177					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GTACAATCCCCAGTGAGGCAA	0.433000													11	14					0	0	0.000978	0	0
RBP3	5949	broad.mit.edu	37	10	48382025	48382025	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:48382025C>T	ENST00000224600.4	-	4	3737	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1208	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCACCCCCACCCCTTCCCAGG	0.642000													6	7					0	0	0.003080	0	0
FECH	2235	broad.mit.edu	37	18	55247340	55247340	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:55247340G>A	ENST00000262093.5	-	2	310	c.159C>T	c.(157-159)gcC>gcT	p.A53A	FECH_ENST00000382873.3_Silent_p.A53A|FECH_ENST00000585699.1_Intron	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	53					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TTGCACCCTGGGCATGCTGGG	0.512000													21	16					0	0	0.001216	0	0
ERN1	2081	broad.mit.edu	37	17	62130643	62130643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62130643G>A	ENST00000433197.2	-	16	2137	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	681	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATGTTGAGGGAGTGGAGGTG	0.627000													7	31					0	0	0.004482	0	0
GNAT1	2779	broad.mit.edu	37	3	50232077	50232077	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:50232077G>A	ENST00000232461.3	+	7	966	c.852G>A	c.(850-852)ccG>ccA	p.P284P	GNAT1_ENST00000433068.1_Silent_p.P284P	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	284					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)		TCTGTTTCCCGGACTACGATG	0.632000											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	43					0	0	0.003271	0	0
ADD2	119	broad.mit.edu	37	2	70904955	70904955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:70904955C>T	ENST00000264436.3	-	12	1882	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ADD2_ENST00000407644.2_Missense_Mutation_p.E480K|ADD2_ENST00000430656.1_Missense_Mutation_p.E496K|ADD2_ENST00000355733.3_Missense_Mutation_p.E480K|ADD2_ENST00000413157.2_Missense_Mutation_p.E480K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	480					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTGGGTTTTCGATGCGAATC	0.517000													5	14					0	0	0.001984	0	0
RNF145	153830	broad.mit.edu	37	5	158588570	158588570	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:158588570C>G	ENST00000424310.2	-	10	1689	c.1330G>C	c.(1330-1332)Gtg>Ctg	p.V444L	RNF145_ENST00000521606.2_Missense_Mutation_p.V461L|RNF145_ENST00000274542.2_Missense_Mutation_p.V472L|RNF145_ENST00000520638.1_Missense_Mutation_p.V458L|RNF145_ENST00000518802.1_Missense_Mutation_p.V474L|RNF145_ENST00000519865.1_Missense_Mutation_p.V444L|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	444						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)			ATGTTTTCCACTGGCTCTTTT	0.398000													24	7					0	0	0.002299	0	0
VWA8	23078	broad.mit.edu	37	13	42179406	42179406	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:42179406C>T	ENST00000379310.3	-	40	4952	c.4884G>A	c.(4882-4884)aaG>aaA	p.K1628K		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTTGGATCTCCTTTAGCCTGA	0.423000													16	62					0	0	0.003163	0	0
NLRP12	91662	broad.mit.edu	37	19	54313569	54313569	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54313569C>T	ENST00000324134.6	-	3	1512	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G	NLRP12_ENST00000391772.1_Silent_p.G448G|NLRP12_ENST00000391775.3_Silent_p.G448G|NLRP12_ENST00000345770.5_Silent_p.G448G|NLRP12_ENST00000354278.3_Silent_p.G448G|NLRP12_ENST00000351894.4_Silent_p.G448G|NLRP12_ENST00000535162.1_Silent_p.G448G|NLRP12_ENST00000391773.1_Silent_p.G448G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	448	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCGCGGGGCCCCCGGCTTGG	0.617000													11	34					0	0	0.000978	0	0
MYH4	4622	broad.mit.edu	37	17	10358975	10358975	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10358975C>T	ENST00000255381.2	-	19	2240	c.2130G>A	c.(2128-2130)agG>agA	p.R710R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	710	Myosin head-like.				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						GGAAGCCTTTCCTGCAGATGC	0.453000													13	40					0	0	0.003163	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750415	167750415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167750415G>A	ENST00000470487.1	-	9	1758	c.1069C>T	c.(1069-1071)Ctt>Ttt	p.L357F	GOLIM4_ENST00000309027.4_Missense_Mutation_p.L329F	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	357	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCTCCTCAAGATGTTCTGCT	0.572000													27	85					0	0	0.005443	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610002	38610002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:38610002G>A	ENST00000222345.6	+	9	2857	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	783	Rap-GAP.				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)			ATCCCCAGTGGAACCACATTC	0.542000													54	51					0	0	0.003610	0	0
PLD5	200150	broad.mit.edu	37	1	242287770	242287770	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:242287770C>T	ENST00000442594.2	-	7	1166	c.657_splice	c.e7+1	p.S219_splice	PLD5_ENST00000536534.1_Splice_Site_p.S311_splice|PLD5_ENST00000427495.1_Splice_Site_p.S249_splice	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	311	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AACAACTCACCGATACAAATG	0.393000													5	33					0	0	0.000602	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996724	228996724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:228996724G>A	ENST00000392056.3	-	2	156	c.110C>T	c.(109-111)cCg>cTg	p.P37L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P37L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	37						cytoplasm	protein binding	p.P37Q(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)		GGAGTTCCCCGGGCCGCTTCC	0.468000													16	66					0	0	0.004007	0	0
DNAJC10	54431	broad.mit.edu	37	2	183623904	183623904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:183623904C>T	ENST00000264065.6	+	21	2430	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	672	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCTCAAGTATCCACAGATCTA	0.328000													10	28					0	0	0.000443	0	0
CMSS1	84319	broad.mit.edu	37	3	99886587	99886587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:99886587C>T	ENST00000421999.2	+	6	567	c.421C>T	c.(421-423)Cct>Tct	p.P141S	CMSS1_ENST00000489081.1_Missense_Mutation_p.P123S	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TCCAGTTTGTCCTAAGTGGGT	0.423000													23	71					0	0	0.004656	0	0
URI1	8725	broad.mit.edu	37	19	30502112	30502112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:30502112C>T	ENST00000392271.1	+	9	1444	c.919C>T	c.(919-921)Ccg>Tcg	p.P307S	URI1_ENST00000360605.4_Missense_Mutation_p.P365S|URI1_ENST00000542441.2_Missense_Mutation_p.P383S|URI1_ENST00000312051.6_Missense_Mutation_p.P343S	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	383	Poly-Asp.				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CCAGGAGCTGCCGACCATCAG	0.512000													48	62					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24923506	24923506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:24923506C>T	ENST00000329468.2	+	1	2966	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCCCTCCTTCCAAAACTGTC	0.498000													51	55					0	0	0.003610	0	0
VTN	7448	broad.mit.edu	37	17	26696597	26696597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:26696597C>T	ENST00000226218.4	-	3	1078	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	154					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTGCACAGCTCCTCCTCTGCT	0.632000													14	15					0	0	0.006122	0	0
C7	730	broad.mit.edu	37	5	40955534	40955534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:40955534G>A	ENST00000313164.9	+	10	1498	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	380	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCAGAGGGGGAGGTGCAGGC	0.423000													56	43					0	0	0.003610	0	0
IL21R	50615	broad.mit.edu	37	16	27460580	27460580	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:27460580G>A	ENST00000337929.3	+	9	2066	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Silent_p.S531S|IL21R_ENST00000395755.1_Silent_p.S531S|IL21R_ENST00000395754.4_Silent_p.S531S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	531					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCCACTTTCGAGCCCTGGAC	0.652000			T	BCL6	NHL								9	19					0	0	0.000978	0	0
MKI67	4288	broad.mit.edu	37	10	129901361	129901361	+	Silent	SNP	G	G	A	rs149549696	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:129901361G>A	ENST00000368654.3	-	13	9118	c.8743C>T	c.(8743-8745)Ctg>Ttg	p.L2915L	MKI67_ENST00000368653.3_Silent_p.L2555L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2915	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)				AGATCTTCCAGGGGTTGGGCC	0.522000													59	72					0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52551110	52551110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:52551110G>A	ENST00000321725.6	+	42	4550	c.4474G>A	c.(4474-4476)Ggg>Agg	p.G1492R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1492	EGF-like 11.				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)		CATGGGCGACGGGGAGCTGTG	0.622000													8	22					0	0	0.004482	0	0
MTG2	26164	broad.mit.edu	37	20	60772927	60772927	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:60772927C>T	ENST00000370823.3	+	4	390	c.372C>T	c.(370-372)tcC>tcT	p.S124S	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		AAGTCAAGTCCCTGTCGTCGG	0.527000													22	37					0	0	0.003330	0	0
KCNC1	3746	broad.mit.edu	37	11	17793886	17793886	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:17793886G>A	ENST00000379472.3	+	2	1275	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	KCNC1_ENST00000265969.6_Silent_p.L415L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	415						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCGGCATGCTGGTGGGGGCTC	0.602000													16	54					0	0	0.006122	0	0
SI	6476	broad.mit.edu	37	3	164766919	164766919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:164766919C>T	ENST00000264382.3	-	15	1773	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	571	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTACTGCTCTGTGGCTATA	0.333000										HNSCC(35;0.089)			25	18					0	0	0.001271	0	0
CACNA1E	777	broad.mit.edu	37	1	181741302	181741302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:181741302G>A	ENST00000526775.1	+	36	5182	c.5017G>A	c.(5017-5019)Gaa>Aaa	p.E1673K	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1692K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1643K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1299K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1624K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1673K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1692K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1692					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						GAACGAGAACGAACGCTGCGG	0.557000													39	47					0	0	0.001951	0	0
CACNB2	783	broad.mit.edu	37	10	18789789	18789789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:18789789G>A	ENST00000396576.2	+	4	841	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CACNB2_ENST00000282343.8_Missense_Mutation_p.E141K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E169K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E114K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E169K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E141K|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.E115K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E121K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	169	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAAGGCTGTGAAATCGGATT	0.408000													14	42					0	0	0.003163	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809632	18809632	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:18809632C>T	ENST00000400664.1	+	1	2209	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	719						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGTGCGCCGTGGTGGACA	0.652000													6	18					0	0	0.003080	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142163	133142163	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:133142163C>T	ENST00000388996.4	-	15	2385	c.1965G>A	c.(1963-1965)acG>acA	p.T655T	KCNQ3_ENST00000519445.1_Silent_p.T643T|KCNQ3_ENST00000521134.1_Silent_p.T535T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	655					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTAATACTCCGTGACCTGCA	0.502000													23	62					0	0	0.003330	0	0
COL2A1	1280	broad.mit.edu	37	12	48378799	48378799	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:48378799G>A	ENST00000380518.3	-	27	1976	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.F535F	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	604	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGGCCAGGGAAACCCATGA	0.567000													11	13					0	0	0.000978	0	0
ASTN1	460	broad.mit.edu	37	1	176863960	176863960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:176863960G>A	ENST00000367654.2	-	17	2715	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	ASTN1_ENST00000367657.3_Missense_Mutation_p.S893F|ASTN1_ENST00000361833.2_Missense_Mutation_p.S893F|ASTN1_ENST00000424564.2_Missense_Mutation_p.S893F			O14525	ASTN1_HUMAN	astrotactin 1	901					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						ATCTGATGGGGAGTTGCCTGC	0.517000													29	34					0	0	0.002445	0	0
CREBBP	1387	broad.mit.edu	37	16	3819272	3819272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3819272G>A	ENST00000262367.5	-	15	3772	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L	CREBBP_ENST00000382070.3_Missense_Mutation_p.P950L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	988					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCAGGTCCTGGCTGCTGGGA	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						23	26					0	0	0.002299	0	0
TRPC6	7225	broad.mit.edu	37	11	101343009	101343009	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:101343009C>T	ENST00000344327.3	-	8	2488	c.2064G>A	c.(2062-2064)gtG>gtA	p.V688V	TRPC6_ENST00000360497.4_Silent_p.V633V|TRPC6_ENST00000348423.4_Silent_p.V572V|TRPC6_ENST00000532133.1_Silent_p.V610V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	688					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCACTGATTTCACTTCAGAAA	0.318000													36	42					0	0	0.003755	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386733	56386733	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56386733G>A	ENST00000355701.3	-	22	4770	c.3900C>T	c.(3898-3900)ccC>ccT	p.P1300P	BZRAP1_ENST00000343736.4_Silent_p.P1300P|BZRAP1_ENST00000268893.6_Silent_p.P1240P	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1300						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAAGGGGTCGGGCTGGGACT	0.582000													11	36					0	0	0.001368	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:50329948G>A	ENST00000336089.4	-	3	309	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000													13	19					0	0	0.003163	0	0
CILP2	148113	broad.mit.edu	37	19	19656741	19656741	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:19656741C>T	ENST00000586018.1	+	8	3507	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	CILP2_ENST00000291495.4_Silent_p.I1129I			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1129						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						TTGGTGACATCCGCAGGGAGA	0.731000													8	9					0	0	0.000443	0	0
C15orf65	145788	broad.mit.edu	37	15	55710426	55710426	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:55710426G>A	ENST00000569691.1	+	2	245	c.24G>A	c.(22-24)aaG>aaA	p.K8K	C15orf65_ENST00000570794.1_3'UTR|DYX1C1_ENST00000380679.1_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron	NM_001198784.1	NP_001185713.1			chromosome 15 open reading frame 65																		TTTAGGATAAGAAAAGTACTT	0.343000													6	5					0	0	0.001168	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469567	21469567	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:21469567G>A	ENST00000298681.4	+	4	916	c.759G>A	c.(757-759)ggG>ggA	p.G253G	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	253						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CTGAAGGAGGGCGGGGCTTAG	0.572000													29	34					0	0	0.001271	0	0
FCRL3	115352	broad.mit.edu	37	1	157666086	157666086	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:157666086G>A	ENST00000368184.3	-	7	1167	c.876C>T	c.(874-876)atC>atT	p.I292I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.I292I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	292	Ig-like C2-type 4.					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)					CGGTGGGCCGGATCTCTAGAT	0.527000													16	58					0	0	0.004990	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092607	50092607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:50092607C>T	ENST00000298292.8	-	3	2247	c.2167G>A	c.(2167-2169)Ggt>Agt	p.G723S	DNAAF2_ENST00000406043.3_Missense_Mutation_p.G675S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	723					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GTAACTAAACCAAAGCTATCT	0.323000													20	31					0	0	0.001216	0	0
YME1L1	10730	broad.mit.edu	37	10	27404987	27404987	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:27404987A>G	ENST00000326799.3	-	18	2240		c.e18+1		YME1L1_ENST00000376016.3_Splice_Site|YME1L1_ENST00000375972.3_Splice_Site	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAATCTATTACCTTTTCACT	0.299000													53	54					0	0	0.003610	0	0
A1CF	29974	broad.mit.edu	37	10	52587988	52587988	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:52587988T>A	ENST00000395489.2	-	9	1047	c.651A>T	c.(649-651)gaA>gaT	p.E217D	A1CF_ENST00000282641.2_Missense_Mutation_p.E224D|A1CF_ENST00000373993.1_Missense_Mutation_p.E224D|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.E232D|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.E224D|A1CF_ENST00000374001.1_Missense_Mutation_p.E224D	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	224	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACATTGTATCTTCATCAACTT	0.353000													34	50					0	0	0.002445	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187042	140187042	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140187042C>T	ENST00000530339.1	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.I90I|PCDHA4_ENST00000356878.4_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.622000													22	49					0	0	0.002780	0	0
MBD3	53615	broad.mit.edu	37	19	1578341	1578341	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:1578341A>T	ENST00000590550.2	-	5	1079	c.706T>A	c.(706-708)Tag>Aag	p.*236K	MBD3_ENST00000592012.1_Nonstop_Mutation_p.*260K|MBD3_ENST00000156825.1_Nonstop_Mutation_p.*292K|MBD3_ENST00000434436.3_Nonstop_Mutation_p.*292K			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	0					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGCCCTAGACGTGCTCC	0.692000													9	11					0	0	0.000673	0	0
CTNND2	1501	broad.mit.edu	37	5	11159866	11159866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:11159866G>A	ENST00000304623.8	-	12	2170	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	CTNND2_ENST00000359640.2_Missense_Mutation_p.L661F|CTNND2_ENST00000503622.1_Missense_Mutation_p.L324F|CTNND2_ENST00000458100.2_Missense_Mutation_p.L228F|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.L570F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	661					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						AGGTTCCAAAGGACTCCTGCA	0.488000													17	45					0	0	0.006122	0	0
PARP10	84875	broad.mit.edu	37	8	145058973	145058973	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145058973G>A	ENST00000313028.7	-	5	1291	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	PARP10_ENST00000525773.1_Silent_p.G411G|PARP10_ENST00000524918.1_Silent_p.G399G	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	399						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTCCACCAGGCCCTCCTGCC	0.652000													36	33					0	0	0.003755	0	0
BZW1	9689	broad.mit.edu	37	2	201681928	201681928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:201681928C>T	ENST00000409600.1	+	6	957	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	BZW1_ENST00000409226.1_Missense_Mutation_p.L172F|BZW1_ENST00000452790.2_Missense_Mutation_p.L200F	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGCATCCATTCTTAATAGCCT	0.413000													12	46					0	0	0.001855	0	0
PTPRS	5802	broad.mit.edu	37	19	5219985	5219985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:5219985G>A	ENST00000372412.4	-	22	3966	c.3733C>T	c.(3733-3735)Ctc>Ttc	p.L1245F	PTPRS_ENST00000588012.1_Missense_Mutation_p.L1222F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.L1222F|PTPRS_ENST00000587303.1_Missense_Mutation_p.L1244F|PTPRS_ENST00000357368.4_Missense_Mutation_p.L1244F|PTPRS_ENST00000592099.1_Missense_Mutation_p.L813F|PTPRS_ENST00000353284.2_Missense_Mutation_p.L813F|PTPRS_ENST00000262963.6_Missense_Mutation_p.L1240F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1244					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)		AGCACGAAGAGGACATAGCGG	0.612000													33	53					0	0	0.001287	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100553	39100553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:39100553G>A	ENST00000591517.1	-	12	951	c.923C>T	c.(922-924)cCc>cTc	p.P308L	MAP4K1_ENST00000589130.1_Missense_Mutation_p.P304L|MAP4K1_ENST00000586296.1_Missense_Mutation_p.P308L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.P308L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	308					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTCACCTCGGGCTCCTCATC	0.587000													11	40					0	0	0.002450	0	0
GPR137B	7107	broad.mit.edu	37	1	236343290	236343290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:236343290C>T	ENST00000366592.3	+	4	890	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	GPR137B_ENST00000366591.4_Missense_Mutation_p.H176Y	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	267						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAAGAGCGTCCATTCCTTTGA	0.517000													12	51					0	0	0.001855	0	0
HACE1	57531	broad.mit.edu	37	6	105198315	105198315	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:105198315T>C	ENST00000262903.4	-	20	2520	c.2244A>G	c.(2242-2244)cgA>cgG	p.R748R	HACE1_ENST00000369125.2_Silent_p.R533R|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	748	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTCTTGTCATTCGAAGTTCAG	0.358000													20	16					0	0	0.003954	0	0
COLEC10	10584	broad.mit.edu	37	8	120118306	120118306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:120118306G>A	ENST00000332843.2	+	6	751	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	237	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TGGAATGAGGGGGAACCCAGC	0.498000													13	36					0	0	0.001855	0	0
MYLK3	91807	broad.mit.edu	37	16	46763013	46763013	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46763013G>A	ENST00000394809.4	-	7	1810	c.1695C>T	c.(1693-1695)aaC>aaT	p.N565N	MYLK3_ENST00000536476.1_Silent_p.N224N	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	565	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCTGAGCTGGTTCATGATGT	0.552000													33	42					0	0	0.004289	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604120	111604120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:111604120G>A	ENST00000431670.2	+	2	1607	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.R426K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R399K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R399K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R399K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R399K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R399K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	399						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAAAGCCTCAGACAGGCCTCA	0.517000													39	40					0	0	0.001287	0	0
PIGF	5281	broad.mit.edu	37	2	46840911	46840911	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:46840911A>G	ENST00000281382.6	-	3	412	c.242T>C	c.(241-243)tTg>tCg	p.L81S	PIGF_ENST00000495933.1_5'UTR|PIGF_ENST00000306465.4_Missense_Mutation_p.L81S	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	81					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACAGCATTTCAAAAATCCAGT	0.308000													3	10					0	0	0.004672	0	0
CCDC89	220388	broad.mit.edu	37	11	85396053	85396053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:85396053G>A	ENST00000316398.3	-	1	1267	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	374						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACTTCCCTATGGAGAGAGATG	0.418000													23	41					0	0	0.001061	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671596	51671596	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51671596G>A	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							GTGTGACCACGGAGAGAACCA	0.622000													3	6					0	0	0.004672	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491705	73491705	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73491705C>T	ENST00000314256.7	+	22	3319	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	KIAA0195_ENST00000579208.1_Silent_p.F626F|KIAA0195_ENST00000375248.5_Silent_p.F985F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	975					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCCCTTTTCACCGACTGCA	0.642000													45	112					0	0	0.003214	0	0
PAPPA	5069	broad.mit.edu	37	9	119097311	119097311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:119097311G>A	ENST00000328252.3	+	13	3938	c.3569G>A	c.(3568-3570)aGc>aAc	p.S1190N	PAPPA_ENST00000534838.1_Missense_Mutation_p.S228N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1190					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTCACCCTGAGCAGCTGCCAG	0.637000													10	50					0	0	0.000978	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171931	207171931	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:207171931G>A	ENST00000374423.3	+	5	3065	c.2679G>A	c.(2677-2679)aaG>aaA	p.K893K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	893							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						CTGTTAAAAAGCTAAATCCTC	0.353000													26	14					0	0	0.003330	0	0
MTMR14	64419	broad.mit.edu	37	3	9731824	9731824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:9731824C>T	ENST00000296003.4	+	17	1732	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.P537L|MTMR14_ENST00000351233.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	537						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTCCCCAAACCCAGGTGAGGA	0.572000													10	24					0	0	0.000673	0	0
TRIM24	8805	broad.mit.edu	37	7	138269649	138269649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:138269649C>T	ENST00000343526.4	+	19	3321	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	TRIM24_ENST00000415680.2_Missense_Mutation_p.R1002W			O15164	TIF1A_HUMAN	tripartite motif containing 24	1036					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGTACAGCCCCGGAAGAAACG	0.363000													35	21					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179621069	179621069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179621069C>T	ENST00000589042.1	-	46	11358	c.11134G>A	c.(11134-11136)Gga>Aga	p.G3712R	TTN_ENST00000342175.6_Missense_Mutation_p.G3541R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3396	Ig-like 22.						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)			TGAATATTTCCATTTTGTGAT	0.398000													20	58					0	0	0.000958	0	0
ASPM	259266	broad.mit.edu	37	1	197099171	197099171	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197099171G>T	ENST00000367409.4	-	8	2759	c.2503C>A	c.(2503-2505)Ctc>Atc	p.L835I	ASPM_ENST00000367408.1_Missense_Mutation_p.L85I|ASPM_ENST00000294732.7_Missense_Mutation_p.L835I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	835					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAGATATGAGTTCTCCATAA	0.388000													28	34					3.65163e-15	6.3297e-15	0.001061	1	0
PRMT5	10419	broad.mit.edu	37	14	23395485	23395485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23395485G>A	ENST00000324366.8	-	7	857	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	PRMT5_ENST00000538452.1_Missense_Mutation_p.L106F|PRMT5_ENST00000397441.2_Missense_Mutation_p.L195F|PRMT5_ENST00000216350.8_Missense_Mutation_p.L151F|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Missense_Mutation_p.L168F|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	212					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTAGATGGGAGGTCAGCCCCA	0.473000													34	48					0	0	0.002836	0	0
MB21D2	151963	broad.mit.edu	37	3	192516251	192516251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:192516251C>T	ENST00000392452.2	-	2	1720	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	467										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATTGACTTTCCCGGGTTCTC	0.473000													47	67					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8769119	8769119	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:8769119C>T	ENST00000378641.3	+	28	3610	c.3135C>T	c.(3133-3135)gtC>gtT	p.V1045V	PLCB1_ENST00000378637.2_Silent_p.V1045V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.V1045V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1045					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						TGACGGATGTCGCAGAAGAGT	0.383000													9	9					0	0	0.001368	0	0
INPP5D	3635	broad.mit.edu	37	2	233990557	233990557	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:233990557G>C	ENST00000359570.5	+	4	452	c.452G>C	c.(451-453)cGa>cCa	p.R151P	INPP5D_ENST00000538935.1_Missense_Mutation_p.R151P|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	151					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAGAATCCCCGAGCGACCGAG	0.602000													8	7					0	0	0.003080	0	0
STK36	27148	broad.mit.edu	37	2	219540913	219540913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219540913C>T	ENST00000295709.3	+	6	875	c.596C>T	c.(595-597)cCc>cTc	p.P199L	STK36_ENST00000440309.1_Missense_Mutation_p.P199L|STK36_ENST00000392106.2_Missense_Mutation_p.P199L|STK36_ENST00000392105.3_Missense_Mutation_p.P199L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	199	Protein kinase.				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)		GGCACCCCTCCCTTCTATGCT	0.517000													16	43					0	0	0.004007	0	0
KCND2	3751	broad.mit.edu	37	7	120381675	120381675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:120381675C>T	ENST00000331113.4	+	3	2331	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	456					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACTCAGTAATCAGCTGCAGGT	0.363000													21	18					0	0	0.001523	0	0
PCLO	27445	broad.mit.edu	37	7	82578946	82578946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:82578946G>A	ENST00000423517.2	-	6	11295	c.10958C>T	c.(10957-10959)cCa>cTa	p.P3653L	PCLO_ENST00000437081.1_Missense_Mutation_p.P373L|PCLO_ENST00000333891.8_Missense_Mutation_p.P3653L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3584					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						TACTTTCTGTGGACTTATATC	0.473000													73	76					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179436313	179436313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179436313C>T	ENST00000589042.1	-	326	74770	c.74546G>A	c.(74545-74547)cGg>cAg	p.R24849Q	TTN_ENST00000342175.6_Missense_Mutation_p.R15976Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23208Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15784Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15909Q|TTN_ENST00000342992.6_Missense_Mutation_p.R22281Q|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23208	Fibronectin type-III 81.						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)			GGAAGTGTCCCGTTTCTCAAC	0.413000													10	10					0	0	0.001855	0	0
FRG2B	441581	broad.mit.edu	37	10	135440242	135440242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:135440242C>T	ENST00000443774.1	-	1	54	c.5G>A	c.(4-6)gGa>gAa	p.G2E	FRG2B_ENST00000425520.1_Missense_Mutation_p.G2E			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	2						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATTTCCCTTTCCCATGTTGAA	0.532000													18	133					0	0	0.001271	0	0
BMP3	651	broad.mit.edu	37	4	81966962	81966962	+	Silent	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:81966962T>A	ENST00000282701.2	+	2	707	c.387T>A	c.(385-387)tcT>tcA	p.S129S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	129					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACATTTTGTCTGCCACACTGT	0.413000													32	48					0	0	0.002445	0	0
FUT3	2525	broad.mit.edu	37	19	5844392	5844392	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:5844392G>A	ENST00000303225.6	-	3	1093	c.459C>T	c.(457-459)ttC>ttT	p.F153F	FUT3_ENST00000458379.2_Silent_p.F153F|FUT3_ENST00000589620.1_Silent_p.F153F|FUT3_ENST00000589918.1_Silent_p.F153F	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	153					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGTGAGATTGAAGTATCTGT	0.647000													22	24					0	0	0.002780	0	0
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:47576971C>T	ENST00000359314.5	+	16	2201	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	582					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.S582C(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393000													35	35					0	0	0.005524	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102469167	102469167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:102469167C>T	ENST00000360184.4	+	23	4912	c.4748C>T	c.(4747-4749)tCc>tTc	p.S1583F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1583	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						AAAAAAGTGTCCAAGTCTCCC	0.443000													12	47					0	0	0.001855	0	0
CFTR	1080	broad.mit.edu	37	7	117174390	117174390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:117174390C>T	ENST00000003084.6	+	5	682	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	CFTR_ENST00000454343.1_Missense_Mutation_p.L184F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	184	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)	TGTTAGTCTCCTTTCCAACAA	0.308000									Cystic Fibrosis				17	24					0	0	0.001523	0	0
SCN9A	6335	broad.mit.edu	37	2	167129258	167129258	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:167129258T>A	ENST00000303354.6	-	17	3345	c.3005A>T	c.(3004-3006)tAt>tTt	p.Y1002F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.Y1002F|SCN9A_ENST00000409672.1_Missense_Mutation_p.Y990F|SCN9A_ENST00000409435.1_Missense_Mutation_p.Y1001F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1001						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTGTTTCACATAATTTATTCC	0.348000													7	24					0	0	0.003080	0	0
ECE1	1889	broad.mit.edu	37	1	21562382	21562382	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:21562382G>A	ENST00000415912.2	-	13	1604	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	ECE1_ENST00000374893.6_Silent_p.F509F|ECE1_ENST00000264205.6_Silent_p.F506F|ECE1_ENST00000436918.2_Silent_p.F509F|ECE1_ENST00000357071.4_Silent_p.F497F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATCCATGATGAAGTTGGGGT	0.552000													17	64					0	0	0.001882	0	0
TINAG	27283	broad.mit.edu	37	6	54219385	54219385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:54219385G>A	ENST00000259782.4	+	9	1297	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	401					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.E401*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CACAAATAAAGAATCAGAAAA	0.323000													29	26					0	0	0.001512	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475784	27475784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:27475784G>A	ENST00000356183.4	-	34	5744	c.5729C>T	c.(5728-5730)cCa>cTa	p.P1910L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1910L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1910						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						GGGTGGAGATGGGGCCTGGGC	0.642000													40	34					0	0	0.001706	0	0
KERA	11081	broad.mit.edu	37	12	91445206	91445206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:91445206G>A	ENST00000266719.3	-	3	1223	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	326					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CCATCCAGACGGAGGTAGCGA	0.443000													16	20					0	0	0.004990	0	0
ZNF554	115196	broad.mit.edu	37	19	2834600	2834600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:2834600G>A	ENST00000317243.5	+	5	1565	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CAGCACGAGCGAACTCACACG	0.547000													11	24					0	0	0.001855	0	0
DUS1L	64118	broad.mit.edu	37	17	80018758	80018758	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80018758G>A	ENST00000354321.7	-	8	1407	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	DUS1L_ENST00000306796.5_Silent_p.L308L			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	308					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	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)			CGCAGCTTCAGCTCCTGGCTC	0.672000													4	26					0	0	0.000602	0	0
ZNF570	148268	broad.mit.edu	37	19	37975998	37975998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:37975998C>T	ENST00000330173.1	+	5	2003	c.1474C>T	c.(1474-1476)Cat>Tat	p.H492Y	ZNF570_ENST00000388801.3_Missense_Mutation_p.H289Y|ZNF570_ENST00000586475.1_Missense_Mutation_p.H548Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATACTGGAGA	0.433000													29	33					0	0	0.001512	0	0
DVL3	1857	broad.mit.edu	37	3	183887885	183887885	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:183887885C>T	ENST00000313143.3	+	14	1838	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	DVL3_ENST00000431765.1_Silent_p.A513A|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	530					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)			CGGGGGCCGCCCCTTGGCCCA	0.682000													6	21					0	0	0.001168	0	0
AXDND1	126859	broad.mit.edu	37	1	179347892	179347892	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:179347892G>A	ENST00000367618.3	+	5	882	c.495_splice	c.e5+1	p.K165_splice	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.K165_splice	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	165										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGCCCCATAAGGTAAATAAAG	0.333000													19	35					0	0	0.001216	0	0
SLC12A3	6559	broad.mit.edu	37	16	56947280	56947280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:56947280G>A	ENST00000438926.2	+	26	3085	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	SLC12A3_ENST00000563236.1_Missense_Mutation_p.G1010E|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G1018E|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G1009E|SLC12A3_ENST00000563352.1_3'UTR	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	1010					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGATCCGAGGAAACCAGGAA	0.552000													47	52					0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61687684	61687684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:61687684G>A	ENST00000577390.1	-	12	3182	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	743					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATCTGAATGGAGTCATATGG	0.498000													11	32					0	0	0.000673	0	0
ABCC9	10060	broad.mit.edu	37	12	21997802	21997802	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:21997802G>A	ENST00000261200.4	-	25	3143	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.F1012F|ABCC9_ENST00000261201.4_Silent_p.F1048F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1048	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGCAAAGGAAAATGCCTG	0.408000													20	22					0	0	0.000958	0	0
ZNF66	7617	broad.mit.edu	37	19	20975437	20975437	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:20975437C>T	ENST00000344519.8	+	2	146	c.123C>T	c.(121-123)gtC>gtT	p.V41V	ZNF66_ENST00000425625.1_Silent_p.V87V|ZNF66_ENST00000594534.1_Silent_p.V41V|ZNF66_ENST00000360204.5_Silent_p.V19V																							GAAACCTGGTCTTTCTTGGTG	0.328000													10	62					0	0	0.001368	0	0
GPR116	221395	broad.mit.edu	37	6	46826784	46826784	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:46826784C>T	ENST00000283296.7	-	17	3144	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_ENST00000265417.7_Silent_p.T952T|GPR116_ENST00000456426.2_Silent_p.T810T|GPR116_ENST00000545669.1_Silent_p.T381T|GPR116_ENST00000362015.4_Silent_p.T952T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483000													29	25					0	0	0.001512	0	0
STARD13	90627	broad.mit.edu	37	13	33681014	33681014	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:33681014C>T	ENST00000336934.5	-	13	3221	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	STARD13_ENST00000399365.3_Silent_p.E917E|STARD13_ENST00000255486.4_Silent_p.E1027E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1035	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTCCTCATGCTCCACGGAGA	0.537000													36	37					0	0	0.003755	0	0
AFF3	3899	broad.mit.edu	37	2	100210262	100210262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:100210262G>A	ENST00000317233.4	-	14	2096	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S	AFF3_ENST00000409579.1_Missense_Mutation_p.P646S|AFF3_ENST00000409236.1_Missense_Mutation_p.P621S|AFF3_ENST00000356421.2_Missense_Mutation_p.P646S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	621					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCTCCGGGGGGACCACCACG	0.741000													7	22					0	0	0.004482	0	0
UNC79	57578	broad.mit.edu	37	14	94044228	94044228	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94044228A>T	ENST00000553484.1	+	18	2406	c.2252A>T	c.(2251-2253)aAt>aTt	p.N751I	UNC79_ENST00000256339.4_Missense_Mutation_p.N574I|UNC79_ENST00000555664.1_Missense_Mutation_p.N751I|UNC79_ENST00000393151.2_Missense_Mutation_p.N751I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	751						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTCAGCACAATATGCTTAGT	0.458000													90	98					0	0	0.003610	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564597	84564597	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:84564597C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CAGGGCTATCCCTGCAACTAC	0.522000													7	10					0	0	0.001984	0	0
TACC2	10579	broad.mit.edu	37	10	123845920	123845920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123845920G>A	ENST00000369005.1	+	4	4245	c.3905G>A	c.(3904-3906)gGg>gAg	p.G1302E	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.G1302E|TACC2_ENST00000453444.2_Missense_Mutation_p.G1302E|TACC2_ENST00000515603.1_Missense_Mutation_p.G1302E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1302E|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1302						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)				GCTGCAGGTGGGGAAATCCCT	0.602000													6	9					0	0	0.003080	0	0
CRNN	49860	broad.mit.edu	37	1	152382338	152382338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152382338C>T	ENST00000271835.3	-	3	1282	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	407					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCTTGCCCCAGTCTGGGC	0.612000													22	33					0	0	0.001523	0	0
OR52A1	23538	broad.mit.edu	37	11	5173160	5173160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5173160C>T	ENST00000380367.1	-	2	857	c.440G>A	c.(439-441)gGa>gAa	p.G147E	OR52A1_ENST00000328942.1_Missense_Mutation_p.G147E			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	147					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATAGTTCCTATCTGAAT	0.488000													28	21					0	0	0.001271	0	0
ZFAT	57623	broad.mit.edu	37	8	135649862	135649862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:135649862G>A	ENST00000520727.1	-	4	553	c.254C>T	c.(253-255)cCg>cTg	p.P85L	ZFAT_ENST00000429442.2_Missense_Mutation_p.P85L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P85L|ZFAT_ENST00000520214.1_Missense_Mutation_p.P85L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P97L|ZFAT_ENST00000377838.3_Missense_Mutation_p.P97L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCTCAGTCGGACTCACGAT	0.567000													21	29					0	0	0.002299	0	0
GZMM	3004	broad.mit.edu	37	19	547286	547286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:547286C>T	ENST00000264553.3	+	2	100	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	21					apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GCAGGCAGCTCCTTTGGGACC	0.662000													21	16					0	0	0.002780	0	0
CTDSP2	10106	broad.mit.edu	37	12	58221362	58221362	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:58221362G>A	ENST00000398073.2	-	3	528	c.225C>T	c.(223-225)ctC>ctT	p.L75L	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	75					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGAGACACTGGAGCAGATCCG	0.572000													7	7					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152823773	152823773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:152823773C>T	ENST00000367255.5	-	10	1484	c.883G>A	c.(883-885)Gat>Aat	p.D295N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D302N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D295N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D295N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D295N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D295N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D302N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D295N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D302N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	295					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)		CCTACATCATCCTCTTGCCCA	0.368000										HNSCC(10;0.0054)			16	25					0	0	0.000958	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43992615	43992615	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:43992615T>C	ENST00000282406.4	+	30	4470	c.4360T>C	c.(4360-4362)Ttt>Ctt	p.F1454L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1454						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAGGCAGCATTTCACCACCT	0.483000													88	217					0	0	0.003610	0	0
HOXB2	3212	broad.mit.edu	37	17	46622015	46622015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:46622015G>A	ENST00000330070.4	-	1	1426	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	87					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ggggcagcggggagtggcggc	0.697000													6	9					0	0	0.000443	0	0
CNGA1	1259	broad.mit.edu	37	4	47938653	47938653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:47938653G>A	ENST00000402813.3	-	10	2207	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	CNGA1_ENST00000358519.4_Missense_Mutation_p.P620S|CNGA1_ENST00000514170.1_Missense_Mutation_p.P620S|CNGA1_ENST00000544810.1_Missense_Mutation_p.P620S|CNGA1_ENST00000420489.2_Missense_Mutation_p.P620S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	620					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGATCTTTAGGATCACTGCCA	0.453000													21	94					0	0	0.002299	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322453	79322453	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:79322453C>T	ENST00000428286.1	-	8	4860	c.3660G>A	c.(3658-3660)caG>caA	p.Q1220Q	PRUNE2_ENST00000376718.3_Silent_p.Q1579Q			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1579					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTGGTGATTCTGTTCACTCC	0.408000													37	29					0	0	0.004878	0	0
GLI2	2736	broad.mit.edu	37	2	121748125	121748125	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:121748125C>T	ENST00000452319.1	+	14	4695	c.4635C>T	c.(4633-4635)acC>acT	p.T1545T	GLI2_ENST00000361492.4_Silent_p.T1545T|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1545					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)				CCCGCCTCACCACCCCCCGAA	0.622000													30	62					0	0	0.002836	0	0
CAV1	857	broad.mit.edu	37	7	116199329	116199329	+	Silent	SNP	G	G	A	rs142699467		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:116199329G>A	ENST00000341049.2	+	3	803	c.525G>A	c.(523-525)caG>caA	p.Q175Q	CAV1_ENST00000393467.1_Silent_p.Q144Q|CAV1_ENST00000405348.1_Silent_p.Q144Q|CAV1_ENST00000393470.1_Silent_p.Q164Q|CAV1_ENST00000393468.1_Silent_p.Q144Q	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	175					blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			TCAACTTGCAGAAAGAAATAT	0.393000													15	19					0	0	0.004990	0	0
RXRG	6258	broad.mit.edu	37	1	165398042	165398042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:165398042G>A	ENST00000359842.5	-	2	513	c.211C>T	c.(211-213)Cga>Tga	p.R71*		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	71	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R71*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGATGACTCGATATGGAGAG	0.607000													17	15					0	0	0.006122	0	0
C1orf106	55765	broad.mit.edu	37	1	200880918	200880918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:200880918C>T	ENST00000367342.4	+	9	1752	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	C1orf106_ENST00000413687.2_Missense_Mutation_p.P433S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCTATTTCCCGGCGGGGCG	0.731000													9	15					0	0	0.000443	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369428	82369428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:82369428C>T	ENST00000509081.1	-	5	667	c.446G>A	c.(445-447)aGa>aAa	p.R149K	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R108K|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.R150K			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	150	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GACATTCTTTCTGTATGTCTG	0.463000													19	54					0	0	0.001216	0	0
CRHR1	1394	broad.mit.edu	37	17	43907558	43907558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43907558C>T	ENST00000314537.5	+	6	758	c.533C>T	c.(532-534)cCc>cTc	p.P178L	CRHR1_ENST00000293493.7_Missense_Mutation_p.P3L|CRHR1_ENST00000398285.3_Missense_Mutation_p.P207L|CRHR1_ENST00000352855.5_Missense_Mutation_p.P138L|CRHR1_ENST00000577353.1_Missense_Mutation_p.P178L|CRHR1_ENST00000339069.5_Missense_Mutation_p.P77L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	207					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACCATGAGCCCCGAGGTCCAC	0.642000													7	15					0	0	0.001984	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016349	43016349	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:43016349G>A	ENST00000473592.1	-	0	2850																											GAATTCTCAGGGAAAGCTTTC	0.373000													16	20					0	0	0.004990	0	0
KRIT1	889	broad.mit.edu	37	7	91852253	91852253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:91852253G>A	ENST00000394507.1	-	14	2077	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	KRIT1_ENST00000394503.2_Missense_Mutation_p.R384C|KRIT1_ENST00000412043.2_Missense_Mutation_p.R432C|KRIT1_ENST00000340022.2_Missense_Mutation_p.R432C|KRIT1_ENST00000394505.2_Missense_Mutation_p.R432C	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	432	FERM.				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)			TCAACAGAACGATATGACCCA	0.338000													18	21					0	0	0.002299	0	0
FCGBP	8857	broad.mit.edu	37	19	40368475	40368475	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40368475G>A	ENST00000221347.6	-	28	12880	c.12873C>T	c.(12871-12873)ttC>ttT	p.F4291F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4291	VWFD 10.					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)			GGCAGGTGGTGAAGGGGCCCC	0.617000													15	75					0	0	0.000958	0	0
SORL1	6653	broad.mit.edu	37	11	121428100	121428100	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:121428100C>T	ENST00000260197.7	+	19	2778	c.2649C>T	c.(2647-2649)ctC>ctT	p.L883L		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	883					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)		CTCTGGTCCTCGTGCCCCAAG	0.493000													16	19					0	0	0.006122	0	0
NWD1	284434	broad.mit.edu	37	19	16918540	16918540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16918540C>T	ENST00000524140.2	+	18	4298	c.3880C>T	c.(3880-3882)Ccc>Tcc	p.P1294S	NWD1_ENST00000549814.1_Missense_Mutation_p.P1252S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1159S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1294S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1088S|NWD1_ENST00000552788.1_Missense_Mutation_p.P1294S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1294							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GATATGCATTCCCCCTCCCGA	0.592000													8	42					0	0	0.003080	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38775471	38775471	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:38775471C>T	ENST00000420274.1	+	2	258	c.24C>T	c.(22-24)aaC>aaT	p.N8N	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Silent_p.N8N	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	8	PH 1.				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)			ATCGGCAGAACCGAATCTGTG	0.557000													22	16					0	0	0.003954	0	0
COL5A3	50509	broad.mit.edu	37	19	10085069	10085069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10085069G>A	ENST00000264828.3	-	46	3443	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1120	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)			CGGCGCCCCTGAGCCCCGTCT	0.592000													13	5					0	0	0.004990	0	0
RFWD3	55159	broad.mit.edu	37	16	74695200	74695200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:74695200G>A	ENST00000361070.4	-	2	245	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RFWD3_ENST00000571750.1_Missense_Mutation_p.P50S	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	50					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AGGATGGATGGTACCCCCTGG	0.627000													20	74					0	0	0.001216	0	0
PCDH1	5097	broad.mit.edu	37	5	141243292	141243292	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:141243292G>A	ENST00000287008.3	-	3	2751	c.2604C>T	c.(2602-2604)atC>atT	p.I868I	PCDH1_ENST00000536585.1_Silent_p.I846I|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.I868I|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.I856I	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	868					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCGCCAGGGCGATGAGCAAGG	0.572000													40	115					0	0	0.003214	0	0
EDNRA	1909	broad.mit.edu	37	4	148453712	148453712	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:148453712A>T	ENST00000339690.5	+	3	1005	c.475A>T	c.(475-477)Aac>Tac	p.N159Y	EDNRA_ENST00000324300.5_Silent_p.V201V|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron			P25101	EDNRA_HUMAN	endothelin receptor type A	0					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TTCCTTTGGTAACTGCCATTG	0.443000													25	80					0	0	0.004656	0	0
EXD3	54932	broad.mit.edu	37	9	140242540	140242540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:140242540G>A	ENST00000340951.4	-	17	2176	c.1981C>T	c.(1981-1983)Cac>Tac	p.H661Y	EXD3_ENST00000342129.4_Missense_Mutation_p.H312Y	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	661					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCCCTGCGGTGGTCTTCACCA	0.647000													9	8					0	0	0.000978	0	0
SMCP	4184	broad.mit.edu	37	1	152857234	152857234	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152857234C>T	ENST00000368765.3	+	2	486	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	112					penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAATGAGTCCAGGCCAAGCA	0.522000													24	32					0	0	0.003330	0	0
IMMT	10989	broad.mit.edu	37	2	86385725	86385725	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:86385725C>G	ENST00000410111.3	-	10	1539	c.1152G>C	c.(1150-1152)tgG>tgC	p.W384C	IMMT_ENST00000449247.2_Missense_Mutation_p.W373C|IMMT_ENST00000442664.2_Missense_Mutation_p.W383C|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Missense_Mutation_p.W337C|IMMT_ENST00000254636.5_Missense_Mutation_p.W285C	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	384						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCATTCCTTTCCACCCAGGAA	0.403000													4	8					0	0	0.000248	0	0
ATP8B4	79895	broad.mit.edu	37	15	50399151	50399151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:50399151C>T	ENST00000284509.6	-	2	154	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E5K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	5					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATTTCTTTTCACTGCAGAAC	0.289000													23	27					0	0	0.004656	0	0
NYAP2	57624	broad.mit.edu	37	2	226447205	226447205	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:226447205C>T	ENST00000272907.6	+	4	1485	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	358	Pro-rich.																GCTTACCCCTCTGGAGGTCAC	0.657000													5	9					0	0	0.000602	0	0
NLN	57486	broad.mit.edu	37	5	65084139	65084139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:65084139C>T	ENST00000380985.5	+	8	1331	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	NLN_ENST00000502464.1_Missense_Mutation_p.P281S	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	385					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GGAATACTTCCCAATTGAGGT	0.418000													26	56					0	0	0.003954	0	0
CIT	11113	broad.mit.edu	37	12	120241103	120241103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:120241103G>A	ENST00000392521.2	-	10	1257	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	CIT_ENST00000261833.7_Missense_Mutation_p.P401L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	401	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCTGGCACGGAGAGGATGA	0.527000													47	38					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154561253	154561253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:154561253C>T	ENST00000404039.1	+	9	1405	c.818C>T	c.(817-819)cCc>cTc	p.P273L	DPP6_ENST00000332007.3_Missense_Mutation_p.P275L|DPP6_ENST00000427557.1_Missense_Mutation_p.P230L|DPP6_ENST00000377770.3_Missense_Mutation_p.P337L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	337					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCCATCTACCCCACCGTGAAG	0.547000													9	13					0	0	0.004482	0	0
NYAP2	57624	broad.mit.edu	37	2	226447216	226447216	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:226447216G>A	ENST00000272907.6	+	4	1496	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	361	Pro-rich.																TGGAGGTCACGAAGCTTCCCG	0.642000													10	5					0	0	0.000673	0	0
C2CD3	26005	broad.mit.edu	37	11	73753138	73753138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:73753138G>A	ENST00000334126.7	-	29	5847	c.5621C>T	c.(5620-5622)tCa>tTa	p.S1874L	C2CD3_ENST00000313663.7_Missense_Mutation_p.S1874L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1874						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGACAAAGGTGATGTGGTCAG	0.493000													16	66					0	0	0.003163	0	0
KIAA1429	25962	broad.mit.edu	37	8	95530059	95530059	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:95530059G>A	ENST00000297591.5	-	10	2700	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L	KIAA1429_ENST00000437199.1_Silent_p.L875L|KIAA1429_ENST00000421249.2_Silent_p.L875L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	875					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAAGCTTCAAGAGAGATGCTG	0.343000													11	11					0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76455235	76455235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:76455235C>T	ENST00000389840.5	-	61	9791	c.9667G>A	c.(9667-9669)Gcc>Acc	p.A3223T	DNAH17_ENST00000585328.1_Missense_Mutation_p.A3232T|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)			CCGGCGGCGGCCGTGGACTTG	0.652000													47	224					0	0	0.003610	0	0
WNK3	65267	broad.mit.edu	37	X	54319341	54319341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:54319341G>A	ENST00000354646.2	-	10	2455	c.2017C>T	c.(2017-2019)Cag>Tag	p.Q673*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q673*|WNK3_ENST00000375159.2_Nonsense_Mutation_p.Q673*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	673					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGACCTTCTGAACAGTTAAT	0.408000													5	15					0	0	0.001168	0	0
PTPN7	5778	broad.mit.edu	37	1	202123350	202123350	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:202123350G>A	ENST00000309017.3	-	6	1658	c.885C>T	c.(883-885)ctC>ctT	p.L295L	PTPN7_ENST00000367279.4_Silent_p.L229L|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_Silent_p.L19L|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Silent_p.L190L	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	190	Substrate binding.|Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCATGACAATGAGGGACACTT	0.582000													15	22					0	0	0.004007	0	0
BIRC6	57448	broad.mit.edu	37	2	32706501	32706501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32706501C>T	ENST00000421745.2	+	38	7656	c.7522C>T	c.(7522-7524)Ctt>Ttt	p.L2508F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2508					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)					AAAGGACCCTCTTGCAGCCAA	0.428000													23	7					0	0	0.001882	0	0
EVPL	2125	broad.mit.edu	37	17	74010615	74010615	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74010615G>A	ENST00000301607.3	-	18	2518	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	EVPL_ENST00000586740.1_Silent_p.F777F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	755	Globular 1.				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						TGCAGTTCTTGAACTGCTGGT	0.652000													14	23					0	0	0.004990	0	0
RP1	6101	broad.mit.edu	37	8	55534729	55534729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:55534729G>A	ENST00000220676.1	+	3	816	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	223	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G223V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGGCGGCAGGAAGGGAGCCA	0.478000													8	44					0	0	0.003080	0	0
CSH2	1443	broad.mit.edu	37	17	61949534	61949534	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61949534G>A	ENST00000392886.2	-	5	757	c.606C>T	c.(604-606)ttC>ttT	p.F202F	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.F145F|CSH2_ENST00000345366.7_Silent_p.F107F	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	202					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCATGCGCAGGAATGTCTCGA	0.582000													28	71					0	0	0.001271	0	0
STAG3	10734	broad.mit.edu	37	7	99802321	99802321	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:99802321G>A	ENST00000426455.1	+	27	3281	c.2874G>A	c.(2872-2874)agG>agA	p.R958R	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.R958R|STAG3_ENST00000394018.2_Silent_p.R900R|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	958					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)					TCGAGATGAGGGACCTGGCCC	0.567000													17	17					0	0	0.004007	0	0
OR56A3	390083	broad.mit.edu	37	11	5969179	5969179	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5969179T>G	ENST00000329564.6	+	1	610	c.603T>G	c.(601-603)ctT>ctG	p.L201L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAATCACCTTTACCAATTTG	0.473000													67	43					0	0	0.003610	0	0
SOX10	6663	broad.mit.edu	37	22	38369573	38369573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:38369573G>A	ENST00000396884.2	-	4	1612	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	SOX10_ENST00000360880.2_Missense_Mutation_p.P444S|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	444						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGCCCTGAGGGGCTGGGGTCA	0.672000													9	14					0	0	0.000673	0	0
POLR3B	55703	broad.mit.edu	37	12	106903233	106903233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:106903233C>T	ENST00000228347.4	+	28	3530	c.3308C>T	c.(3307-3309)tCc>tTc	p.S1103F	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.S1045F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1103					innate immune response|positive regulation of 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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CACGTGTCTTCCCTCCGTATT	0.493000													11	45					0	0	0.000978	0	0
SCAND3	114821	broad.mit.edu	37	6	28554089	28554089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:28554089C>T	ENST00000452236.2	-	1	1023	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	136					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						TGTCTAGGTTCATCAAGCTCC	0.517000													38	204					0	0	0.002522	0	0
OR8K3	219473	broad.mit.edu	37	11	56086623	56086623	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:56086623A>C	ENST00000312711.1	+	1	841	c.841A>C	c.(841-843)Atc>Ctc	p.I281L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CACCCTGGTTATCCCCATGTT	0.368000													5	29					0	0	0.001168	0	0
CD19	930	broad.mit.edu	37	16	28948809	28948809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28948809C>T	ENST00000538922.1	+	10	1399	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	CD19_ENST00000567541.1_Missense_Mutation_p.P446L|CD19_ENST00000324662.3_Missense_Mutation_p.P446L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	446					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GAGGATGAGCCCCTGGGTCCT	0.607000													28	35					0	0	0.001786	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126723	100126723	+	Silent	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:100126723T>A	ENST00000330710.5	+	5	1580	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	HHIPL1_ENST00000357223.2_Silent_p.I494I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	494					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCCTCTACATTTTTGGGGATT	0.602000													34	30					0	0	0.001951	0	0
ITLN2	142683	broad.mit.edu	37	1	160920899	160920899	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160920899C>T	ENST00000368029.3	-	4	432	c.375G>A	c.(373-375)ggG>ggA	p.G125G		NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	125	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTTGCCATCCCCCTCTGGGT	0.592000													22	15					0	0	0.002299	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433506	72433506	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:72433506T>C	ENST00000373517.3	-	1	1178	c.823A>G	c.(823-825)Aag>Gag	p.K275E	NAP1L2_ENST00000536638.1_Missense_Mutation_p.K133E	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	275					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCTGAAAGCTTAACTTTAATA	0.358000													33	0					0	0	0.002836	0	0
IVD	3712	broad.mit.edu	37	15	40703543	40703543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:40703543G>A	ENST00000249760.2	+	5	884	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	IVD_ENST00000487418.2_Missense_Mutation_p.E184K|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.E154K	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	181					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GCTCAAAGCGGAAAAGAAAGG	0.522000													56	54					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158614043	158614043	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158614043C>T	ENST00000368148.3	-	30	4518	c.4338_splice	c.e30+1	p.Q1446_splice	SPTA1_ENST00000368147.3_Splice_Site_p.Q1446_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1446					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)					TCATTATTACCTGGGCAGTGA	0.348000													24	21					0	0	0.003954	0	0
ZFPM1	161882	broad.mit.edu	37	16	88599105	88599105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:88599105G>A	ENST00000319555.3	+	8	1352	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	344					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGTGCACACGGACACGCTGAG	0.701000													5	4					0	0	0.001168	0	0
MYO5A	4644	broad.mit.edu	37	15	52664450	52664450	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:52664450G>A	ENST00000399231.3	-	21	2931	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	MYO5A_ENST00000553916.1_Silent_p.F896F|MYO5A_ENST00000399233.2_Silent_p.F896F|MYO5A_ENST00000356338.6_Silent_p.F896F|MYO5A_ENST00000358212.6_Silent_p.F896F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	896	IQ 6.				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)		TCATCCGCCTGAAGCAGCACT	0.537000													19	34					0	0	0.001882	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962035	32962035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:32962035G>A	ENST00000321639.5	+	8	1964	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	546						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGTGGGCGATCCCCGAGT	0.617000													14	13					0	0	0.001855	0	0
NCOA6	23054	broad.mit.edu	37	20	33329378	33329378	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:33329378T>C	ENST00000374796.2	-	12	7252	c.4682A>G	c.(4681-4683)cAt>cGt	p.H1561R	NCOA6_ENST00000359003.2_Missense_Mutation_p.H1561R			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1561					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						CAATTCGGGATGCACAAGGGA	0.473000													33	85					0	0	0.003271	0	0
SPTA1	6708	broad.mit.edu	37	1	158637817	158637817	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158637817C>T	ENST00000368148.3	-	15	2049	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	SPTA1_ENST00000368147.3_Silent_p.Q623Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	623					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)					CAAAGACTTGCTGCTTTTGAA	0.393000													56	79					0	0	0.003610	0	0
OR4K15	81127	broad.mit.edu	37	14	20444368	20444368	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20444368T>C	ENST00000305051.5	+	1	766	c.691T>C	c.(691-693)Tct>Cct	p.S231P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCTTTCTTTCTCTGAGTTC	0.448000													57	64					0	0	0.003610	0	0
C12orf60	144608	broad.mit.edu	37	12	14976469	14976469	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:14976469C>T	ENST00000330828.2	+	2	804	c.600C>T	c.(598-600)tcC>tcT	p.S200S	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	200										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CTGAGGATTCCAAAAATCCCA	0.408000													17	18					0	0	0.000958	0	0
MYH2	4620	broad.mit.edu	37	17	10432487	10432487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10432487C>T	ENST00000245503.5	-	26	3730	c.3346G>A	c.(3346-3348)Gaa>Aaa	p.E1116K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1116K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1116					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTTGCAATTCTTTAATTTTC	0.393000													11	67					0	0	0.002450	0	0
ZNF823	55552	broad.mit.edu	37	19	11832979	11832979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:11832979G>A	ENST00000341191.6	-	4	1523	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	ZNF823_ENST00000545749.1_Missense_Mutation_p.S275F	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATTTTGAAAGGAAGAGAGATC	0.423000										HNSCC(68;0.2)			44	54					0	0	0.001951	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414996	42414996	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:42414996G>A	ENST00000381668.5	-	37	3663	c.3432C>T	c.(3430-3432)atC>atT	p.I1144I	ATP8A1_ENST00000264449.10_Silent_p.I1129I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1144					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	p.I1144I(1)|p.I1129I(1)		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)	ACTGTGAAACGATTCCATTTT	0.438000													9	30					0	0	0.000443	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537588	54537588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:54537588G>A	ENST00000474759.1	+	5	499	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E57K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E151K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E151K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	151						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTGGGAAAGGAATTCATCTT	0.373000													51	46					0	0	0.003610	0	0
BOC	91653	broad.mit.edu	37	3	113003232	113003232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:113003232C>T	ENST00000495514.1	+	17	3408	c.2704C>T	c.(2704-2706)Ccg>Tcg	p.P902S	BOC_ENST00000355385.3_Missense_Mutation_p.P902S|BOC_ENST00000273395.4_Missense_Mutation_p.P903S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	902					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACCCTCCTGCCCGTATACTAT	0.562000													41	40					0	0	0.003610	0	0
AKNA	80709	broad.mit.edu	37	9	117121948	117121948	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:117121948C>T	ENST00000307564.4	-	11	2579	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	AKNA_ENST00000374075.5_Silent_p.G725G|AKNA_ENST00000374088.3_Silent_p.G806G|AKNA_ENST00000223791.3_Silent_p.G266G|AKNA_ENST00000312033.3_Silent_p.G806G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCTCTGCTTTCCCTGGAGTTG	0.597000													17	32					0	0	0.004990	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141656	133141656	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:133141656C>T	ENST00000388996.4	-	15	2892	c.2472G>A	c.(2470-2472)tcG>tcA	p.S824S	KCNQ3_ENST00000519445.1_Silent_p.S812S|KCNQ3_ENST00000521134.1_Silent_p.S704S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	824					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCATCCAGCTCGACCCCCCAT	0.622000													6	12					0	0	0.001984	0	0
NUP210	23225	broad.mit.edu	37	3	13368907	13368907	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:13368907G>A	ENST00000254508.5	-	32	4399	c.4317C>T	c.(4315-4317)ccC>ccT	p.P1439P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1439					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGTTGTTGGTGGGGCCCTTCC	0.607000													8	8					0	0	0.000443	0	0
OR52R1	119695	broad.mit.edu	37	11	4825340	4825340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4825340G>A	ENST00000380382.1	-	1	507	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.H91Y			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGAGCATGAAACCAGAAT	0.527000													18	33					0	0	0.006122	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739670	46739670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:46739670C>T	ENST00000306448.4	-	2	1294	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E61K	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	61					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ATCTGCTTCTCCTTTTTCTCA	0.458000													26	67					0	0	0.003330	0	0
TRRAP	8295	broad.mit.edu	37	7	98606073	98606073	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:98606073G>A	ENST00000359863.4	+	69	10994	c.10785G>A	c.(10783-10785)gaG>gaA	p.E3595E	TRRAP_ENST00000446306.3_Silent_p.E3584E|TRRAP_ENST00000355540.3_Silent_p.E3566E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3595	PI3K/PI4K.				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)			CCCTTGTGGAGATCTACAAGC	0.612000													35	51					0	0	0.003755	0	0
OR56A1	120796	broad.mit.edu	37	11	6048031	6048031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:6048031G>A	ENST00000316650.5	-	1	940	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGGTCCGAACCCCATAC	0.448000													30	34					0	0	0.001786	0	0
HECW2	57520	broad.mit.edu	37	2	197185126	197185126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:197185126G>A	ENST00000260983.2	-	8	1104	c.922C>T	c.(922-924)Cca>Tca	p.P308S	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	308					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						TGGTCAGCTGGGAGCCTTCTG	0.453000													11	5					0	0	0.001368	0	0
FOXK1	221937	broad.mit.edu	37	7	4794116	4794116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:4794116C>T	ENST00000328914.4	+	3	773	c.773C>T	c.(772-774)cCa>cTa	p.P258L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P95L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	258					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCAGTCCACGCGGTGCC	0.627000													12	18					0	0	0.001855	0	0
TMCC3	57458	broad.mit.edu	37	12	94976051	94976051	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:94976051G>A	ENST00000261226.4	-	2	473	c.342C>T	c.(340-342)gtC>gtT	p.V114V	TMCC3_ENST00000551457.1_Silent_p.V83V	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	114						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCTTCTCAAAGACTTGCTTGA	0.468000													28	30					0	0	0.004656	0	0
KLHL5	51088	broad.mit.edu	37	4	39104936	39104936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:39104936C>T	ENST00000261425.3	+	8	1482	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	KLHL5_ENST00000381930.3_Missense_Mutation_p.R490C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R429C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R490C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R303C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R490C	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	490						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTATGATCTCCGTACAAATAT	0.358000													4	17					0	0	0.000248	0	0
CMYA5	202333	broad.mit.edu	37	5	79034203	79034203	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:79034203G>A	ENST00000446378.2	+	2	9646	c.9615G>A	c.(9613-9615)aaG>aaA	p.K3205K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3205						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGAAAAAGAAGGAAGAGG	0.403000													8	18					0	0	0.003080	0	0
ZNF331	55422	broad.mit.edu	37	19	54081122	54081122	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54081122G>A	ENST00000253144.9	+	7	2641	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	ZNF331_ENST00000513999.1_Silent_p.A436A|ZNF331_ENST00000511593.2_Silent_p.A436A|ZNF331_ENST00000512387.1_Silent_p.A436A|ZNF331_ENST00000449416.1_Silent_p.A436A|ZNF331_ENST00000511154.1_Silent_p.A436A|ZNF331_ENST00000411977.2_Silent_p.A436A	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACAGTGGGGCGAAATCCTACG	0.488000			T	?	follicular thyroid adenoma								10	23					0	0	0.000443	0	0
VPS25	84313	broad.mit.edu	37	17	40928268	40928268	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:40928268C>T	ENST00000253794.2	+	5	388	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	116					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CACAGGTTTCCAGGAGTGGCC	0.458000													12	49					0	0	0.001368	0	0
STAG3	10734	broad.mit.edu	37	7	99802320	99802320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:99802320G>A	ENST00000426455.1	+	27	3280	c.2873G>A	c.(2872-2874)aGg>aAg	p.R958K	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.R958K|STAG3_ENST00000394018.2_Missense_Mutation_p.R900K|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	958					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)					ATCGAGATGAGGGACCTGGCC	0.567000													17	16					0	0	0.004007	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752424	19752424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:19752424C>T	ENST00000400113.3	-	3	441	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	113					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCGACGATCTCCTTGCCGATG	0.532000													52	70					0	0	0.003610	0	0
PPFIA3	8541	broad.mit.edu	37	19	49632189	49632189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49632189C>T	ENST00000334186.4	+	4	776	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S	PPFIA3_ENST00000602351.1_Missense_Mutation_p.P143S	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	143						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCCAGTCCCCGGGTGGGGT	0.587000													7	26					0	0	0.003080	0	0
ITIH5	80760	broad.mit.edu	37	10	7621809	7621809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:7621809C>T	ENST00000256861.6	-	9	1405	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	ITIH5_ENST00000397146.2_Missense_Mutation_p.D443N|ITIH5_ENST00000397145.2_Missense_Mutation_p.D443N|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.D229N|ITIH5_ENST00000446830.2_Missense_Mutation_p.D225N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	443	VWFA.				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						AGCCTGAAGTCCACGTCGTTG	0.627000													13	39					0	0	0.001368	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101771207	101771207	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:101771207G>A	ENST00000334289.3	-	7	1210	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	205	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACAACCTCTGGAAATCAATTA	0.348000													18	51					0	0	0.002299	0	0
RBM10	8241	broad.mit.edu	37	X	47045479	47045479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:47045479G>A	ENST00000377604.3	+	22	3188	c.2446G>A	c.(2446-2448)Gac>Aac	p.D816N	RBM10_ENST00000329236.7_Missense_Mutation_p.D738N|RBM10_ENST00000345781.6_Missense_Mutation_p.D739N|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	816					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAAGTACCGGGACCGTGCAGC	0.557000													9	0					0	0	0.000443	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365776	7365776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7365776G>A	ENST00000311403.4	-	4	2864	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S842F	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCGGTCTCGGAAGCTTCCTC	0.612000													13	9					0	0	0.001855	0	0
FSIP2	401024	broad.mit.edu	37	2	186672249	186672249	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:186672249C>T	ENST00000343098.5	+	17	18483	c.18483C>T	c.(18481-18483)acC>acT	p.T6161T	FSIP2_ENST00000424728.1_Silent_p.T6072T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGTAGAAACCTTACAATCTG	0.323000													33	95					0	0	0.004289	0	0
SVEP1	79987	broad.mit.edu	37	9	113228143	113228143	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:113228143A>G	ENST00000401783.2	-	18	3659		c.e18+1		SVEP1_ENST00000302728.8_Splice_Site|SVEP1_ENST00000467821.1_Splice_Site|SVEP1_ENST00000374469.1_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCTTTGATAACCTCCACATG	0.418000													9	17					0	0	0.004482	0	0
UBTD2	92181	broad.mit.edu	37	5	171638904	171638904	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:171638904A>T	ENST00000393792.2	-	3	1040	c.635T>A	c.(634-636)aTc>aAc	p.I212N		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	212	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCTTTGGGATCTTCAGCTC	0.512000													19	33					0	0	0.006122	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184054	26184054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26184054C>T	ENST00000356530.3	+	1	97	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CGCTCCCGCCCCGAAGAAGGG	0.527000													21	67					0	0	0.001216	0	0
CARD8	22900	broad.mit.edu	37	19	48733884	48733884	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:48733884G>A	ENST00000391898.3	-	7	888	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CARD8_ENST00000357778.5_Silent_p.A7A|CARD8_ENST00000447740.2_Silent_p.A232A|CARD8_ENST00000519940.1_Silent_p.A282A|CARD8_ENST00000520753.1_Silent_p.A282A|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Silent_p.A232A|CARD8_ENST00000359009.4_Silent_p.A176A|CARD8_ENST00000521613.1_Silent_p.A232A|CARD8_ENST00000520015.1_Silent_p.A282A	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	176					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GCTCCACCCGGGCTGGATGCT	0.577000													68	22					0	0	0.003610	0	0
ATF6B	1388	broad.mit.edu	37	6	32083638	32083638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32083638G>A	ENST00000375201.4	-	18	2026	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	ATF6B_ENST00000375203.3_Missense_Mutation_p.P664S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	664					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CGGAGCGAGGGGGGCACTGTG	0.642000													42	325					0	0	0.003610	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355126	33355126	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:33355126G>A	ENST00000023064.4	-	4	545	c.354C>T	c.(352-354)atC>atT	p.I118I	SLC7A9_ENST00000590341.1_Silent_p.I118I|SLC7A9_ENST00000587772.1_Silent_p.I118I	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	118					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)	GCTTAATGACGATCAGGCTGG	0.572000													8	32					0	0	0.004482	0	0
ARMC3	219681	broad.mit.edu	37	10	23250858	23250858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:23250858C>T	ENST00000298032.5	+	7	667	c.583C>T	c.(583-585)Cct>Tct	p.P195S	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.P195S|ARMC3_ENST00000409049.3_Missense_Mutation_p.P195S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	195							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAATACCTCCTATCTTAGA	0.353000													15	28					0	0	0.003163	0	0
ROS1	6098	broad.mit.edu	37	6	117686268	117686268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117686268C>T	ENST00000368508.3	-	20	3271	c.3073G>A	c.(3073-3075)Gga>Aga	p.G1025R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1020R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1025	Fibronectin type-III 4.				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)		GGGCCCTTTCCCCAGTAGGTA	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								22	32					0	0	0.002299	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351666	128351666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:128351666G>A	ENST00000262462.4	+	5	2068	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G353E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G353E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	353					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACAGATTTGGAAATATAAAG	0.378000													19	46					0	0	0.001523	0	0
SPATA16	83893	broad.mit.edu	37	3	172642058	172642058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:172642058C>T	ENST00000351008.3	-	8	1461	c.1278G>A	c.(1276-1278)atG>atA	p.M426I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	426					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CCATTGTCTCCATTTGCCTCA	0.338000													21	46					0	0	0.003954	0	0
IQCH	64799	broad.mit.edu	37	15	67649700	67649700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:67649700C>T	ENST00000335894.4	+	7	721	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	IQCH_ENST00000358767.3_Missense_Mutation_p.R46W|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	219										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CACTATACCTCGGGAACCACC	0.398000													21	21					0	0	0.002299	0	0
PTPRK	5796	broad.mit.edu	37	6	128403649	128403649	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:128403649G>A	ENST00000368227.3	-	10	2076	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	PTPRK_ENST00000524481.1_5'UTR|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Silent_p.F570F|PTPRK_ENST00000368226.4_Silent_p.F570F|PTPRK_ENST00000368215.3_Silent_p.F570F|PTPRK_ENST00000368210.3_Silent_p.F570F|PTPRK_ENST00000368207.3_Silent_p.F570F|PTPRK_ENST00000368213.5_Silent_p.F570F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	570	Fibronectin type-III 3.				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)		TGGCTCTTATGAAAAACTGGT	0.448000													39	45					0	0	0.001951	0	0
CHST2	9435	broad.mit.edu	37	3	142840860	142840860	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:142840860G>T	ENST00000309575.3	+	2	2586	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	401					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ATCTGCAATAGTATGGCTAAG	0.652000													20	27					2.70639e-06	4.65866e-06	0.002299	1	0
ADAD2	161931	broad.mit.edu	37	16	84224962	84224962	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84224962C>T	ENST00000268624.3	+	1	219	c.126C>T	c.(124-126)gcC>gcT	p.A42A	ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Silent_p.A42A	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	42					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCAAAGTGCCTgggggcccg	0.751000													3	5					0	0	0.000248	0	0
CLTC	1213	broad.mit.edu	37	17	57758365	57758365	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:57758365C>T	ENST00000269122.3	+	19	3286	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	CLTC_ENST00000393043.1_Silent_p.L1004L|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1004	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTAATGAACTCATTGAACTGC	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """								45	81					0	0	0.003214	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342499	40342499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:40342499C>T	ENST00000406785.1	-	8	2897	c.2708G>A	c.(2707-2709)gGg>gAg	p.G903E	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G934E|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G939E|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G903E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G903E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G934E|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G903E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G903E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G939E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G931E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	939					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTCCGGGGCCCACCCAGCTC	0.537000													25	9					0	0	0.001271	0	0
MUC17	140453	broad.mit.edu	37	7	100684576	100684576	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100684576G>A	ENST00000306151.4	+	3	9943	c.9879G>A	c.(9877-9879)gtG>gtA	p.V3293V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3293	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)					CCACAACGGTGGCCAGTTCTG	0.512000													167	191					0	0	0.003610	0	0
ASAP3	55616	broad.mit.edu	37	1	23758271	23758271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23758271G>A	ENST00000336689.3	-	23	2508	c.2464C>T	c.(2464-2466)Ctc>Ttc	p.L822F	ASAP3_ENST00000495646.1_Missense_Mutation_p.L326F|ASAP3_ENST00000484906.1_Intron|ASAP3_ENST00000437606.2_Missense_Mutation_p.L813F	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	822					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGCTCTCGGAGGCCCTCTTCA	0.652000													14	31					0	0	0.003163	0	0
BPHL	670	broad.mit.edu	37	6	3137651	3137651	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:3137651C>T	ENST00000380368.2	+	6	1181	c.537C>T	c.(535-537)ctC>ctT	p.L179L	BPHL_ENST00000380379.5_Silent_p.L196L|BPHL_ENST00000434640.1_Silent_p.L179L|BPHL_ENST00000380375.3_Silent_p.L179L			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	196					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TAGAAGCCCTCTATGGGTATG	0.438000													46	79					0	0	0.002522	0	0
MICAL3	57553	broad.mit.edu	37	22	18300783	18300783	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:18300783G>A	ENST00000441493.2	-	26	4996	c.4644C>T	c.(4642-4644)tcC>tcT	p.S1548S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1548						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)		GCGGCCAGCAGGACGGGGGCG	0.637000													6	11					0	0	0.001984	0	0
ELTD1	64123	broad.mit.edu	37	1	79392653	79392653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:79392653G>A	ENST00000370742.3	-	8	1064	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	334					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGAAATTACTGAAGATATGAC	0.323000													18	32					0	0	0.004990	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71377056	71377056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:71377056C>T	ENST00000244230.2	+	11	2309	c.1957C>T	c.(1957-1959)Caa>Taa	p.Q653*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	653					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATTACAAGATCAAGTAAAAAT	0.294000													19	38					0	0	0.006122	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903927	38903927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:38903927G>A	ENST00000454404.2	-	11	1433	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	RASGRP4_ENST00000586305.1_Missense_Mutation_p.P427L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.P372L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P349L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P441L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.P252L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.P344L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	441	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)			TGCATTGAAGGGGGAGGGTGG	0.642000													8	14					0	0	0.003080	0	0
MMRN1	22915	broad.mit.edu	37	4	90857467	90857467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:90857467C>T	ENST00000394980.1	+	7	2955	c.2636C>T	c.(2635-2637)tCa>tTa	p.S879L	MMRN1_ENST00000508372.1_Missense_Mutation_p.S621L|MMRN1_ENST00000264790.2_Missense_Mutation_p.S879L|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	879					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTATATTTCAGTTAAAAAA	0.353000													15	22					0	0	0.004990	0	0
WNT9B	7484	broad.mit.edu	37	17	44950042	44950042	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:44950042G>A	ENST00000393461.2	+	2	290	c.237G>A	c.(235-237)agG>agA	p.R79R	WNT9B_ENST00000290015.2_Silent_p.R79R			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	79					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGACCCTGAGGGATGCTGCGC	0.662000													17	14					0	0	0.004990	0	0
EMX2	2018	broad.mit.edu	37	10	119307636	119307636	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:119307636G>C	ENST00000553456.3	+	3	1476	c.652G>C	c.(652-654)Ggc>Cgc	p.G218R	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Missense_Mutation_p.R156T	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	218						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GGAGGAAGAAGGCTCAGATTC	0.493000													3	14					0	0	0.004672	0	0
WFDC2	10406	broad.mit.edu	37	20	44108284	44108284	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:44108284C>T	ENST00000217425.5	+	3	252	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000342873.3_5'UTR|WFDC2_ENST00000488143.1_3'UTR			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				gtaattagcactgttccactg	0.438000													36	26					0	0	0.003755	0	0
WWP2	11060	broad.mit.edu	37	16	69965070	69965070	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:69965070C>T	ENST00000359154.2	+	14	1562	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	WWP2_ENST00000356003.2_Silent_p.S487S|WWP2_ENST00000542271.1_Silent_p.S371S|WWP2_ENST00000448661.1_Silent_p.S487S|WWP2_ENST00000568684.1_Silent_p.S48S|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	487					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						AGCAAGGTTCCCCTGGTGCTT	0.498000													44	59					0	0	0.003610	0	0
ECSIT	51295	broad.mit.edu	37	19	11624692	11624692	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:11624692G>A	ENST00000270517.7	-	3	576	c.441C>T	c.(439-441)atC>atT	p.I147I	ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Silent_p.I147I|ECSIT_ENST00000592312.1_Silent_p.I31I|ECSIT_ENST00000591104.1_Silent_p.I147I	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	147					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGATGCGCTGGATGATGTTGC	0.612000													4	22					0	0	0.000248	0	0
MEIS2	4212	broad.mit.edu	37	15	37187014	37187014	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:37187014C>T	ENST00000444725.1	-	12	2163		c.e12-1		MEIS2_ENST00000559408.1_Splice_Site|MEIS2_ENST00000561208.1_Intron|MEIS2_ENST00000559561.1_Splice_Site|MEIS2_ENST00000559085.1_Splice_Site|MEIS2_ENST00000557796.2_Splice_Site|MEIS2_ENST00000424352.2_Splice_Site|MEIS2_ENST00000397624.3_Splice_Site|MEIS2_ENST00000397620.2_Splice_Site|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000219869.9_Splice_Site|MEIS2_ENST00000340545.5_Splice_Site	NM_170674.4|NM_170677.4	NP_733774.1|NP_733777.1	O14770	MEIS2_HUMAN	Meis homeobox 2						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTCATAGGTCCTAGAAAGGAG	0.413000													82	82					0	0	0.003610	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047722	42047722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:42047722G>A	ENST00000372584.1	-	3	3761	c.2747C>T	c.(2746-2748)tCa>tTa	p.S916L	HIVEP3_ENST00000372583.1_Missense_Mutation_p.S916L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S916L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S916L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	916	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCCCTGATGATTGGGCCAT	0.597000													41	26					0	0	0.001951	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	C	T	rs145165680		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:151598433C>T	ENST00000362032.4	+	3	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000													40	126					0	0	0.002222	0	0
TRIP11	9321	broad.mit.edu	37	14	92473984	92473984	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:92473984C>G	ENST00000267622.4	-	10	1900	c.1527_splice	c.e10+1	p.K509_splice		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	509					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)		ACAGTGTTACCTTTGTAGCTT	0.343000			T	PDGFRB	AML								34	44					0	0	0.002445	0	0
GRM6	2916	broad.mit.edu	37	5	178419001	178419001	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:178419001G>A	ENST00000231188.5	-	2	766	c.588C>T	c.(586-588)ccC>ccT	p.P196P	GRM6_ENST00000517717.1_Silent_p.P196P	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	196					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGTAGGAGTCGGGTGGCACCA	0.622000													6	13					0	0	0.001168	0	0
SELE	6401	broad.mit.edu	37	1	169697210	169697210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:169697210G>A	ENST00000333360.7	-	8	1407	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	SELE_ENST00000367782.4_Missense_Mutation_p.P423L|SELE_ENST00000367776.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.P423L|SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Intron|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	423	Sushi 4.				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)					TTCACATGTGGGCTTCTCGTT	0.448000													54	72					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882320	228882320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:228882320C>T	ENST00000392056.3	-	7	3296	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1084K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1084						cytoplasm	protein binding			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)		GGAATGCTTTCGCAGCTGGAG	0.622000													29	10					0	0	0.001271	0	0
NR1I2	8856	broad.mit.edu	37	3	119533863	119533863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119533863G>A	ENST00000393716.2	+	6	2671	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	NR1I2_ENST00000337940.4_Missense_Mutation_p.G317R|NR1I2_ENST00000466380.1_Missense_Mutation_p.G241R	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	278	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCTGCTGAAGGGGGCCGCTTT	0.612000													15	23					0	0	0.003163	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118385532	118385532	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:118385532C>T	ENST00000537242.1	+	0	306				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTTCATCATCCATGGCTTCTT	0.507000													5	17					0	0	0.000602	0	0
KPRP	448834	broad.mit.edu	37	1	152733095	152733095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152733095C>T	ENST00000368773.1	+	2	1089	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	KPRP_ENST00000606109.1_Missense_Mutation_p.P344L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	344	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGGTGTCCTGTTGAGATT	0.657000													18	13					0	0	0.000958	0	0
THSD7B	80731	broad.mit.edu	37	2	137928389	137928389	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137928389T>C	ENST00000409968.1	+	7	1782	c.1604T>C	c.(1603-1605)gTt>gCt	p.V535A	THSD7B_ENST00000272643.3_Missense_Mutation_p.V535A|THSD7B_ENST00000413152.2_Missense_Mutation_p.V504A|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGAGTCTGTTCCTTGTGAG	0.498000													25	18					0	0	0.003330	0	0
CD93	22918	broad.mit.edu	37	20	23065309	23065309	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:23065309C>T	ENST00000246006.4	-	1	1668	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	507					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)					TGGGGGTGCCCTCGGGGCCCC	0.642000													22	22					0	0	0.001271	0	0
SCUBE1	80274	broad.mit.edu	37	22	43654224	43654224	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:43654224C>T	ENST00000360835.3	-	6	854		c.e6+1		SCUBE1_ENST00000290460.7_Splice_Site	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCCTACTTACCGATGCACGT	0.677000													13	25					0	0	0.003163	0	0
MYH1	4619	broad.mit.edu	37	17	10415480	10415480	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10415480G>A	ENST00000226207.5	-	13	1271	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	393	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGAGTTCAGATTTTGGAGA	0.468000													32	115					0	0	0.002445	0	0
DNMBP	23268	broad.mit.edu	37	10	101715238	101715238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:101715238G>A	ENST00000342239.3	-	4	2084	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	DNMBP_ENST00000324109.4_Nonsense_Mutation_p.R665*|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	665					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)		GGACGGTGTCGAGATAGGAGC	0.592000													6	12					0	0	0.001168	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407957	75407957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:75407957C>T	ENST00000394810.2	-	4	1602	c.1453G>A	c.(1453-1455)Gtt>Att	p.V485I	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.V261I|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.V485I	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	485	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGAAAATAACCGAGGTGGTA	0.657000													5	9					0	0	0.001168	0	0
OR52D1	390066	broad.mit.edu	37	11	5510570	5510570	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5510570C>A	ENST00000322641.5	+	1	656	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATGGGACTGGATTCCAT	0.493000													68	78					2.17656e-39	3.79105e-39	0.003610	1	0
TARS2	80222	broad.mit.edu	37	1	150471388	150471388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:150471388C>T	ENST00000369064.3	+	12	1451	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*	TARS2_ENST00000606933.1_Nonsense_Mutation_p.Q391*|TARS2_ENST00000369054.2_Nonsense_Mutation_p.Q343*|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	473					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGCAGAGATCCAAAGCTGTCT	0.557000													31	46					0	0	0.002836	0	0
PCDH19	57526	broad.mit.edu	37	X	99657660	99657660	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:99657660G>A	ENST00000373034.4	-	3	4153	c.2478C>T	c.(2476-2478)cgC>cgT	p.R826R	PCDH19_ENST00000420881.2_Silent_p.R779R|PCDH19_ENST00000255531.7_Silent_p.R779R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	826					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						TCTCAGAGCGGCGGCAGCCCA	0.552000													14	0					0	0	0.001855	0	0
APIP	51074	broad.mit.edu	37	11	34909908	34909908	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:34909908C>T	ENST00000395787.3	-	5	607	c.393G>A	c.(391-393)cgG>cgA	p.R131R	APIP_ENST00000278359.5_Silent_p.R148R|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	131					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TTTTAAACTCCCGTCCTGGAA	0.388000													39	44					0	0	0.003610	0	0
KRT9	3857	broad.mit.edu	37	17	39726464	39726464	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39726464G>A	ENST00000246662.4	-	2	716	c.651C>T	c.(649-651)gaC>gaT	p.D217D	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	217	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCACTGTCAGGTCCACAATCT	0.502000													87	77					0	0	0.003610	0	0
CEP290	80184	broad.mit.edu	37	12	88487599	88487599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:88487599G>A	ENST00000552810.1	-	28	3600	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	CEP290_ENST00000309041.7_Missense_Mutation_p.S1088L|CEP290_ENST00000397838.3_Missense_Mutation_p.S146L|CEP290_ENST00000547691.2_Missense_Mutation_p.S146L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1086					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTGCTTTAACGAAGTCCGTAA	0.303000													17	14					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179436312	179436312	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179436312C>T	ENST00000589042.1	-	326	74771	c.74547G>A	c.(74545-74547)cgG>cgA	p.R24849R	TTN_ENST00000342175.6_Silent_p.R15976R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.R23208R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.R15784R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R15909R|TTN_ENST00000342992.6_Silent_p.R22281R|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23208	Fibronectin type-III 81.						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)			TGGAAGTGTCCCGTTTCTCAA	0.408000													10	11					0	0	0.001368	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792699	65792699	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:65792699C>T	ENST00000312106.5	-	1	1289	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	384					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						TGGAGATATCCTGGGTATGGA	0.537000													13	24					0	0	0.001855	0	0
MATN4	8785	broad.mit.edu	37	20	43926853	43926853	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:43926853G>A	ENST00000537548.1	-	8	1627	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	MATN4_ENST00000372754.1_Silent_p.S502S|MATN4_ENST00000372753.1_Silent_p.S312S|MATN4_ENST00000360607.5_Silent_p.S420S|MATN4_ENST00000372751.4_Silent_p.S312S|MATN4_ENST00000372756.1_Silent_p.S461S|MATN4_ENST00000342716.4_Silent_p.S461S|MATN4_ENST00000353917.5_Silent_p.S379S			O95460	MATN4_HUMAN	matrilin 4	502	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGTCATCCTGGGAGCGGCCAT	0.667000													27	36					0	0	0.002445	0	0
CUBN	8029	broad.mit.edu	37	10	16916440	16916440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:16916440C>T	ENST00000377833.4	-	58	9234	c.9169G>A	c.(9169-9171)Gac>Aac	p.D3057N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3057	CUB 23.				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)	TTTGGGTAGTCTGCGTATGAA	0.423000													17	50					0	0	0.004990	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725567	3725567	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3725567C>T	ENST00000254963.2	+	5	430	c.285C>T	c.(283-285)gaC>gaT	p.D95D	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	95							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AGGGCGGAGACCCGGGCGTGG	0.627000													13	28					0	0	0.001855	0	0
POLH	5429	broad.mit.edu	37	6	43578327	43578327	+	Missense_Mutation	SNP	C	C	T	rs147564503		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43578327C>T	ENST00000372236.4	+	10	1406	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	POLH_ENST00000372226.1_Missense_Mutation_p.R371C|POLH_ENST00000535400.1_Missense_Mutation_p.R309C	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	371					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)			TGTGAGCATTCGTGTACAAGG	0.502000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				6	36					0	0	0.001984	0	0
UNC5B	219699	broad.mit.edu	37	10	73056460	73056460	+	Silent	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:73056460G>C	ENST00000335350.6	+	15	2867	c.2451G>C	c.(2449-2451)ggG>ggC	p.G817G	UNC5B_ENST00000373192.4_Silent_p.G806G	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	817					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AAGTGGAAGGGGAGGGCCAGA	0.612000													12	35					0	0	0.001855	0	0
CHCHD1	118487	broad.mit.edu	37	10	75541845	75541845	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:75541845C>T	ENST00000372837.3	+	1	41	c.12C>T	c.(10-12)ccC>ccT	p.P4P	CHCHD1_ENST00000372833.5_Silent_p.P4P			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	4						nucleus				breast(1)	1	Prostate(51;0.0112)					TGGCGACACCCAGCCTGCGGG	0.677000													11	27					0	0	0.001368	0	0
HSPG2	3339	broad.mit.edu	37	1	22203098	22203098	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:22203098G>A	ENST00000374695.3	-	22	2812	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	911	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TACTCAGGTGGAAAGAGCCGT	0.592000													6	14					0	0	0.001984	0	0
NAA11	84779	broad.mit.edu	37	4	80246932	80246932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:80246932G>A	ENST00000286794.4	-	1	272	c.100C>T	c.(100-102)Cat>Tat	p.H34Y		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	34	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						GAAAGGCCATGATATAAATAG	0.478000													10	48					0	0	0.000673	0	0
TOP1	7150	broad.mit.edu	37	20	39708772	39708772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:39708772C>T	ENST00000361337.2	+	6	633	c.383C>T	c.(382-384)cCt>cTt	p.P128L		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	128	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TATTTTGTTCCTCCTAAAGAG	0.338000			T	NUP98	AML*								10	52					0	0	0.001855	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:22382676C>T	ENST00000328795.4	+	1	295	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000													12	101					0	0	0.004656	0	0
C19orf57	79173	broad.mit.edu	37	19	14006359	14006359	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:14006359C>A	ENST00000454313.1	-	3	90	c.31_splice	c.e3-1	p.G11_splice	C19orf57_ENST00000346736.2_Splice_Site_p.G11_splice|C19orf57_ENST00000591586.1_Splice_Site_p.G11_splice|C19orf57_ENST00000586783.1_Splice_Site_p.G11_splice			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	11					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGTCCCTCTCCTGTTTTAGA	0.547000													18	57					1.50039e-11	2.59509e-11	0.001882	1	0
TRPC4	7223	broad.mit.edu	37	13	38211283	38211283	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:38211283C>T	ENST00000379705.3	-	11	3548	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	TRPC4_ENST00000379681.3_Silent_p.L902L|TRPC4_ENST00000355779.2_Silent_p.L756L|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Silent_p.L724L|TRPC4_ENST00000379673.2_Silent_p.L748L|TRPC4_ENST00000447043.1_Silent_p.L756L|TRPC4_ENST00000379679.1_Silent_p.L724L|TRPC4_ENST00000358477.2_Silent_p.L813L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	897	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CGGGAATGCTCAGGTCACCCC	0.468000													25	28					0	0	0.005443	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709918	70709918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:70709918C>T	ENST00000226444.3	-	7	845	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCATAATTTCGTCTGGCAGT	0.428000													56	69					0	0	0.003610	0	0
VPS33A	65082	broad.mit.edu	37	12	122735567	122735567	+	Missense_Mutation	SNP	G	G	A	rs150571876		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:122735567G>A	ENST00000267199.4	-	5	675	c.563C>T	c.(562-564)aCg>aTg	p.T188M	RP11-512M8.5_ENST00000535844.1_Intron	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	188					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CTGGGGGATCGTTCCATACAG	0.572000													16	23					0	0	0.004007	0	0
SLIT2	9353	broad.mit.edu	37	4	20591308	20591308	+	Silent	SNP	C	C	T	rs145314495	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:20591308C>T	ENST00000504154.1	+	30	3382	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SLIT2_ENST00000503823.1_Silent_p.L1036L|SLIT2_ENST00000273739.5_Silent_p.L1057L|SLIT2_ENST00000503837.1_Silent_p.L1040L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1044	EGF-like 4.				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						TGCCCAGGACCTGAACCCCTG	0.502000													21	28					0	0	0.003954	0	0
VIT	5212	broad.mit.edu	37	2	37041342	37041342	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:37041342G>A	ENST00000379242.3	+	16	2222	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	VIT_ENST00000497382.1_Silent_p.A294A|VIT_ENST00000404084.1_Silent_p.A577A|VIT_ENST00000379241.3_Silent_p.A603A|VIT_ENST00000389975.3_Silent_p.A625A|VIT_ENST00000401530.1_Silent_p.A604A	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	625	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCACCTATGCGATAGGCGTTG	0.522000													6	19					0	0	0.001984	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879493	3879493	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:3879493C>T	ENST00000315677.3	-	4	1171	c.576G>A	c.(574-576)aaG>aaA	p.K192K	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.K192K|DLGAP1_ENST00000584874.1_Silent_p.K192K|DLGAP1_ENST00000581527.1_Silent_p.K192K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	192					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGGCCGGGCCTTGGGCTCCG	0.697000													42	17					0	0	0.003214	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29487477	29487477	+	Silent	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:29487477A>T	ENST00000283351.4	-	9	1670	c.1335T>A	c.(1333-1335)acT>acA	p.T445T	TRAPPC8_ENST00000582513.1_Silent_p.T445T|TRAPPC8_ENST00000582539.1_Silent_p.T391T	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	445					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTCTTTGCAGTATGATAGC	0.378000													10	31					0	0	0.000673	0	0
CPNE1	8904	broad.mit.edu	37	20	34220719	34220719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:34220719C>T	ENST00000317619.3	-	4	521	c.127G>A	c.(127-129)Gag>Aag	p.E43K	CPNE1_ENST00000397446.1_Missense_Mutation_p.E43K|CPNE1_ENST00000397445.1_Missense_Mutation_p.E43K|CPNE1_ENST00000317677.5_Missense_Mutation_p.E48K|CPNE1_ENST00000397442.1_Missense_Mutation_p.E43K|CPNE1_ENST00000397443.1_Missense_Mutation_p.E43K|CPNE1_ENST00000352393.4_Missense_Mutation_p.E43K			Q99829	CPNE1_HUMAN	copine I	43	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CGCCTCACCTCAGCCCAGCTG	0.557000													12	54					0	0	0.001368	0	0
SLC7A2	6542	broad.mit.edu	37	8	17415852	17415852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17415852C>T	ENST00000470360.1	+	10	1478	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	SLC7A2_ENST00000398090.3_Missense_Mutation_p.S454F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S455F|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S415F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S415F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	415					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACATGATGTCCATTGGCACA	0.527000													25	48					0	0	0.003954	0	0
HPX	3263	broad.mit.edu	37	11	6461946	6461946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:6461946C>T	ENST00000265983.3	-	2	198	c.98G>A	c.(97-99)gGg>gAg	p.G33E	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	33	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGCAACATTCCCATGGGCACT	0.507000													24	39					0	0	0.001061	0	0
CD69	969	broad.mit.edu	37	12	9906184	9906184	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:9906184A>G	ENST00000228434.3	-	5	573	c.491_splice	c.e5-1	p.F165_splice		NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	165	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						GTAACGTTGAACCTGTCAAAC	0.353000													14	10					0	0	0.003163	0	0
SWAP70	23075	broad.mit.edu	37	11	9746214	9746214	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:9746214C>T	ENST00000318950.6	+	4	527	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SWAP70_ENST00000447399.2_Silent_p.L84L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	142						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GATTGAATACCTGCTTAAGAA	0.299000													9	19					0	0	0.000443	0	0
FETUB	26998	broad.mit.edu	37	3	186370277	186370277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:186370277G>A	ENST00000265029.3	+	7	1107	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.G271R|FETUB_ENST00000450521.1_Missense_Mutation_p.G336R|FETUB_ENST00000382136.3_Missense_Mutation_p.G299R|FETUB_ENST00000539949.1_Missense_Mutation_p.G188R|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAATCCCCAGGGAGAAACCCT	0.517000													46	47					0	0	0.003610	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539563	48539563	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:48539563C>T	ENST00000396577.3	+	13	1805	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	SLC12A1_ENST00000380993.3_Silent_p.A530A|SLC12A1_ENST00000558405.1_Silent_p.A530A	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	530					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCTACAAAGCCCTGCAGTTTT	0.368000													25	35					0	0	0.002096	0	0
APIP	51074	broad.mit.edu	37	11	34909909	34909909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:34909909C>T	ENST00000395787.3	-	5	606	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	APIP_ENST00000278359.5_Missense_Mutation_p.R148Q|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	131					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TTTAAACTCCCGTCCTGGAAA	0.388000													39	45					0	0	0.003610	0	0
KIAA1244	57221	broad.mit.edu	37	6	138645205	138645205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:138645205G>A	ENST00000251691.4	+	31	5081	c.4915G>A	c.(4915-4917)Gaa>Aaa	p.E1639K		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1639					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)		CTTCAGCGGGGAAGGCTGCCA	0.672000													18	32					0	0	0.001523	0	0
CASP10	843	broad.mit.edu	37	2	202073988	202073988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:202073988C>T	ENST00000286186.6	+	9	1553	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	CASP10_ENST00000346817.5_Missense_Mutation_p.P330L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.P306L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.P373L|CASP10_ENST00000448480.1_Missense_Mutation_p.P330L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	373					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCCCTCATTCCCATTCGGGAG	0.517000													10	30					0	0	0.000978	0	0
SMAD9	4093	broad.mit.edu	37	13	37453736	37453736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:37453736C>T	ENST00000379826.4	-	2	433	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Missense_Mutation_p.E31K|SMAD9_ENST00000399275.2_Missense_Mutation_p.E31K	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	31	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCCCACTTTTCCTCTTCATCT	0.567000													16	46					0	0	0.004990	0	0
ASMTL	8623	broad.mit.edu	37	X	1546840	1546840	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:1546840G>A	ENST00000534940.1	-	7	735	c.510C>T	c.(508-510)tcC>tcT	p.S170S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Silent_p.S212S|ASMTL_ENST00000381317.3_Silent_p.S228S|ASMTL_ENST00000416733.2_Silent_p.S152S	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	228	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CGGCCGGGATGGAGTCGTGCT	0.672000													10	28					0	0	0.000443	0	0
COL21A1	81578	broad.mit.edu	37	6	56029246	56029246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56029246C>T	ENST00000244728.5	-	9	1743	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G449E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G446E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	449	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTGGTTTTCCCGGAGGACA	0.423000													3	5					0	0	0.000248	0	0
TRIM55	84675	broad.mit.edu	37	8	67062070	67062070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:67062070G>A	ENST00000315962.4	+	5	1167	c.794G>A	c.(793-795)gGa>gAa	p.G265E	TRIM55_ENST00000276573.7_Missense_Mutation_p.G265E|TRIM55_ENST00000353317.5_Missense_Mutation_p.G265E|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	265						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTTGAGTCAGGAATTCAGTTT	0.428000													28	30					0	0	0.002096	0	0
FLT4	2324	broad.mit.edu	37	5	180030269	180030269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:180030269C>T	ENST00000261937.6	-	30	4093	c.4015G>A	c.(4015-4017)Gag>Aag	p.E1339K		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	0					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCGACAGCTCCCCATACTCG	0.642000													18	8					0	0	0.006122	0	0
NOX5	79400	broad.mit.edu	37	15	69335131	69335131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:69335131C>T	ENST00000260364.5	+	11	1880	c.1579C>T	c.(1579-1581)Caa>Taa	p.Q527*	NOX5_ENST00000388866.3_Nonsense_Mutation_p.Q545*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Q517*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Q499*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.Q510*|RP11-809H16.4_ENST00000559495.1_RNA			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	545	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAAGAGTCAAAGGTCGTC	0.537000													14	16					0	0	0.003163	0	0
OR5B12	390191	broad.mit.edu	37	11	58207436	58207436	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:58207436G>C	ENST00000302572.2	-	1	210	c.189C>G	c.(187-189)aaC>aaG	p.N63K		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGGGAGAGGTTACTGAGGA	0.463000													12	1					0	0	0.000978	0	0
PDDC1	347862	broad.mit.edu	37	11	773625	773625	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:773625G>A	ENST00000319863.8	-	4	273	c.252C>T	c.(250-252)gcC>gcT	p.A84A	PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Silent_p.A84A|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000526325.1_Silent_p.A84A|PDDC1_ENST00000442059.2_Silent_p.A34A	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	84						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATGGTACCGGGCACCTGGGG	0.642000													7	9					0	0	0.004482	0	0
ZNF334	55713	broad.mit.edu	37	20	45131127	45131127	+	Missense_Mutation	SNP	C	C	T	rs138146245	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45131127C>T	ENST00000457685.2	-	6	2060	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	ZNF334_ENST00000593880.1_Missense_Mutation_p.R307Q|ZNF334_ENST00000347606.4_Missense_Mutation_p.R284Q			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGAATTCTTCGGTGTCGAGT	0.423000													25	55					0	0	0.004656	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773447	145773447	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145773447C>T	ENST00000276826.5	-	4	1224	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	ARHGAP39_ENST00000540274.1_Silent_p.Q341Q|ARHGAP39_ENST00000377307.2_Silent_p.Q341Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	341	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGAGCCGGCCTGGTAGCCCC	0.701000													9	11					0	0	0.004482	0	0
ABHD15	116236	broad.mit.edu	37	17	27893588	27893588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27893588C>T	ENST00000307201.4	-	1	567	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	133						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCCACTAGCCCATCGTCCGCC	0.687000													8	7					0	0	0.003080	0	0
EYA2	2139	broad.mit.edu	37	20	45809551	45809551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45809551C>T	ENST00000327619.5	+	14	1776	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Missense_Mutation_p.P438S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	468					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)				GTCTGTGTTTCCTATTGAGAA	0.537000													18	44					0	0	0.000958	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991306	35991306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:35991306G>A	ENST00000274278.3	-	1	394	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	UGT3A1_ENST00000507113.1_Missense_Mutation_p.L13F|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L13F|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	13						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGAAAGAAGGAAGGCCACT	0.607000													14	40					0	0	0.004007	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186858	7186858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7186858C>T	ENST00000317370.8	+	3	485	c.217C>T	c.(217-219)Cct>Tct	p.P73S	SLC2A4_ENST00000571308.1_Missense_Mutation_p.P73S|SLC2A4_ENST00000424875.2_Missense_Mutation_p.P63S|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	73					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						CAGCTCCATCCCTCCAGGCAC	0.597000													35	26					0	0	0.004878	0	0
MYO9A	4649	broad.mit.edu	37	15	72141213	72141213	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:72141213G>A	ENST00000356056.5	-	39	7282	c.6810C>T	c.(6808-6810)acC>acT	p.T2270T	MYO9A_ENST00000424560.1_Silent_p.T2341T|MYO9A_ENST00000444904.1_Silent_p.T2251T|MYO9A_ENST00000564571.1_Silent_p.T2270T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2270	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						GTGACAACCTGGTCTTTGCCT	0.383000													16	70					0	0	0.004007	0	0
FSIP2	401024	broad.mit.edu	37	2	186672248	186672248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:186672248C>T	ENST00000343098.5	+	17	18482	c.18482C>T	c.(18481-18483)aCc>aTc	p.T6161I	FSIP2_ENST00000424728.1_Missense_Mutation_p.T6072I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TATGTAGAAACCTTACAATCT	0.318000													33	98					0	0	0.004289	0	0
FRMPD2	143162	broad.mit.edu	37	10	49376703	49376703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:49376703C>T	ENST00000374201.3	-	27	3774	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	FRMPD2_ENST00000474573.1_Missense_Mutation_p.E110K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1133K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1126K|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1158	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCGTGACTTCCTGTGGGGCC	0.567000													28	1					0	0	0.001786	0	0
SLFN13	146857	broad.mit.edu	37	17	33772415	33772415	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:33772415G>A	ENST00000285013.6	-	3	560	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SLFN13_ENST00000533791.1_Silent_p.F95F|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Silent_p.F95F|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Silent_p.F95F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	95						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)		TAGTCTCAAAGAAAGCCTGCA	0.403000													36	27					0	0	0.005524	0	0
COL22A1	169044	broad.mit.edu	37	8	139790603	139790603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139790603C>T	ENST00000303045.6	-	15	2197	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G584E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	584	Collagen-like 3.|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)			TACAGGAGCTCCGACACGTCC	0.532000										HNSCC(7;0.00092)			13	17					0	0	0.003163	0	0
KIF19	124602	broad.mit.edu	37	17	72347046	72347046	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72347046T>G	ENST00000389916.4	+	12	1725		c.e12+2		AC103809.2_ENST00000599136.1_Intron	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGCAGAAGGTGTCCAGGGTT	0.637000													7	75					0	0	0.003080	0	0
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:131848633G>A	ENST00000286355.5	-	12	4657	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_ENST00000377928.3_Silent_p.S724S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	855					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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCAGGACGGAGTTCAGCC	0.537000										HNSCC(32;0.087)			15	44					0	0	0.004007	0	0
HYDIN	54768	broad.mit.edu	37	16	70942619	70942619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:70942619G>A	ENST00000393567.2	-	48	8300	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2717										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGACAGCTGGGAAATGGTTCC	0.517000													8	21					0	0	0.000443	0	0
CDH24	64403	broad.mit.edu	37	14	23517611	23517611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23517611C>T	ENST00000397359.3	-	13	2297	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.E680K|CDH24_ENST00000554034.1_Missense_Mutation_p.E642K|CDH24_ENST00000487137.2_Missense_Mutation_p.E642K	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	680					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ATGATGTTCTCTCGGACGTCC	0.682000													11	58					0	0	0.001368	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967344	31967344	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:31967344G>A	ENST00000357886.4	-	9	1225	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000452723.3_Silent_p.L254L|CDK5RAP1_ENST00000346416.2_Silent_p.L344L|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Silent_p.L344L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	358					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ACCTGATCCAGAAGATGAGCA	0.493000													16	28					0	0	0.004007	0	0
GLP1R	2740	broad.mit.edu	37	6	39034053	39034053	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:39034053C>T	ENST00000373256.4	+	5	526	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	161					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CTCTGGTTATCGCCTCTGCGA	0.602000													14	23					0	0	0.004007	0	0
CD93	22918	broad.mit.edu	37	20	23065308	23065308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:23065308C>T	ENST00000246006.4	-	1	1669	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	508					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)					TTGGGGGTGCCCTCGGGGCCC	0.647000													23	22					0	0	0.001271	0	0
NAA11	84779	broad.mit.edu	37	4	80246882	80246882	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:80246882C>T	ENST00000286794.4	-	1	322	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	50	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						CCACAATCTTCCCGTCCTCAT	0.522000													16	69					0	0	0.006122	0	0
MTBP	27085	broad.mit.edu	37	8	121509778	121509778	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:121509778C>T	ENST00000305949.1	+	14	1638	c.1593C>T	c.(1591-1593)acC>acT	p.T531T		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	531	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAATTAAAACCTTCAATATAT	0.259000													9	19					0	0	0.004482	0	0
PITPNM1	9600	broad.mit.edu	37	11	67260519	67260519	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:67260519G>A	ENST00000356404.3	-	23	3582	c.3357C>T	c.(3355-3357)atC>atT	p.I1119I	PITPNM1_ENST00000436757.2_Silent_p.I1118I|PITPNM1_ENST00000534749.1_Silent_p.I1119I	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1119					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						AACCGGCCACGATGTTCAGTT	0.647000													61	47					0	0	0.003610	0	0
SPAG17	200162	broad.mit.edu	37	1	118624213	118624213	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118624213C>T	ENST00000336338.5	-	14	1880	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	605						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTTCAGGCTCTCAAAAGTAA	0.438000													13	419					0	0	0.003163	0	0
IRX6	79190	broad.mit.edu	37	16	55361545	55361545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55361545C>T	ENST00000290552.7	+	4	1793	c.461C>T	c.(460-462)aCc>aTc	p.T154I	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAGAACGCGACCCGGGAGACC	0.572000													7	19					0	0	0.001984	0	0
NAV1	89796	broad.mit.edu	37	1	201751423	201751423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:201751423G>A	ENST00000367296.4	+	6	2203	c.1783G>A	c.(1783-1785)Ggc>Agc	p.G595S	NAV1_ENST00000295624.6_Missense_Mutation_p.G595S|NAV1_ENST00000367302.1_Missense_Mutation_p.G608S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.G595S|NAV1_ENST00000367300.3_Missense_Mutation_p.G595S|NAV1_ENST00000367295.1_Missense_Mutation_p.G204S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	595					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCCCCCCTCGGGCATTGCTCG	0.577000													34	27					0	0	0.002836	0	0
MYOM2	9172	broad.mit.edu	37	8	2057237	2057237	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:2057237T>G	ENST00000262113.4	+	25	3236	c.3095T>G	c.(3094-3096)gTt>gGt	p.V1032G	MYOM2_ENST00000523438.1_Missense_Mutation_p.V457G	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1032					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)		AAGGGGCGGGTTCGCTTCTGG	0.443000													21	34					0	0	0.002780	0	0
PTGER2	5732	broad.mit.edu	37	14	52794146	52794146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:52794146G>A	ENST00000245457.5	+	2	1205	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	PTGER2_ENST00000557436.1_Missense_Mutation_p.D96N	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	351						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TACACAGTCAGATGCCAGTAA	0.398000													24	43					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179554063	179554063	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179554063C>T	ENST00000589042.1	-	124	32189	c.31965G>A	c.(31963-31965)agG>agA	p.R10655R	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R10338R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.R9411R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10338	Glu-rich.|Pro-rich.						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)			GAACAGGTTTCCTTTCTTCAG	0.363000													23	17					0	0	0.003954	0	0
WIPF1	7456	broad.mit.edu	37	2	175436895	175436895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:175436895G>A	ENST00000392547.2	-	5	737	c.638C>T	c.(637-639)cCc>cTc	p.P213L	WIPF1_ENST00000359761.3_Missense_Mutation_p.P213L|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P213L|WIPF1_ENST00000272746.5_Missense_Mutation_p.P213L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P213L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P213L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	213					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CCCGGGGCTGGGCTGCCTGGG	0.637000													23	11					0	0	0.003330	0	0
CCDC63	160762	broad.mit.edu	37	12	111318964	111318964	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:111318964G>A	ENST00000308208.5	+	7	959	c.717G>A	c.(715-717)aaG>aaA	p.K239K	CCDC63_ENST00000552694.1_Silent_p.K160K|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.K199K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	239										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ACCGCCAGAAGAAGGACACCT	0.562000													6	16					0	0	0.001168	0	0
HSF5	124535	broad.mit.edu	37	17	56536308	56536308	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56536308T>A	ENST00000323777.3	-	5	1652		c.e5-2			NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCATCCACCTAAAATATTAA	0.383000													116	82					0	0	0.003610	0	0
CEP192	55125	broad.mit.edu	37	18	13059241	13059241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:13059241C>T	ENST00000506447.1	+	21	4498	c.4418C>T	c.(4417-4419)aCc>aTc	p.T1473I	CEP192_ENST00000325971.8_Missense_Mutation_p.T877I|CEP192_ENST00000430049.2_Missense_Mutation_p.T998I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1068										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGCTGAGACCATCGTACAG	0.463000													37	19					0	0	0.005524	0	0
ETNPPL	64850	broad.mit.edu	37	4	109680996	109680996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:109680996G>A	ENST00000296486.3	-	3	398	c.244C>T	c.(244-246)Cga>Tga	p.R82*	ETNPPL_ENST00000510706.1_Nonsense_Mutation_p.R42*|ETNPPL_ENST00000512646.1_Nonsense_Mutation_p.R24*|ETNPPL_ENST00000411864.2_Nonsense_Mutation_p.R76*	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TGGAGGAATCGAGAATTTGTA	0.418000													13	15					0	0	0.001855	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242269	87242269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:87242269G>A	ENST00000297524.3	-	1	341	c.238C>T	c.(238-240)Caa>Taa	p.Q80*	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Nonsense_Mutation_p.Q80*	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	80						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAATAGTATTGAGCTCCACTG	0.493000													12	19					0	0	0.000978	0	0
INPP5E	56623	broad.mit.edu	37	9	139327674	139327674	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:139327674G>A	ENST00000371712.3	-	4	1494	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	364						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCCGCCGAGGACAGCAGCA	0.692000													4	11					0	0	0.000248	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044403	90044403	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:90044403C>T	ENST00000462693.1	+	0	354																											CTGAGGATGTCGGGGTTTATT	0.527000													81	42					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94436523	94436523	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:94436523G>A	ENST00000282020.4	+	13	2412	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	GRID2_ENST00000510992.1_Silent_p.S623S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	718					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)	GCAATGGATCGGAGAACAATG	0.473000													24	24					0	0	0.001271	0	0
FAT4	79633	broad.mit.edu	37	4	126240916	126240916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:126240916C>T	ENST00000394329.3	+	1	3363	c.3350C>T	c.(3349-3351)tCg>tTg	p.S1117L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1117	Cadherin 11.				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						AGGGCTGGGTCGTTTGTGGGC	0.388000													54	51					0	0	0.003610	0	0
FAM124A	220108	broad.mit.edu	37	13	51825613	51825613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:51825613C>T	ENST00000322475.8	+	3	245	c.110C>T	c.(109-111)tCc>tTc	p.S37F	FAM124A_ENST00000280057.6_Missense_Mutation_p.S73F	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	37										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGTGAGCTTTCCGTTGAAGAG	0.522000													5	46					0	0	0.001168	0	0
COL27A1	85301	broad.mit.edu	37	9	116958288	116958288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:116958288G>A	ENST00000356083.3	+	7	2511	c.2120G>A	c.(2119-2121)cGa>cAa	p.R707Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	707	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTCCGGGACGAAAGGTACTG	0.597000													22	51					0	0	0.003330	0	0
GRM8	2918	broad.mit.edu	37	7	126882983	126882983	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:126882983G>A	ENST00000339582.2	-	2	1084	c.276C>T	c.(274-276)ctC>ctT	p.L92L	GRM8_ENST00000444921.2_Silent_p.L92L|GRM8_ENST00000405249.1_Silent_p.L92L|GRM8_ENST00000358373.3_Silent_p.L92L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	92					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTTGGAAAGGAGATCAGGGT	0.502000										HNSCC(24;0.065)			18	10					0	0	0.001523	0	0
MCMDC2	157777	broad.mit.edu	37	8	67796106	67796106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:67796106G>A	ENST00000422365.2	+	9	1121	c.950G>A	c.(949-951)gGg>gAg	p.G317E	MCMDC2_ENST00000313616.5_Missense_Mutation_p.G317E|MCMDC2_ENST00000396592.3_Missense_Mutation_p.G317E|MCMDC2_ENST00000541540.1_Missense_Mutation_p.G254E|MCMDC2_ENST00000492775.1_Missense_Mutation_p.G317E	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	317					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ACCCCTCCTGGGACTTACAAT	0.408000													26	21					0	0	0.001271	0	0
LACE1	246269	broad.mit.edu	37	6	108676932	108676932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:108676932C>T	ENST00000368977.4	+	4	676	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	164							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GGTTCATTTTCATGGTTTCAT	0.318000													10	31					0	0	0.000673	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672558	44672558	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:44672558C>T	ENST00000454036.1	+	11	1525	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	SLC12A5_ENST00000243964.3_Silent_p.V460V|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	483					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGAGGGGGTCGTCCTGCGGG	0.557000													34	26					0	0	0.005524	0	0
ZNF24	7572	broad.mit.edu	37	18	32917642	32917642	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:32917642T>A	ENST00000261332.6	-	4	840	c.661A>T	c.(661-663)Atg>Ttg	p.M221L	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.M221L	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	221					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GGAACACCCATATTGAGAGTG	0.408000													70	30					0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215890417	215890417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:215890417G>A	ENST00000272895.7	-	11	1486	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.P105S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	423					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P423T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGACTTCAGGAACTGGAGGA	0.299000													27	26					0	0	0.002445	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801116	62801116	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62801116G>A	ENST00000582986.1	-	0	716					NR_024386.1																						CTTGACTCTGGAGTCCCCCTG	0.537000													4	20					0	0	0.001168	0	0
ANAPC5	51433	broad.mit.edu	37	12	121756141	121756141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:121756141G>A	ENST00000261819.3	-	15	1953	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	ANAPC5_ENST00000535482.1_Missense_Mutation_p.S277F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S499F|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S499F|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S598F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	611					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTACTCCTTGGAGAGGGCCAG	0.537000													220	253					0	0	0.003610	0	0
SEPT4	5414	broad.mit.edu	37	17	56599151	56599151	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56599151G>A	ENST00000457347.2	-	8	1050	c.906C>T	c.(904-906)atC>atT	p.I302I	SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Silent_p.I279I|SEPT4_ENST00000580844.1_Silent_p.I188I|SEPT4_ENST00000579371.1_Silent_p.I188I|SEPT4_ENST00000580809.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Silent_p.I268I|SEPT4_ENST00000317268.3_Silent_p.I287I|SEPT4_ENST00000583114.1_Silent_p.I140I|SEPT4_ENST00000393086.1_Silent_p.I268I	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	287					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTAGCCAGGATAGGCACGA	0.562000													19	34					0	0	0.001216	0	0
VWA3B	200403	broad.mit.edu	37	2	98928408	98928408	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:98928408C>T	ENST00000477737.1	+	27	3852	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1216										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCAGCCACTCCAGCAGGCGG	0.642000													4	1					0	0	0.000248	0	0
ANGPT1	284	broad.mit.edu	37	8	108306214	108306214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:108306214G>A	ENST00000520734.1	-	5	673	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	ANGPT1_ENST00000520052.1_Missense_Mutation_p.R129C|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	330					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCATCTTCACGATGTTGTATT	0.338000													17	61					0	0	0.006122	0	0
MYH9	4627	broad.mit.edu	37	22	36689450	36689450	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:36689450G>A	ENST00000216181.5	-	30	4250	c.4020C>T	c.(4018-4020)tcC>tcT	p.S1340S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1340					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						GCTCCCGGAAGGAATTCTTCT	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	46					0	0	0.002450	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589625	11589625	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:11589625C>T	ENST00000294484.6	+	14	2949	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	PTCHD2_ENST00000389575.3_Silent_p.F937F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	937					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)		AGCTGTACTTCGCCCAGTCCC	0.652000													15	22					0	0	0.001523	0	0
COL8A1	1295	broad.mit.edu	37	3	99513179	99513179	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:99513179T>A	ENST00000261037.3	+	5	814	c.434T>A	c.(433-435)aTt>aAt	p.I145N	COL8A1_ENST00000273342.4_Missense_Mutation_p.I145N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	145	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						ATACCTGGAATTAAAGGAAAA	0.582000													8	10					0	0	0.003080	0	0
GPR161	23432	broad.mit.edu	37	1	168073859	168073859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:168073859G>A	ENST00000367838.1	-	4	543	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GPR161_ENST00000367835.1_Missense_Mutation_p.S77F|GPR161_ENST00000537209.1_Missense_Mutation_p.S97F|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000271357.5_Missense_Mutation_p.S77F|GPR161_ENST00000361697.2_Missense_Mutation_p.S77F	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	77					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CACCAACACGGACAGCAGGAA	0.537000													14	50					0	0	0.003163	0	0
ERICH1	157697	broad.mit.edu	37	8	665918	665918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:665918G>A	ENST00000262109.7	-	2	189	c.112C>T	c.(112-114)Cca>Tca	p.P38S	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	38										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTCTTTGGTGGATTTTGGACG	0.502000													41	57					0	0	0.002852	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591657	70591657	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:70591657G>A	ENST00000260126.3	-	8	2686	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	SLCO5A1_ENST00000530307.1_Silent_p.F605F|SLCO5A1_ENST00000524945.1_Silent_p.F660F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	660						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGCTGTGATGAAGGTGACTA	0.423000													18	69					0	0	0.000958	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648297	75648297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:75648297G>A	ENST00000565683.1	-	26	3135	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	MAN2C1_ENST00000563622.1_Missense_Mutation_p.P926S|MAN2C1_ENST00000267978.5_Missense_Mutation_p.P1025S|MAN2C1_ENST00000569482.1_Missense_Mutation_p.P1002S	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1025					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.P1025S(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						ACTTGGAAGGGAGAAAAGGTG	0.582000													4	12					0	0	0.000602	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370584	86370584	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:86370584G>A	ENST00000400286.2	-	2	658	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	20						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGGAGTTTGGGAGTGTAAAG	0.383000													15	33					0	0	0.002450	0	0
ELAC2	60528	broad.mit.edu	37	17	12899064	12899064	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:12899064G>A	ENST00000338034.4	-	19	2003	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	ELAC2_ENST00000395962.2_Silent_p.L569L|ELAC2_ENST00000426905.3_Silent_p.L548L	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	588					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTACTGCTGGAGCCAGGCTT	0.592000													9	12					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179592958	179592958	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179592958G>A	ENST00000589042.1	-	67	19817	c.19593C>T	c.(19591-19593)tgC>tgT	p.C6531C	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.C6214C|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.C5287C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6214	Ig-like 46.						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)			ATCTCTCATGGCACACAAGTC	0.393000													5	23					0	0	0.000602	0	0
KIAA1199	57214	broad.mit.edu	37	15	81230231	81230231	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:81230231G>A	ENST00000394685.3	+	25	3737	c.3318G>A	c.(3316-3318)aaG>aaA	p.K1106K	KIAA1199_ENST00000356249.5_Silent_p.K1106K|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.K1106K			Q8WUJ3	K1199_HUMAN	KIAA1199	1106										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAACGTCCAAGACGGGCGTCT	0.602000													17	23					0	0	0.004990	0	0
STK10	6793	broad.mit.edu	37	5	171510058	171510058	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:171510058G>A	ENST00000176763.5	-	11	2059	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	572							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)			CTTCTTTCTGGAGCAGCCGAA	0.458000													15	38					0	0	0.001216	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726441	168726441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:168726441C>T	ENST00000305861.1	+	2	1243	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	B3GALT1_ENST00000392690.2_Missense_Mutation_p.R298C|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	298					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						GTGTAGGTATCGCCGAGTTAT	0.433000													8	22					0	0	0.003080	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391512	139391512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:139391512G>A	ENST00000277541.6	-	34	6754	c.6679C>T	c.(6679-6681)Ccg>Tcg	p.P2227S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2227					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCACGGACGGAGACTGCTGG	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	21					0	0	0.003080	0	0
PTPN11	5781	broad.mit.edu	37	12	112926270	112926270	+	Missense_Mutation	SNP	C	C	T	rs121918457		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:112926270C>T	ENST00000351677.2	+	12	1601	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	472	Substrate binding (By similarity).|Tyrosine-protein phosphatase.		G -> A (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T468M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CGGACAGGGACGTTCATTGTG	0.443000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				33	25					0	0	0.001485	0	0
ITGA8	8516	broad.mit.edu	37	10	15701017	15701017	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:15701017T>G	ENST00000378076.3	-	10	1282	c.929A>C	c.(928-930)cAg>cCg	p.Q310P		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	310					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGTGAAATTCTGAATAAACGT	0.318000													9	34					0	0	0.000673	0	0
C1orf105	92346	broad.mit.edu	37	1	172417667	172417667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:172417667C>T	ENST00000367727.4	+	3	392	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	65										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GATGTTTTATCTAAGGTACTA	0.338000													33	31					0	0	0.001786	0	0
TRIM9	114088	broad.mit.edu	37	14	51492019	51492019	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:51492019A>C	ENST00000298355.3	-	2	2003	c.882T>G	c.(880-882)ttT>ttG	p.F294L	TRIM9_ENST00000338969.5_Missense_Mutation_p.F294L|TRIM9_ENST00000360392.4_Missense_Mutation_p.F294L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	294					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTGTACCAGAAACTCCTTGG	0.552000													43	64					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9069094	9069094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9069094G>A	ENST00000397910.4	-	3	18555	c.18352C>T	c.(18352-18354)Cct>Tct	p.P6118S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6120	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						ATGAATGTAGGATCATAGTAG	0.483000													6	13					0	0	0.001168	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077451	23077451	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:23077451C>T	ENST00000390310.2	+	0	241																											GTAATCGGCCCTCAGGGGTCC	0.567000													36	121					0	0	0.001485	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562967	140562967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140562967C>T	ENST00000361016.2	+	1	1988	c.833C>T	c.(832-834)tCa>tTa	p.S278L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		278	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAAAATATCATACACACTC	0.468000													8	32					0	0	0.004482	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966933	7966933	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7966933C>T	ENST00000543909.1	-	16	2301	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	SLC2A14_ENST00000542505.1_Silent_p.K155K|SLC2A14_ENST00000340749.5_Silent_p.K491K|SLC2A14_ENST00000542546.1_Silent_p.K405K|SLC2A14_ENST00000535295.1_Silent_p.K405K|SLC2A14_ENST00000539924.1_Silent_p.K529K|SLC2A14_ENST00000396589.2_Silent_p.K514K|SLC2A14_ENST00000431042.2_Silent_p.K491K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	514					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)		TGGTGGTCTCCTTAGCAGGCT	0.547000													60	21					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152647157	152647157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:152647157G>A	ENST00000367255.5	-	80	15975	c.15374C>T	c.(15373-15375)tCt>tTt	p.S5125F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S5054F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5125F|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5054F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5125					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)		AGAAAACTCAGACAATTTCTT	0.368000										HNSCC(10;0.0054)			21	35					0	0	0.001523	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555850	101555850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:101555850G>A	ENST00000536262.2	-	13	2090	c.1532C>T	c.(1531-1533)cCa>cTa	p.P511L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	511					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCATCAGTGGAGTCCTAAG	0.378000													82	28					0	0	0.003610	0	0
CR1L	1379	broad.mit.edu	37	1	207890877	207890877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207890877C>T	ENST00000508064.2	+	11	1543	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	495	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAGATATTCCCTATGGAAA	0.458000													27	76					0	0	0.001061	0	0
COL21A1	81578	broad.mit.edu	37	6	56044748	56044748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56044748G>A	ENST00000244728.5	-	3	665	c.268C>T	c.(268-270)Cct>Tct	p.P90S	COL21A1_ENST00000535941.1_Missense_Mutation_p.P90S|COL21A1_ENST00000370819.1_Missense_Mutation_p.P90S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	90	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTCCGAGAGGAATCTCCAGC	0.438000													20	14					0	0	0.001216	0	0
ACOX2	8309	broad.mit.edu	37	3	58519210	58519210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58519210C>T	ENST00000302819.5	-	5	836	c.545G>A	c.(544-546)aGc>aAc	p.S182N	ACOX2_ENST00000459701.2_Missense_Mutation_p.S182N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	182					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAGCGTGGGGCTGTGTATCAC	0.532000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	64					0	0	0.003163	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307248	140307248	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140307248C>T	ENST00000253807.2	+	1	771	c.771C>T	c.(769-771)gcC>gcT	p.A257A	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.A257A|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTTCAAGCCTTGGATCCAG	0.532000													12	21					0	0	0.001855	0	0
NFKB1	4790	broad.mit.edu	37	4	103459047	103459047	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:103459047C>T	ENST00000226574.4	+	5	659	c.192C>T	c.(190-192)ggC>ggT	p.G64G	NFKB1_ENST00000505458.1_Silent_p.G63G|NFKB1_ENST00000394820.4_Silent_p.G63G	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	63	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)	TATGTGAAGGCCCATCCCATG	0.398000													13	61					0	0	0.003163	0	0
DUS1L	64118	broad.mit.edu	37	17	80020802	80020802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80020802G>A	ENST00000354321.7	-	4	930	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	DUS1L_ENST00000306796.5_Missense_Mutation_p.R149C			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	149					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	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)			GGGAAGACACGGATTTTGCAC	0.607000													9	31					0	0	0.000673	0	0
CES5A	221223	broad.mit.edu	37	16	55893542	55893542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55893542C>T	ENST00000521992.1	-	9	1205	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.D295N|CES5A_ENST00000319165.9_Missense_Mutation_p.D325N|CES5A_ENST00000290567.9_Missense_Mutation_p.D325N|CES5A_ENST00000518005.1_Missense_Mutation_p.D219N	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	325						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						GACAATAGATCTAGAGGCTCA	0.398000													14	15					0	0	0.001855	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399424	89399424	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:89399424G>A	ENST00000479981.1	-	0	305																											TGGTGAGAGTGAAATCTGTCC	0.473000													38	58					0	0	0.003610	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927162	130927162	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:130927162G>A	ENST00000261655.4	-	8	847	c.684C>T	c.(682-684)ttC>ttT	p.F228F	RIMBP2_ENST00000536002.1_Silent_p.F136F|RIMBP2_ENST00000535703.1_Silent_p.F136F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	228	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAAAGTCCACGAAGTTGGAGG	0.602000													9	17					0	0	0.000443	0	0
LRRC15	131578	broad.mit.edu	37	3	194080774	194080774	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:194080774G>A	ENST00000347624.3	-	2	1084	c.999C>T	c.(997-999)tcC>tcT	p.S333S	LRRC15_ENST00000439944.2_Silent_p.S339S|LRRC15_ENST00000428839.1_Silent_p.S339S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	333						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCACCCGGGGAGATGAAGC	0.567000													9	14					0	0	0.000673	0	0
OR2F1	26211	broad.mit.edu	37	7	143657855	143657855	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143657855C>T	ENST00000392899.1	+	1	829	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	264					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)					AGCCCCACTCCAGTCCCTCTG	0.473000													12	46					0	0	0.001368	0	0
SPATA32	124783	broad.mit.edu	37	17	43333173	43333173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43333173G>A	ENST00000543122.1	-	6	1094	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.P126S					spermatogenesis associated 32																		AGACTCCACGGTCTGAAGGTC	0.557000													45	50					0	0	0.002852	0	0
APC	324	broad.mit.edu	37	5	112174399	112174399	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112174399G>T	ENST00000457016.1	+	16	3488	c.3108G>T	c.(3106-3108)ttG>ttT	p.L1036F	APC_ENST00000257430.4_Missense_Mutation_p.L1036F|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1036F			P25054	APC_HUMAN	adenomatous polyposis coli	1036	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGAGCAGTTGAACTCTGGAA	0.348000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	32					4.7546e-09	8.21287e-09	0.004007	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454777	84454777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:84454777G>A	ENST00000377084.2	-	1	1751	c.866C>T	c.(865-867)cCt>cTt	p.P289L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289						integral to membrane		p.P289H(1)|p.P289L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTTGAAAGGAGTTGGCAG	0.537000													14	31					0	0	0.002450	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570822	47570822	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:47570822G>A	ENST00000253048.5	-	15	2740	c.2703C>T	c.(2701-2703)ccC>ccT	p.P901P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	901							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGCTGCCTTCGGGCTTGGAGG	0.701000													16	6					0	0	0.004007	0	0
FSTL5	56884	broad.mit.edu	37	4	162402298	162402298	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:162402298C>T	ENST00000306100.5	-	13	1918	c.1482G>A	c.(1480-1482)gaG>gaA	p.E494E	FSTL5_ENST00000427802.2_Silent_p.E484E|FSTL5_ENST00000379164.4_Silent_p.E493E|FSTL5_ENST00000536695.1_Silent_p.E493E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	494						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCATCTCCCTCAGCTTTGG	0.373000													43	118					0	0	0.003610	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:151124224G>A	ENST00000370325.1	-	7	946	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_ENST00000370328.3_Missense_Mutation_p.S298F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCAAAAGGAAACCCAGGA	0.512000													45	1					0	0	0.003610	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379083	25379083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:25379083C>T	ENST00000315368.3	+	2	176	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R12W	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CCCATCCTTCCGGGTGGTGGG	0.627000													6	25					0	0	0.001984	0	0
PAN3	255967	broad.mit.edu	37	13	28830518	28830518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:28830518C>T	ENST00000399613.1	+	6	553	c.490C>T	c.(490-492)Cca>Tca	p.P164S	PAN3_ENST00000282391.5_Missense_Mutation_p.P52S|PAN3_ENST00000483842.1_3'UTR|PAN3_ENST00000380958.3_Missense_Mutation_p.P364S			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	364	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGTCACACTCCAAATCCAGC	0.463000													47	58					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94436524	94436524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:94436524G>A	ENST00000282020.4	+	13	2413	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	GRID2_ENST00000510992.1_Missense_Mutation_p.E624K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	719					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)	CAATGGATCGGAGAACAATGT	0.473000													24	25					0	0	0.001271	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291314	141291314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:141291314G>A	ENST00000247452.3	-	3	807	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	154	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTATTTGAGGAGCAGGAAC	0.488000										HNSCC(46;0.14)			42	38					0	0	0.002222	0	0
FOXR2	139628	broad.mit.edu	37	X	55650279	55650279	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:55650279C>T	ENST00000339140.3	+	1	447	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	45					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGAGCAAATCCTTGCCAAAT	0.517000													40	2					0	0	0.001706	0	0
FBN2	2201	broad.mit.edu	37	5	127609652	127609652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:127609652C>T	ENST00000508053.1	-	67	8694	c.7720G>A	c.(7720-7722)Gaa>Aaa	p.E2574K	FBN2_ENST00000262464.4_Missense_Mutation_p.E2574K			P35556	FBN2_HUMAN	fibrillin 2	2574	EGF-like 44; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACCCACATTCGTTGTTGTCT	0.433000													10	17					0	0	0.001855	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435355	18435355	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18435355T>C	ENST00000433979.1	+	2	456	c.340T>C	c.(340-342)Tta>Cta	p.L114L	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Silent_p.L114L|PIK3C2G_ENST00000538779.1_Silent_p.L114L|PIK3C2G_ENST00000266497.5_Silent_p.L114L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	114					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCTTCTGTGTTACCAAAACC	0.413000													52	45					0	0	0.003610	0	0
HOXA6	3203	broad.mit.edu	37	7	27187097	27187097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:27187097G>A	ENST00000222728.3	-	1	296	c.272C>T	c.(271-273)tCg>tTg	p.S91L	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	91						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCCACTGCCCGAGGGCGAGGC	0.622000													19	16					0	0	0.001216	0	0
SMAD2	4087	broad.mit.edu	37	18	45395780	45395780	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:45395780G>A	ENST00000402690.2	-	4	748	c.354C>T	c.(352-354)tcC>tcT	p.S118S	SMAD2_ENST00000591214.1_Silent_p.S88S|SMAD2_ENST00000586040.1_Silent_p.S88S|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000262160.6_Silent_p.S118S|SMAD2_ENST00000356825.4_Silent_p.S88S	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	118	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTTTTCGATGGGATACCTGGA	0.418000													16	5					0	0	0.004990	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819321	159819321	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:159819321G>A	ENST00000497452.1	-	0	517																											ACTCAGGGATGAAAATTCTTA	0.388000													37	115					0	0	0.005524	0	0
ERC2	26059	broad.mit.edu	37	3	56026215	56026215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56026215C>T	ENST00000288221.6	-	11	2380	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	709						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCTCTTTATCGAGCTGTTTT	0.448000													98	112					0	0	0.003610	0	0
GRM6	2916	broad.mit.edu	37	5	178418981	178418981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:178418981G>A	ENST00000231188.5	-	2	786	c.608C>T	c.(607-609)gCc>gTc	p.A203V	GRM6_ENST00000517717.1_Missense_Mutation_p.A203V	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	203					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCCACCATGGCCTGCGCCTG	0.617000													12	6					0	0	0.000978	0	0
DPP6	1804	broad.mit.edu	37	7	154379772	154379772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:154379772C>T	ENST00000406326.1	+	6	1443	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGCAGATTTCGGGCCAGAGA	0.587000													33	35					0	0	0.004289	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356686	37356686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:37356686G>A	ENST00000217420.1	+	2	1245	c.982G>A	c.(982-984)Ggc>Agc	p.G328S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	328					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCGCTGGAGGGCAATATGCA	0.562000													12	25					0	0	0.000978	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890040	20890040	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:20890040G>A	ENST00000381552.1	+	11	1750		c.e11-1		SLCO1C1_ENST00000266509.2_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTCTTTTCAGAACCAAACCT	0.338000													11	38					0	0	0.001368	0	0
RAD17	5884	broad.mit.edu	37	5	68682007	68682007	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:68682007G>A	ENST00000509734.1	+	9	1410	c.731_splice	c.e9-1	p.R244_splice	RAD17_ENST00000305138.4_Splice_Site_p.R233_splice|RAD17_ENST00000345306.6_Splice_Site_p.R233_splice|RAD17_ENST00000361732.2_Splice_Site_p.R233_splice|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Splice_Site_p.R68_splice|RAD17_ENST00000354312.3_Splice_Site_p.R233_splice|RAD17_ENST00000380774.3_Splice_Site_p.R244_splice|RAD17_ENST00000282891.6_Splice_Site_p.R147_splice|RAD17_ENST00000358030.2_Splice_Site_p.R68_splice|RAD17_ENST00000354868.5_Splice_Site_p.R233_splice			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	244					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GTTATTTTAGGAAGTATGTGA	0.328000								Other conserved DNA damage response genes					21	47					0	0	0.001523	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642489	127642489	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:127642489G>A	ENST00000405109.1	+	2	1052	c.585G>A	c.(583-585)ctG>ctA	p.L195L	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.L195L|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	195	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGAGCATTCTGGACTTAGTTC	0.358000													19	21					0	0	0.000958	0	0
BAGE2	85319	broad.mit.edu	37	21	11097569	11097569	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:11097569C>T	ENST00000470054.1	-	0	300									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)		CTTcaggctccaacctccagc	0.542000													6	46					0	0	0.001168	0	0
KLHL6	89857	broad.mit.edu	37	3	183209743	183209743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:183209743C>T	ENST00000341319.3	-	7	1873	c.1838G>A	c.(1837-1839)aGg>aAg	p.R613K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	613										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGCACGATCCTGCGGATGTG	0.672000													13	28					0	0	0.002450	0	0
FCGBP	8857	broad.mit.edu	37	19	40419943	40419943	+	Silent	SNP	C	C	T	rs148754431	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40419943C>T	ENST00000221347.6	-	6	3058	c.3051G>A	c.(3049-3051)cgG>cgA	p.R1017R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1017	VWFD 2.					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)			GACCCCCACCCCGCAGAGCCA	0.617000													22	5					0	0	0.002780	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517294	140517294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140517294G>A	ENST00000231134.5	+	1	2495	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		760					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)			AGACTCAGGGGCCGGCGAGTT	0.587000													29	63					0	0	0.002096	0	0
TNFSF12	8742	broad.mit.edu	37	17	7460614	7460614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7460614C>T	ENST00000293825.6	+	7	960	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_3'UTR	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12											central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCCCTGGGCCCATCTCAAGGC	0.701000													5	20					0	0	0.000602	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821151	43821151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:43821151G>A	ENST00000389420.3	-	27	4066	c.4067C>T	c.(4066-4068)cCa>cTa	p.P1356L	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474L|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1356	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAAGGCCCTGGACCACATTG	0.448000													16	35					0	0	0.004990	0	0
UBR5	51366	broad.mit.edu	37	8	103359165	103359165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:103359165G>A	ENST00000520539.1	-	6	1148	c.542C>T	c.(541-543)cCa>cTa	p.P181L	UBR5_ENST00000220959.4_Missense_Mutation_p.P181L|UBR5_ENST00000521922.1_Missense_Mutation_p.P181L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	181					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GACAGATGCTGGAATAACTGG	0.517000													37	35					0	0	0.001287	0	0
FRMD5	84978	broad.mit.edu	37	15	44181045	44181045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:44181045C>T	ENST00000417257.1	-	9	930	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	FRMD5_ENST00000484674.1_Missense_Mutation_p.E163K|FRMD5_ENST00000402883.1_Missense_Mutation_p.E252K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	252	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GTCTTTCCTTCAAATTTCAGC	0.473000													12	48					0	0	0.001855	0	0
RIMS2	9699	broad.mit.edu	37	8	104922644	104922644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:104922644G>A	ENST00000262231.10	+	3	1392	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	605					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATGTACTTTGGTGGCCACTC	0.453000										HNSCC(12;0.0054)			47	59					0	0	0.003610	0	0
PSMB8	5696	broad.mit.edu	37	6	32809442	32809442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32809442C>T	ENST00000374881.2	-	5	885	c.596G>A	c.(595-597)gGg>gAg	p.G199E	PSMB8_ENST00000395339.3_Missense_Mutation_p.G179E|PSMB8_ENST00000374882.3_Missense_Mutation_p.G203E	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	203					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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						ATAAGTGTTCCCACTACCCGT	0.502000													63	109					0	0	0.003610	0	0
TRPC3	7222	broad.mit.edu	37	4	122854053	122854053	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:122854053G>A	ENST00000264811.5	-	1	559	c.141C>T	c.(139-141)gcC>gcT	p.A47A	TRPC3_ENST00000513531.1_Silent_p.A47A|TRPC3_ENST00000379645.3_Silent_p.A120A	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	35					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCCGTACTCGGCGGCGTCGA	0.662000													13	36					0	0	0.003163	0	0
GDA	9615	broad.mit.edu	37	9	74838040	74838040	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:74838040C>A	ENST00000358399.3	+	7	704	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	GDA_ENST00000376989.3_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.S204Y|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Missense_Mutation_p.S130Y|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	204					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTCCAGTATTCTAGAGTGAAG	0.368000													28	47					4.40665e-25	7.66524e-25	0.001786	1	0
PDE2A	5138	broad.mit.edu	37	11	72289953	72289953	+	Silent	SNP	C	C	G	rs143835725		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:72289953C>G	ENST00000334456.5	-	28	2702	c.2457G>C	c.(2455-2457)acG>acC	p.T819T	PDE2A_ENST00000544570.1_Silent_p.T812T|PDE2A_ENST00000444035.2_Silent_p.T810T|PDE2A_ENST00000540345.1_Silent_p.T810T|PDE2A_ENST00000376450.3_Silent_p.T563T|PDE2A_ENST00000418754.2_Silent_p.T704T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	819	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGATCTTTCTCGTAGTCTTCC	0.592000													100	120					0	0	0.003610	0	0
PRB2	653247	broad.mit.edu	37	12	11546453	11546453	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:11546453C>G	ENST00000389362.4	-	3	594	c.559G>C	c.(559-561)Gga>Cga	p.G187R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTTGCCTCCTTGTGGGGGT	0.602000													34	119					0	0	0.003610	0	0
METTL22	79091	broad.mit.edu	37	16	8738530	8738530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:8738530C>T	ENST00000381920.3	+	10	1385	c.1127C>T	c.(1126-1128)cCc>cTc	p.P376L	METTL22_ENST00000561758.1_Missense_Mutation_p.P320L|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	376							methyltransferase activity			large_intestine(5)|lung(4)	9						GTGGTGGAGCCCGTGGAGGCC	0.617000													21	41					0	0	0.001523	0	0
DNAH10	196385	broad.mit.edu	37	12	124399040	124399040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124399040C>T	ENST00000409039.3	+	60	10188	c.10163C>T	c.(10162-10164)cCc>cTc	p.P3388L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3388					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGGAGATCCCCCTGAGCCAG	0.592000													4	16					0	0	0.001168	0	0
TTF2	8458	broad.mit.edu	37	1	117633165	117633165	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:117633165C>T	ENST00000369466.3	+	15	2552	c.2508C>T	c.(2506-2508)ccC>ccT	p.P836P		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	836					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATACTGCCCCAGCGTAAAT	0.358000													20	12					0	0	0.001882	0	0
PNLDC1	154197	broad.mit.edu	37	6	160229840	160229840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:160229840G>A	ENST00000275275.5	+	8	769	c.598G>A	c.(598-600)Gat>Aat	p.D200N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.D211N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	200						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTGCTGAAAGATGAGGGGGT	0.547000													8	6					0	0	0.004482	0	0
WIPI2	26100	broad.mit.edu	37	7	5254224	5254224	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:5254224C>T	ENST00000288828.4	+	4	502	c.270C>T	c.(268-270)atC>atT	p.I90I	WIPI2_ENST00000404704.3_Silent_p.I90I|WIPI2_ENST00000401525.3_Silent_p.I72I|WIPI2_ENST00000382384.2_Silent_p.I72I|WIPI2_ENST00000484262.1_Silent_p.I31I|WIPI2_ENST00000485854.1_3'UTR	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	90					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TAGTGGCCATCGTCAGCCTTA	0.473000													19	58					0	0	0.001216	0	0
EPN2	22905	broad.mit.edu	37	17	19237289	19237289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:19237289C>T	ENST00000314728.5	+	11	2132	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	EPN2_ENST00000575595.1_Missense_Mutation_p.P258S|EPN2_ENST00000395620.2_Missense_Mutation_p.P493S|EPN2_ENST00000571254.1_Missense_Mutation_p.P486S|EPN2_ENST00000395618.3_Missense_Mutation_p.P265S|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P493S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	550	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CACCTCGGCCCCTGTTAACCC	0.662000													4	14					0	0	0.000602	0	0
PLCE1	51196	broad.mit.edu	37	10	95791619	95791619	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:95791619G>A	ENST00000260766.3	+	2	1450	c.816G>A	c.(814-816)aaG>aaA	p.K272K	PLCE1_ENST00000371380.2_Silent_p.K272K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	272					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGTGAGAAGGTTGACATGG	0.388000													23	64					0	0	0.002299	0	0
TACC2	10579	broad.mit.edu	37	10	123845921	123845921	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123845921G>A	ENST00000369005.1	+	4	4246	c.3906G>A	c.(3904-3906)ggG>ggA	p.G1302G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.G1302G|TACC2_ENST00000453444.2_Silent_p.G1302G|TACC2_ENST00000515603.1_Silent_p.G1302G|TACC2_ENST00000334433.3_Silent_p.G1302G|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1302						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)				CTGCAGGTGGGGAAATCCCTG	0.607000													6	9					0	0	0.003080	0	0
ADCY7	113	broad.mit.edu	37	16	50349029	50349029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:50349029G>A	ENST00000394697.2	+	25	3416	c.3076G>A	c.(3076-3078)Gga>Aga	p.G1026R	ADCY7_ENST00000254235.3_Missense_Mutation_p.G1026R			P51828	ADCY7_HUMAN	adenylate cyclase 7	1026					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGAAAGCACTGGAGAACTTGG	0.507000													25	19					0	0	0.004656	0	0
ADCY1	107	broad.mit.edu	37	7	45650040	45650040	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:45650040G>A	ENST00000297323.7	+	3	874	c.852G>A	c.(850-852)ctG>ctA	p.L284L	ADCY1_ENST00000432715.1_Silent_p.L59L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	284					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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGACTTCCTGAAGCCCCCTG	0.602000													34	40					0	0	0.005524	0	0
XPO6	23214	broad.mit.edu	37	16	28118941	28118941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28118941G>A	ENST00000304658.5	-	18	2899	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	XPO6_ENST00000565698.1_Missense_Mutation_p.S786L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	800					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GGACTCCCCCGAGATATTCTC	0.488000													27	35					0	0	0.001061	0	0
NPY1R	4886	broad.mit.edu	37	4	164247564	164247564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:164247564C>T	ENST00000296533.2	-	2	674	c.143G>A	c.(142-144)gGa>gAa	p.G48E	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	48					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.G48V(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATCACAGCTCCATAAGCAAG	0.408000													21	51					0	0	0.002299	0	0
KRT222	125113	broad.mit.edu	37	17	38813978	38813978	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:38813978C>T	ENST00000476049.1	-	4	512	c.471G>A	c.(469-471)ggG>ggA	p.G157G	KRT222_ENST00000394052.3_Silent_p.G157G			Q8N1A0	KT222_HUMAN	keratin 222	157						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGTCTTTTTTCCCACCTTGGA	0.308000													20	70					0	0	0.002780	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75044868	75044868	+	RNA	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:75044868A>C	ENST00000393633.2	+	0	3680																				large_intestine(1)|lung(1)	2						CCTCTGCCCTAGGAAGATCTT	0.602000													8	16					0	0	0.000443	0	0
RGS7	6000	broad.mit.edu	37	1	241031931	241031931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:241031931G>A	ENST00000366565.1	-	9	946	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F	RGS7_ENST00000366563.1_Missense_Mutation_p.L189F|RGS7_ENST00000366564.1_Missense_Mutation_p.L189F|RGS7_ENST00000446183.2_Missense_Mutation_p.L105F|RGS7_ENST00000348120.2_Missense_Mutation_p.L136F|RGS7_ENST00000407727.1_Missense_Mutation_p.L189F|RGS7_ENST00000331110.7_Missense_Mutation_p.L163F|RGS7_ENST00000401882.1_Missense_Mutation_p.L136F|RGS7_ENST00000366562.4_Missense_Mutation_p.L189F	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	189					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|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGGCTGTCAAGGATCTTCCTT	0.458000													26	39					0	0	0.001061	0	0
FILIP1	27145	broad.mit.edu	37	6	76022779	76022779	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:76022779C>T	ENST00000393004.2	-	5	2990	c.2769G>A	c.(2767-2769)gcG>gcA	p.A923A	FILIP1_ENST00000237172.7_Silent_p.A923A|FILIP1_ENST00000370020.1_Silent_p.A824A|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCCAAAGTCGCAGTGCTGT	0.473000													35	58					0	0	0.001485	0	0
MUC16	94025	broad.mit.edu	37	19	9028394	9028394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9028394G>A	ENST00000397910.4	-	11	36601	c.36398C>T	c.(36397-36399)cCa>cTa	p.P12133L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12135	SEA 1.				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						ATCCTTCTCTGGCCTGGGTAA	0.527000													19	39					0	0	0.004656	0	0
DLEC1	9940	broad.mit.edu	37	3	38163826	38163826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:38163826G>A	ENST00000308059.6	+	37	5212	c.5191G>A	c.(5191-5193)Ggt>Agt	p.G1731S	DLEC1_ENST00000346219.3_Silent_p.S1689S|DLEC1_ENST00000452631.2_Missense_Mutation_p.G1734S			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1731					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)		AGGTGTGCTCGGTGAGAAGTC	0.642000													29	26					0	0	0.002836	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726392	67726392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:67726392C>T	ENST00000433211.1	-	17	2552	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E	CTNNA3_ENST00000373735.1_Missense_Mutation_p.G132E|CTNNA3_ENST00000373744.4_Missense_Mutation_p.G793E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	793					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GAGCTCTCCTCCCAGGTTCTG	0.448000													12	49					0	0	0.003163	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:152507129C>T	ENST00000427231.2	-	53	7388	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_ENST00000172853.10_Missense_Mutation_p.D2396N|NEB_ENST00000603639.1_Missense_Mutation_p.D2396N|NEB_ENST00000397345.3_Missense_Mutation_p.D2396N|NEB_ENST00000604864.1_Missense_Mutation_p.D2396N|NEB_ENST00000409198.1_Missense_Mutation_p.D2396N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2396					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)		TGCACAACATCGTTCTGATCA	0.388000													93	40					0	0	0.003610	0	0
TGM2	7052	broad.mit.edu	37	20	36760877	36760877	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:36760877G>A	ENST00000361475.2	-	11	1814	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	TGM2_ENST00000536724.1_Silent_p.L487L|TGM2_ENST00000536701.1_Silent_p.L466L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	547					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATTTCTCATAGAGGATGCAAA	0.547000													82	89					0	0	0.003610	0	0
NUP214	8021	broad.mit.edu	37	9	134073038	134073038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:134073038C>T	ENST00000359428.5	+	29	4301	c.4157C>T	c.(4156-4158)cCc>cTc	p.P1386L	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Missense_Mutation_p.P1387L|NUP214_ENST00000483497.2_Missense_Mutation_p.P212L|NUP214_ENST00000411637.2_Missense_Mutation_p.P1376L			P35658	NU214_HUMAN	nucleoporin 214kDa	1386	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACGGAGCCCCCTGTGACA	0.572000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								31	32					0	0	0.001786	0	0
ABCA8	10351	broad.mit.edu	37	17	66883609	66883609	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:66883609G>A	ENST00000269080.2	-	23	3200	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	ABCA8_ENST00000586539.1_Silent_p.S1061S|ABCA8_ENST00000430352.2_Silent_p.S1061S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1021						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAGCAGAAGGGGAGAGTCCGG	0.433000													59	145					0	0	0.003610	0	0
VPS4B	9525	broad.mit.edu	37	18	61064419	61064419	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61064419G>A	ENST00000238497.5	-	9	1143	c.940C>T	c.(940-942)Cta>Tta	p.L314L		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	314					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GTGGTCCCTAGGTGCAGTTTA	0.413000													16	28					0	0	0.006122	0	0
ABCA3	21	broad.mit.edu	37	16	2376255	2376255	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:2376255C>T	ENST00000301732.5	-	5	775	c.75G>A	c.(73-75)acG>acA	p.T25T	ABCA3_ENST00000382381.3_Silent_p.T25T|ABCA3_ENST00000567910.1_Silent_p.T25T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	25					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTTCCAGGACCGTCACCAGGA	0.567000													5	41					0	0	0.000602	0	0
HRH3	11255	broad.mit.edu	37	20	60791352	60791352	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:60791352G>C	ENST00000340177.5	-	3	1332	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	HRH3_ENST00000317393.6_Missense_Mutation_p.L350V	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	350					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TCCCGAGACAGCCGAAAGCGC	0.642000													7	9					0	0	0.001984	0	0
KLHL38	340359	broad.mit.edu	37	8	124659207	124659207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:124659207C>T	ENST00000325995.7	-	2	1421	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	466										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGTTCTTGATCATTCTTGTCT	0.463000													73	78					0	0	0.003610	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518560	113518560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:113518560C>T	ENST00000284601.3	-	4	2655	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	863					glycogen metabolic process	integral to membrane		p.D863Y(1)		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						AACTGTAAATCCAGTTTTGAA	0.378000													24	77					0	0	0.002780	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660862	233660862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:233660862G>A	ENST00000373566.3	+	15	1833	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	GIGYF2_ENST00000373563.4_Missense_Mutation_p.V524M|GIGYF2_ENST00000452341.2_Missense_Mutation_p.V355M|GIGYF2_ENST00000409451.3_Missense_Mutation_p.V545M|GIGYF2_ENST00000409480.1_Missense_Mutation_p.V546M|GIGYF2_ENST00000409547.1_Missense_Mutation_p.V524M|GIGYF2_ENST00000409196.3_Missense_Mutation_p.V518M			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	524	GYF.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTAAAGGAGTGTCGATTCC	0.408000													10	44					0	0	0.000978	0	0
PCK1	5105	broad.mit.edu	37	20	56136498	56136498	+	Missense_Mutation	SNP	C	C	T	rs146652385		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:56136498C>T	ENST00000319441.4	+	2	195	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	11					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CGGCCTGAACCTCTCGGCCAA	0.542000													34	54					0	0	0.002836	0	0
IL20	50604	broad.mit.edu	37	1	207039657	207039657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207039657G>A	ENST00000367098.1	+	3	536	c.173G>A	c.(172-174)gGa>gAa	p.G58E	IL20_ENST00000391930.2_Missense_Mutation_p.G58E|IL20_ENST00000367096.3_Missense_Mutation_p.G58E			Q9NYY1	IL20_HUMAN	interleukin 20	58					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)		GCCAAAGATGGAAACATTGAC	0.478000													20	50					0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179604360	179604360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179604360C>T	ENST00000589042.1	-	48	13824	c.13600G>A	c.(13600-13602)Gag>Aag	p.E4534K	TTN_ENST00000342175.6_Missense_Mutation_p.E4363K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4217K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4171K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4296K|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4217	Ig-like 25.						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)			TAACTGACCTCTTCAGTTGAG	0.383000													14	55					0	0	0.002450	0	0
MURC	347273	broad.mit.edu	37	9	103348047	103348047	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:103348047G>A	ENST00000307584.5	+	2	474	c.408_splice	c.e2-1	p.E137_splice		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	137					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TCTCCTTCAGGAGAAGTTTCG	0.428000													6	14					0	0	0.001984	0	0
DTNA	1837	broad.mit.edu	37	18	32398181	32398181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:32398181C>T	ENST00000283365.9	+	9	1114	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	DTNA_ENST00000595022.1_Missense_Mutation_p.R255C|DTNA_ENST00000598142.1_Missense_Mutation_p.R255C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000399121.5_Missense_Mutation_p.R255C|DTNA_ENST00000269191.6_Missense_Mutation_p.R255C|DTNA_ENST00000554864.3_Missense_Mutation_p.R255C|DTNA_ENST00000399113.3_Missense_Mutation_p.R255C|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.R255C|DTNA_ENST00000444659.1_Missense_Mutation_p.R255C|DTNA_ENST00000348997.5_Missense_Mutation_p.R255C|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000597599.1_Missense_Mutation_p.R255C|DTNA_ENST00000598774.1_Missense_Mutation_p.R255C|DTNA_ENST00000598334.1_Missense_Mutation_p.R255C|DTNA_ENST00000315456.6_Missense_Mutation_p.R255C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	255	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATGGGATTTCGCTACCGATG	0.468000													12	36					0	0	0.001855	0	0
EYA1	2138	broad.mit.edu	37	8	72267115	72267115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:72267115G>A	ENST00000340726.3	-	3	665	c.26C>T	c.(25-27)cCg>cTg	p.P9L	EYA1_ENST00000388742.4_Missense_Mutation_p.P9L|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.P9L|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.P9L|EYA1_ENST00000303824.7_Missense_Mutation_p.P9L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	9					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACGGCTATGCGGGCTGGTTAG	0.453000													54	83					0	0	0.003610	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057422	5057422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:5057422G>A	ENST00000251170.7	+	13	1687	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	503						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGAGCACACGGACCAGCTGTG	0.642000													13	11					0	0	0.002450	0	0
DNAH2	146754	broad.mit.edu	37	17	7727471	7727471	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7727471C>T	ENST00000572933.1	+	76	12971	c.11511C>T	c.(11509-11511)ctC>ctT	p.L3837L	DNAH2_ENST00000389173.2_Silent_p.L3837L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3837	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)				GATCCCCACTCGTGTTCATCC	0.617000													24	31					0	0	0.005443	0	0
DLG2	1740	broad.mit.edu	37	11	83170881	83170881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:83170881G>A	ENST00000398309.2	-	23	3063	c.2593C>T	c.(2593-2595)Ccc>Tcc	p.P865S	DLG2_ENST00000532653.1_Missense_Mutation_p.P847S|DLG2_ENST00000537455.1_Missense_Mutation_p.P615S|DLG2_ENST00000280241.8_Missense_Mutation_p.P904S|DLG2_ENST00000330014.6_Missense_Mutation_p.P786S|DLG2_ENST00000543673.1_Missense_Mutation_p.P970S|DLG2_ENST00000426717.2_Missense_Mutation_p.P329S|DLG2_ENST00000418306.2_Missense_Mutation_p.P744S|DLG2_ENST00000376104.2_Missense_Mutation_p.P970S|DLG2_ENST00000404783.3_Missense_Mutation_p.P343S|DLG2_ENST00000524982.1_Missense_Mutation_p.P861S|DLG2_ENST00000376106.3_Missense_Mutation_p.P329S	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	865						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCTTTGAGGGAATCCAGATG	0.358000													29	88					0	0	0.002096	0	0
NLRP12	91662	broad.mit.edu	37	19	54313568	54313568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54313568C>T	ENST00000324134.6	-	3	1513	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	NLRP12_ENST00000391772.1_Missense_Mutation_p.A449T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A449T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A449T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A449T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A449T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A449T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A449T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	449	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGCGCGGGGCCCCCGGCTTG	0.622000													10	34					0	0	0.000673	0	0
VTN	7448	broad.mit.edu	37	17	26696596	26696596	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:26696596T>C	ENST00000226218.4	-	3	1079	c.461A>G	c.(460-462)gAg>gGg	p.E154G	SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	154					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ACTGCACAGCTCCTCCTCTGC	0.632000													14	15					0	0	0.006122	0	0
ZFP57	346171	broad.mit.edu	37	6	29640526	29640526	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:29640526G>A	ENST00000376883.1	-	6	1713	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	ZFP57_ENST00000376881.3_Silent_p.G434G|ZFP57_ENST00000488757.1_Silent_p.G454G			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	370					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GATCCATAAGGCCCTCTTTCT	0.552000													13	50					0	0	0.004007	0	0
TACC2	10579	broad.mit.edu	37	10	123996969	123996969	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123996969C>T	ENST00000369005.1	+	17	8527	c.8187C>T	c.(8185-8187)atC>atT	p.I2729I	TACC2_ENST00000369004.3_Silent_p.I789I|TACC2_ENST00000358010.1_Silent_p.I875I|TACC2_ENST00000369000.1_Silent_p.I352I|TACC2_ENST00000368999.1_Silent_p.I819I|TACC2_ENST00000515273.1_Silent_p.I2656I|TACC2_ENST00000453444.2_Silent_p.I2656I|TACC2_ENST00000515603.1_Silent_p.I2607I|TACC2_ENST00000334433.3_Silent_p.I2729I|TACC2_ENST00000360561.3_Silent_p.I777I|TACC2_ENST00000513429.1_Silent_p.I875I|TACC2_ENST00000369001.1_Silent_p.I356I|TACC2_ENST00000260733.3_Silent_p.I807I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2729						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)				ACTCCCGCATCGGGACCGCTG	0.527000													20	20					0	0	0.001216	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44796724	44796724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44796724C>T	ENST00000309315.4	+	4	467	c.344C>T	c.(343-345)cCt>cTt	p.P115L	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P115L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P83L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P83L|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P115L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	115	Gly-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						GGGGGCTACCCTGGGGCCCCC	0.642000													8	5					0	0	0.003080	0	0
KIF12	113220	broad.mit.edu	37	9	116857371	116857371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:116857371C>T	ENST00000374118.3	-	8	874	c.637G>A	c.(637-639)Gag>Aag	p.E213K	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	346	Kinesin-motor.				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						CTGAGAGTCTCAGGAAGGCAC	0.647000													10	23					0	0	0.000443	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192468	132192468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:132192468G>A	ENST00000359827.3	-	2	1947	c.985C>T	c.(985-987)Cat>Tat	p.H329Y	PLXNA4_ENST00000423507.2_Missense_Mutation_p.H329Y|PLXNA4_ENST00000378539.5_Missense_Mutation_p.H329Y|PLXNA4_ENST00000321063.4_Missense_Mutation_p.H329Y			Q9HCM2	PLXA4_HUMAN	plexin A4	329	Sema.					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						TCATCTGGATGGACTCCAAGG	0.592000													21	25					0	0	0.001882	0	0
LLGL2	3993	broad.mit.edu	37	17	73569201	73569201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73569201C>T	ENST00000392550.3	+	20	2684	c.2567C>T	c.(2566-2568)gCc>gTc	p.A856V	LLGL2_ENST00000577200.1_Missense_Mutation_p.A856V|LLGL2_ENST00000167462.5_Missense_Mutation_p.A856V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	856					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTCGTCGAGCCGAGGACTAC	0.657000													20	15					0	0	0.001523	0	0
DNER	92737	broad.mit.edu	37	2	230282864	230282864	+	Silent	SNP	G	G	A	rs138648634		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:230282864G>A	ENST00000341772.4	-	9	1703	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	523	EGF-like 8; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCCATTAACGAGGTCCCTGC	0.522000													15	32					0	0	0.004007	0	0
UPB1	51733	broad.mit.edu	37	22	24916373	24916373	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:24916373C>T	ENST00000413389.2	+	7	2199	c.606C>T	c.(604-606)atC>atT	p.I202I	UPB1_ENST00000326010.5_Silent_p.I270I|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	270	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.I270I(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGTGGCCCATCGAGGCCAGAA	0.612000													7	13					0	0	0.004482	0	0
PAPOLG	64895	broad.mit.edu	37	2	61019308	61019308	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:61019308C>T	ENST00000238714.3	+	17	1812	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	521					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GACTTCAATCCAAAAGATTGT	0.423000													13	30					0	0	0.003163	0	0
SLC16A4	9122	broad.mit.edu	37	1	110923715	110923715	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110923715A>T	ENST00000369779.4	-	5	664	c.415T>A	c.(415-417)Tac>Aac	p.Y139N	SLC16A4_ENST00000369781.4_Missense_Mutation_p.Y139N|SLC16A4_ENST00000437429.2_Missense_Mutation_p.Y29N|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.Y77N|SLC16A4_ENST00000472422.2_Missense_Mutation_p.Y91N	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	139						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TTTTTGAAGTATTTGGTAGTT	0.388000													11	21					0	0	0.001368	0	0
GPR141	353345	broad.mit.edu	37	7	37780062	37780062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:37780062C>T	ENST00000447769.1	+	4	356	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	GPR141_ENST00000334425.1_Missense_Mutation_p.L23F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	23						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTAATCAGCCTCTACTTCAT	0.502000													53	65					0	0	0.003610	0	0
NEK1	4750	broad.mit.edu	37	4	170398377	170398377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:170398377C>T	ENST00000439128.2	-	24	2888	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	NEK1_ENST00000511633.1_Missense_Mutation_p.E734K|NEK1_ENST00000510533.1_Missense_Mutation_p.E706K|NEK1_ENST00000507142.1_Missense_Mutation_p.E778K|NEK1_ENST00000512193.1_Missense_Mutation_p.E681K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	750					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)		ACTGATTTTTCTTTTTCATGC	0.368000													4	10					0	0	0.000602	0	0
FAM71B	153745	broad.mit.edu	37	5	156589596	156589596	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:156589596G>A	ENST00000302938.4	-	2	1775	c.1680C>T	c.(1678-1680)atC>atT	p.I560I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	560						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTAGCCACGATATCTACCT	0.483000													152	333					0	0	0.003610	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769798	112769798	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112769798C>G	ENST00000390666.3	-	1	930	c.739G>C	c.(739-741)Gac>Cac	p.D247H	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	247	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TAGATGAGGTCCTTGCACTCG	0.602000													5	26					0	0	0.000602	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210582	30210582	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:30210582C>T	ENST00000518096.1	+	0	1194																											AGACAGCTGTCTGTGACATCC	0.517000													18	28					0	0	0.000958	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510224	41510224	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41510224C>T	ENST00000324071.4	+	3	364	c.357C>T	c.(355-357)aaC>aaT	p.N119N	CYP2B6_ENST00000593831.1_Silent_p.N43N|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.N79N	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	119					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCAATGGAAACCGCTGGAAGG	0.547000													4	18					0	0	0.000602	0	0
FGD2	221472	broad.mit.edu	37	6	36982748	36982748	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:36982748C>T	ENST00000274963.8	+	8	1134	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	321	PH 1.				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						ACACCCTGCTCCGTGAGGGCC	0.632000													6	30					0	0	0.001984	0	0
SLC12A1	6557	broad.mit.edu	37	15	48536965	48536965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:48536965G>A	ENST00000396577.3	+	11	1531	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	SLC12A1_ENST00000380993.3_Missense_Mutation_p.R439Q|SLC12A1_ENST00000558405.1_Missense_Mutation_p.R439Q	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	439					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGTGTGGTCCGAGATGCCACC	0.458000													6	29					0	0	0.001168	0	0
BTAF1	9044	broad.mit.edu	37	10	93773519	93773519	+	Silent	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:93773519A>C	ENST00000265990.6	+	31	4715	c.4407A>C	c.(4405-4407)atA>atC	p.I1469I	BTAF1_ENST00000544642.1_Silent_p.I297I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1469					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)				GTAAACCTATATTAGCAAGTA	0.388000													20	27					0	0	0.000958	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716332	19716332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:19716332C>T	ENST00000284885.3	-	11	1250	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	406	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGCCCCACTCGTTCTTGTCT	0.383000													71	73					0	0	0.003610	0	0
VANGL2	57216	broad.mit.edu	37	1	160389283	160389283	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160389283C>T	ENST00000368061.2	+	4	1158	c.684C>T	c.(682-684)ttC>ttT	p.F228F	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	228					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTTCTTTTCGTGCACTACC	0.647000													13	31					0	0	0.002450	0	0
CCDC170	80129	broad.mit.edu	37	6	151859312	151859312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:151859312G>A	ENST00000367290.5	+	3	408	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.E107K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	107																	CAGAGTTCAGGAACTAGAAGA	0.408000													27	19					0	0	0.005443	0	0
TSKU	25987	broad.mit.edu	37	11	76507464	76507464	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:76507464C>T	ENST00000527881.1	+	2	1830	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TSKU_ENST00000333090.4_Silent_p.N268N			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	268						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CCAAGCTTAACTGGGCAGGAG	0.667000													70	12					0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49754853	49754853	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:49754853C>T	ENST00000304801.3	-	1	200	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	16					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGACTCGCTTCCCTCTAACAT	0.408000													50	61					0	0	0.003610	0	0
MAP10	54627	broad.mit.edu	37	1	232942542	232942542	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:232942542G>A	ENST00000418460.1	+	1	1900	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAGCCAAGAAGGATAAGCGTT	0.413000													7	23					0	0	0.001984	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843293	22843293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22843293G>A	ENST00000360412.2	-	4	1206	c.431C>T	c.(430-432)cCt>cTt	p.P144L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.P144L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGTAATCAAAGGAGAAGGTAA	0.358000													23	95					0	0	0.002299	0	0
PIDD	55367	broad.mit.edu	37	11	802336	802336	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:802336G>A	ENST00000347755.5	-	6	1176	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PIDD_ENST00000411829.2_Silent_p.F345F	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	345	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CTCCCGCTGGGAACTGCAGGC	0.662000													5	23					0	0	0.001984	0	0
AFF3	3899	broad.mit.edu	37	2	100210263	100210263	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:100210263G>A	ENST00000317233.4	-	14	2095	c.1860C>T	c.(1858-1860)gtC>gtT	p.V620V	AFF3_ENST00000409579.1_Silent_p.V645V|AFF3_ENST00000409236.1_Silent_p.V620V|AFF3_ENST00000356421.2_Silent_p.V645V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	620					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTCCGGGGGGACCACCACGC	0.741000													7	23					0	0	0.004482	0	0
AIM1	202	broad.mit.edu	37	6	107003731	107003731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:107003731C>T	ENST00000369066.3	+	15	4937	c.4450C>T	c.(4450-4452)Ccg>Tcg	p.P1484S	AIM1_ENST00000535438.1_Missense_Mutation_p.P303S	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1484	Beta/gamma crystallin 'Greek key' 10.						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)		AATGGGATGCCCGCCTGGAGC	0.408000													49	50					0	0	0.003610	0	0
IARS	3376	broad.mit.edu	37	9	95021171	95021171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95021171G>A	ENST00000375643.3	-	19	2247	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	IARS_ENST00000447699.2_Missense_Mutation_p.R551C|IARS_ENST00000443024.2_Missense_Mutation_p.R661C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	661					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATTAAGAAGCGATAGGCATTG	0.537000													9	11					0	0	0.000443	0	0
ZNF516	9658	broad.mit.edu	37	18	74092172	74092172	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:74092172T>A	ENST00000443185.2	-	4	2215	c.1898A>T	c.(1897-1899)aAc>aTc	p.N633I	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTCCGAGGCGTTATCTCCCAT	0.562000													16	32					0	0	0.006122	0	0
FAM135B	51059	broad.mit.edu	37	8	139155261	139155261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139155261C>T	ENST00000395297.1	-	16	3802	c.3632G>A	c.(3631-3633)cGa>cAa	p.R1211Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211								p.R1211Q(2)		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)			TTACCTAATTCGGGATATGGA	0.393000										HNSCC(54;0.14)			15	19					0	0	0.004990	0	0
FKBP6	8468	broad.mit.edu	37	7	72743404	72743404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:72743404G>A	ENST00000252037.4	+	3	286	c.217G>A	c.(217-219)Gat>Aat	p.D73N	FKBP6_ENST00000413573.2_Intron|FKBP6_ENST00000431982.2_Missense_Mutation_p.D68N	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	73	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGACCCTTCGATTCTAATTA	0.433000													65	66					0	0	0.003610	0	0
TIE1	7075	broad.mit.edu	37	1	43785140	43785140	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:43785140C>A	ENST00000372476.3	+	19	3126	c.3047C>A	c.(3046-3048)cCt>cAt	p.P1016H	TIE1_ENST00000433781.2_Missense_Mutation_p.P661H|TIE1_ENST00000473014.1_3'UTR	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	1016	Protein kinase.				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)				GGGCGTCTCCCTGTGCGCTGG	0.597000													6	85					0.00198382	0.00338838	0.001984	1	0
DNAJB6	10049	broad.mit.edu	37	7	157155859	157155859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:157155859C>T	ENST00000262177.4	+	3	275	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	DNAJB6_ENST00000443280.1_Missense_Mutation_p.R24W|DNAJB6_ENST00000452797.2_Intron|DNAJB6_ENST00000429029.2_Missense_Mutation_p.R24W	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	24	Interaction with HSP70.|J.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCAAGATATCGGAAACTGGC	0.383000													12	9					0	0	0.000978	0	0
C1S	716	broad.mit.edu	37	12	7175788	7175788	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7175788C>T	ENST00000406697.1	+	14	1852	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	C1S_ENST00000360817.5_Silent_p.S408S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Silent_p.S241S|C1S_ENST00000328916.3_Silent_p.S408S			P09871	C1S_HUMAN	complement component 1, s subcomponent	408	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTAACGGGAGCTGGGTGAATG	0.582000													13	50					0	0	0.003163	0	0
OVCH2	341277	broad.mit.edu	37	11	7726217	7726217	+	RNA	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:7726217G>T	ENST00000454689.1	-	0	92				RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GCCCACAACTGGGAGCTGAGA	0.413000													4	16					0.00024832	0.000425783	0.000248	1	0
TGM1	7051	broad.mit.edu	37	14	24730980	24730980	+	Silent	SNP	G	G	A	rs144989372	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:24730980G>A	ENST00000206765.6	-	3	552	c.429C>T	c.(427-429)cgC>cgT	p.R143R	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	143			R -> C (in LI1 and NCIE).|R -> H (in LI1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AAGGCTGCCCGCGGCGCACTA	0.577000													40	35					0	0	0.005524	0	0
GSK3B	2932	broad.mit.edu	37	3	119634960	119634960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119634960C>T	ENST00000264235.8	-	5	1521	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	GSK3B_ENST00000316626.5_Missense_Mutation_p.R180Q	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	180	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	p.R180Q(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TTTAATATCCCGATGGCAGAT	0.403000													32	42					0	0	0.003271	0	0
SLC20A1	6574	broad.mit.edu	37	2	113405310	113405310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:113405310C>T	ENST00000272542.3	+	4	1095	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	186					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						ATTCATCCTCCATAAGGTAAC	0.433000													91	48					0	0	0.003610	0	0
APOA5	116519	broad.mit.edu	37	11	116661143	116661143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:116661143C>T	ENST00000542499.1	-	4	874	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	APOA5_ENST00000227665.4_Missense_Mutation_p.E268K	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	268					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCGGCCCCTTCCTCAGTCCCA	0.652000													64	3					0	0	0.003610	0	0
ABCB4	5244	broad.mit.edu	37	7	87069662	87069662	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:87069662G>A	ENST00000265723.4	-	13	1524	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	ABCB4_ENST00000358400.3_Silent_p.I471I|ABCB4_ENST00000545634.1_Silent_p.I471I|ABCB4_ENST00000453593.1_Silent_p.I471I|ABCB4_ENST00000359206.3_Silent_p.I471I	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	471	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			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)					CCACACCAATGATTTCCCTCA	0.353000													10	43					0	0	0.000443	0	0
POTEF	728378	broad.mit.edu	37	2	130832640	130832640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:130832640G>A	ENST00000357462.5	-	15	2498	c.2405C>T	c.(2404-2406)cCc>cTc	p.P802L	POTEF_ENST00000409914.2_Missense_Mutation_p.P802L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	802	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGCAGGACGGGGTGCTCCTC	0.582000													19	46					0	0	0.001523	0	0
EDARADD	128178	broad.mit.edu	37	1	236645793	236645793	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:236645793C>T	ENST00000359362.5	+	6	676	c.462C>T	c.(460-462)acC>acT	p.T154T	EDARADD_ENST00000334232.4_Silent_p.T164T	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	164	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGCCCCACCTTGGAGTTCT	0.572000													9	19					0	0	0.004482	0	0
OR2C1	4993	broad.mit.edu	37	16	3406326	3406326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3406326C>T	ENST00000304936.2	+	1	438	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGTGCCGGCCCCTCCGCTAC	0.607000													16	11					0	0	0.000958	0	0
MIRLET7F1	406888	broad.mit.edu	37	9	96938675	96938675	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:96938675C>T	ENST00000602703.1	+	0	93				MIRLET7F1_ENST00000362202.1_RNA																							GTGATTTTACCCTGTTCAGGA	0.338000													14	9					0	0	0.001855	0	0
LNX1	84708	broad.mit.edu	37	4	54362234	54362234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:54362234C>T	ENST00000306888.2	-	5	1269	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	LNX1_ENST00000263925.7_Missense_Mutation_p.D436N|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	436	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TATCGAAGATCATGTCCATTG	0.507000													12	63					0	0	0.000978	0	0
TP63	8626	broad.mit.edu	37	3	189612028	189612028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189612028C>T	ENST00000264731.3	+	14	1869	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	TP63_ENST00000354600.5_Nonsense_Mutation_p.R500*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R509*|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Nonsense_Mutation_p.R496*|TP63_ENST00000440651.2_Nonsense_Mutation_p.R590*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R415*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	594	SAM.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R594*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAGCAATTTCGACATGCGAT	0.532000										HNSCC(45;0.13)			25	18					0	0	0.003954	0	0
ARAP2	116984	broad.mit.edu	37	4	36214080	36214080	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:36214080G>A	ENST00000303965.4	-	5	1560	c.1071C>T	c.(1069-1071)acC>acT	p.T357T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	357					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTCTCCCTGGGTCAAAAATT	0.333000													6	34					0	0	0.003080	0	0
STAB1	23166	broad.mit.edu	37	3	52551111	52551111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:52551111G>A	ENST00000321725.6	+	42	4551	c.4475G>A	c.(4474-4476)gGg>gAg	p.G1492E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1492	EGF-like 11.				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)		ATGGGCGACGGGGAGCTGTGC	0.622000													8	21					0	0	0.004482	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106757778C>T	ENST00000390611.2	-	0	252																											TAGGATTTTTCGTCATTCGAA	0.532000													41	44					0	0	0.001485	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011956	160011956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160011956G>A	ENST00000368089.3	-	2	593	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	123						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGATTCAAGGGAGAAGAGG	0.577000													9	38					0	0	0.000443	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	116					0	0	0.000602	0	0
INO80	54617	broad.mit.edu	37	15	41348837	41348837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:41348837G>A	ENST00000361937.3	-	17	2477	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q685*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	685	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				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						ATGGTGTTCTGAATTGGGGTC	0.423000													87	113					0	0	0.003610	0	0
OR8H1	219469	broad.mit.edu	37	11	56058353	56058353	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:56058353G>A	ENST00000313022.2	-	1	213	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGTGAGTAAGGAAAAAATACA	0.403000													40	98					0	0	0.002522	0	0
KCNA6	3742	broad.mit.edu	37	12	4920380	4920380	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:4920380C>T	ENST00000433855.1	+	1	2039	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	KCNA6_ENST00000280684.3_Silent_p.S391S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	391						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						TCCTCTTCTCCAGTGCCGTCT	0.572000										HNSCC(72;0.22)			24	27					0	0	0.001512	0	0
SCGN	10590	broad.mit.edu	37	6	25689431	25689431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25689431C>T	ENST00000377961.2	+	8	727	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	187						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCCTTCTCCAATTTAAAAT	0.368000													12	82					0	0	0.002450	0	0
PEG3	5178	broad.mit.edu	37	19	57328838	57328838	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57328838G>A	ENST00000326441.9	-	10	1335	c.972C>T	c.(970-972)cgC>cgT	p.R324R	PEG3_ENST00000598410.1_Silent_p.R200R|PEG3_ENST00000593695.1_Silent_p.R198R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R324R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	324					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTTGGAACTGCGTGACACAT	0.473000													40	15					0	0	0.001485	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500758	27500758	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:27500758A>T	ENST00000296097.3	+	4	668	c.250A>T	c.(250-252)Ata>Tta	p.I84L	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.I68L|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.I84L	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	84	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCATGCCATACTGAGCGA	0.453000													17	32					0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13870977	13870977	+	Missense_Mutation	SNP	G	G	A	rs149609746		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:13870977G>A	ENST00000265104.4	-	24	3837	c.3733C>T	c.(3733-3735)Cgt>Tgt	p.R1245C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1245	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATTGGACGATTTAGTTTC	0.393000									Kartagener syndrome				17	29					0	0	0.004990	0	0
BIRC6	57448	broad.mit.edu	37	2	32724828	32724828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32724828G>A	ENST00000421745.2	+	46	8817	c.8683G>A	c.(8683-8685)Gga>Aga	p.G2895R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2895					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)					ATGCTTTGGGGGACTCTTTGC	0.418000													46	89					0	0	0.003610	0	0
ADD1	118	broad.mit.edu	37	4	2877717	2877717	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:2877717C>T	ENST00000355842.3	+	3	938	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ADD1_ENST00000398125.1_Silent_p.F25F|ADD1_ENST00000503455.2_Silent_p.F25F|ADD1_ENST00000446856.1_Silent_p.F25F|ADD1_ENST00000398123.2_Silent_p.F25F|ADD1_ENST00000398129.1_Silent_p.F25F|ADD1_ENST00000264758.7_Silent_p.F25F|ADD1_ENST00000513328.2_Silent_p.F25F			P35611	ADDA_HUMAN	adducin 1 (alpha)	25					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGGTACTTCGACCGAGTAG	0.522000													34	62					0	0	0.003271	0	0
FOXF1	2294	broad.mit.edu	37	16	86544757	86544757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:86544757G>A	ENST00000262426.4	+	1	625	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	194					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCTGGGCATGATGAACGGCC	0.711000													7	5					0	0	0.001984	0	0
SCN10A	6336	broad.mit.edu	37	3	38770293	38770293	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:38770293G>A	ENST00000449082.2	-	15	2379	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	794					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)	ATGATGGCCAGGATGATGGTG	0.517000													21	55					0	0	0.002299	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:148080748G>A	ENST00000361727.3	+	22	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_ENST00000538075.1_Silent_p.G220G|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1161	Laminin G-like 4.				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)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)			26	28					0	0	0.005443	0	0
PYHIN1	149628	broad.mit.edu	37	1	158909032	158909032	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158909032A>G	ENST00000368140.1	+	4	819	c.574A>G	c.(574-576)Act>Gct	p.T192A	PYHIN1_ENST00000368135.4_Missense_Mutation_p.T192A|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T183A|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T192A|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T183A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	192					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CACTTCCTCAACTGAGGTACA	0.498000													16	66					0	0	0.001216	0	0
PHKG2	5261	broad.mit.edu	37	16	30764754	30764754	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30764754C>T	ENST00000563588.1	+	6	671	c.432C>T	c.(430-432)ctC>ctT	p.L144L	PHKG2_ENST00000424889.3_Silent_p.L144L|PHKG2_ENST00000328273.7_Silent_p.L144L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	144	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TGAGCTTTCTCCATGCCAACA	0.562000													17	16					0	0	0.004990	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142162	133142162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:133142162C>T	ENST00000388996.4	-	15	2386	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E644K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E536K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	656					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E656K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTAATACTCCGTGACCTGC	0.498000													23	64					0	0	0.003330	0	0
CNTN3	5067	broad.mit.edu	37	3	74535700	74535700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:74535700G>A	ENST00000263665.6	-	3	292	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	89	Ig-like C2-type 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)		TTTCTGTTGGGATTAATAACC	0.358000													29	31					0	0	0.001271	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170117	207170117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:207170117C>T	ENST00000374423.3	+	5	1251	c.865C>T	c.(865-867)Cat>Tat	p.H289Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	289							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						CTTGAAATTCCATGAACGCAT	0.358000													20	7					0	0	0.001523	0	0
OTOL1	131149	broad.mit.edu	37	3	161220122	161220122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:161220122G>A	ENST00000327928.4	+	3	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	161	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGGGACCAAGGAGTTCCAGGA	0.418000													4	18					0	0	0.000248	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568245	131568245	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:131568245C>T	ENST00000372648.5	+	10	1176	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	TBC1D13_ENST00000223865.8_Silent_p.F217F|TBC1D13_ENST00000539497.1_Silent_p.F161F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	342	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACTCCCTCTTCGCCGATGACA	0.582000													7	22					0	0	0.004482	0	0
MAML2	84441	broad.mit.edu	37	11	95826426	95826426	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:95826426G>A	ENST00000524717.1	-	2	2053	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	257					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATGTTAAACAGGCCATTGCCA	0.478000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								11	29					0	0	0.000673	0	0
PRKCA	5578	broad.mit.edu	37	17	64637512	64637512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:64637512G>A	ENST00000413366.3	+	4	354	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	110					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CCACACTTACGGAAGCCCCAC	0.438000													39	94					0	0	0.003214	0	0
FAM104A	84923	broad.mit.edu	37	17	71223334	71223334	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:71223334G>A	ENST00000405159.3	-	2	355	c.291C>T	c.(289-291)aaC>aaT	p.N97N	FAM104A_ENST00000403627.3_Silent_p.N97N|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	97	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GAAAGACAGGGTTTCTGCTAC	0.413000													39	62					0	0	0.003610	0	0
UBTD2	92181	broad.mit.edu	37	5	171638903	171638903	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:171638903G>A	ENST00000393792.2	-	3	1041	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	212	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTCCTTTGGGATCTTCAGCT	0.517000													19	32					0	0	0.006122	0	0
BTN1A1	696	broad.mit.edu	37	6	26509300	26509300	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26509300G>A	ENST00000244513.6	+	7	1545	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	493						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						ACCTTTCTAAGGAGATCCCAT	0.547000													40	32					0	0	0.001951	0	0
NFASC	23114	broad.mit.edu	37	1	204926913	204926913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:204926913C>T	ENST00000367172.4	+	8	993	c.665C>T	c.(664-666)aCc>aTc	p.T222I	NFASC_ENST00000404076.1_Missense_Mutation_p.T216I|NFASC_ENST00000360049.4_Missense_Mutation_p.T216I|NFASC_ENST00000338586.6_Missense_Mutation_p.T222I|NFASC_ENST00000403080.1_Missense_Mutation_p.T222I|NFASC_ENST00000404907.1_Missense_Mutation_p.T216I|NFASC_ENST00000339876.6_Missense_Mutation_p.T222I|NFASC_ENST00000367170.4_Missense_Mutation_p.T222I|NFASC_ENST00000367169.4_Missense_Mutation_p.T222I|NFASC_ENST00000338515.6_Missense_Mutation_p.T222I|NFASC_ENST00000401399.1_Missense_Mutation_p.T222I|NFASC_ENST00000367171.4_Missense_Mutation_p.T222I|NFASC_ENST00000539706.1_Missense_Mutation_p.T216I|NFASC_ENST00000513543.1_Missense_Mutation_p.T216I			O94856	NFASC_HUMAN	neurofascin	222	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTCACCCACACCATCCAGCAG	0.567000													10	54					0	0	0.000673	0	0
TAB2	23118	broad.mit.edu	37	6	149699616	149699616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:149699616C>T	ENST00000367456.1	+	4	1142	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C	TAB2_ENST00000286332.5_Missense_Mutation_p.R189C|TAB2_ENST00000536230.1_Missense_Mutation_p.R157C|TAB2_ENST00000392282.1_Missense_Mutation_p.R189C|TAB2_ENST00000538427.1_Missense_Mutation_p.R189C			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	189					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|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 NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAGACTGGTCGTAATACTCC	0.408000													30	30					0	0	0.001512	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350700	79350700	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:79350700G>A	ENST00000419573.3	-	3	781	c.507C>T	c.(505-507)atC>atT	p.I169I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I169I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	169					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						GCTCGATCTCGATCTCCCCAT	0.602000													36	22					0	0	0.001951	0	0
AGBL2	79841	broad.mit.edu	37	11	47713758	47713758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:47713758C>T	ENST00000525123.1	-	9	1030	c.745G>A	c.(745-747)Gga>Aga	p.G249R	AGBL2_ENST00000357610.3_Missense_Mutation_p.G249R|AGBL2_ENST00000528244.1_Missense_Mutation_p.G211R|AGBL2_ENST00000298861.4_Missense_Mutation_p.G249R|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	249					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTGACAATTCCTCGTTTGCCT	0.423000													36	2					0	0	0.004878	0	0
RP1	6101	broad.mit.edu	37	8	55540061	55540061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:55540061G>A	ENST00000220676.1	+	4	3767	c.3619G>A	c.(3619-3621)Gat>Aat	p.D1207N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1207					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTCCAATAGATCTTTCTGC	0.428000													42	47					0	0	0.001287	0	0
DNAH9	1770	broad.mit.edu	37	17	11572944	11572944	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:11572944C>T	ENST00000262442.3	+	17	3254	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	DNAH9_ENST00000454412.2_Silent_p.I1062I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1062	Stem (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)		AAGTGCAAATCGACTCCTATG	0.483000													25	87					0	0	0.005443	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107113998	107113998	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:107113998G>A	ENST00000454421.2	-	0	173																											CCCCCAGGCTGGACCAAGCCT	0.577000													7	115					0	0	0.004482	0	0
PTGS1	5742	broad.mit.edu	37	9	125145992	125145992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125145992G>A	ENST00000362012.2	+	8	972	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	PTGS1_ENST00000223423.4_Missense_Mutation_p.G323S|PTGS1_ENST00000373698.5_Missense_Mutation_p.G214S|PTGS1_ENST00000540753.1_Missense_Mutation_p.G298S	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	323					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCCCACCTGGGGCGATGAGCA	0.597000													11	27					0	0	0.000978	0	0
SLC14A1	6563	broad.mit.edu	37	18	43328349	43328349	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:43328349A>C	ENST00000321925.4	+	9	1187	c.955A>C	c.(955-957)Acg>Ccg	p.T319P	SLC14A1_ENST00000502059.2_Missense_Mutation_p.T211P|SLC14A1_ENST00000591541.1_Missense_Mutation_p.T23P|SLC14A1_ENST00000535474.1_Missense_Mutation_p.T187P|SLC14A1_ENST00000589700.1_Silent_p.S269S|SLC14A1_ENST00000402943.2_Missense_Mutation_p.T214P|SLC14A1_ENST00000586142.1_Missense_Mutation_p.T319P|SLC14A1_ENST00000415427.3_Missense_Mutation_p.T375P|SLC14A1_ENST00000436407.3_Missense_Mutation_p.T375P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	319			T -> M (in Jk(null)).			integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCCCTGTTCACGGCCTATCT	0.418000													31	69					0	0	0.003271	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228860	57228860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:57228860C>T	ENST00000396721.2	-	2	177	c.47G>A	c.(46-48)gGa>gAa	p.G16E	SDR16C5_ENST00000522671.1_Missense_Mutation_p.G16E|SDR16C5_ENST00000303749.3_Missense_Mutation_p.G16E			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	16					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAGTGATTTTCCTAAGAAAAT	0.418000													24	22					0	0	0.001271	0	0
CELF5	60680	broad.mit.edu	37	19	3290302	3290302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:3290302C>T	ENST00000541430.2	+	11	1180	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	CELF5_ENST00000292672.2_Silent_p.F420F	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	0					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGCAGATGTTCCTACCCTTCG	0.557000													26	37					0	0	0.005443	0	0
PEG3	5178	broad.mit.edu	37	19	57335843	57335843	+	Silent	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57335843G>T	ENST00000326441.9	-	4	544	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	PEG3_ENST00000598410.1_Intron|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R61R|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	61	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGTCTTCCGAGGCCCAACA	0.507000													26	20					2.4375e-19	4.23439e-19	0.001271	1	0
TOX2	84969	broad.mit.edu	37	20	42697299	42697299	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:42697299C>T	ENST00000358131.5	+	8	1648	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	TOX2_ENST00000423191.1_Silent_p.P456P|TOX2_ENST00000435864.2_Silent_p.P376P|TOX2_ENST00000341197.3_Silent_p.P498P|TOX2_ENST00000372999.1_Silent_p.P456P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTGCTCCCCAGGGACAAAT	0.627000													11	15					0	0	0.001368	0	0
FCGRT	2217	broad.mit.edu	37	19	50029284	50029284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:50029284C>T	ENST00000221466.5	+	7	1492	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	FCGRT_ENST00000596975.1_Missense_Mutation_p.R244C|FCGRT_ENST00000426395.3_Missense_Mutation_p.R336C|FCGRT_ENST00000599988.1_Missense_Mutation_p.R70C	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	336					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GATCTCCCTTCGTGGAGACGA	0.597000													30	87					0	0	0.002836	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642289	111642289	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:111642289G>A	ENST00000502935.1	-	10	1061	c.942C>T	c.(940-942)atC>atT	p.I314I	XPNPEP1_ENST00000369683.1_Silent_p.I200I|XPNPEP1_ENST00000322238.8_Silent_p.I314I|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Silent_p.I271I			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	271					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GCTCGCTCAGGATGGACTTGT	0.582000													12	36					0	0	0.001368	0	0
GZMA	3001	broad.mit.edu	37	5	54405901	54405901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:54405901C>T	ENST00000274306.6	+	5	715	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	227	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGGGTCACTTCCTTTGGCCTT	0.483000													16	37					0	0	0.004007	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616367	121616367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121616367G>A	ENST00000489711.1	+	3	714	c.326G>A	c.(325-327)gGa>gAa	p.G109E	SLC15A2_ENST00000295605.2_Missense_Mutation_p.G109E	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	109					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCGTGGTTGGGAAAATTCAAG	0.458000													34	36					0	0	0.002445	0	0
KANSL2	54934	broad.mit.edu	37	12	49072876	49072876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:49072876C>T	ENST00000550347.1	-	3	1080	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000420613.2_Missense_Mutation_p.R163K|KANSL2_ENST00000553086.1_Missense_Mutation_p.R163K			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	163																	AGGGTCACCTCTCCATGTCTG	0.468000													8	17					0	0	0.000443	0	0
GABRB2	2561	broad.mit.edu	37	5	160753374	160753374	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:160753374C>T	ENST00000274547.2	-	10	1409		c.e10+1		GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000393959.1_Splice_Site|GABRB2_ENST00000520240.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCTATCTAACCGTATACAGA	0.393000													8	21					0	0	0.003080	0	0
LHX9	56956	broad.mit.edu	37	1	197898140	197898140	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197898140C>T	ENST00000367390.3	+	6	945	c.918C>T	c.(916-918)ttC>ttT	p.F306F	LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367387.4_Silent_p.F315F	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	315					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGGTTTGGTTCCAAAACGCAC	0.438000													10	27					0	0	0.001368	0	0
OR5D14	219436	broad.mit.edu	37	11	55563485	55563485	+	Missense_Mutation	SNP	C	C	T	rs138241507		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:55563485C>T	ENST00000335605.1	+	1	454	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGGGTCATATCTCTGGGGCAT	0.498000													43	10					0	0	0.001706	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617456	28617456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28617456C>T	ENST00000395609.1	-	9	1454	c.696G>A	c.(694-696)atG>atA	p.M232I	SULT1A1_ENST00000350842.4_Missense_Mutation_p.M154I|SULT1A1_ENST00000395607.1_Missense_Mutation_p.M232I|SULT1A1_ENST00000314752.7_Missense_Mutation_p.M232I|SULT1A1_ENST00000569554.1_Missense_Mutation_p.M232I			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	232					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTTCTTCTTCATCTCCTTGA	0.567000													15	83					0	0	0.004990	0	0
LIFR	3977	broad.mit.edu	37	5	38504110	38504110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:38504110C>T	ENST00000263409.4	-	10	1567	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	LIFR_ENST00000453190.2_Missense_Mutation_p.E469K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	469	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCTTAATTTCAATTTCACAT	0.289000			T	PLAG1	salivary adenoma								22	69					0	0	0.001882	0	0
DCLK3	85443	broad.mit.edu	37	3	36779057	36779057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:36779057C>T	ENST00000416516.2	-	2	1584	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	365	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCAAAGTTCCCATCCCCAAT	0.572000													10	48					0	0	0.000978	0	0
COMT	1312	broad.mit.edu	37	22	19951781	19951781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:19951781C>T	ENST00000361682.6	+	5	956	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	COMT_ENST00000449653.1_Missense_Mutation_p.H142Y|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000407537.1_Missense_Mutation_p.H142Y|COMT_ENST00000406520.3_Missense_Mutation_p.H192Y|COMT_ENST00000403710.1_Missense_Mutation_p.H192Y|COMT_ENST00000403184.1_Missense_Mutation_p.H192Y	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	192					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTTCCTCGACCACTGGAAGGA	0.592000													8	27					0	0	0.004482	0	0
SYT17	51760	broad.mit.edu	37	16	19236122	19236122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:19236122C>T	ENST00000562034.1	+	5	4805	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	SYT17_ENST00000568115.1_Missense_Mutation_p.P336L|SYT17_ENST00000355377.2_Missense_Mutation_p.P397L|SYT17_ENST00000568433.1_Missense_Mutation_p.P91L|SYT17_ENST00000562711.2_Missense_Mutation_p.P393L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	397	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTCAAAGTTCCCCAAGAAGAA	0.453000													27	49					0	0	0.001271	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113588	55113588	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55113588C>T	ENST00000370862.3	+	2	711	c.375C>T	c.(373-375)tcC>tcT	p.S125S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	125					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGACAGTCCCTTTGCAAAG	0.423000													20	123					0	0	0.001882	0	0
TCF7L2	6934	broad.mit.edu	37	10	114905797	114905797	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:114905797G>A	ENST00000545257.1	+	8	1323	c.816G>A	c.(814-816)acG>acA	p.T272T	TCF7L2_ENST00000369395.1_Silent_p.T297T|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355995.4_Silent_p.T272T|TCF7L2_ENST00000536810.1_Silent_p.T272T|TCF7L2_ENST00000534894.1_Silent_p.T272T|TCF7L2_ENST00000352065.5_Silent_p.T249T|TCF7L2_ENST00000538897.1_Silent_p.T272T|TCF7L2_ENST00000543371.1_Silent_p.T272T|TCF7L2_ENST00000349937.2_Silent_p.T268T|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369397.4_Silent_p.T249T|TCF7L2_ENST00000355717.4_Silent_p.T296T			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	272	Mediates interaction with MAD2L2.|Pro-rich.				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)		ACCCAATCACGACAGGAGGAT	0.517000			T	VTI1A	colorectal								120	184					0	0	0.003610	0	0
UNC5B	219699	broad.mit.edu	37	10	73051457	73051457	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:73051457C>T	ENST00000335350.6	+	10	1979	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	UNC5B_ENST00000373192.4_Silent_p.F510F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	521					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCCACTTCCTGCACCTGC	0.697000													5	15					0	0	0.001168	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686645	108686645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:108686645G>A	ENST00000312143.7	-	3	458	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CMKLR1_ENST00000550402.1_Missense_Mutation_p.S32F|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S32F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S30F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S30F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	32					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTCCAAGGGGGATAAGTCCTC	0.488000													9	17					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113841920	113841920	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:113841920G>A	ENST00000297405.5	-	12	2098	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	CSMD3_ENST00000352409.3_Silent_p.L618L|CSMD3_ENST00000455883.2_Silent_p.L514L|CSMD3_ENST00000343508.3_Silent_p.L578L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	618	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTACACTTGGAGCACTGTCC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	18					0	0	0.000978	0	0
DISC1	27185	broad.mit.edu	37	1	231906692	231906692	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:231906692C>T	ENST00000439617.2	+	6	1563	c.1510C>T	c.(1510-1512)Ctg>Ttg	p.L504L	DISC1_ENST00000602873.1_Silent_p.L154L|DISC1_ENST00000366633.3_Silent_p.L504L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Silent_p.L504L|DISC1_ENST00000366636.4_Silent_p.L504L|DISC1_ENST00000602281.1_Silent_p.L504L|DISC1_ENST00000537876.1_Silent_p.L504L|DISC1_ENST00000539444.1_Silent_p.L504L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	504	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGCTGCGACCTGACCCCACT	0.592000													16	20					0	0	0.003163	0	0
MYD88	4615	broad.mit.edu	37	3	38182680	38182680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:38182680C>T	ENST00000417037.2	+	5	1041	c.857C>T	c.(856-858)cCc>cTc	p.P286L	MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.P233L|MYD88_ENST00000495303.1_3'UTR|MYD88_ENST00000396334.3_Missense_Mutation_p.P278L|MYD88_ENST00000443433.2_3'UTR	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	265	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGAGTTCCCCAGCATCCTG	0.567000			Mis		ABC-DLBCL								29	38					0	0	0.001061	0	0
XAGE3	170626	broad.mit.edu	37	X	52896099	52896099	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:52896099C>T	ENST00000346279.3	-	2	136	c.66G>A	c.(64-66)ctG>ctA	p.L22L	XAGE3_ENST00000375491.3_Silent_p.L22L	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	22										kidney(1)|large_intestine(1)|lung(2)	4						TAGGCCCAATCAGCTCAGGAG	0.393000													41	38					0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156821680	156821680	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156821680C>T	ENST00000368195.3	-	3	1337	c.941_splice	c.e3+1	p.S314_splice	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	314					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)					CTACACTCACCTGCTGCTATT	0.647000													3	11					0	0	0.000248	0	0
TCL1A	8115	broad.mit.edu	37	14	96180341	96180341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:96180341C>T	ENST00000402399.1	-	1	192	c.63G>A	c.(61-63)tgG>tgA	p.W21*	RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Nonsense_Mutation_p.W21*|TCL1A_ENST00000555202.1_Nonsense_Mutation_p.W21*|TCL1A_ENST00000554012.1_Nonsense_Mutation_p.W21*	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	21					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGAACTTCTCCCAGGCCCACA	0.657000			T	TRA@	T-CLL								29	50					0	0	0.001786	0	0
CLCA4	22802	broad.mit.edu	37	1	87045096	87045096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:87045096G>A	ENST00000370563.3	+	13	2224	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	728						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GACCACCTTGGAGGATTTCAG	0.468000													14	26					0	0	0.002450	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668462	176668462	+	Silent	SNP	G	G	A	rs147497362	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:176668462G>A	ENST00000367662.3	+	8	4137	c.2973G>A	c.(2971-2973)aaG>aaA	p.K991K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	991					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAAACAAGGAGTCAGTGC	0.547000													70	68					0	0	0.003610	0	0
GSK3B	2932	broad.mit.edu	37	3	119634959	119634959	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119634959C>T	ENST00000264235.8	-	5	1522	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GSK3B_ENST00000316626.5_Silent_p.R180R	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	180	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTTTAATATCCCGATGGCAGA	0.408000													32	45					0	0	0.003271	0	0
KIF26B	55083	broad.mit.edu	37	1	245850440	245850440	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:245850440C>T	ENST00000366518.4	+	9	3116	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	KIF26B_ENST00000407071.2_Silent_p.I1385I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1385					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGGGTACATCCCCATGAAGA	0.582000													3	10					0	0	0.000602	0	0
TLR4	7099	broad.mit.edu	37	9	120475240	120475240	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:120475240G>A	ENST00000355622.6	+	3	935	c.834G>A	c.(832-834)gaG>gaA	p.E278E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.E238E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	278					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						CTGCTCTAGAGGGCCTGTGCA	0.363000													51	54					0	0	0.003610	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351178	134351178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:134351178C>T	ENST00000357304.4	+	15	3717	c.3662C>T	c.(3661-3663)tCc>tTc	p.S1221F	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1221							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACCTTCGTCTCCAAAGAGTCA	0.617000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	12					0	0	0.004482	0	0
ALLC	55821	broad.mit.edu	37	2	3750044	3750044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:3750044G>A	ENST00000252505.3	+	12	1229	c.1067G>A	c.(1066-1068)gGg>gAg	p.G356E		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	375							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTCCCCGACGGGGGAGTGAGC	0.592000										HNSCC(21;0.051)			5	8					0	0	0.000602	0	0
DRD1	1812	broad.mit.edu	37	5	174868954	174868954	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:174868954C>T	ENST00000393752.2	-	2	2141	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	383					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATTGCACTCCTTGGAGATGG	0.537000													43	23					0	0	0.002222	0	0
STK36	27148	broad.mit.edu	37	2	219540914	219540914	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219540914C>T	ENST00000295709.3	+	6	876	c.597C>T	c.(595-597)ccC>ccT	p.P199P	STK36_ENST00000440309.1_Silent_p.P199P|STK36_ENST00000392106.2_Silent_p.P199P|STK36_ENST00000392105.3_Silent_p.P199P	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	199	Protein kinase.				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)		GCACCCCTCCCTTCTATGCTA	0.522000													16	43					0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21239422	21239422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:21239422C>T	ENST00000233242.1	-	21	3348	c.3221G>A	c.(3220-3222)gGa>gAa	p.G1074E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1074					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)	GAGGATTGTTCCGAGGTCAAC	0.448000													117	222					0	0	0.003610	0	0
PCK1	5105	broad.mit.edu	37	20	56137213	56137213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:56137213C>T	ENST00000319441.4	+	3	475	c.311C>T	c.(310-312)cCc>cTc	p.P104L	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	104					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GACACAGTGCCCATCCCCAAA	0.542000													23	23					0	0	0.002299	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421195	62421195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:62421195G>A	ENST00000245663.4	-	2	1066	c.916C>T	c.(916-918)Ccg>Tcg	p.P306S	ZBTB46_ENST00000395104.1_Missense_Mutation_p.P306S|ZBTB46_ENST00000480766.1_5'UTR|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P306S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCTGAACGGCCACCCCGAC	0.642000													41	33					0	0	0.003610	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999641	46999641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:46999641G>A	ENST00000374314.4	+	1	1716	c.761G>A	c.(760-762)gGg>gAg	p.G254E	GPRIN2_ENST00000374317.1_Missense_Mutation_p.G254E			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	254										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCTGCCACAGGGATCCTGGCC	0.627000													4	37					0	0	0.000602	0	0
RAVER1	125950	broad.mit.edu	37	19	10433941	10433941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10433941G>A	ENST00000293677.6	-	5	1090	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	320	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCTTCCCCCGATTGAGGGCC	0.672000													10	13					0	0	0.000673	0	0
RYR2	6262	broad.mit.edu	37	1	237880614	237880614	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:237880614C>T	ENST00000366574.2	+	72	10757	c.10440C>T	c.(10438-10440)atC>atT	p.I3480I	RYR2_ENST00000542537.1_Silent_p.I3464I|RYR2_ENST00000360064.6_Silent_p.I3478I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3480					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTGAACATCTGTGCCCCTG	0.498000													13	12					0	0	0.003163	0	0
CLASP1	23332	broad.mit.edu	37	2	122217648	122217648	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:122217648G>A	ENST00000263710.4	-	12	1475	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	CLASP1_ENST00000541377.1_Silent_p.F362F|CLASP1_ENST00000397587.3_Silent_p.F362F|CLASP1_ENST00000409078.3_Silent_p.F362F|CLASP1_ENST00000455322.2_Silent_p.F362F|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Silent_p.F131F|CLASP1_ENST00000545861.1_Silent_p.F130F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	362					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATGTTGAAAGAAGTTATCAT	0.403000													16	38					0	0	0.006122	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692922	187692922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:187692922C>T	ENST00000295131.2	-	9	1730	c.1691G>A	c.(1690-1692)aGa>aAa	p.R564K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	564					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTGTCCTCTCTTATTTTAGT	0.378000													13	22					0	0	0.001855	0	0
LRRK2	120892	broad.mit.edu	37	12	40745535	40745535	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:40745535G>A	ENST00000298910.7	+	44	6634	c.6576_splice	c.e44+1	p.E2192_splice		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2192					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACACTTCTGAGGTAAATCCAA	0.363000													9	18					0	0	0.000978	0	0
EXPH5	23086	broad.mit.edu	37	11	108381835	108381835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:108381835G>A	ENST00000265843.4	-	6	4509	c.4399C>T	c.(4399-4401)Cac>Tac	p.H1467Y	EXPH5_ENST00000443411.1_Missense_Mutation_p.H1279Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.H1460Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1391Y	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1467					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTGGATGTGTGATCTTTCTGG	0.458000													12	1					0	0	0.000978	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344403	38344403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38344403C>T	ENST00000374618.3	+	5	1529	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	ZNF33A_ENST00000307441.9_Missense_Mutation_p.R450C|ZNF33A_ENST00000458705.2_Missense_Mutation_p.R450C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R457C|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAAATCCTTCCGTGTGACTTC	0.413000													17	30					0	0	0.001523	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883571	58883571	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:58883571C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						acctgcttttcacctgtgatc	0.552000													12	33					0	0	0.001855	0	0
HHAT	55733	broad.mit.edu	37	1	210761285	210761285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:210761285G>A	ENST00000367010.1	+	10	1314	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R	HHAT_ENST00000391905.3_Missense_Mutation_p.G363R|HHAT_ENST00000541565.1_Missense_Mutation_p.G226R|HHAT_ENST00000537898.1_Missense_Mutation_p.G298R|HHAT_ENST00000308852.6_Missense_Mutation_p.G318R|HHAT_ENST00000545781.1_Missense_Mutation_p.G300R|HHAT_ENST00000261458.3_Missense_Mutation_p.G363R|HHAT_ENST00000367009.1_Missense_Mutation_p.G53R|HHAT_ENST00000413764.2_Missense_Mutation_p.G363R|HHAT_ENST00000545154.1_Missense_Mutation_p.G364R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	363					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)		TGGCCTGCTGGGGACACTGTT	0.557000													19	28					0	0	0.001882	0	0
RNF152	220441	broad.mit.edu	37	18	59483373	59483373	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:59483373C>T	ENST00000312828.3	-	2	1423	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	108					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCGCACGCTCCTTGGAGATGG	0.627000													9	13					0	0	0.000673	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602940	37602940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:37602940G>A	ENST00000399151.3	+	14	1943	c.1858G>A	c.(1858-1860)Ggc>Agc	p.G620S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	620					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGGAAGAAGGGCGGGAGCAT	0.537000													30	51					0	0	0.001786	0	0
PLIN1	5346	broad.mit.edu	37	15	90210242	90210242	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:90210242C>T	ENST00000300055.5	-	8	1299	c.1134G>A	c.(1132-1134)ggG>ggA	p.G378G	PLIN1_ENST00000430628.2_Silent_p.G378G	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	378					triglyceride catabolic process	lipid particle	lipid binding	p.G378G(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						ACATGGCCCTCCCCTTGGTTG	0.612000													5	19					0	0	0.000602	0	0
STK36	27148	broad.mit.edu	37	2	219564066	219564066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219564066C>T	ENST00000295709.3	+	26	4078	c.3799C>T	c.(3799-3801)Cat>Tat	p.H1267Y	STK36_ENST00000440309.1_Missense_Mutation_p.H1267Y|STK36_ENST00000392106.2_Missense_Mutation_p.H1246Y|STK36_ENST00000392105.3_Missense_Mutation_p.H1246Y	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1267					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)		GCCTGGCATCCATCAGGTATA	0.527000													15	33					0	0	0.004007	0	0
SLC27A2	11001	broad.mit.edu	37	15	50474704	50474704	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:50474704T>A	ENST00000267842.5	+	1	312	c.80T>A	c.(79-81)tTc>tAc	p.F27Y	SLC27A2_ENST00000380902.4_Missense_Mutation_p.F27Y	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	27					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)		CCATACTTCTTCCAGGACATA	0.662000													6	12					0	0	0.003080	0	0
UBE2U	148581	broad.mit.edu	37	1	64672498	64672498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:64672498C>T	ENST00000371077.4	+	3	624	c.200C>T	c.(199-201)cCt>cTt	p.P67L	UBE2U_ENST00000371076.3_Missense_Mutation_p.P67L			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	67							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AACTATGCTCCTCCAGTTGTG	0.299000													13	28					0	0	0.004007	0	0
CCDC176	80127	broad.mit.edu	37	14	74500775	74500775	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:74500775C>T	ENST00000394009.3	+	4	519	c.396C>T	c.(394-396)ttC>ttT	p.F132F	CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		AGGGACAGTTCCATCAAAAAG	0.378000													11	24					0	0	0.002450	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033958	52033958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52033958C>T	ENST00000346477.3	-	3	751	c.683G>A	c.(682-684)aGa>aAa	p.R228K	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R192K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R228K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R217K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	228	Ig-like C2-type 1.				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)		CTGGATGGTTCTCTCCATGGT	0.632000													26	15					0	0	0.001061	0	0
HHIP	64399	broad.mit.edu	37	4	145579946	145579946	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:145579946C>T	ENST00000296575.3	+	3	1132	c.477C>T	c.(475-477)ttC>ttT	p.F159F	HHIP_ENST00000434550.2_Silent_p.F159F|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	159						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTAAAGGTTTCCTTCAAACAA	0.343000													21	80					0	0	0.001882	0	0
TECTA	7007	broad.mit.edu	37	11	121008498	121008498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:121008498G>A	ENST00000392793.1	+	11	3581	c.3310G>A	c.(3310-3312)Ggc>Agc	p.G1104S	TECTA_ENST00000264037.2_Missense_Mutation_p.G1104S			O75443	TECTA_HUMAN	tectorin alpha	1104	VWFD 3.				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)		CATCGTCTCAGGCTACGGCCA	0.587000													5	6					0	0	0.000602	0	0
ASAP3	55616	broad.mit.edu	37	1	23768694	23768694	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23768694A>G	ENST00000336689.3	-	7	700	c.656T>C	c.(655-657)tTc>tCc	p.F219S	ASAP3_ENST00000437606.2_Missense_Mutation_p.F210S	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	219					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CTGGGCGTGGAAGAACTTGAT	0.547000													5	3					0	0	0.000602	0	0
IRX6	79190	broad.mit.edu	37	16	55361546	55361546	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55361546C>T	ENST00000290552.7	+	4	1794	c.462C>T	c.(460-462)acC>acT	p.T154T	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	154						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGAACGCGACCCGGGAGACCA	0.567000													7	19					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36898642	36898642	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:36898642C>T	ENST00000429976.2	-	12	2686	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	TRANK1_ENST00000428977.2_Silent_p.K263K|TRANK1_ENST00000301807.6_Silent_p.K263K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	813					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGATGATTTTCTTCTTGATGA	0.507000													72	105					0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248391	43248391	+	Missense_Mutation	SNP	G	G	A	rs148964498	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:43248391G>A	ENST00000255226.6	+	15	2801	c.1985G>A	c.(1984-1986)gGt>gAt	p.G662D	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G139D|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G662D	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	662						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGACAAAGGTGACTACTAC	0.547000													13	23					0	0	0.001855	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27535070	27535070	+	RNA	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:27535070T>C	ENST00000574842.1	+	0	255																											TCTGTTGGGGTTTCGCTGTCC	0.522000													4	14					0	0	0.000602	0	0
PPM1F	9647	broad.mit.edu	37	22	22277752	22277752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22277752C>T	ENST00000407142.1	-	6	1634	c.574G>A	c.(574-576)Gat>Aat	p.D192N	PPM1F_ENST00000263212.5_Missense_Mutation_p.D360N|PPM1F_ENST00000538191.1_Missense_Mutation_p.D256N			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	360					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)		AAGAAGCCATCACAGGCAAGC	0.647000													6	19					0	0	0.003080	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55715321G>A	ENST00000379668.2	+	1	976	c.938G>A	c.(937-939)tGa>tAa	p.*313*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000													7	17					0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	89948162	89948162	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:89948162G>A	ENST00000405460.2	+	19	3512		c.e19-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						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)		TTATTTTGTAGGATTTTGAGG	0.343000													29	67					0	0	0.001271	0	0
ASAP3	55616	broad.mit.edu	37	1	23768693	23768693	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23768693G>A	ENST00000336689.3	-	7	701	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ASAP3_ENST00000437606.2_Silent_p.F210F	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	219					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCTGGGCGTGGAAGAACTTGA	0.547000													5	3					0	0	0.000602	0	0
CFH	3075	broad.mit.edu	37	1	196646648	196646648	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:196646648T>G	ENST00000367429.4	+	5	710	c.470T>G	c.(469-471)aTt>aGt	p.I157S	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Missense_Mutation_p.I157S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	157	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGGAAAAATTGTCAGTAGT	0.353000													29	26					0	0	0.001512	0	0
ZNF71	58491	broad.mit.edu	37	19	57132752	57132752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57132752C>T	ENST00000328070.6	+	3	331	c.97C>T	c.(97-99)Cct>Tct	p.P33S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCCAGGGGTCCTGGCTCAGA	0.587000													7	18					0	0	0.001984	0	0
ABCB4	5244	broad.mit.edu	37	7	87082419	87082419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:87082419C>T	ENST00000265723.4	-	6	488	c.377G>A	c.(376-378)gGa>gAa	p.G126E	ABCB4_ENST00000358400.3_Missense_Mutation_p.G126E|ABCB4_ENST00000545634.1_Missense_Mutation_p.G126E|ABCB4_ENST00000453593.1_Missense_Mutation_p.G126E|ABCB4_ENST00000359206.3_Missense_Mutation_p.G126E	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	126	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			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)					AACAAGAACTCCAGCACCCAA	0.353000													26	40					0	0	0.001512	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365775	7365775	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7365775G>A	ENST00000311403.4	-	4	2865	c.2526C>T	c.(2524-2526)tcC>tcT	p.S842S	ZBTB4_ENST00000380599.4_Silent_p.S842S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGCGGTCTCGGAAGCTTCCT	0.617000													13	9					0	0	0.001855	0	0
XIST	7503	broad.mit.edu	37	X	73066500	73066500	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:73066500G>A	ENST00000429829.1	-	0	6088					NR_001564.2																						TGCTGGAAGGGAAAAGTGGGG	0.473000													8	18					0	0	0.004482	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1963203	1963203	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:1963203C>T	ENST00000382722.5	-	23	2522	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	CACNA2D4_ENST00000585708.1_Silent_p.E656E|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000588077.1_Silent_p.E656E|CACNA2D4_ENST00000586184.1_Silent_p.E720E|CACNA2D4_ENST00000587995.1_Silent_p.E695E|CACNA2D4_ENST00000585732.1_Silent_p.E581E	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	720						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGACCAGCTCCTCGTCACCTG	0.572000													4	12					0	0	0.000248	0	0
COG8	84342	broad.mit.edu	37	16	69368747	69368747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:69368747G>A	ENST00000306875.4	-	3	1204	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	COG8_ENST00000562081.1_Missense_Mutation_p.R364W	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	364					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AACTGACCCCGGAAATCAGCT	0.557000													25	21					0	0	0.003330	0	0
COL9A1	1297	broad.mit.edu	37	6	70964882	70964882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:70964882G>A	ENST00000357250.6	-	23	1740	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	COL9A1_ENST00000320755.7_Missense_Mutation_p.P285S|COL9A1_ENST00000370499.4_Missense_Mutation_p.P285S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	528	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGAGACCAGGAATTCCTCTA	0.433000													29	112					0	0	0.002096	0	0
CDH12	1010	broad.mit.edu	37	5	21842363	21842363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:21842363C>T	ENST00000382254.1	-	8	1807	c.721G>A	c.(721-723)Gat>Aat	p.D241N	CDH12_ENST00000522262.1_Missense_Mutation_p.D201N|CDH12_ENST00000504376.2_Missense_Mutation_p.D241N|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTCCCATATCCTTGGCTTGG	0.413000										HNSCC(59;0.17)			31	22					0	0	0.002836	0	0
OR4N2	390429	broad.mit.edu	37	14	20295843	20295843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20295843C>T	ENST00000568211.1	+	1	236	c.236C>T	c.(235-237)cCc>cTc	p.P79L	OR4N2_ENST00000315947.1_Missense_Mutation_p.P79L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTGTGGCTCCCCGGATGTTG	0.517000													36	195					0	0	0.001706	0	0
CMYA5	202333	broad.mit.edu	37	5	79029225	79029225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:79029225C>T	ENST00000446378.2	+	2	4668	c.4637C>T	c.(4636-4638)tCa>tTa	p.S1546L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1546						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAACTTCCTTCATCACAAAAT	0.418000													30	44					0	0	0.001271	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396503	136396503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136396503C>T	ENST00000264160.4	+	14	1400	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	R3HDM1_ENST00000409478.1_Missense_Mutation_p.H300Y|R3HDM1_ENST00000409606.1_Missense_Mutation_p.H344Y|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H288Y|R3HDM1_ENST00000329971.3_Missense_Mutation_p.H300Y|R3HDM1_ENST00000443537.2_3'UTR	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	344							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAAATAGCCATCAAAGCAG	0.398000													32	72					0	0	0.002445	0	0
PLK2	10769	broad.mit.edu	37	5	57753147	57753147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:57753147C>T	ENST00000274289.3	-	7	1169	c.869G>A	c.(868-870)aGg>aAg	p.R290K	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	290	Protein kinase.				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)		CCTTATGCACCTATAAGTTTC	0.433000													9	17					0	0	0.000443	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:71293630G>A	ENST00000398530.1	-	1	291	c.254C>T	c.(253-255)tCc>tTc	p.S85F	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGCAGTTGGACTGGGAGCA	0.622000													35	58					0	0	0.002445	0	0
NEK2	4751	broad.mit.edu	37	1	211847012	211847012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:211847012G>A	ENST00000366999.4	-	3	506	c.368C>T	c.(367-369)gCc>gTc	p.A123V	NEK2_ENST00000366998.3_Missense_Mutation_p.A123V|NEK2_ENST00000540251.1_Missense_Mutation_p.A80V	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	123	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCCTTCAGGGCCAGAGTCAA	0.418000													33	29					0	0	0.003271	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296630	28296630	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:28296630G>A	ENST00000284987.5	-	8	2656	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	845	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCTATAACGGACATCTAATG	0.468000													48	61					0	0	0.003610	0	0
MACROD2	140733	broad.mit.edu	37	20	15210628	15210628	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:15210628A>T	ENST00000402914.1	+	0	218				MACROD2_ENST00000217246.4_Missense_Mutation_p.N154I|MACROD2_ENST00000310348.4_Missense_Mutation_p.N154I	NM_001033087.1	NP_001028259.1	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2											breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGCCATATTAATGGTTCCCAC	0.358000													12	29					0	0	0.002450	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466663	96466663	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:96466663G>A	ENST00000285979.6	+	5	964	c.765G>A	c.(763-765)ctG>ctA	p.L255L	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_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)		AAGAATCCCTGGACATGAACA	0.338000													7	43					0	0	0.000443	0	0
MGA	23269	broad.mit.edu	37	15	42000030	42000030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42000030C>T	ENST00000219905.7	+	6	2474	c.2293C>T	c.(2293-2295)Ctt>Ttt	p.L765F	MGA_ENST00000566586.1_Missense_Mutation_p.L765F|MGA_ENST00000570161.1_Missense_Mutation_p.L765F|MGA_ENST00000545763.1_Missense_Mutation_p.L765F|MGA_ENST00000389936.4_Missense_Mutation_p.L765F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	765						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)		TTTTTGGAACCTTACAGGAAC	0.363000													9	52					0	0	0.000978	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407056	47407056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:47407056C>T	ENST00000310638.4	-	1	81	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.G17E|CYP4A11_ENST00000371905.1_Missense_Mutation_p.G17E|CYP4A11_ENST00000457840.2_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	17					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTGGAGGATTCCAGAGACATC	0.592000													13	41					0	0	0.003163	0	0
KHDC1	80759	broad.mit.edu	37	6	73951846	73951846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:73951846C>T	ENST00000423730.3	-	3	662	c.227G>A	c.(226-228)aGg>aAg	p.R76K	KHDC1_ENST00000370384.3_Missense_Mutation_p.R149K|KHDC1_ENST00000257765.5_Missense_Mutation_p.R76K																							CTGCCTTGCCCTGTGTGGTCC	0.532000													9	14					0	0	0.000443	0	0
PCDH10	57575	broad.mit.edu	37	4	134073511	134073511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:134073511G>A	ENST00000264360.4	+	1	3042	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	739					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCCGTGCGTTGCCAAAAA	0.597000													12	36					0	0	0.004990	0	0
NOTCH2	4853	broad.mit.edu	37	1	120469123	120469123	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120469123G>T	ENST00000256646.2	-	24	4223	c.4005_splice	c.e24+1	p.P1335_splice		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1335	EGF-like 34.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACTTACCGGGGGACAACG	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				26	2464					0.00244969	0.0041805	0.002450	1	0
FAM104A	84923	broad.mit.edu	37	17	71223333	71223333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:71223333G>A	ENST00000405159.3	-	2	356	c.292C>T	c.(292-294)Cct>Tct	p.P98S	FAM104A_ENST00000403627.3_Missense_Mutation_p.P98S|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	98	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TGAAAGACAGGGTTTCTGCTA	0.413000													40	59					0	0	0.003610	0	0
TTBK1	84630	broad.mit.edu	37	6	43251542	43251542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43251542G>A	ENST00000259750.4	+	14	3147	c.3064G>A	c.(3064-3066)Gac>Aac	p.D1022N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1022						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCCTTGCAGACGGGCCAGC	0.677000													6	39					0	0	0.001168	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723892	140723892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140723892C>T	ENST00000253812.6	+	1	292	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGCGCTCAGATCCCGCT	0.453000													20	12					0	0	0.001216	0	0
DOCK9	23348	broad.mit.edu	37	13	99607748	99607748	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:99607748T>C	ENST00000376460.1	-	2	264	c.184A>G	c.(184-186)Act>Gct	p.T62A	DOCK9_ENST00000448493.2_Missense_Mutation_p.T74A|DOCK9_ENST00000339416.2_Missense_Mutation_p.T63A|DOCK9_ENST00000442173.1_Missense_Mutation_p.T62A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	63					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGATCTGAGTCTTCTTCTGG	0.438000													7	7					0	0	0.003080	0	0
CDH12	1010	broad.mit.edu	37	5	21842364	21842364	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:21842364C>T	ENST00000382254.1	-	8	1806	c.720G>A	c.(718-720)aaG>aaA	p.K240K	CDH12_ENST00000522262.1_Silent_p.K200K|CDH12_ENST00000504376.2_Silent_p.K240K|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTCCCATATCCTTGGCTTGGA	0.408000										HNSCC(59;0.17)			33	22					0	0	0.003271	0	0
GPS1	2873	broad.mit.edu	37	17	80013902	80013902	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80013902T>C	ENST00000392358.2	+	8	1329	c.980T>C	c.(979-981)aTc>aCc	p.I327T	GPS1_ENST00000578552.1_Missense_Mutation_p.I287T|GPS1_ENST00000306823.6_Missense_Mutation_p.I291T|GPS1_ENST00000355130.2_Missense_Mutation_p.I327T|GPS1_ENST00000320548.4_Missense_Mutation_p.I271T	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	291	PCI.				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)			AACGTGGCCATCTACGGTGGC	0.662000													7	12					0	0	0.003080	0	0
LACTB	114294	broad.mit.edu	37	15	63433670	63433670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:63433670C>T	ENST00000261893.4	+	6	1382	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	437						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TACCTCAAACCAGAAACAATG	0.423000													13	43					0	0	0.002450	0	0
ALPK1	80216	broad.mit.edu	37	4	113346895	113346895	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:113346895C>T	ENST00000458497.1	+	7	889	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	ALPK1_ENST00000177648.9_Silent_p.L204L|ALPK1_ENST00000504176.2_Silent_p.L126L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	204							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGGCAGATTCTGCAAAAGCT	0.413000													29	77					0	0	0.001512	0	0
PIPOX	51268	broad.mit.edu	37	17	27380467	27380467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27380467G>A	ENST00000323372.4	+	4	840	c.514G>A	c.(514-516)Gga>Aga	p.G172R	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	172					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	AGTGCGTGACGGAGAGAAGGT	0.527000													15	42					0	0	0.003163	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134174	233134174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:233134174C>T	ENST00000258229.8	-	32	5848	c.5614G>A	c.(5614-5616)Gat>Aat	p.D1872N	PCNXL2_ENST00000344698.2_Missense_Mutation_p.D524N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1872						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCATTGCAATCCTTCCGCATC	0.587000													18	23					0	0	0.001882	0	0
EXOC4	60412	broad.mit.edu	37	7	133602416	133602416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:133602416C>T	ENST00000253861.4	+	13	1981	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	EXOC4_ENST00000545148.1_Missense_Mutation_p.S261F|EXOC4_ENST00000539845.1_Missense_Mutation_p.S550F|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	651					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTCTTGAAATCTCTACCAAAC	0.403000													30	36					0	0	0.001512	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	49					0	0	0.000602	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442121	103442121	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:103442121C>T	ENST00000361246.2	-	11	1695	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	469					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGTGGAGGGACTGCACGGTCT	0.577000													24	108					0	0	0.001512	0	0
SNRPA	6626	broad.mit.edu	37	19	41265428	41265428	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41265428C>T	ENST00000243563.3	+	3	889	c.339C>T	c.(337-339)ccC>ccT	p.P113P	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	113						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGGAAGCCCAAGAGCCAGG	0.627000													9	30					0	0	0.000443	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47118857	47118857	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:47118857C>T	ENST00000290341.3	+	8	1270	c.936C>T	c.(934-936)atC>atT	p.I312I	IGF2BP1_ENST00000431824.2_Silent_p.I173I	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	312	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export.				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						AAATCACCATCTCCTCGTAAG	0.463000													17	19					0	0	0.006122	0	0
XDH	7498	broad.mit.edu	37	2	31573069	31573069	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:31573069G>A	ENST00000379416.3	-	25	2700	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	884					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTCCATGTGGAATAAAGCTC	0.507000													20	34					0	0	0.003330	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789038	67789038	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:67789038C>A	ENST00000539229.1	+	8	760	c.644C>A	c.(643-645)cCt>cAt	p.P215H	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.P179H|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.P215H	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	216					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GGCAAGAACCCTTGCTACGTG	0.642000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	47					7.73544e-29	1.34674e-28	0.003610	1	0
TANC2	26115	broad.mit.edu	37	17	61396398	61396398	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61396398A>G	ENST00000424789.2	+	9	1304	c.1300A>G	c.(1300-1302)Act>Gct	p.T434A	TANC2_ENST00000389520.4_Missense_Mutation_p.T434A|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	434							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTGCCCAGGAACTCCGGAAAT	0.502000													11	28					0	0	0.000673	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966960	7966960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7966960C>T	ENST00000543909.1	-	16	2274	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	SLC2A14_ENST00000542505.1_Missense_Mutation_p.M146I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.M482I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.M396I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.M396I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.M520I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.M505I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.M482I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	505					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)		TGTTCATCCCCATGACGCCGT	0.572000													22	46					0	0	0.001512	0	0
KCTD20	222658	broad.mit.edu	37	6	36449397	36449397	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:36449397C>T	ENST00000373731.2	+	6	1108	c.717C>T	c.(715-717)ctC>ctT	p.L239L	KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000536244.1_Silent_p.L94L|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000449081.2_Silent_p.L73L	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	239						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						ATCACTACCTCGAAGAGCTCA	0.478000													44	39					0	0	0.003610	0	0
CR1	1378	broad.mit.edu	37	1	207741343	207741343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:207741343G>A	ENST00000367049.4	+	25	4127	c.4127G>A	c.(4126-4128)gGg>gAg	p.G1376E	CR1_ENST00000367053.1_Missense_Mutation_p.G926E|CR1_ENST00000367051.1_Missense_Mutation_p.G926E|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.G926E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	926	Sushi 21.				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						GACCCTCAAGGGAATGGGGTT	0.547000													26	38					0	0	0.004289	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718232	2718232	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:2718232G>A	ENST00000320876.6	+	18	2675	c.2338_splice	c.e18+1	p.M779_splice	SMCHD1_ENST00000261598.8_Splice_Site_p.M779_splice|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	779					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTAAAAAAATGGGTGAGTTCT	0.284000													14	24					0	0	0.004007	0	0
ALG6	29929	broad.mit.edu	37	1	63872018	63872018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:63872018C>T	ENST00000371108.4	+	6	682	c.377C>T	c.(376-378)cCt>cTt	p.P126L	ALG6_ENST00000263440.4_Missense_Mutation_p.P126L	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	126					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.P126R(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATTTACATACCTGCAGTGGTT	0.363000													12	42					0	0	0.004007	0	0
FOXJ2	55810	broad.mit.edu	37	12	8202203	8202203	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:8202203C>T	ENST00000428177.2	+	9	2061	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L	FOXJ2_ENST00000162391.3_Intron			Q9P0K8	FOXJ2_HUMAN	forkhead box J2	0					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GAGGTGGAGACTATGTTGAAA	0.498000													8	3					0	0	0.003080	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585390	1585390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:1585390C>T	ENST00000279477.7	-	3	813	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	SIRPB1_ENST00000568365.1_Missense_Mutation_p.R250Q|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	250					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						TCCTCTACCTCGGATGGTCTC	0.622000													13	30					0	0	0.003163	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442523	37442523	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:37442523G>A	ENST00000374660.1	+	13	1662	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q	ANKRD30A_ENST00000602533.1_Silent_p.Q521Q|ANKRD30A_ENST00000361713.1_Silent_p.Q521Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGTTTCACAGAAGGATGTGT	0.279000													37	207					0	0	0.003610	0	0
THRAP3	9967	broad.mit.edu	37	1	36748237	36748237	+	Missense_Mutation	SNP	C	C	T	rs147227162	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36748237C>T	ENST00000354618.5	+	3	297	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R25C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	25	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)				ATCTCGTTCTCGTTCATTTTC	0.443000			T	USP6	aneurysmal bone cysts								20	16					0	0	0.001216	0	0
FCGBP	8857	broad.mit.edu	37	19	40420098	40420098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40420098C>T	ENST00000221347.6	-	6	2903	c.2896G>A	c.(2896-2898)Ggc>Agc	p.G966S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	966	VWFD 2.					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)			GCATCCCTGCCCTGTCGGAAC	0.602000													7	25					0	0	0.004482	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650953	61650953	+	Missense_Mutation	SNP	G	G	A	rs146695124	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61650953G>A	ENST00000397985.2	+	5	821	c.565G>A	c.(565-567)Gag>Aag	p.E189K	SERPINB8_ENST00000397988.3_Missense_Mutation_p.E189K|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E7K|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E189K	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	189					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TAAAACCAACGAGGTAGGGAA	0.343000													8	41					0	0	0.004482	0	0
ADD2	119	broad.mit.edu	37	2	70906069	70906069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:70906069G>A	ENST00000264436.3	-	11	1594	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	ADD2_ENST00000407644.2_Missense_Mutation_p.R384C|ADD2_ENST00000430656.1_Missense_Mutation_p.R400C|ADD2_ENST00000355733.3_Missense_Mutation_p.R384C|ADD2_ENST00000413157.2_Missense_Mutation_p.R384C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	384					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.R384G(2)|p.R400G(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGGGTGGCGATACGTGTAA	0.498000													18	44					0	0	0.001882	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916248	9916248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:9916248G>A	ENST00000396573.2	-	11	2350	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.R524*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.R681*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	681					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	p.R681*(1)		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)	GTCCCAAATCGAAAAGGTGGG	0.448000													19	35					0	0	0.000958	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802181	24802181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:24802181C>T	ENST00000395799.3	+	6	2347	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P740S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	740	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				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)		AGAAACATCACCTAGAGGGGA	0.473000													9	19					0	0	0.004482	0	0
CACNG5	27091	broad.mit.edu	37	17	64873459	64873459	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:64873459C>T	ENST00000533854.1	+	2	246	c.9C>T	c.(7-9)gcC>gcT	p.A3A	CACNG5_ENST00000307139.3_Silent_p.A3A|CACNG5_ENST00000169565.3_Silent_p.A3A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	3					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGATGAGTGCCTGCGGGAGGA	0.637000													21	14					0	0	0.002780	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315295	154315295	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154315295C>T	ENST00000368489.3	+	15	1410	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	456					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGACTTCTCCTTCAATCCTC	0.557000													15	63					0	0	0.004990	0	0
NRK	203447	broad.mit.edu	37	X	105184003	105184003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:105184003G>A	ENST00000428173.2	+	23	4243	c.3940G>A	c.(3940-3942)Ggc>Agc	p.G1314S	NRK_ENST00000243300.9_Missense_Mutation_p.G1313S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1313	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAAGTTAACAGGCTGTGAACA	0.363000										HNSCC(51;0.14)			6	0					0	0	0.001168	0	0
ABHD12	26090	broad.mit.edu	37	20	25282881	25282881	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:25282881C>T	ENST00000339157.5	-	12	1403	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	ABHD12_ENST00000376542.3_Silent_p.K377K	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	377						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GCTCAGGGCTCTTGTAAATGT	0.532000													18	25					0	0	0.001216	0	0
GPR112	139378	broad.mit.edu	37	X	135432151	135432151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135432151G>A	ENST00000394143.1	+	6	6577	c.6286G>A	c.(6286-6288)Gat>Aat	p.D2096N	GPR112_ENST00000412101.1_Missense_Mutation_p.D1891N|GPR112_ENST00000394141.1_Missense_Mutation_p.D1891N|GPR112_ENST00000370652.1_Missense_Mutation_p.D2096N|GPR112_ENST00000287534.4_Missense_Mutation_p.D2033N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2096					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAATGTCACAGATGACATTGT	0.473000													27	16					0	0	0.001512	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169579	33169579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:33169579C>T	ENST00000374677.3	+	2	842	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	SLC39A7_ENST00000374675.3_Missense_Mutation_p.P157S	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	157						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTCCTTATCCCCGTGGAGTC	0.547000													36	39					0	0	0.002836	0	0
MIR206	406989	broad.mit.edu	37	6	52009185	52009185	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:52009185G>A	ENST00000384872.1	+	0	39					NR_029713.1																						ATCCCCATATGGATTACTTTG	0.532000													17	40					0	0	0.001216	0	0
ADAM28	10863	broad.mit.edu	37	8	24170965	24170965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:24170965G>A	ENST00000265769.4	+	6	558	c.448G>A	c.(448-450)Gga>Aga	p.G150R	ADAM28_ENST00000540823.1_Intron|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.G150R|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	150					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACATCGGGATGGACAGGAGCA	0.448000													15	45					0	0	0.002450	0	0
SLIT3	6586	broad.mit.edu	37	5	168222552	168222552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:168222552G>A	ENST00000519560.1	-	10	1386	c.967C>T	c.(967-969)Cct>Tct	p.P323S	SLIT3_ENST00000332966.8_Missense_Mutation_p.P323S|SLIT3_ENST00000404867.3_Missense_Mutation_p.P323S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	323					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCTGCAGGGATGGCTTTG	0.483000													18	46					0	0	0.001216	0	0
CDH19	28513	broad.mit.edu	37	18	64235912	64235912	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:64235912G>A	ENST00000262150.2	-	3	523	c.231C>T	c.(229-231)ttC>ttT	p.F77F	CDH19_ENST00000540086.1_Silent_p.F77F	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	77	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTTGTACTGGAAAGAATTGT	0.373000													16	30					0	0	0.003163	0	0
TAF4	6874	broad.mit.edu	37	20	60575634	60575634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:60575634G>A	ENST00000252996.3	-	10	2629	c.2630C>T	c.(2629-2631)cCt>cTt	p.P877L	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	877					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTCTGCAAAGGCGCTTGGAG	0.463000													28	38					0	0	0.001512	0	0
MARK2	2011	broad.mit.edu	37	11	63667508	63667508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:63667508G>A	ENST00000402010.2	+	8	1273	c.694G>A	c.(694-696)Gat>Aat	p.D232N	MARK2_ENST00000377810.3_Missense_Mutation_p.D199N|MARK2_ENST00000361128.5_Missense_Mutation_p.D232N|MARK2_ENST00000502399.3_Missense_Mutation_p.D232N|MARK2_ENST00000377809.4_Missense_Mutation_p.D232N|MARK2_ENST00000413835.2_Missense_Mutation_p.D232N|MARK2_ENST00000508192.1_Missense_Mutation_p.D232N|MARK2_ENST00000513765.2_Missense_Mutation_p.D199N|MARK2_ENST00000425897.2_Missense_Mutation_p.D199N|MARK2_ENST00000350490.7_Missense_Mutation_p.D232N|MARK2_ENST00000509502.2_Missense_Mutation_p.D199N|MARK2_ENST00000315032.8_Missense_Mutation_p.D232N|MARK2_ENST00000408948.3_Missense_Mutation_p.D199N	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	232	Protein kinase.				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						ACCCGAGGTGGATGTGTGGAG	0.498000													40	61					0	0	0.001287	0	0
ANK3	288	broad.mit.edu	37	10	61828521	61828521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:61828521C>T	ENST00000280772.1	-	37	12309	c.12118G>A	c.(12118-12120)Gag>Aag	p.E4040K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4040					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						CGGGAAGTCTCGGACAACGAC	0.488000													26	76					0	0	0.005443	0	0
GUCY2C	2984	broad.mit.edu	37	12	14796605	14796605	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:14796605G>A	ENST00000261170.3	-	17	1969	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	611	Protein kinase.				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						GACGACCATGGACTTCTGTCT	0.388000													47	46					0	0	0.003610	0	0
OR2G2	81470	broad.mit.edu	37	1	247752097	247752097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247752097G>A	ENST00000320065.1	+	1	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCTGCATGGCCTTGGCATC	0.567000													56	61					0	0	0.003610	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469535	35469535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:35469535G>A	ENST00000381151.3	+	2	2550	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	680						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCTGATGGAAGAGGAGGCTGT	0.413000													234	234					0	0	0.003610	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626282	140626282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140626282G>A	ENST00000231173.3	+	1	1136	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		379	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAAAATGGAAAAATGATT	0.438000													10	17					0	0	0.000673	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858434	27858434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:27858434G>A	ENST00000359303.2	-	1	136	c.137C>T	c.(136-138)aCc>aTc	p.T46I	HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	46					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CAAGGCCACGGTGCCTGGCCT	0.632000													10	54					0	0	0.000673	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758648	62758648	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:62758648G>A	ENST00000331425.6	-	0	229					NR_003952.1																						CCTCACCCAGGGAGACCAAGT	0.353000													26	39					0	0	0.002836	0	0
ZNF536	9745	broad.mit.edu	37	19	31039973	31039973	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:31039973C>T	ENST00000355537.3	+	4	3594	c.3447C>T	c.(3445-3447)atC>atT	p.I1149I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCCTGATCCCCGAAACCA	0.552000													22	18					0	0	0.002299	0	0
C3orf17	25871	broad.mit.edu	37	3	112732175	112732175	+	Silent	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:112732175A>C	ENST00000314400.5	-	4	608	c.417T>G	c.(415-417)gtT>gtG	p.V139V	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_Silent_p.V3V	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	139						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGGCTCCCAAAACCTTCATCA	0.398000													29	43					0	0	0.001786	0	0
MUC5B	727897	broad.mit.edu	37	11	1263664	1263664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1263664G>A	ENST00000447027.1	+	31	5621	c.5563G>A	c.(5563-5565)Gag>Aag	p.E1855K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.E1852K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1852	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCAGCCTGGAGACGGGGCT	0.587000													11	23					0	0	0.000978	0	0
AP3D1	8943	broad.mit.edu	37	19	2114268	2114268	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:2114268C>T	ENST00000355272.6	-	22	2663	c.2457G>A	c.(2455-2457)caG>caA	p.Q819Q	AP3D1_ENST00000345016.5_Silent_p.Q819Q|AP3D1_ENST00000356926.4_Silent_p.Q728Q|AP3D1_ENST00000350812.6_Silent_p.Q650Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	819					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TTCTGTGTTTCTGAATAGGCA	0.512000													6	14					0	0	0.001984	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480249	96480249	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:96480249C>T	ENST00000285979.6	+	6	1115	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.L247L	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)		GAGCACCACTCTGAGATATGG	0.448000													19	36					0	0	0.001882	0	0
KDM2B	84678	broad.mit.edu	37	12	121878617	121878617	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:121878617A>C	ENST00000377069.4	-	20	3810		c.e20+1		KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Splice_Site|KDM2B_ENST00000542973.1_Splice_Site	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						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						CTGGCAACTCACCTGGCCTGT	0.607000													11	14					0	0	0.002450	0	0
WSCD2	9671	broad.mit.edu	37	12	108589878	108589878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:108589878G>A	ENST00000332082.4	+	3	1087	c.269G>A	c.(268-270)gGa>gAa	p.G90E	WSCD2_ENST00000547525.1_Missense_Mutation_p.G90E|WSCD2_ENST00000549903.1_Missense_Mutation_p.G90E|WSCD2_ENST00000261400.3_Missense_Mutation_p.G90E			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	90						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGCAGGTACGGACCCTGGTTC	0.612000													18	36					0	0	0.000958	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172563839	172563839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:172563839C>T	ENST00000534253.2	+	5	455	c.287C>T	c.(286-288)cCa>cTa	p.P96L	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P108L|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P90L|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P90L|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P108L|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P96L|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P90L|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P96L|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P90L|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P90L|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P96L			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	96					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GTGAGCACTCCAAGTGAAGCT	0.453000													21	39					0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13776665	13776665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:13776665G>A	ENST00000265104.4	-	55	9360	c.9256C>T	c.(9256-9258)Ctc>Ttc	p.L3086F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3086	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGAAGCAGAGCACAATATGA	0.493000									Kartagener syndrome				25	33					0	0	0.003954	0	0
IGHG2	3501	broad.mit.edu	37	14	106110066	106110066	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106110066G>A	ENST00000390545.2	-	0	551																											CGACGGTGAGGACGCTGACCA	0.567000													32	119					0	0	0.001485	0	0
MUC17	140453	broad.mit.edu	37	7	100682585	100682585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100682585G>A	ENST00000306151.4	+	3	7952	c.7888G>A	c.(7888-7890)Gaa>Aaa	p.E2630K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2630	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)					AACTCCTAGTGAAGTAAGTAC	0.458000													149	170					0	0	0.003610	0	0
KRT35	3886	broad.mit.edu	37	17	39637161	39637161	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39637161G>A	ENST00000246639.2	-	1	231	c.99C>T	c.(97-99)gcC>gcT	p.A33A	KRT35_ENST00000393989.1_Silent_p.A63A			Q92764	KRT35_HUMAN	keratin 35	63	Head.|Poly-Ser.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGCTGGTGGCCCTGTAGC	0.612000													7	20					0	0	0.003080	0	0
ZNF622	90441	broad.mit.edu	37	5	16451855	16451855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:16451855G>A	ENST00000308683.2	-	6	1471	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	449						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCATCCTTTGGACATACTGC	0.438000													28	24					0	0	0.001061	0	0
PARP10	84875	broad.mit.edu	37	8	145059331	145059331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145059331G>A	ENST00000313028.7	-	5	933	c.839C>T	c.(838-840)aCc>aTc	p.T280I	PARP10_ENST00000525773.1_Missense_Mutation_p.T292I|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.T280I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	280						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACCCTCCGGTCCTCAGGAG	0.647000													21	27					0	0	0.004656	0	0
SYNE2	23224	broad.mit.edu	37	14	64408603	64408603	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:64408603C>T	ENST00000358025.3	+	5	468	c.237_splice	c.e5-1	p.P80_splice	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Splice_Site_p.P80_splice|SYNE2_ENST00000341472.5_Splice_Site_p.P80_splice|SYNE2_ENST00000554584.1_Splice_Site_p.P80_splice|SYNE2_ENST00000344113.4_Splice_Site_p.P80_splice	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	80	Actin-binding.|CH 1.				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)		AATTTCACAGCCTCGGGATAA	0.299000													28	36					0	0	0.001061	0	0
CPNE2	221184	broad.mit.edu	37	16	57153179	57153179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:57153179C>T	ENST00000535318.2	+	7	941	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	CPNE2_ENST00000565874.1_Missense_Mutation_p.H194Y|CPNE2_ENST00000537605.1_Missense_Mutation_p.H92Y|CPNE2_ENST00000290776.8_Missense_Mutation_p.H194Y			Q96FN4	CPNE2_HUMAN	copine II	194	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GATGCTGGTCCACAGGACTGA	0.592000													19	22					0	0	0.002780	0	0
TJP1	7082	broad.mit.edu	37	15	30058537	30058537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:30058537C>T	ENST00000346128.6	-	5	995	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	TJP1_ENST00000356107.6_Missense_Mutation_p.R174Q|TJP1_ENST00000495972.2_Missense_Mutation_p.R174Q|TJP1_ENST00000400011.2_Missense_Mutation_p.R178Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R174Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	174					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCCACTGACCGCCTGTCTGA	0.507000													19	70					0	0	0.001523	0	0
PRB2	653247	broad.mit.edu	37	12	11548455	11548455	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:11548455C>T	ENST00000389362.4	-	1	44	c.9G>A	c.(7-9)ttG>ttA	p.L3L	PRB2_ENST00000545829.1_Intron|PRB1_ENST00000546254.1_Silent_p.L3L	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACAGCAGAATCAACAGCATCT	0.512000													25	25					0	0	0.002836	0	0
ABCA8	10351	broad.mit.edu	37	17	66878041	66878041	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:66878041C>T	ENST00000269080.2	-	29	3926	c.3789G>A	c.(3787-3789)aaG>aaA	p.K1263K	ABCA8_ENST00000586539.1_Silent_p.K1303K|ABCA8_ENST00000430352.2_Silent_p.K1303K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1263	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCGTGGCTATCTTATTCTTCC	0.463000													19	72					0	0	0.006122	0	0
NFATC3	4775	broad.mit.edu	37	16	68156670	68156670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:68156670C>T	ENST00000349223.5	+	2	1108	c.884C>T	c.(883-885)cCt>cTt	p.P295L	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.P295L|NFATC3_ENST00000329524.4_Missense_Mutation_p.P295L|NFATC3_ENST00000575270.1_Missense_Mutation_p.P295L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	295	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCACCTGTTCCTTCACCTGGT	0.557000													11	37					0	0	0.000978	0	0
EPHX1	2052	broad.mit.edu	37	1	226026479	226026479	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:226026479C>T	ENST00000366837.4	+	4	685	c.489C>T	c.(487-489)ctC>ctT	p.L163L	EPHX1_ENST00000272167.5_Silent_p.L163L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	163					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCATCCCACTCCTGACTGACC	0.572000													47	36					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8678363	8678363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:8678363G>A	ENST00000378641.3	+	11	1575	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PLCB1_ENST00000378637.2_Missense_Mutation_p.G367E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G367E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	367	PI-PLC X-box.				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						TGCTGGAAGGGACGGACTGCA	0.488000													42	46					0	0	0.002222	0	0
CASC1	55259	broad.mit.edu	37	12	25267779	25267779	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:25267779G>A	ENST00000354189.5	-	13	1631	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	CASC1_ENST00000537577.1_Silent_p.I356I|CASC1_ENST00000395987.3_Silent_p.I474I|CASC1_ENST00000395990.2_Silent_p.I428I|CASC1_ENST00000320267.9_Silent_p.I468I|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Silent_p.I409I	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	468										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATACATTGCTGATGCCATCAG	0.353000													22	25					0	0	0.003330	0	0
ASXL3	80816	broad.mit.edu	37	18	31324329	31324329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:31324329G>A	ENST00000269197.5	+	12	4517	c.4517G>A	c.(4516-4518)aGg>aAg	p.R1506K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGACCAGTGAGGACAGAGGCA	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	0.000602	0	0
MUC2	4583	broad.mit.edu	37	11	1097741	1097741	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1097741C>T	ENST00000441003.2	+	36	6861	c.6834C>T	c.(6832-6834)atC>atT	p.I2278I	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4640						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCGGGGAGATCGTCTCCAACT	0.642000													8	14					0	0	0.004482	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418175	85418175	+	Missense_Mutation	SNP	G	G	A	rs138870286		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:85418175G>A	ENST00000370608.3	-	5	671	c.604C>T	c.(604-606)Cct>Tct	p.P202S	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.P174S	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	202						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAGTCCGGAGGCTTCTTGGAG	0.398000													25	12					0	0	0.002445	0	0
RWDD1	51389	broad.mit.edu	37	6	116905895	116905895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:116905895C>T	ENST00000466444.2	+	3	361	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	RWDD1_ENST00000517800.1_3'UTR|RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	49	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		CTTAGCTGTCCAGACTACCCT	0.358000													18	27					0	0	0.000958	0	0
GRIA1	2890	broad.mit.edu	37	5	153149817	153149817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:153149817G>A	ENST00000285900.5	+	13	2455	c.2112G>A	c.(2110-2112)atG>atA	p.M704I	GRIA1_ENST00000521843.2_Missense_Mutation_p.M635I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M714I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M704I|GRIA1_ENST00000448073.4_Missense_Mutation_p.M714I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M624I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	704					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGAGGGGATGATTCGAGTGA	0.488000													22	16					0	0	0.001523	0	0
ZNF532	55205	broad.mit.edu	37	18	56587508	56587508	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:56587508C>T	ENST00000336078.4	+	4	2765	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S	ZNF532_ENST00000591230.1_Silent_p.S663S|ZNF532_ENST00000591083.1_Silent_p.S663S|ZNF532_ENST00000591808.1_Silent_p.S663S|ZNF532_ENST00000589288.1_Silent_p.S663S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCCTCCTTTCCCATGCCCGTG	0.483000													13	28					0	0	0.002450	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397041	3397041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:3397041G>A	ENST00000378378.4	+	15	2425	c.2020G>A	c.(2020-2022)Gga>Aga	p.G674R	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.G378R|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.G386R|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.G386R	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	674	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)		GCTCCGGGACGGAGAGACGGG	0.672000													6	3					0	0	0.003080	0	0
EXPH5	23086	broad.mit.edu	37	11	108380982	108380982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:108380982C>T	ENST00000265843.4	-	6	5362	c.5252G>A	c.(5251-5253)aGg>aAg	p.R1751K	EXPH5_ENST00000443411.1_Missense_Mutation_p.R1563K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1744K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1675K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1751					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGGCTCAGCCTCCTCTGATT	0.507000													17	17					0	0	0.004007	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	144942	144942	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:144942G>A	ENST00000283426.6	+	4	794	c.743_splice	c.e4-1	p.R248_splice		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	248					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCTCCCCAGGAAAGAGGTCC	0.562000													13	6					0	0	0.003163	0	0
UTRN	7402	broad.mit.edu	37	6	144747581	144747581	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:144747581C>T	ENST00000367545.3	+	6	564	c.564C>T	c.(562-564)gtC>gtT	p.V188V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	188	Actin-binding.|CH 2.				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)		TTAATGCTGTCCTCCACCGAC	0.527000													15	13					0	0	0.004990	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													11	28					0	0	0.000978	0	0
RASGRF2	5924	broad.mit.edu	37	5	80363978	80363978	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:80363978A>G	ENST00000265080.4	+	3	590	c.523A>G	c.(523-525)Atc>Gtc	p.I175V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	175					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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGACACAGAAATCGAAAGGCT	0.378000													15	30					0	0	0.004990	0	0
FREM1	158326	broad.mit.edu	37	9	14748452	14748452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:14748452C>T	ENST00000380881.4	-	32	6561	c.5746G>A	c.(5746-5748)Gat>Aat	p.D1916N	FREM1_ENST00000380894.1_Missense_Mutation_p.D451N|FREM1_ENST00000422223.2_Missense_Mutation_p.D1915N|FREM1_ENST00000380880.3_Missense_Mutation_p.D1915N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1915					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)		TCTGTAGAATCAAAGCCCCGC	0.468000													20	0					0	0	0.000958	0	0
USH1G	124590	broad.mit.edu	37	17	72916143	72916143	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72916143T>A	ENST00000319642.1	-	2	970	c.788A>T	c.(787-789)aAt>aTt	p.N263I		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	263					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCCTTGGGATTGGCGTAGGT	0.697000													17	28					0	0	0.006122	0	0
ZNF512	84450	broad.mit.edu	37	2	27821046	27821046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:27821046C>T	ENST00000355467.4	+	3	285	c.202C>T	c.(202-204)Cca>Tca	p.P68S	ZNF512_ENST00000379717.1_Missense_Mutation_p.P67S|ZNF512_ENST00000556601.1_5'UTR|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Missense_Mutation_p.P67S|ZNF512_ENST00000413371.2_5'UTR|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAGTGATTTTCCAGCATCTTT	0.418000													49	18					0	0	0.003610	0	0
CP	1356	broad.mit.edu	37	3	148905923	148905923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:148905923C>T	ENST00000264613.6	-	10	2042	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	594	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATATTATCTTCCAGGAGTAAA	0.338000													32	80					0	0	0.002445	0	0
RNF8	9025	broad.mit.edu	37	6	37342423	37342423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:37342423C>T	ENST00000373479.4	+	5	1259	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	RNF8_ENST00000469731.1_Missense_Mutation_p.R356C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	356					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGAGCTAAATCGCAGCAAGAA	0.403000													7	23					0	0	0.000673	0	0
ARRB1	408	broad.mit.edu	37	11	74979994	74979994	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:74979994G>A	ENST00000420843.2	-	14	1129	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	ARRB1_ENST00000360025.3_Silent_p.A336A|ARRB1_ENST00000393505.4_Silent_p.A344A	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	344	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCAGTTCCACGGCCACGTCGC	0.587000													20	25					0	0	0.002780	0	0
CASR	846	broad.mit.edu	37	3	121980560	121980560	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121980560C>T	ENST00000498619.1	+	4	1116	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CASR_ENST00000490131.1_Silent_p.F226F|CASR_ENST00000296154.5_Silent_p.F226F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	226					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGAGAAATTCCGAGAGGAAG	0.522000													44	69					0	0	0.002522	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497737	120497737	+	Silent	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120497737G>T	ENST00000256646.2	-	13	2364	c.2145C>A	c.(2143-2145)ccC>ccA	p.P715P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	715	EGF-like 18; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTAGCAGCTGGGGTGATGGG	0.532000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				47	6779					0.004672	0.0079661	0.004672	1	0
MYH8	4626	broad.mit.edu	37	17	10323467	10323467	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10323467C>T	ENST00000403437.2	-	3	172	c.78G>A	c.(76-78)cgG>cgA	p.R26R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	26	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGCCTCAATCCGCTCCTTTT	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				39	84					0	0	0.005524	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10560975	10560975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:10560975C>T	ENST00000539300.1	-	3	266	c.267G>A	c.(265-267)tgG>tgA	p.W89*	KLRC4_ENST00000309384.1_Missense_Mutation_p.G98E																							CTCCAGTACTCCAATACCTAG	0.259000													9	34					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179592543	179592543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179592543C>T	ENST00000589042.1	-	68	19986	c.19762G>A	c.(19762-19764)Gat>Aat	p.D6588N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D6271N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5344N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6271	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D5344H(1)		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)			ACTGTAGAATCAGGTATGGCT	0.348000													14	45					0	0	0.002450	0	0
CASR	846	broad.mit.edu	37	3	122001041	122001041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:122001041G>A	ENST00000498619.1	+	6	2158	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	CASR_ENST00000490131.1_Missense_Mutation_p.E564K|CASR_ENST00000296154.5_Missense_Mutation_p.E564K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	564					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCTGCTTTGAGTGTGTGGA	0.597000													14	60					0	0	0.004990	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774788	175774788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:175774788G>A	ENST00000298569.4	-	9	1266	c.733C>T	c.(733-735)Cga>Tga	p.R245*	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Nonsense_Mutation_p.R226*|KIAA1191_ENST00000510164.1_Nonsense_Mutation_p.R245*	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	245							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TGGGCTCCTCGGTAGGCCTGG	0.512000													23	12					0	0	0.001882	0	0
TEKT1	83659	broad.mit.edu	37	17	6703386	6703386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:6703386C>T	ENST00000338694.2	-	8	1346	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E	TEKT1_ENST00000535086.1_Missense_Mutation_p.G260E	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	406					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AGCCCAGACCCCATGGTCTTC	0.488000													52	67					0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914848	54914848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:54914848C>T	ENST00000474759.1	+	21	1918	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.H530Y|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.H624Y|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.H624Y	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	624						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCCAGAGGTCATGGGAAATA	0.463000													47	168					0	0	0.003610	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669997	44669997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:44669997C>T	ENST00000454036.1	+	8	1029	c.953C>T	c.(952-954)tCt>tTt	p.S318F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S295F|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	318					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCACGCTGTCTCGCCATGGC	0.577000													9	23					0	0	0.000443	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066980	18066980	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:18066980T>C	ENST00000506618.2	-	1	506	c.426A>G	c.(424-426)gtA>gtG	p.V142V		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	142					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ACAAGTTGTCTACTGGGATAT	0.453000													49	40					0	0	0.003610	0	0
TGM4	7047	broad.mit.edu	37	3	44951607	44951607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:44951607G>A	ENST00000296125.4	+	11	1421	c.1353G>A	c.(1351-1353)atG>atA	p.M451I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	451					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAGGTCATGGATCATGCCT	0.517000													12	39					0	0	0.000978	0	0
OR6C65	403282	broad.mit.edu	37	12	55795197	55795197	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55795197G>A	ENST00000379665.2	+	1	984	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACCAGCAGGTGAAACAGGCCC	0.358000													13	25					0	0	0.001855	0	0
CPVL	54504	broad.mit.edu	37	7	29160545	29160545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:29160545G>A	ENST00000409850.1	-	6	779	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	CPVL_ENST00000265394.5_Missense_Mutation_p.L45F|CPVL_ENST00000396276.3_Missense_Mutation_p.L45F|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	45					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAAGGGGTGAGAAATAATGGC	0.438000													34	34					0	0	0.001706	0	0
HENMT1	113802	broad.mit.edu	37	1	109191228	109191228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:109191228G>A	ENST00000370032.5	-	8	1562	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	HENMT1_ENST00000370031.1_Missense_Mutation_p.A412V|HENMT1_ENST00000402983.1_Missense_Mutation_p.A381V	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	381					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ACGCAGGTCAGCCACCACTGC	0.413000													11	5					0	0	0.000978	0	0
SYNM	23336	broad.mit.edu	37	15	99670365	99670365	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:99670365G>A	ENST00000336292.6	+	5	1917	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.V599V|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Silent_p.V314V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	600	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGACGCCTGTGAAGGATGCTG	0.562000													21	22					0	0	0.002780	0	0
TET1	80312	broad.mit.edu	37	10	70451120	70451120	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:70451120T>C	ENST00000373644.4	+	12	6169	c.5960T>C	c.(5959-5961)tTg>tCg	p.L1987S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1987					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGGAGAAATTGCCCCACATT	0.498000													43	47					0	0	0.003610	0	0
OR13C4	138804	broad.mit.edu	37	9	107289476	107289476	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:107289476G>A	ENST00000277216.3	-	1	14	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CAAATGTCTGGTTTATCTTGT	0.368000													15	39					0	0	0.004007	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365667	37365667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:37365667C>T	ENST00000361924.2	+	14	2664	c.2290C>T	c.(2290-2292)Ctc>Ttc	p.L764F	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L786F|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	764	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						ACTTGAGCTTCTCTTGAAGGA	0.408000													12	41					0	0	0.002450	0	0
RASA2	5922	broad.mit.edu	37	3	141328326	141328326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:141328326C>T	ENST00000286364.3	+	22	2325	c.2290C>T	c.(2290-2292)Ctt>Ttt	p.L764F	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.L765F			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	764					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						AATTTATTCCCTTTTTACCCT	0.294000													15	67					0	0	0.001882	0	0
YARS	8565	broad.mit.edu	37	1	33246732	33246732	+	Missense_Mutation	SNP	C	C	T	rs34213904		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:33246732C>T	ENST00000373477.4	-	10	1965	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	353					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTGGCAGGGCCTTTGGCCATT	0.507000													13	34					0	0	0.001855	0	0
GPR98	84059	broad.mit.edu	37	5	89971149	89971149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:89971149G>A	ENST00000405460.2	+	24	5296	c.5200G>A	c.(5200-5202)Gag>Aag	p.E1734K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1734					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)		CACTGTGGAGGAGGAAGATGG	0.537000													4	20					0	0	0.000602	0	0
EPHB2	2048	broad.mit.edu	37	1	23222940	23222940	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:23222940G>A	ENST00000400191.3	+	9	1752	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.T573T|EPHB2_ENST00000374630.3_Silent_p.T578T|EPHB2_ENST00000374632.3_Silent_p.T579T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	578					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGGAGTACACGGACAAGCTGC	0.597000													6	33					0	0	0.003080	0	0
WIPF1	7456	broad.mit.edu	37	2	175436896	175436896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:175436896G>A	ENST00000392547.2	-	5	736	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	WIPF1_ENST00000359761.3_Missense_Mutation_p.P213S|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P213S|WIPF1_ENST00000272746.5_Missense_Mutation_p.P213S|WIPF1_ENST00000409891.1_Missense_Mutation_p.P213S|WIPF1_ENST00000392546.2_Missense_Mutation_p.P213S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	213					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CCGGGGCTGGGCTGCCTGGGG	0.637000													23	10					0	0	0.003330	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960329	35960329	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:35960329C>T	ENST00000490799.1	-	6	1103	c.750G>A	c.(748-750)ggG>ggA	p.G250G	SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Silent_p.G250G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	250					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TAATCATAATCCCAAAGATGA	0.468000													45	39					0	0	0.003610	0	0
DDX42	11325	broad.mit.edu	37	17	61888459	61888459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61888459C>T	ENST00000578681.1	+	14	1925	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W	DDX42_ENST00000389924.2_Missense_Mutation_p.R442W|DDX42_ENST00000457800.2_Missense_Mutation_p.R442W|DDX42_ENST00000359353.5_Missense_Mutation_p.R323W|DDX42_ENST00000583590.1_Missense_Mutation_p.R442W	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	442	Helicase ATP-binding.				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						TGCAACTTTTCGGAAGAAGAT	0.408000													6	38					0	0	0.001168	0	0
REPIN1	29803	broad.mit.edu	37	7	150069035	150069035	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150069035C>T	ENST00000397281.2	+	4	1194	c.705C>T	c.(703-705)ccC>ccT	p.P235P	REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.P292P|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000425389.2_Silent_p.P235P|REPIN1_ENST00000540729.1_Silent_p.P235P|REPIN1_ENST00000444957.1_Silent_p.P235P|RP4-584D14.5_ENST00000488310.1_RNA	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	235					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCGACCGCCCCTTCCAGTGTG	0.746000													8	16					0	0	0.000443	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432718	140432718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140432718G>A	ENST00000306549.3	+	1	1740	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		555	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCCTAGATGACAATGACAA	0.493000													15	33					0	0	0.002450	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514491	161514491	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:161514491C>T	ENST00000367969.3	-	4	868	c.685_splice	c.e4+1	p.G229_splice	FCGR3A_ENST00000540048.1_Splice_Site_p.G193_splice|FCGR3A_ENST00000436743.1_Splice_Site_p.G193_splice|FCGR3A_ENST00000443193.1_Splice_Site_p.G228_splice	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	193					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	CATGTCTCACCTTGAGTGATG	0.507000													13	25					0	0	0.006122	0	0
DYTN	391475	broad.mit.edu	37	2	207530685	207530685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:207530685C>T	ENST00000452335.2	-	10	1165	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	350						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCGACAAATTCTTTCTTCCTG	0.383000													13	39					0	0	0.001368	0	0
MKI67	4288	broad.mit.edu	37	10	129913558	129913558	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:129913558T>C	ENST00000368654.3	-	7	1489	c.1114A>G	c.(1114-1116)Aga>Gga	p.R372G	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	372					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)				ACAGATTCTCTTCTACCAGTA	0.398000													48	51					0	0	0.003610	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50185643	50185643	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:50185643G>A	ENST00000335999.6	-	13	4185	c.3984C>T	c.(3982-3984)tcC>tcT	p.S1328S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1324										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCCACAAGAGGACAGCGAGT	0.687000													4	5					0	0	0.000248	0	0
EHD3	30845	broad.mit.edu	37	2	31484537	31484537	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:31484537C>T	ENST00000322054.5	+	5	1323	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	346					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGCGGGAGCACCAGATCTCAC	0.582000													17	40					0	0	0.006122	0	0
PARP10	84875	broad.mit.edu	37	8	145059330	145059330	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145059330G>A	ENST00000313028.7	-	5	934	c.840C>T	c.(838-840)acC>acT	p.T280T	PARP10_ENST00000525773.1_Silent_p.T292T|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Silent_p.T280T	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	280						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAACCCTCCGGTCCTCAGGA	0.652000													21	27					0	0	0.004656	0	0
TLL1	7092	broad.mit.edu	37	4	166929148	166929148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:166929148G>A	ENST00000061240.2	+	7	1512	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	TLL1_ENST00000513213.1_Missense_Mutation_p.E289K|TLL1_ENST00000507499.1_Missense_Mutation_p.E289K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	289	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCACTTGGAGAAAGATATGA	0.398000													13	57					0	0	0.002450	0	0
DNM1	1759	broad.mit.edu	37	9	130982538	130982538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:130982538G>A	ENST00000341179.7	+	6	859	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	DNM1_ENST00000393594.3_Missense_Mutation_p.R256Q|DNM1_ENST00000475805.1_Missense_Mutation_p.R256Q|DNM1_ENST00000486160.1_Missense_Mutation_p.R256Q|DNM1_ENST00000372923.3_Missense_Mutation_p.R256Q	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	256					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R256L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCTGAACGAAAGTTCTTC	0.547000													17	83					0	0	0.001523	0	0
HMCN1	83872	broad.mit.edu	37	1	186083197	186083197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:186083197C>T	ENST00000271588.4	+	73	11447	c.11218C>T	c.(11218-11220)Cca>Tca	p.P3740S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3740S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3740	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGGTGTGCCAACTCCAAG	0.413000													22	94					0	0	0.002780	0	0
GRM3	2913	broad.mit.edu	37	7	86416163	86416163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:86416163G>A	ENST00000361669.2	+	3	2154	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	GRM3_ENST00000394720.2_Missense_Mutation_p.R350Q|GRM3_ENST00000536043.1_Missense_Mutation_p.R224Q|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R352Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	352					synaptic transmission	integral to plasma membrane		p.R352L(1)|p.R352Q(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCTGGTTCCGGGACTTCTGG	0.612000													7	21					0	0	0.001984	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055097	17055097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17055097G>A	ENST00000262096.8	+	5	1075	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	127						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTAGCCATCCGATACTGTGAC	0.353000													29	109					0	0	0.004878	0	0
FAM169A	26049	broad.mit.edu	37	5	74078955	74078955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:74078955G>A	ENST00000389156.4	-	12	1355	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.S362F	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	422	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTCTAATTCAGATTCCTACAC	0.403000													41	18					0	0	0.003214	0	0
TTN	7273	broad.mit.edu	37	2	179399330	179399330	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179399330C>T	ENST00000589042.1	-	358	102236	c.102012G>A	c.(102010-102012)ctG>ctA	p.L34004L	TTN_ENST00000342175.6_Silent_p.L25131L|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000591111.1_Silent_p.L32363L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.L24939L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Silent_p.L25064L|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Silent_p.L31436L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32363	Ig-like 150.						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)			GCACATATACCAGTGTTCCAA	0.438000													24	47					0	0	0.005443	0	0
CASR	846	broad.mit.edu	37	3	122002604	122002604	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:122002604G>A	ENST00000498619.1	+	7	2271	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	CASR_ENST00000490131.1_Silent_p.K601K|CASR_ENST00000296154.5_Silent_p.K601K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	601					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCATTGCCAAGGAGATCGAGT	0.517000													36	32					0	0	0.001485	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768291	77768291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77768291G>A	ENST00000521891.2	+	10	9582	c.9134G>A	c.(9133-9135)cGg>cAg	p.R3045Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3000Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3019Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3000Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3000						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTCGATCGGGAGAAAGAT	0.512000										HNSCC(33;0.089)			16	41					0	0	0.004007	0	0
CAPN5	726	broad.mit.edu	37	11	76834767	76834767	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:76834767C>A	ENST00000278559.3	+	13	1963	c.1774C>A	c.(1774-1776)Ctg>Atg	p.L592M	CAPN5_ENST00000529629.1_Missense_Mutation_p.L592M|CAPN5_ENST00000456580.2_Missense_Mutation_p.L632M|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	592	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GGATGAATTTCTGGGCCAGGT	0.602000													13	120					0.000151284	0.000259738	0.001855	1	0
FBXL16	146330	broad.mit.edu	37	16	747067	747067	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:747067C>T	ENST00000397621.1	-	2	670	c.339G>A	c.(337-339)gaG>gaA	p.E113E	FBXL16_ENST00000324361.5_Silent_p.E113E	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	113	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCACACACTTCTCGCAGGCCG	0.662000													16	11					0	0	0.004990	0	0
KRT84	3890	broad.mit.edu	37	12	52776840	52776840	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:52776840C>T	ENST00000257951.3	-	3	831	c.765G>A	c.(763-765)gaG>gaA	p.E255E	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	255	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATACCACTTCCTCTTCATACC	0.498000													12	46					0	0	0.003163	0	0
QRSL1	55278	broad.mit.edu	37	6	107096972	107096972	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:107096972G>A	ENST00000369046.4	+	5	557	c.453G>A	c.(451-453)aaG>aaA	p.K151K	QRSL1_ENST00000369044.1_Silent_p.K151K	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	151					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ATAGAGAAAAGAGGAAGCAGA	0.463000													17	19					0	0	0.004990	0	0
AXL	558	broad.mit.edu	37	19	41765667	41765667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41765667C>T	ENST00000301178.4	+	20	2733	c.2543C>T	c.(2542-2544)cCt>cTt	p.P848L	AXL_ENST00000359092.3_Missense_Mutation_p.P839L|AXL_ENST00000593513.1_Missense_Mutation_p.P580L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	848						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAGCCAGACCCTAAGGATTCC	0.597000													26	8					0	0	0.004656	0	0
FCRL1	115350	broad.mit.edu	37	1	157768028	157768028	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:157768028A>T	ENST00000358292.3	-	7	971	c.920T>A	c.(919-921)cTt>cAt	p.L307H	FCRL1_ENST00000368176.3_Missense_Mutation_p.L346H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.L346H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	346						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGCTGGGAAGGCTCCTGCA	0.483000													12	22					0	0	0.001368	0	0
SPAG17	200162	broad.mit.edu	37	1	118516144	118516144	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118516144G>A	ENST00000336338.5	-	44	6110	c.6045C>T	c.(6043-6045)tcC>tcT	p.S2015S	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2015						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGCAGCAAGGACTGGGTTG	0.398000													22	518					0	0	0.002299	0	0
SYNE2	23224	broad.mit.edu	37	14	64450546	64450546	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:64450546T>A	ENST00000358025.3	+	18	2323	c.2093T>A	c.(2092-2094)gTt>gAt	p.V698D	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.V698D|SYNE2_ENST00000344113.4_Missense_Mutation_p.V698D	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	698					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)		AAAGCAACTGTTGAGTTTTCA	0.294000													15	13					0	0	0.002450	0	0
LLGL2	3993	broad.mit.edu	37	17	73564710	73564710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73564710C>T	ENST00000392550.3	+	11	1307	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	LLGL2_ENST00000577200.1_Missense_Mutation_p.P397L|LLGL2_ENST00000167462.5_Missense_Mutation_p.P397L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	397					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAACATCCCGCTGAAGCTG	0.652000													9	35					0	0	0.000443	0	0
PRKG2	5593	broad.mit.edu	37	4	82126026	82126026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:82126026G>A	ENST00000395578.1	-	2	292	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PRKG2_ENST00000264399.1_Missense_Mutation_p.S59L|PRKG2_ENST00000418486.2_Missense_Mutation_p.S59L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	59					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.S59L(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTCTGCTTCGACAGCTGCTC	0.557000													49	39					0	0	0.003610	0	0
IGHG2	3501	broad.mit.edu	37	14	106110065	106110065	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106110065G>A	ENST00000390545.2	-	0	552																											ACGACGGTGAGGACGCTGACC	0.572000													33	120					0	0	0.001485	0	0
ABHD8	79575	broad.mit.edu	37	19	17412068	17412068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:17412068C>T	ENST00000247706.3	-	2	597	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	120							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCTGCCAGCTCCACCTCCAGG	0.746000													10	8					0	0	0.000978	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:37270690G>A	ENST00000373091.3	-	15	2479	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_ENST00000373093.4_Silent_p.I821I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000													20	38					0	0	0.001216	0	0
TFR2	7036	broad.mit.edu	37	7	100225227	100225227	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100225227G>A	ENST00000462107.1	-	16	2027	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	TFR2_ENST00000223051.3_Silent_p.V580V|TFR2_ENST00000544242.1_Silent_p.V121V|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	580					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)					CGACGGCAGGGACTCCCACAA	0.642000													7	13					0	0	0.001984	0	0
CHST4	10164	broad.mit.edu	37	16	71571069	71571069	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:71571069G>A	ENST00000338482.5	+	3	832	c.489G>A	c.(487-489)gtG>gtA	p.V163V	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.V163V|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Silent_p.V163V			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	163					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTTTGAGGTGGTGGAGAAGG	0.602000													27	24					0	0	0.001271	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:168105217G>A	ENST00000409195.1	+	9	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(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						TAATAAGAACGATTTTTCCCC	0.408000													28	68					0	0	0.002445	0	0
BOC	91653	broad.mit.edu	37	3	113003233	113003233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:113003233C>T	ENST00000495514.1	+	17	3409	c.2705C>T	c.(2704-2706)cCg>cTg	p.P902L	BOC_ENST00000355385.3_Missense_Mutation_p.P902L|BOC_ENST00000273395.4_Missense_Mutation_p.P903L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	902					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCTCCTGCCCGTATACTATG	0.567000													41	42					0	0	0.003610	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994350	83994350	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:83994350C>T	ENST00000343939.2	+	5	1013	c.630C>T	c.(628-630)ccC>ccT	p.P210P	OSGIN1_ENST00000361711.3_Silent_p.P127P|OSGIN1_ENST00000393306.1_Silent_p.P127P|OSGIN1_ENST00000565123.1_Silent_p.P127P			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	210					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGAACCTCCCCGGGGGAGCCT	0.657000													10	10					0	0	0.000673	0	0
LRP1B	53353	broad.mit.edu	37	2	141747168	141747168	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141747168C>T	ENST00000389484.3	-	17	3674	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	901	LDL-receptor class A 4.				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)		AAAGCCATCTCTTGGGGATGC	0.413000										TSP Lung(27;0.18)			29	40					0	0	0.001512	0	0
OR4M1	441670	broad.mit.edu	37	14	20248889	20248889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20248889G>A	ENST00000315957.4	+	1	489	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTACCATCATGAATCGACGTC	0.502000													48	175					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40958353	40958353	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:40958353G>A	ENST00000313164.9	+	11	1838	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTCGTAGGGAATCAAGCAG	0.488000													5	23					0	0	0.000602	0	0
NUP210L	91181	broad.mit.edu	37	1	154042924	154042924	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154042924C>T	ENST00000368559.3	-	17	2450	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L	NUP210L_ENST00000271854.3_Silent_p.L793L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	793						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTGTCCCTCAGTCTTGATA	0.338000													14	24					0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	20975320	20975320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:20975320G>A	ENST00000261383.3	-	53	9885	c.9886C>T	c.(9886-9888)Cca>Tca	p.P3296S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3296					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)		ACAGCCACTGGCTTGTAGCCC	0.483000													40	45					0	0	0.001706	0	0
DNAH3	55567	broad.mit.edu	37	16	21011706	21011706	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:21011706G>A	ENST00000261383.3	-	43	6260	c.6261C>T	c.(6259-6261)ttC>ttT	p.F2087F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2087	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGGAGAAGGAAGTTGTTGG	0.493000													22	20					0	0	0.002299	0	0
BRINP3	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:190195314G>A	ENST00000367462.3	-	6	1090	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.P185S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		287						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGCATTCTGGAAATTTGGGA	0.438000													16	47					0	0	0.001523	0	0
UNC79	57578	broad.mit.edu	37	14	94120150	94120150	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94120150A>G	ENST00000553484.1	+	38	6483	c.6329A>G	c.(6328-6330)cAg>cGg	p.Q2110R	UNC79_ENST00000256339.4_Missense_Mutation_p.Q1911R|UNC79_ENST00000555664.1_Missense_Mutation_p.Q2049R|UNC79_ENST00000393151.2_Missense_Mutation_p.Q2088R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2088						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCTTCCATCAGTTGGCCCCC	0.552000													91	94					0	0	0.003610	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010672	173010672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:173010672C>T	ENST00000404377.3	-	3	435	c.435G>A	c.(433-435)atG>atA	p.M145I	TNFSF18_ENST00000239468.2_Missense_Mutation_p.M123I|RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	145					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GAGTTTGTATCATGTCTTTGT	0.373000													17	65					0	0	0.004990	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:54306001G>A	ENST00000545554.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E301K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E301K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	301					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTCGGAGGGAAACTAGAGA	0.428000													44	55					0	0	0.002852	0	0
PDE4B	5142	broad.mit.edu	37	1	66384348	66384348	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:66384348C>T	ENST00000329654.4	+	3	298	c.111C>T	c.(109-111)atC>atT	p.I37I	PDE4B_ENST00000371049.3_Silent_p.I37I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	37					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.I37I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACTTGGGATCGACCTCTGGA	0.438000													7	33					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13752267	13752267	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:13752267G>A	ENST00000265104.4	-	64	11108	c.11004C>T	c.(11002-11004)ttC>ttT	p.F3668F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3668	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTTTTAATGAAGTTTCTTT	0.408000									Kartagener syndrome				30	18					0	0	0.002445	0	0
VPS13D	55187	broad.mit.edu	37	1	12353750	12353750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:12353750G>A	ENST00000358136.3	+	24	6152	c.6022G>A	c.(6022-6024)Gag>Aag	p.E2008K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2008K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2008					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTGCTATTGAGGGGCAGAC	0.517000													8	22					0	0	0.003080	0	0
CNTN5	53942	broad.mit.edu	37	11	99715827	99715827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:99715827G>A	ENST00000524871.1	+	6	700	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	CNTN5_ENST00000527185.1_Missense_Mutation_p.R137Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.R137Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R63Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.R137Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	137	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R137Q(1)|p.R137L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGATGGCTTCGAAATGGAACA	0.353000													12	42					0	0	0.000978	0	0
ATP10D	57205	broad.mit.edu	37	4	47570864	47570864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:47570864G>A	ENST00000273859.3	+	16	3133	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	955					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGCCTGTGGGATGCTGATG	0.443000													9	34					0	0	0.000978	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533408	84533408	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:84533408G>A	ENST00000527857.1	+	0	3430					NR_026851.1																						CAAGGGATAAGAGAGAGAGTG	0.483000													7	3					0	0	0.003080	0	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:100211914G>A	ENST00000524871.1	+	23	3297	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTAGCCAACGAATCTGAAGT	0.433000													25	86					0	0	0.003954	0	0
STAT4	6775	broad.mit.edu	37	2	191897874	191897874	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:191897874C>T	ENST00000392320.2	-	21	2168	c.1852_splice	c.e21-1	p.G618_splice	STAT4_ENST00000358470.4_Splice_Site_p.G618_splice	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	618	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ATCTCACTTCCCCTTGAAAAA	0.443000													7	15					0	0	0.003080	0	0
VSIG2	23584	broad.mit.edu	37	11	124618332	124618332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:124618332C>T	ENST00000403470.1	-	6	860	c.805G>A	c.(805-807)Gag>Aag	p.E269K	VSIG2_ENST00000326621.5_Missense_Mutation_p.E269K			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	269						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TTCCCCCTCTCTTTCTGGAAC	0.607000													29	2					0	0	0.003755	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463580	241463580	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:241463580G>A	ENST00000391987.1	-	8	1653	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	ANKMY1_ENST00000405523.3_Silent_p.S288S|ANKMY1_ENST00000272972.3_Silent_p.S429S|ANKMY1_ENST00000405002.1_Silent_p.S199S|ANKMY1_ENST00000536462.1_Silent_p.S241S|ANKMY1_ENST00000403283.1_Silent_p.S367S|ANKMY1_ENST00000373320.4_Silent_p.S199S|ANKMY1_ENST00000373318.2_Silent_p.S288S|ANKMY1_ENST00000401804.1_Silent_p.S518S|ANKMY1_ENST00000361678.4_Silent_p.S288S|ANKMY1_ENST00000406958.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	429							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTTCAGAGAGCTGCTCCTGT	0.652000													16	13					0	0	0.004007	0	0
HRH1	3269	broad.mit.edu	37	3	11301038	11301038	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:11301038C>T	ENST00000397056.1	+	3	506	c.315C>T	c.(313-315)tcC>tcT	p.S105S	HRH1_ENST00000431010.2_Silent_p.S105S|HRH1_ENST00000438284.2_Silent_p.S105S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTTGGCTTTCCATGGACTATG	0.542000													37	118					0	0	0.005524	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376964	138376964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:138376964G>A	ENST00000356818.2	+	4	1157	c.608G>A	c.(607-609)gGa>gAa	p.G203E	PPP1R26_ENST00000401470.3_Missense_Mutation_p.G203E|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G203E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G203E|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G203E|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	203						nucleolus	protein binding										AGCCAGGTGGGATCCAGCAAG	0.607000													25	29					0	0	0.003954	0	0
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:104948865G>A	ENST00000507740.1	+	10	2074	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R660Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R821Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R599Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	883					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R613Q(3)|p.R888Q(3)|p.R599Q(3)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCCACCGAAGAGAATTT	0.388000										HNSCC(12;0.0054)			34	46					0	0	0.003271	0	0
SMC6	79677	broad.mit.edu	37	2	17877687	17877687	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:17877687A>T	ENST00000448223.2	-	22	2670	c.2401T>A	c.(2401-2403)Tta>Ata	p.L801I	SMC6_ENST00000381272.4_Missense_Mutation_p.L827I|SMC6_ENST00000402989.1_Missense_Mutation_p.L801I|SMC6_ENST00000351948.4_Missense_Mutation_p.L801I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	801					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)					GCAAGGTTTAATTCATCCTGT	0.313000													27	23					0	0	0.001271	0	0
OR5B12	390191	broad.mit.edu	37	11	58207156	58207156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:58207156G>A	ENST00000302572.2	-	1	490	c.469C>T	c.(469-471)Cat>Tat	p.H157Y		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAGTATGAATGGATGCA	0.448000													37	25					0	0	0.001951	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944201	50944201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:50944201G>A	ENST00000357701.5	+	8	688	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	213					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CATCCCCCCGGAGATTTGGGA	0.577000													6	13					0	0	0.001168	0	0
RASA2	5922	broad.mit.edu	37	3	141328325	141328325	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:141328325C>T	ENST00000286364.3	+	22	2324	c.2289C>T	c.(2287-2289)tcC>tcT	p.S763S	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Silent_p.S764S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	763					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						GAATTTATTCCCTTTTTACCC	0.289000													15	65					0	0	0.001882	0	0
ITGA2	3673	broad.mit.edu	37	5	52379209	52379209	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:52379209T>C	ENST00000296585.5	+	27	3327	c.3184T>C	c.(3184-3186)Ttg>Ctg	p.L1062L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1062					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TACCTGCTGGTTGAAAGACGT	0.348000													11	9					0	0	0.001855	0	0
GRID1	2894	broad.mit.edu	37	10	87379753	87379753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:87379753G>A	ENST00000327946.7	-	14	2316	c.2231C>T	c.(2230-2232)gCc>gTc	p.A744V	GRID1_ENST00000536331.1_Missense_Mutation_p.A315V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	744						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTCCACCACGGCCACATCCCA	0.552000										Multiple Myeloma(13;0.14)			17	15					0	0	0.006122	0	0
ZNF226	7769	broad.mit.edu	37	19	44679881	44679881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44679881C>T	ENST00000590089.1	+	7	833	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	ZNF226_ENST00000337433.5_Missense_Mutation_p.P156S|ZNF226_ENST00000454662.2_Missense_Mutation_p.P156S|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGCAGATGGTCCCAATAATAC	0.403000													17	7					0	0	0.004990	0	0
WDR72	256764	broad.mit.edu	37	15	53889321	53889321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:53889321C>T	ENST00000396328.1	-	18	3342	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	WDR72_ENST00000557913.1_Missense_Mutation_p.E1032K|WDR72_ENST00000360509.5_Missense_Mutation_p.E1035K|WDR72_ENST00000559418.1_Missense_Mutation_p.E1045K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1035										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)		TCTAGTTCTTCTGTCCATTCC	0.393000													30	115					0	0	0.002096	0	0
NCOA2	10499	broad.mit.edu	37	8	71068277	71068277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:71068277G>A	ENST00000452400.2	-	11	2504	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	775					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTACTGGCAGGATCTGTCTTA	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								27	39					0	0	0.005443	0	0
LLGL2	3993	broad.mit.edu	37	17	73569202	73569202	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73569202C>T	ENST00000392550.3	+	20	2685	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	LLGL2_ENST00000577200.1_Silent_p.A856A|LLGL2_ENST00000167462.5_Silent_p.A856A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	856					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCGTCGAGCCGAGGACTACG	0.657000													21	15					0	0	0.002299	0	0
ACSM5	54988	broad.mit.edu	37	16	20422863	20422863	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:20422863C>T	ENST00000331849.4	+	2	204	c.57C>T	c.(55-57)ttC>ttT	p.F19F	ACSM5_ENST00000575584.1_Silent_p.F19F	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	19					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAGGGCATTCTGTGGGTCTC	0.572000													17	19					0	0	0.006122	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931130	94931130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94931130G>A	ENST00000337425.5	-	4	1092	c.1018C>T	c.(1018-1020)Ctc>Ttc	p.L340F	SERPINA9_ENST00000380365.3_Missense_Mutation_p.L322F|SERPINA9_ENST00000298845.7_Missense_Mutation_p.L240F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.L304F|SERPINA9_ENST00000448305.2_Missense_Mutation_p.L242F|SERPINA9_ENST00000424550.2_Missense_Mutation_p.L191F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	322					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ATCTTCGGGAGGATGGTTTCC	0.438000													17	57					0	0	0.004990	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713165	189713165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189713165C>T	ENST00000319332.5	-	2	744	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E2K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	183					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTGCATTTCCATGTGCTCA	0.458000													18	24					0	0	0.004990	0	0
BICD2	23299	broad.mit.edu	37	9	95480163	95480163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95480163G>A	ENST00000356884.6	-	6	2241	c.2174C>T	c.(2173-2175)aCc>aTc	p.T725I	BICD2_ENST00000375512.3_Missense_Mutation_p.T725I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	725	Interacts with RAB6A (By similarity).				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						CTTCATCATGGTCTCGGTAAC	0.562000													24	41					0	0	0.003954	0	0
PARK2	5071	broad.mit.edu	37	6	161969965	161969965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:161969965G>A	ENST00000366898.1	-	9	1106	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	PARK2_ENST00000366892.1_Missense_Mutation_p.P335L|PARK2_ENST00000366894.1_Missense_Mutation_p.P144L|PARK2_ENST00000366896.1_Missense_Mutation_p.P186L|PARK2_ENST00000366897.1_Missense_Mutation_p.P307L|PARK2_ENST00000338468.3_Missense_Mutation_p.P144L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	335					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)		TCCACAGCCAGGGCGGGGGCA	0.612000													8	39					0	0	0.004482	0	0
CDKN1B	1027	broad.mit.edu	37	12	12874024	12874024	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:12874024G>A	ENST00000396340.1	+	2	519	c.501G>A	c.(499-501)agG>agA	p.R167R	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000228872.4_3'UTR			P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	0					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ATGAAGCAAGGAAGATATACA	0.308000													10	8					0	0	0.000443	0	0
LRP1B	53353	broad.mit.edu	37	2	141081578	141081578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141081578G>A	ENST00000389484.3	-	81	13369	c.12398C>T	c.(12397-12399)cCt>cTt	p.P4133L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4133					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)		ACCATTTTTAGGTCCTGCTCC	0.299000										TSP Lung(27;0.18)			34	49					0	0	0.003755	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105454852	105454852	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:105454852T>C	ENST00000258494.9	-	9	1188		c.e9-2		ALDH1L2_ENST00000424857.2_Splice_Site	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2						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						CCAGATGACCTACACAAAAAG	0.433000													8	17					0	0	0.003080	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51916984	51916984	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51916984G>A	ENST00000353836.5	-	9	1739	c.1518C>T	c.(1516-1518)gtC>gtT	p.V506V	SIGLEC10_ENST00000439889.2_Silent_p.V543V|SIGLEC10_ENST00000339313.5_Silent_p.V601V|SIGLEC10_ENST00000442846.3_Silent_p.V358V|SIGLEC10_ENST00000441969.3_Silent_p.V448V|SIGLEC10_ENST00000525998.1_Silent_p.V416V|SIGLEC10_ENST00000432469.2_Silent_p.V423V|SIGLEC10_ENST00000356298.5_Silent_p.V601V|SIGLEC10_ENST00000436984.2_Silent_p.V458V	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	601					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGCCGTCGGGACCACATTGA	0.537000													32	17					0	0	0.002445	0	0
OR2C3	81472	broad.mit.edu	37	1	247695323	247695323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247695323G>A	ENST00000366487.3	-	2	852	c.491C>T	c.(490-492)aCc>aTc	p.T164I	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGAGCATGGTGAGCGTGGA	0.547000													12	10					0	0	0.001368	0	0
ZNF283	284349	broad.mit.edu	37	19	44351370	44351370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44351370C>T	ENST00000324461.7	+	7	914	c.617C>T	c.(616-618)tCc>tTc	p.S206F	ZNF283_ENST00000588797.1_Missense_Mutation_p.S67F	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ACAGAGAAATCCTATGTTTGT	0.338000													13	40					0	0	0.001368	0	0
ABCC10	89845	broad.mit.edu	37	6	43410735	43410735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43410735C>T	ENST00000244533.3	+	8	2529	c.2170C>T	c.(2170-2172)Cct>Tct	p.P724S	ABCC10_ENST00000372530.4_Missense_Mutation_p.P752S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	752	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTCGATGACCCTCTGGCCGC	0.592000													9	43					0	0	0.000673	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:165218847G>A	ENST00000342310.3	-	4	676	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_ENST00000367893.4_Silent_p.F98F|LMX1A_ENST00000294816.2_Silent_p.F98F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000													5	14					0	0	0.000602	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906440	164906440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:164906440G>A	ENST00000475390.1	-	2	2622	c.2179C>T	c.(2179-2181)Ctt>Ttt	p.L727F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L727F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	727						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGAGAGGAAAGAGTTGGTCGa	0.567000										HNSCC(40;0.11)			19	12					0	0	0.000958	0	0
HTR4	3360	broad.mit.edu	37	5	147928263	147928263	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:147928263C>T	ENST00000360693.3	-	4	459	c.321G>A	c.(319-321)tcG>tcA	p.S107S	HTR4_ENST00000521735.1_Silent_p.S107S|HTR4_ENST00000517929.1_Silent_p.S107S|HTR4_ENST00000377888.3_Silent_p.S107S|HTR4_ENST00000354217.2_Silent_p.S107S|HTR4_ENST00000314512.6_Silent_p.S107S|HTR4_ENST00000521530.1_Silent_p.S107S|HTR4_ENST00000520514.1_Silent_p.S107S|HTR4_ENST00000362016.2_Silent_p.S107S	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	107					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGTGAAAAATCGATGCCGTTG	0.488000													4	1					0	0	0.001168	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646731	122646731	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:122646731G>A	ENST00000195173.4	-	8	1059	c.756C>T	c.(754-756)gtC>gtT	p.V252V	SEMA5B_ENST00000451055.2_Silent_p.V306V|SEMA5B_ENST00000357599.3_Silent_p.V252V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	252	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAAGTCGATGACCGTGGCTG	0.587000													23	27					0	0	0.002299	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685486	128685486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:128685486G>A	ENST00000281154.4	+	3	617	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	150					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.R150Q(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GATTTTGCCCGAACCCGATTA	0.388000													37	26					0	0	0.001287	0	0
PTPN11	5781	broad.mit.edu	37	12	112910775	112910775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:112910775C>T	ENST00000351677.2	+	7	982	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	PTPN11_ENST00000392597.1_Missense_Mutation_p.L262F	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	262	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTGCAAACTTCTCTACAGCCG	0.363000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				38	96					0	0	0.001951	0	0
IQSEC3	440073	broad.mit.edu	37	12	176580	176580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:176580G>A	ENST00000538872.1	+	1	650	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	IQSEC3_ENST00000326261.4_Missense_Mutation_p.G178S			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	178					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCGGCAAGGGCGTCCTGAG	0.647000													7	17					0	0	0.000978	0	0
C1orf127	148345	broad.mit.edu	37	1	11008258	11008258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:11008258G>A	ENST00000377004.4	-	12	1933	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	C1orf127_ENST00000377008.4_Missense_Mutation_p.S478F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	496										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGTTCTGAGGATGAAAGGTC	0.647000													12	16					0	0	0.001855	0	0
KMT2C	58508	broad.mit.edu	37	7	151880115	151880115	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:151880115T>C	ENST00000355193.2	-	35	5427	c.5209A>G	c.(5209-5211)Aaa>Gaa	p.K1737E	KMT2C_ENST00000262189.6_Missense_Mutation_p.K1737E					lysine (K)-specific methyltransferase 2C																		AAAGGATCTTTAAAAAGCTCC	0.343000													120	128					0	0	0.003610	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000078	8000078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:8000078G>A	ENST00000380149.1	-	15	2501	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L	ALOXE3_ENST00000448843.2_Missense_Mutation_p.P668L|ALOXE3_ENST00000318227.3_Missense_Mutation_p.P800L			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	668					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GCTCCGCCTCGGGGCCTCCTC	0.617000													22	18					0	0	0.003954	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746080	77746080	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:77746080G>A	ENST00000409088.3	-	3	1329	c.915C>T	c.(913-915)tcC>tcT	p.S305S	LRRTM4_ENST00000409884.1_Silent_p.S305S|LRRTM4_ENST00000409911.1_Silent_p.S306S|LRRTM4_ENST00000409282.1_Silent_p.S306S|LRRTM4_ENST00000409093.1_Silent_p.S305S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	305						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACAATGTGATGGATATTAATG	0.353000													8	15					0	0	0.003080	0	0
KCNK15	60598	broad.mit.edu	37	20	43378776	43378776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:43378776G>A	ENST00000372861.3	+	2	421	c.290G>A	c.(289-291)gGc>gAc	p.G97D		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	97						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				ATAGAGTACGGCCACGCCGCG	0.687000													3	8					0	0	0.000248	0	0
BRD9	65980	broad.mit.edu	37	5	889776	889776	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:889776G>A	ENST00000323510.4	-	1	38	c.39C>T	c.(37-39)ttC>ttT	p.F13F	BRD9_ENST00000388890.4_Silent_p.F13F|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Silent_p.F13F			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	0							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAAT	0.443000													7	13					0	0	0.004482	0	0
SBNO1	55206	broad.mit.edu	37	12	123810811	123810811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:123810811G>A	ENST00000420886.2	-	13	1762	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	SBNO1_ENST00000267176.4_Missense_Mutation_p.S587F|SBNO1_ENST00000602750.1_Missense_Mutation_p.S587F|SBNO1_ENST00000602398.1_Missense_Mutation_p.S588F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	588							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)		ACCCCACATGGACTTCTTCAT	0.453000													34	137					0	0	0.004289	0	0
COL4A5	1287	broad.mit.edu	37	X	107829938	107829938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:107829938C>T	ENST00000328300.6	+	19	1370	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P376S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	376	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCGAGGATTTCCTGGAATACA	0.438000									Alport syndrome with Diffuse Leiomyomatosis				62	0					0	0	0.003610	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280645	105280645	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:105280645G>A	ENST00000327674.4	-	1	740	c.405C>T	c.(403-405)ttC>ttT	p.F135F	SERPINA7_ENST00000372563.1_Silent_p.F135F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	135					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTTGCCAATGAAGAGGGCAT	0.438000													70	5					0	0	0.003610	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212737	134212737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:134212737C>T	ENST00000535456.2	+	2	364	c.176C>T	c.(175-177)tCc>tTc	p.S59F	GLB1L2_ENST00000389881.3_Missense_Mutation_p.S59F|GLB1L2_ENST00000339772.7_Missense_Mutation_p.S59F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	59					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTGGAGGATTCCACCTTCTGG	0.612000													18	0					0	0	0.006122	0	0
TMEM79	84283	broad.mit.edu	37	1	156261300	156261300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156261300G>A	ENST00000405535.2	+	4	1267	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	TMEM79_ENST00000295694.5_Missense_Mutation_p.E366K|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Missense_Mutation_p.G127E|C1orf85_ENST00000472870.1_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGTGGAGCCGGAGCGCATGCT	0.677000													52	55					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28224136	28224136	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:28224136T>G	ENST00000305242.5	-	16	2390	c.2298A>C	c.(2296-2298)acA>acC	p.T766T	ARMC4_ENST00000537576.1_Silent_p.T458T|ARMC4_ENST00000545014.1_Silent_p.T291T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	766							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGCTGATCTGTTAGAAGTC	0.428000													16	65					0	0	0.004007	0	0
KIF12	113220	broad.mit.edu	37	9	116857589	116857589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:116857589C>T	ENST00000374118.3	-	7	742	c.505G>A	c.(505-507)Gac>Aac	p.D169N	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	302	Kinesin-motor.				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						CGCTGTGGGTCCAGCAGCAGG	0.602000													13	10					0	0	0.001855	0	0
C1orf63	57035	broad.mit.edu	37	1	25569092	25569092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:25569092C>T	ENST00000243189.7	-	5	1137	c.861G>A	c.(859-861)tgG>tgA	p.W287*	C1orf63_ENST00000417642.2_Nonsense_Mutation_p.W288*	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	287										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)		AGATAGGTATCCACAGTCCAT	0.378000													19	45					0	0	0.001523	0	0
STEAP3	55240	broad.mit.edu	37	2	120003549	120003549	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:120003549G>A	ENST00000354888.5	+	3	981	c.477G>A	c.(475-477)agG>agA	p.R159R	STEAP3_ENST00000393106.2_Silent_p.R159R|STEAP3_ENST00000393110.2_Silent_p.R169R|STEAP3_ENST00000409811.1_Silent_p.R159R|STEAP3_ENST00000393108.2_Silent_p.R159R|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Silent_p.R159R|STEAP3_ENST00000450943.2_Silent_p.R159R|STEAP3_ENST00000393107.2_Silent_p.R159R	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	159					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGCCCAAGGGATGGTAACA	0.502000													13	41					0	0	0.004990	0	0
FPR2	2358	broad.mit.edu	37	19	52272026	52272026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52272026C>T	ENST00000598776.1	+	2	887	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	FPR2_ENST00000340023.6_Missense_Mutation_p.L39F|FPR2_ENST00000598953.1_Missense_Mutation_p.L39F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	39					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.L39F(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACCTTTGTCCTCGGGGTCCT	0.552000													26	15					0	0	0.001061	0	0
USH1G	124590	broad.mit.edu	37	17	72916142	72916142	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72916142A>G	ENST00000319642.1	-	2	971	c.789T>C	c.(787-789)aaT>aaC	p.N263N		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	263					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ACTCCTTGGGATTGGCGTAGG	0.701000													17	28					0	0	0.006122	0	0
PROS1	5627	broad.mit.edu	37	3	93611862	93611862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:93611862C>T	ENST00000394236.3	-	10	1386	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	PROS1_ENST00000407433.1_Missense_Mutation_p.G226E	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	357	Laminin G-like 1.		G -> R (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCAATCTTTCCACCACGAAG	0.403000													36	33					0	0	0.004289	0	0
ZNF233	353355	broad.mit.edu	37	19	44777836	44777836	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44777836C>T	ENST00000391958.2	+	5	1150	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZNF233_ENST00000334152.1_Silent_p.L323L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAGAGAACCTCTACAGATGTC	0.507000													8	17					0	0	0.003080	0	0
NOS2	4843	broad.mit.edu	37	17	26096159	26096159	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:26096159G>A	ENST00000313735.6	-	17	2111	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	626	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGCTGGAGCCGAGGCCAAACA	0.612000													7	7					0	0	0.003080	0	0
SPINK5	11005	broad.mit.edu	37	5	147499859	147499859	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:147499859G>A	ENST00000359874.3	+	26	2516	c.2441_splice	c.e26-1	p.E815_splice	SPINK5_ENST00000256084.7_Splice_Site_p.E815_splice|SPINK5_ENST00000398454.1_Splice_Site_p.E815_splice	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	815	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCCCAGGGAAAGGGAAGC	0.388000													11	4					0	0	0.000978	0	0
RCAN2	10231	broad.mit.edu	37	6	46190989	46190989	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:46190989G>A	ENST00000371374.1	-	5	812	c.621C>T	c.(619-621)gtC>gtT	p.V207V	RCAN2_ENST00000306764.7_Silent_p.V207V|RCAN2_ENST00000405162.1_Silent_p.V207V|RCAN2_ENST00000330430.6_Silent_p.V161V	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	161					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACACGTGCACGACGACACTTG	0.522000													39	114					0	0	0.002522	0	0
C1orf222	339457	broad.mit.edu	37	1	1919980	1919980	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:1919980C>T	ENST00000434971.2	-	4	299	c.267G>A	c.(265-267)gaG>gaA	p.E89E				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTCTTGCTCCTCATGCATCT	0.547000													8	21					0	0	0.000443	0	0
SKAP2	8935	broad.mit.edu	37	7	26893780	26893780	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:26893780A>G	ENST00000345317.2	-	3	488	c.173_splice	c.e3-1	p.Y59_splice	SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	59					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCCTGAAGATAGCTACAAAAC	0.259000													15	34					0	0	0.000958	0	0
GSS	2937	broad.mit.edu	37	20	33517333	33517333	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:33517333T>A	ENST00000216951.2	-	12	1270	c.1172A>T	c.(1171-1173)gAg>gTg	p.E391V	GSS_ENST00000451957.2_Missense_Mutation_p.E280V|GSS_ENST00000541098.1_Missense_Mutation_p.E263V	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	391					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGAGGCCCTCTCCTCACTGTC	0.547000													78	111					0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98563401	98563401	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:98563401C>T	ENST00000359863.4	+	48	7247	c.7038C>T	c.(7036-7038)ttC>ttT	p.F2346F	TRRAP_ENST00000446306.3_Silent_p.F2328F|TRRAP_ENST00000355540.3_Silent_p.F2328F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2346	Interaction with TP53.				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)			GGAAGAACTTCATCCAGGCCA	0.527000													18	26					0	0	0.000958	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39566105	39566105	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39566105C>T	ENST00000432258.1	+	0	1519				AC003958.2_ENST00000430006.1_RNA																							AACCCCAACTCACTTGGTCCT	0.507000													5	5					0	0	0.000602	0	0
TNRC6B	23112	broad.mit.edu	37	22	40706893	40706893	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:40706893C>A	ENST00000454349.2	+	17	4542	c.4331C>A	c.(4330-4332)aCa>aAa	p.T1444K	TNRC6B_ENST00000301923.9_Missense_Mutation_p.T640K|TNRC6B_ENST00000402203.1_Missense_Mutation_p.T640K|TNRC6B_ENST00000335727.8_Missense_Mutation_p.T1334K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1444					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCTGGTGACACACTGGGTGGC	0.498000													6	11					3.59834e-05	6.18596e-05	0.001168	1	0
THEG	51298	broad.mit.edu	37	19	375747	375747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:375747G>A	ENST00000342640.4	-	1	266	c.224C>T	c.(223-225)cCg>cTg	p.P75L	THEG_ENST00000346878.2_Missense_Mutation_p.P75L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	75					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)		CAGGGTCTCCGGGAACTCCTC	0.602000													38	41					0	0	0.001485	0	0
CHD2	1106	broad.mit.edu	37	15	93486111	93486111	+	Missense_Mutation	SNP	A	A	T	rs145479816		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:93486111A>T	ENST00000394196.4	+	9	1933	c.865A>T	c.(865-867)Aat>Tat	p.N289Y	CHD2_ENST00000557381.1_Missense_Mutation_p.N289Y|CHD2_ENST00000536619.1_Missense_Mutation_p.N302Y|CHD2_ENST00000420239.2_Missense_Mutation_p.N289Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	289	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.N289Y(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GATTGAAGCTAATGGCGACCC	0.428000													16	29					0	0	0.006122	0	0
PCM1	5108	broad.mit.edu	37	8	17823920	17823920	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17823920C>T	ENST00000325083.8	+	20	3598	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	PCM1_ENST00000519253.1_Silent_p.F1053F|PCM1_ENST00000524226.1_Silent_p.F1054F	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1053					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGTACACTTCATAATGCACC	0.393000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								23	100					0	0	0.002780	0	0
ADORA1	134	broad.mit.edu	37	1	203134668	203134668	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:203134668C>T	ENST00000367236.4	+	3	1542	c.621C>T	c.(619-621)atC>atT	p.I207I	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.I207I|ADORA1_ENST00000337894.4_Silent_p.I207I|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	207					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTACCTAATCCGCAAGCAGC	0.552000													22	26					0	0	0.002299	0	0
CTSC	1075	broad.mit.edu	37	11	88033708	88033708	+	Silent	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:88033708A>C	ENST00000227266.5	-	5	861	c.747T>G	c.(745-747)gtT>gtG	p.V249V		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	249			V -> F (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTGGTTTCGAACAGGACTGA	0.373000													18	21					0	0	0.001523	0	0
GFRAL	389400	broad.mit.edu	37	6	55198660	55198660	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55198660C>T	ENST00000340465.2	+	3	320	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	78						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGCAATTTCCAATTTAAAG	0.348000													77	88					0	0	0.003610	0	0
MCTP1	79772	broad.mit.edu	37	5	94248651	94248651	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:94248651G>A	ENST00000515393.1	-	9	1380	c.1381C>T	c.(1381-1383)Cta>Tta	p.L461L	MCTP1_ENST00000429576.2_Silent_p.L194L|MCTP1_ENST00000312216.8_Silent_p.L240L|MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000505208.1_Silent_p.L240L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	461	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTCTGTGTAGGTCTGATAGG	0.428000													63	24					0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23913172	23913172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:23913172G>A	ENST00000382298.3	-	10	5431	c.4843C>T	c.(4843-4845)Cct>Tct	p.P1615S	SACS_ENST00000382292.3_Missense_Mutation_p.P1615S|SACS_ENST00000402364.1_Missense_Mutation_p.P865S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1615					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)		AACTGATTAGGAAATTTTCTA	0.343000													26	31					0	0	0.003954	0	0
TPPP	11076	broad.mit.edu	37	5	677879	677879	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:677879G>A	ENST00000360578.5	-	2	418	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	99	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TCTTGCTGAAGACGATGTCCA	0.642000													18	16					0	0	0.001882	0	0
C4orf17	84103	broad.mit.edu	37	4	100460382	100460382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:100460382C>T	ENST00000514652.1	+	7	1045	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	C4orf17_ENST00000326581.4_Missense_Mutation_p.H231Y			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	231										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GTTAACTCATCACAGAAGAAA	0.443000													69	68					0	0	0.003610	0	0
OVCH2	341277	broad.mit.edu	37	11	7720302	7720302	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:7720302G>A	ENST00000454689.1	-	0	919				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCCACCTCTGGAGCTCTTTCT	0.468000													8	8					0	0	0.000673	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:10951345G>A	ENST00000298232.7	-	9	680	c.313C>T	c.(313-315)Cct>Tct	p.P105S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P123S|TPTE_ENST00000342420.5_Missense_Mutation_p.P85S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	123					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)		TACTCCAAAGGAATATAAAGT	0.323000													37	141					0	0	0.005524	0	0
ZNF391	346157	broad.mit.edu	37	6	27368374	27368374	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:27368374G>A	ENST00000244576.4	+	3	770	c.225G>A	c.(223-225)caG>caA	p.Q75Q		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACGCACAACAGAAAATTCCAA	0.393000													41	47					0	0	0.002222	0	0
DVL1	1855	broad.mit.edu	37	1	1275130	1275130	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:1275130G>A	ENST00000378888.5	-	9	1256	c.972C>T	c.(970-972)atC>atT	p.I324I	DVL1_ENST00000378891.5_Silent_p.I324I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	324					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTGGGAAACGATCTCCCGCA	0.642000													4	9					0	0	0.000248	0	0
PAN3	255967	broad.mit.edu	37	13	28830519	28830519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:28830519C>T	ENST00000399613.1	+	6	554	c.491C>T	c.(490-492)cCa>cTa	p.P164L	PAN3_ENST00000282391.5_Missense_Mutation_p.P52L|PAN3_ENST00000483842.1_3'UTR|PAN3_ENST00000380958.3_Missense_Mutation_p.P364L			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	364	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTCACACTCCAAATCCAGCA	0.463000													45	59					0	0	0.003610	0	0
CETP	1071	broad.mit.edu	37	16	57009057	57009057	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:57009057C>T	ENST00000200676.3	+	10	1105	c.975C>T	c.(973-975)ttC>ttT	p.F325F	CETP_ENST00000566128.1_Silent_p.F260F|CETP_ENST00000379780.2_Silent_p.F265F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	325					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGGAAATCTTCCAAGAGGTAA	0.537000													17	18					0	0	0.004990	0	0
OR10J3	441911	broad.mit.edu	37	1	159283706	159283706	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159283706C>T	ENST00000332217.5	-	1	743	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGATGATGACCACTGTGAGGT	0.512000													9	53					0	0	0.000443	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306098	179306098	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:179306098G>A	ENST00000356834.3	-	9	1553	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	TBC1D9B_ENST00000355235.3_Silent_p.L506L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	506						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACCCTTCAGGACCAGTGCC	0.627000													12	11					0	0	0.000978	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766226	77766226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77766226G>A	ENST00000521891.2	+	10	7517	c.7069G>A	c.(7069-7071)Gat>Aat	p.D2357N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2312N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2331N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2312N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2312	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATGCCACTGATCAAGTGGT	0.488000										HNSCC(33;0.089)			75	84					0	0	0.003610	0	0
ARL8A	127829	broad.mit.edu	37	1	202107544	202107544	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:202107544G>A	ENST00000272217.2	-	2	324	c.156C>T	c.(154-156)acC>acT	p.T52T		NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	52					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TGAAACCCACGGTGGGGATCA	0.512000													26	21					0	0	0.001786	0	0
EPS8L3	79574	broad.mit.edu	37	1	110293374	110293374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110293374G>A	ENST00000369805.3	-	18	1910	c.1681C>T	c.(1681-1683)Ctt>Ttt	p.L561F	EPS8L3_ENST00000361852.4_Missense_Mutation_p.L530F|EPS8L3_ENST00000361965.4_Missense_Mutation_p.L560F|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	560						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTTATGCGAAGTAGCTGGCTC	0.607000													5	8					0	0	0.001984	0	0
NELFB	25920	broad.mit.edu	37	9	140151454	140151454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:140151454C>T	ENST00000343053.4	+	4	882	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		ACAGAGCTCTCTGTCCTGCAC	0.607000													20	28					0	0	0.003330	0	0
SCARA5	286133	broad.mit.edu	37	8	27737269	27737269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27737269G>A	ENST00000354914.3	-	8	1653	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S	SCARA5_ENST00000380385.2_Missense_Mutation_p.P165S	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	390					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATCATCATCGGGGCCTCCACG	0.662000													15	14					0	0	0.003163	0	0
HOXA3	3200	broad.mit.edu	37	7	27150227	27150227	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:27150227C>T	ENST00000396352.4	-	2	232	c.33G>A	c.(31-33)gcG>gcA	p.A11A	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.A11A	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	11					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACCGTAGATCGCCGAGCTGT	0.602000													41	36					0	0	0.003610	0	0
TXK	7294	broad.mit.edu	37	4	48088607	48088607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:48088607C>T	ENST00000264316.4	-	10	917	c.832G>A	c.(832-834)Gga>Aga	p.G278R		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	278	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGACCGCTTCCAATCTCCTTT	0.398000													27	30					0	0	0.005443	0	0
MORC1	27136	broad.mit.edu	37	3	108724021	108724021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:108724021C>T	ENST00000232603.5	-	19	1991	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	MORC1_ENST00000483760.1_Missense_Mutation_p.E616K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	637					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTGTTTCTGAAATATAC	0.388000													39	42					0	0	0.005524	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205741	43205741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:43205741G>A	ENST00000255226.6	+	3	1060	c.244G>A	c.(244-246)Gac>Aac	p.D82N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.D82N	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	82						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCATCGGGACTCAGCAGG	0.507000													10	9					0	0	0.000443	0	0
COL4A1	1282	broad.mit.edu	37	13	110823043	110823043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:110823043C>T	ENST00000375820.4	-	42	3714	c.3593G>A	c.(3592-3594)gGg>gAg	p.G1198E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1198	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTGGGCTCCCGGCTAATCC	0.577000													19	27					0	0	0.003954	0	0
CEACAM3	1084	broad.mit.edu	37	19	42315244	42315244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:42315244G>A	ENST00000357396.3	+	7	969	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	243						integral to membrane		p.R243Q(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATTTACTGCCGGATGGACCAC	0.552000													12	33					0	0	0.002450	0	0
FAT4	79633	broad.mit.edu	37	4	126412549	126412549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:126412549G>A	ENST00000394329.3	+	17	14585	c.14572G>A	c.(14572-14574)Gag>Aag	p.E4858K	FAT4_ENST00000335110.5_Missense_Mutation_p.E3099K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4858					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						ATATGACAGGGAGAAGCCAAT	0.428000													27	40					0	0	0.002445	0	0
PPRC1	23082	broad.mit.edu	37	10	103899829	103899829	+	Silent	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:103899829C>A	ENST00000278070.2	+	5	1603	c.1564C>A	c.(1564-1566)Cgg>Agg	p.R522R	PPRC1_ENST00000413464.2_Silent_p.R522R	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGGAAGCCCCGGGCTTGGGC	0.537000													34	43					5.73237e-09	9.8975e-09	0.001287	1	0
SYT12	91683	broad.mit.edu	37	11	66807475	66807475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66807475C>T	ENST00000393946.2	+	7	1584	c.422C>T	c.(421-423)tCc>tTc	p.S141F	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.S141F|SYT12_ENST00000525457.1_Missense_Mutation_p.S141F			Q8IV01	SYT12_HUMAN	synaptotagmin XII	141						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AACTCCATCTCCTCCGTGAGC	0.632000													13	26					0	0	0.001368	0	0
TACC2	10579	broad.mit.edu	37	10	123845148	123845148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123845148C>T	ENST00000369005.1	+	4	3473	c.3133C>T	c.(3133-3135)Cct>Tct	p.P1045S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P1045S|TACC2_ENST00000453444.2_Missense_Mutation_p.P1045S|TACC2_ENST00000515603.1_Missense_Mutation_p.P1045S|TACC2_ENST00000334433.3_Missense_Mutation_p.P1045S|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1045						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)				GGAGGCCCCACCTTGTCAGCC	0.617000													14	12					0	0	0.001855	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696044	222696044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:222696044G>A	ENST00000343410.6	-	9	2132	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	692					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGGACGTGGGGCCCCACTCTG	0.567000													115	332					0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156589651	156589651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:156589651C>T	ENST00000302938.4	-	2	1720	c.1625G>A	c.(1624-1626)aGg>aAg	p.R542K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	542						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGTGGCCCTGAGGCTCCT	0.463000													147	304					0	0	0.003610	0	0
CCKAR	886	broad.mit.edu	37	4	26484868	26484868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:26484868C>T	ENST00000295589.3	-	4	858	c.664G>A	c.(664-666)Gga>Aga	p.G222R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	222					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATCACAATTCCAGGAATAAGA	0.383000													29	92					0	0	0.001061	0	0
SIRPD	128646	broad.mit.edu	37	20	1532558	1532558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:1532558C>T	ENST00000381623.3	-	2	1389	c.200G>A	c.(199-201)gGa>gAa	p.G67E	SIRPD_ENST00000381621.1_Missense_Mutation_p.G67E			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	67	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGGCCCTGTTCCCTTGAACCA	0.448000													26	34					0	0	0.003330	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078587	11078587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:11078587C>T	ENST00000287766.4	+	16	2156	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	SLC6A1_ENST00000536032.1_Missense_Mutation_p.R401C	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	579					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGACATCGTTCGCCCAGAGAA	0.637000													17	31					0	0	0.001216	0	0
DARC	2532	broad.mit.edu	37	1	159176192	159176192	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159176192C>T	ENST00000537147.1	+	3	1806	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DARC_ENST00000368122.2_Silent_p.L321L|DARC_ENST00000368121.2_Silent_p.L323L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	321					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCTGCCCCTCCCTGAAGGAT	0.557000													57	182					0	0	0.003610	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742376	10742376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10742376G>A	ENST00000586078.1	+	8	686	c.577G>A	c.(577-579)Gat>Aat	p.D193N	SLC44A2_ENST00000335757.5_Missense_Mutation_p.D193N|SLC44A2_ENST00000407327.4_Missense_Mutation_p.D191N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GACCTATGAGGATGGGCATGG	0.607000													11	15					0	0	0.001855	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100552	39100552	+	Silent	SNP	G	G	A	rs140049352	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:39100552G>A	ENST00000591517.1	-	12	952	c.924C>T	c.(922-924)ccC>ccT	p.P308P	MAP4K1_ENST00000589130.1_Silent_p.P304P|MAP4K1_ENST00000586296.1_Silent_p.P308P|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.P308P	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	308					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCTCACCTCGGGCTCCTCAT	0.592000													11	41					0	0	0.002450	0	0
EPPK1	83481	broad.mit.edu	37	8	144947143	144947143	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144947143G>A	ENST00000525985.1	-	2	350	c.279C>T	c.(277-279)ctC>ctT	p.L93L				P58107	EPIPL_HUMAN	epiplakin 1	93						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)			TGGACACAGGGAGCAGCTGGC	0.701000													6	4					0	0	0.001984	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38390367G>A	ENST00000329553.2	+	4	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AGGTCGGCAGGAAAATGGCCC	0.632000													4	7					0	0	0.000602	0	0
OR14C36	127066	broad.mit.edu	37	1	248512199	248512199	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:248512199C>T	ENST00000317861.1	+	1	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGGGAAACATCCTCATTGTGA	0.423000													59	50					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177250217	177250217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:177250217G>A	ENST00000361539.4	+	8	2217	c.1905G>A	c.(1903-1905)tgG>tgA	p.W635*	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		635						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGAATAGGTGGAAGACTTTCT	0.498000													24	23					0	0	0.002780	0	0
LLGL2	3993	broad.mit.edu	37	17	73559887	73559887	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73559887G>A	ENST00000392550.3	+	9	998	c.881_splice	c.e9+1	p.G294_splice	LLGL2_ENST00000577200.1_Splice_Site_p.G294_splice|LLGL2_ENST00000375227.4_Splice_Site_p.G294_splice|LLGL2_ENST00000167462.5_Splice_Site_p.G294_splice|LLGL2_ENST00000578363.1_Splice_Site_p.G294_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	294					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACTAGGCAGGGGTAGGTATCC	0.532000													16	62					0	0	0.004007	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454172	114454172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:114454172C>T	ENST00000369563.3	+	4	1404	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	320					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		GCCCCTGATTCCGGACTCTGT	0.552000								Other identified genes with known or suspected DNA repair function					10	19					0	0	0.000443	0	0
CYTH4	27128	broad.mit.edu	37	22	37688669	37688669	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:37688669G>A	ENST00000248901.6	+	2	214	c.27G>A	c.(25-27)gcG>gcA	p.A9A	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.A9A|CYTH4_ENST00000402997.1_Silent_p.A9A	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	9					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TAGAGCCCGCGGAGCTGAGCA	0.612000													24	36					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179585319	179585319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179585319C>T	ENST00000589042.1	-	80	23394	c.23170G>A	c.(23170-23172)Gaa>Aaa	p.E7724K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7407K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6480K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7407	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E6480K(1)		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)			CCCGAAATTTCACATTGGAGA	0.388000													7	15					0	0	0.003080	0	0
SIPA1	6494	broad.mit.edu	37	11	65417270	65417270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:65417270C>T	ENST00000394224.3	+	12	2976	c.2680C>T	c.(2680-2682)Ccg>Tcg	p.P894S	SIPA1_ENST00000394227.3_Missense_Mutation_p.P792S|SIPA1_ENST00000527525.1_Missense_Mutation_p.P792S|SIPA1_ENST00000534313.1_Missense_Mutation_p.P894S	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	894					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CAAGGGCAACCCGGCGCCGGA	0.607000													9	22					0	0	0.000673	0	0
POP1	10940	broad.mit.edu	37	8	99146750	99146750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:99146750C>T	ENST00000401707.2	+	7	955	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F	POP1_ENST00000349693.3_Missense_Mutation_p.L292F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	292					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCAAGGGAGCCTTGTGCTTTA	0.502000													14	50					0	0	0.004990	0	0
MAP7	9053	broad.mit.edu	37	6	136667165	136667165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:136667165C>T	ENST00000354570.3	-	17	2478	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	MAP7_ENST00000454590.1_Missense_Mutation_p.E712K|MAP7_ENST00000544465.1_Missense_Mutation_p.E675K|MAP7_ENST00000432797.2_Missense_Mutation_p.E544K|MAP7_ENST00000438100.2_Missense_Mutation_p.E675K	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	690					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCAAAATTTTCATTCTGAACA	0.313000													8	31					0	0	0.004482	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418174	85418174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:85418174G>A	ENST00000370608.3	-	5	672	c.605C>T	c.(604-606)cCt>cTt	p.P202L	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.P174L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	202						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCAGTCCGGAGGCTTCTTGGA	0.393000													25	11					0	0	0.002836	0	0
CDH18	1016	broad.mit.edu	37	5	19483414	19483414	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:19483414G>A	ENST00000507958.1	-	14	2868	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L	CDH18_ENST00000382275.1_Silent_p.L626L|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Silent_p.L626L|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	626					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACTTACCCAGGAGAATGAGAA	0.463000													30	21					0	0	0.002096	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54974739	54974739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54974739C>T	ENST00000257905.8	-	6	669	c.499G>A	c.(499-501)Gga>Aga	p.G167R	PPP1R1A_ENST00000547431.1_Silent_p.R93R	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	167	Interaction with PPP1R15A.				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						GAGTTGGCTCCCTTGGAATCC	0.507000													45	106					0	0	0.003610	0	0
XRN1	54464	broad.mit.edu	37	3	142102198	142102198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:142102198G>A	ENST00000264951.4	-	22	2677	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	XRN1_ENST00000392981.2_Missense_Mutation_p.P854S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	854					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCTCAGAGGAAACAAATCA	0.338000													14	26					0	0	0.006122	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175049	102175049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:102175049C>T	ENST00000306176.1	+	4	488	c.388C>T	c.(388-390)Cct>Tct	p.P130S	ZPLD1_ENST00000466937.1_Missense_Mutation_p.P114S|ZPLD1_ENST00000491959.1_Missense_Mutation_p.P114S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	114	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATCCACAATTCCTGGAGTCAG	0.348000													9	48					0	0	0.004482	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18658279	18658279	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18658279C>T	ENST00000433979.1	+	23	3200	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	PIK3C2G_ENST00000538779.1_Silent_p.I1069I|PIK3C2G_ENST00000266497.5_Silent_p.I1028I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1028	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TAACATTCATCCTGGGAGTAT	0.383000													8	12					0	0	0.004482	0	0
RFX5	5993	broad.mit.edu	37	1	151315884	151315884	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:151315884A>G	ENST00000290524.4	-	10	970	c.792T>C	c.(790-792)tcT>tcC	p.S264S	RFX5_ENST00000368870.2_Silent_p.S264S|RFX5_ENST00000452513.2_Silent_p.S224S|RFX5_ENST00000452671.2_Silent_p.S264S	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	264						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	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)			TCTTTGGTTTAGATGACCGTT	0.517000													18	21					0	0	0.000958	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032408	10032408	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:10032408C>T	ENST00000396573.2	-	4	724	c.414_splice	c.e4-1	p.D139_splice	GRIN2A_ENST00000562109.1_Splice_Site_p.D139_splice|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000404927.2_Splice_Site_p.D139_splice|GRIN2A_ENST00000330684.3_Splice_Site_p.D139_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.D139_splice|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	139					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)	GACGTCGGATCCTGCCAGTGA	0.468000													6	25					0	0	0.001168	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053420	5053420	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:5053420T>A	ENST00000251170.7	+	11	1328	c.1148T>A	c.(1147-1149)cTa>cAa	p.L383Q		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	383	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACCTGCCTGCTAGACCTGGAG	0.632000													8	14					0	0	0.000673	0	0
DEPDC7	91614	broad.mit.edu	37	11	33050310	33050310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:33050310G>A	ENST00000311388.3	+	4	1103	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	DEPDC7_ENST00000241051.3_Missense_Mutation_p.G252R	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	252					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TCTGGATCGAGGGATTCTCAA	0.393000													26	33					0	0	0.001786	0	0
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	C	T	rs36040686	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:28968349C>T	ENST00000359747.4	+	4	265	c.236C>T	c.(235-237)tCg>tTg	p.S79L	DSG4_ENST00000308128.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1.				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)			GACTGCGAATCGAACCAGAAG	0.418000													9	11					0	0	0.000443	0	0
SOX13	9580	broad.mit.edu	37	1	204093876	204093876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:204093876C>T	ENST00000367204.1	+	13	1592	c.1483C>T	c.(1483-1485)Ccg>Tcg	p.P495S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	495					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAGTACAAGCCGCGGCCCAA	0.627000													5	3					0	0	0.001168	0	0
TELO2	9894	broad.mit.edu	37	16	1545618	1545618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:1545618C>T	ENST00000262319.6	+	3	886	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	203						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGTGGACTCTCTCCAAGGTGA	0.657000													15	23					0	0	0.004007	0	0
DMXL2	23312	broad.mit.edu	37	15	51742485	51742485	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:51742485G>A	ENST00000251076.5	-	42	9029	c.8742C>T	c.(8740-8742)ctC>ctT	p.L2914L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L2278L|DMXL2_ENST00000543779.2_Silent_p.L2915L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2914						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)		CCGAGATTAGGAGTTGCTGTT	0.473000													18	70					0	0	0.001523	0	0
BRINP3	339479	broad.mit.edu	37	1	190067368	190067368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:190067368C>T	ENST00000367462.3	-	8	2312	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G592E	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		694						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATCCTGGGATCCCTGAGTATA	0.453000													29	29					0	0	0.005443	0	0
RELL2	285613	broad.mit.edu	37	5	141019180	141019180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:141019180C>T	ENST00000297164.3	+	4	1667	c.467C>T	c.(466-468)cCc>cTc	p.P156L	RELL2_ENST00000518856.1_Missense_Mutation_p.P90L|RELL2_ENST00000444782.1_Missense_Mutation_p.P156L|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.P90L|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	156						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCCGCCCCCGGACAGGG	0.647000													4	18					0	0	0.000248	0	0
SEL1L3	23231	broad.mit.edu	37	4	25836876	25836876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:25836876G>A	ENST00000399878.3	-	3	925	c.803C>T	c.(802-804)cCg>cTg	p.P268L	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P233L|SEL1L3_ENST00000502949.1_Missense_Mutation_p.P115L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	268						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCGAAACCTCGGGAACTTCTT	0.532000													48	62					0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49699631	49699631	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:49699631G>A	ENST00000296452.4	+	6	10467	c.10353G>A	c.(10351-10353)ggG>ggA	p.G3451G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3451					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)		CATACAGTGGGGAGAAGCTGT	0.607000													20	18					0	0	0.001882	0	0
OR51M1	390059	broad.mit.edu	37	11	5410987	5410987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5410987C>T	ENST00000328611.3	+	1	381	c.359C>T	c.(358-360)tCc>tTc	p.S120F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	120						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCTTTTTCCTTCATGGAG	0.502000													97	116					0	0	0.003610	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806289	93806289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:93806289G>A	ENST00000315765.9	+	7	1339	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	444	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTACTAAAAGAAAGAGACTC	0.423000													14	4					0	0	0.004990	0	0
CSF3R	1441	broad.mit.edu	37	1	36945038	36945038	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36945038G>A	ENST00000373103.1	-	3	607	c.60C>T	c.(58-60)ccC>ccT	p.P20P	CSF3R_ENST00000331941.5_Silent_p.P20P|CSF3R_ENST00000373104.1_Silent_p.P20P|CSF3R_ENST00000373106.1_Silent_p.P20P|CSF3R_ENST00000418048.2_Silent_p.P20P|CSF3R_ENST00000361632.4_Silent_p.P20P|CSF3R_ENST00000338937.5_Silent_p.P20P|CSF3R_ENST00000440588.2_Silent_p.P20P	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	20					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACTCACTTCCGGGGAGCAGCA	0.547000													4	19					0	0	0.000602	0	0
AOX1	316	broad.mit.edu	37	2	201480694	201480694	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:201480694G>A	ENST00000374700.2	+	16	1853	c.1611_splice	c.e16-1	p.D538_splice	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	538					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TACTTTTCAGGATCCAGTTCA	0.398000													9	23					0	0	0.000978	0	0
KDM3B	51780	broad.mit.edu	37	5	137727375	137727375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:137727375C>T	ENST00000314358.5	+	8	2254	c.2054C>T	c.(2053-2055)tCt>tTt	p.S685F	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.S341F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	685	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GATTCGGCATCTTTAGCAAAG	0.537000													33	11					0	0	0.003271	0	0
ITSN1	6453	broad.mit.edu	37	21	35260506	35260506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:35260506G>A	ENST00000381318.3	+	40	5356	c.5068G>A	c.(5068-5070)Ggc>Agc	p.G1690S	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.G1685S|ITSN1_ENST00000381285.4_Missense_Mutation_p.G1690S|ITSN1_ENST00000437442.2_Missense_Mutation_p.G1629S|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1690					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						GAAAGACCAGGGCTCCAAAGG	0.532000													17	26					0	0	0.004990	0	0
NAV3	89795	broad.mit.edu	37	12	78582399	78582399	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:78582399T>C	ENST00000397909.2	+	33	6070	c.5897T>C	c.(5896-5898)tTc>tCc	p.F1966S	NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.F1944S|NAV3_ENST00000266692.7_Missense_Mutation_p.F1767S|NAV3_ENST00000536525.2_Missense_Mutation_p.F1944S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1966						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAATATGTATTCCGAATTGAT	0.378000										HNSCC(70;0.22)			23	40					0	0	0.004656	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885780	88885780	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:88885780G>A	ENST00000319675.3	-	1	516	c.420C>T	c.(418-420)tcC>tcT	p.S140S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	140										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCAGAAGGTGGGAATCCAAGT	0.562000													22	20					0	0	0.001882	0	0
C1orf105	92346	broad.mit.edu	37	1	172417629	172417629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:172417629G>A	ENST00000367727.4	+	3	354	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	52										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGAAGAATATGAATTTGCCAA	0.333000													63	68					0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573888	18573888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18573888G>A	ENST00000433979.1	+	16	2322	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E777K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E736K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	736					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCAGATCAAGAAATTCGTAA	0.358000													14	53					0	0	0.003163	0	0
RPS5	6193	broad.mit.edu	37	19	58904809	58904809	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:58904809G>A	ENST00000596046.1	+	3	1251	c.402G>A	c.(400-402)gtG>gtA	p.V134V	RPS5_ENST00000196551.3_Silent_p.V134V|RPS5_ENST00000601521.1_Silent_p.V134V|RPS5_ENST00000598495.1_Silent_p.V155V|RPS5_ENST00000598098.1_Silent_p.V64V			P46782	RS5_HUMAN	ribosomal protein S5	134					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CCGGGACTGTGAGACGACAGG	0.642000													9	29					0	0	0.000978	0	0
MXRA5	25878	broad.mit.edu	37	X	3229661	3229661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:3229661C>T	ENST00000217939.6	-	7	6737	c.6583G>A	c.(6583-6585)Gat>Aat	p.D2195N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2195	Ig-like C2-type 6.					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)				ATTCTGCTATCAAAACTACAG	0.428000													11	15					0	0	0.001368	0	0
TOP2B	7155	broad.mit.edu	37	3	25665114	25665114	+	Silent	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:25665114A>C	ENST00000435706.2	-	21	2805	c.2604T>G	c.(2602-2604)ggT>ggG	p.G868G	TOP2B_ENST00000264331.4_Silent_p.G873G			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	873					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						TGCCCTCAGCACCATTTATTA	0.428000													19	33					0	0	0.001216	0	0
RGPD3	653489	broad.mit.edu	37	2	107050824	107050824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:107050824G>A	ENST00000409886.3	-	15	2152	c.2065C>T	c.(2065-2067)Cac>Tac	p.H689Y	RGPD3_ENST00000304514.7_Missense_Mutation_p.H689Y	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	689					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCTTCCTGTGAAAAATCTAT	0.383000													51	36					0	0	0.003610	0	0
ZNF138	7697	broad.mit.edu	37	7	64291928	64291928	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:64291928A>C	ENST00000359735.3	+	4	484	c.137A>C	c.(136-138)aAg>aCg	p.K46T	ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.K46T|ZNF138_ENST00000440155.2_Missense_Mutation_p.K77T|ZNF138_ENST00000307355.7_Missense_Mutation_p.K103T|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.K71T|ZNF138_ENST00000440598.1_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	77					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TATGGACATAAGAATTTACAG	0.383000													30	38					0	0	0.001271	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012692	153012692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:153012692G>A	ENST00000368757.1	-	2	411	c.131C>T	c.(130-132)cCc>cTc	p.P44L	SPRR2D_ENST00000368756.1_Missense_Mutation_p.P44L|SPRR2D_ENST00000360379.3_Missense_Mutation_p.P44L|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P44L			P22532	SPR2D_HUMAN	small proline-rich protein 2D	44	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGGGCAGGGCTGTGGACA	0.612000													39	96					0	0	0.001951	0	0
KPNA6	23633	broad.mit.edu	37	1	32626295	32626295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:32626295C>T	ENST00000373625.3	+	7	731	c.638C>T	c.(637-639)cCt>cTt	p.P213L	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.P218L|KPNA6_ENST00000537234.1_Missense_Mutation_p.P210L	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	213	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATCCTTAATCCTTTGTTAACG	0.463000													11	16					0	0	0.001368	0	0
GRM3	2913	broad.mit.edu	37	7	86469000	86469000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:86469000G>A	ENST00000361669.2	+	4	3269	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E596K|GRM3_ENST00000546348.1_Missense_Mutation_p.E316K|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	724					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGAGAAGCGGGAAACAGTCAT	0.498000													29	26					0	0	0.001271	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979347	111979347	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:111979347G>A	ENST00000374566.3	-	16	2005	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	496						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						CTGCGGTGAGGAACGGTGTGC	0.582000													18	12					0	0	0.006122	0	0
PMCH	5367	broad.mit.edu	37	12	102591410	102591410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:102591410C>T	ENST00000329406.4	-	1	213	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	47					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTCTGAAAGCCTTTCCCCAAC	0.343000													27	16					0	0	0.001061	0	0
TEX15	56154	broad.mit.edu	37	8	30699662	30699662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:30699662G>A	ENST00000256246.2	-	1	6946	c.6872C>T	c.(6871-6873)tCt>tTt	p.S2291F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2291										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)		CAACATCGTAGAAATACTAAA	0.338000													9	38					0	0	0.004482	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458985	120458985	+	Silent	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120458985G>T	ENST00000256646.2	-	34	6579	c.6360C>A	c.(6358-6360)gcC>gcA	p.A2120A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2120					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCTCCTTGGCAAGGTTAG	0.517000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				37	6519					0.00024832	0.000425783	0.000248	1	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158449913C>T	ENST00000368152.1	+	1	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000													74	79					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179426117	179426117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179426117G>A	ENST00000589042.1	-	326	84966	c.84742C>T	c.(84742-84744)Cct>Tct	p.P28248S	TTN_ENST00000342175.6_Missense_Mutation_p.P19375S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26607S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19183S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19308S|TTN_ENST00000342992.6_Missense_Mutation_p.P25680S|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26607	Ig-like 131.						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)			TCTCTTGCAGGGACTGGTTCA	0.413000													32	98					0	0	0.004289	0	0
KDM6B	23135	broad.mit.edu	37	17	7753486	7753486	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7753486C>T	ENST00000254846.5	+	13	4053	c.3664C>T	c.(3664-3666)Ctg>Ttg	p.L1222L	KDM6B_ENST00000448097.2_Silent_p.L1222L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1222					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GGCGGGCTCCCTGCGGCTCAG	0.577000													7	6					0	0	0.001984	0	0
TRIM47	91107	broad.mit.edu	37	17	73872477	73872477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73872477C>T	ENST00000254816.2	-	3	894	c.868G>A	c.(868-870)Gag>Aag	p.E290K	TRIM47_ENST00000587339.1_Missense_Mutation_p.E52K|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	290						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCCTCCTCGATGAAGCCC	0.682000													10	15					0	0	0.000978	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182073	128182073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:128182073C>T	ENST00000469083.1	-	2	2573	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	DNAJB8_ENST00000319153.3_Missense_Mutation_p.E6K			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	6	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CCCAGCACTTCGTAGTAGTTA	0.627000													18	52					0	0	0.001882	0	0
AXDND1	126859	broad.mit.edu	37	1	179497510	179497510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:179497510G>A	ENST00000367618.3	+	23	3046	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	887	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATTCATTGGAGAAGATGAAAA	0.413000													17	11					0	0	0.001882	0	0
RFPL1S	10740	broad.mit.edu	37	22	29833773	29833773	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:29833773G>A	ENST00000461286.2	-	0	4603					NR_002727.2																						AGAAATGGGGGTTATGCCTTG	0.502000													5	15					0	0	0.001168	0	0
ADCK3	56997	broad.mit.edu	37	1	227152872	227152872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:227152872C>T	ENST00000366779.1	+	8	3120	c.349C>T	c.(349-351)Cct>Tct	p.P117S	ADCK3_ENST00000366778.1_Missense_Mutation_p.P65S|ADCK3_ENST00000366776.1_Missense_Mutation_p.P42S|ADCK3_ENST00000366777.3_Missense_Mutation_p.P117S|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	117					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGGCCCAGCTCCTGCCTACGT	0.682000													5	17					0	0	0.000602	0	0
TMC1	117531	broad.mit.edu	37	9	75309495	75309495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:75309495G>A	ENST00000297784.5	+	7	641	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	TMC1_ENST00000396237.3_Missense_Mutation_p.R34Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R34Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	34	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						AAGCTACCTCGAAGAGAGAGC	0.448000													11	11					0	0	0.001855	0	0
TAAR5	9038	broad.mit.edu	37	6	132909851	132909851	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:132909851G>A	ENST00000258034.2	-	1	1026	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	325					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TCTGCGGTGAGAAGACCTTCT	0.473000													30	23					0	0	0.003755	0	0
RNF17	56163	broad.mit.edu	37	13	25374598	25374598	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:25374598A>T	ENST00000255324.5	+	13	1736	c.1684A>T	c.(1684-1686)Act>Tct	p.T562S	RNF17_ENST00000381921.1_Missense_Mutation_p.T562S|RNF17_ENST00000255325.5_Missense_Mutation_p.T563S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	562					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGAACCATATACTGAAGGGCT	0.378000													33	32					0	0	0.002096	0	0
POF1B	79983	broad.mit.edu	37	X	84606427	84606427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:84606427G>A	ENST00000262753.4	-	5	614	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H157Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	157							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						GGGAAGAAATGGCTTCCTCTT	0.289000													19	20					0	0	0.001216	0	0
KCNN3	3782	broad.mit.edu	37	1	154841962	154841962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154841962G>A	ENST00000271915.3	-	1	794	c.479C>T	c.(478-480)cCc>cTc	p.P160L		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	165						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTGCACCAGGGGGCTGGCCTG	0.647000													22	12					0	0	0.004656	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509892	41509892	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41509892G>A	ENST00000593831.1	+	0	42				CYP2B6_ENST00000598834.1_Intron|CYP2B6_ENST00000330446.5_Missense_Mutation_p.G13E|CYP2B6_ENST00000324071.4_Intron			P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6						cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCCTGGTGTGGATGTGATTGG	0.512000													6	16					0	0	0.001984	0	0
USP6	9098	broad.mit.edu	37	17	5042908	5042908	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:5042908C>T	ENST00000574788.1	+	22	3667	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	USP6_ENST00000332776.4_Silent_p.V479V|USP6_ENST00000250066.6_Silent_p.V479V|USP6_ENST00000304328.5_Silent_p.V162V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	479					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						GCTGCTGGGTCCGTGCCATAT	0.592000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								13	47					0	0	0.003163	0	0
SOX10	6663	broad.mit.edu	37	22	38369572	38369572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:38369572G>A	ENST00000396884.2	-	4	1613	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	SOX10_ENST00000360880.2_Missense_Mutation_p.P444L|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	444						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGGCCCTGAGGGGCTGGGGTC	0.672000													10	13					0	0	0.000978	0	0
PRCD	768206	broad.mit.edu	37	17	74538647	74538647	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74538647T>G	ENST00000586148.1	+	3	208	c.156T>G	c.(154-156)ccT>ccG	p.P52P	PRCD_ENST00000592014.1_Silent_p.P52P|PRCD_ENST00000592432.1_3'UTR|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	52					response to stimulus|visual perception	cytoplasm|integral to membrane											AGAAAGAACCTCTGAAGTAAG	0.597000													24	17					0	0	0.001512	0	0
CXCR4	7852	broad.mit.edu	37	2	136873224	136873224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136873224G>A	ENST00000409817.1	-	1	589	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	CXCR4_ENST00000241393.3_Missense_Mutation_p.P92S|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	92	Chemokine binding.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCCCAGAAGGGAAGCGTGATG	0.522000													16	33					0	0	0.003163	0	0
AXL	558	broad.mit.edu	37	19	41765666	41765666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41765666C>T	ENST00000301178.4	+	20	2732	c.2542C>T	c.(2542-2544)Cct>Tct	p.P848S	AXL_ENST00000359092.3_Missense_Mutation_p.P839S|AXL_ENST00000593513.1_Missense_Mutation_p.P580S	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	848						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCAGCCAGACCCTAAGGATTC	0.602000													26	8					0	0	0.004656	0	0
AGTR2	186	broad.mit.edu	37	X	115304028	115304028	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:115304028C>T	ENST00000371906.4	+	3	685	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	165					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ATATAGTTCCCCTTGTTTGGT	0.398000													41	59					0	0	0.002522	0	0
FLNB	2317	broad.mit.edu	37	3	58135686	58135686	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58135686G>A	ENST00000357272.4	+	37	6366	c.6201G>A	c.(6199-6201)ggG>ggA	p.G2067G	FLNB_ENST00000419752.2_Silent_p.G1887G|FLNB_ENST00000358537.3_Silent_p.G2043G|FLNB_ENST00000348383.5_Silent_p.G2067G|FLNB_ENST00000295956.4_Silent_p.G2067G|FLNB_ENST00000493452.1_Silent_p.G1874G|FLNB_ENST00000490882.1_Silent_p.G2098G|FLNB_ENST00000429972.2_Silent_p.G2056G			O75369	FLNB_HUMAN	filamin B, beta	2067	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGTGCCTGGGGTTTATATCG	0.547000													60	68					0	0	0.003610	0	0
ARID1B	57492	broad.mit.edu	37	6	157528639	157528639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:157528639C>T	ENST00000346085.5	+	20	6365	c.6364C>T	c.(6364-6366)Cgc>Tgc	p.R2122C	ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109C|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2109					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)		CGTTGGGGATCGCAAAAACCC	0.488000													82	121					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179457984	179457984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179457984C>T	ENST00000589042.1	-	299	59175	c.58951G>A	c.(58951-58953)Gaa>Aaa	p.E19651K	TTN_ENST00000342175.6_Missense_Mutation_p.E10778K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18010K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10586K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10711K|TTN_ENST00000342992.6_Missense_Mutation_p.E17083K|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18010	Fibronectin type-III 42.						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)			ACCCGGAATTCATACTGACAT	0.388000													27	69					0	0	0.005443	0	0
BIRC3	330	broad.mit.edu	37	11	102201752	102201752	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:102201752A>G	ENST00000263464.3	+	6	3854	c.1104A>G	c.(1102-1104)gaA>gaG	p.E368E	BIRC3_ENST00000532808.1_Silent_p.E368E	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	368					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AACCTGGAGAAGACCATTCAG	0.333000			T	MALT1	MALT								24	32					0	0	0.005443	0	0
ASF1B	55723	broad.mit.edu	37	19	14232369	14232369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:14232369G>A	ENST00000263382.3	-	3	876	c.377C>T	c.(376-378)cCg>cTg	p.P126L	ASF1B_ENST00000592798.1_Intron|ASF1B_ENST00000474890.1_Missense_Mutation_p.P126L	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	126	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CTTCATGGGCGGGTTCTCACG	0.542000													31	43					0	0	0.003755	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28194891	28194891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:28194891C>T	ENST00000527436.1	+	2	130	c.29C>T	c.(28-30)tCc>tTc	p.S10F	ZSCAN9_ENST00000531981.1_Missense_Mutation_p.S10F|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.S10F|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.S10F|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.S10F					zinc finger and SCAN domain containing 9																		GAGGTTTTATCCCTGGGTGTT	0.463000													7	42					0	0	0.004482	0	0
NUGGC	389643	broad.mit.edu	37	8	27931884	27931884	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27931884C>T	ENST00000413272.2	-	2	186		c.e2+1		NUGGC_ENST00000341513.6_Splice_Site	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		AAAGATGTTACCTGGATGCGG	0.428000													10	31					0	0	0.000978	0	0
TEX11	56159	broad.mit.edu	37	X	69945116	69945116	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:69945116A>G	ENST00000395889.2	-	13	1121	c.966T>C	c.(964-966)ctT>ctC	p.L322L	TEX11_ENST00000374333.2_Silent_p.L307L|TEX11_ENST00000344304.3_Silent_p.L322L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	322							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)					TCATACCTTCAAGGAGTTCTT	0.308000													57	3					0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26699765	26699765	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:26699765G>A	ENST00000272371.2	-	22	2796	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	OTOF_ENST00000339598.3_Silent_p.F143F|OTOF_ENST00000402415.3_Silent_p.F200F|OTOF_ENST00000338581.6_Silent_p.F143F|OTOF_ENST00000403946.3_Silent_p.F890F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	890					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTTAAGGAAGAGCGTCT	0.642000													6	16					0	0	0.003080	0	0
NES	10763	broad.mit.edu	37	1	156642501	156642501	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156642501G>A	ENST00000368223.3	-	4	1611	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	493	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCTCGGCATATGCTGA	0.537000													60	57					0	0	0.003610	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068407	57068407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:57068407C>T	ENST00000532437.1	-	9	5391	c.5080G>A	c.(5080-5082)Gga>Aga	p.G1694R	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1694R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1694	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTTCCCAGTCCTGGGACCTTG	0.597000													35	9					0	0	0.004878	0	0
DCC	1630	broad.mit.edu	37	18	50683829	50683829	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:50683829G>A	ENST00000442544.2	+	8	1981	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	DCC_ENST00000412726.1_Silent_p.A303A|DCC_ENST00000581580.1_Silent_p.A110A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	455	Fibronectin type-III 1.				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)		CTGCAGAAGCGAAAGGGAACA	0.502000													35	25					0	0	0.003271	0	0
TINAG	27283	broad.mit.edu	37	6	54173453	54173453	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:54173453C>T	ENST00000259782.4	+	1	201	c.105C>T	c.(103-105)ttC>ttT	p.F35F	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Silent_p.F31F|TINAG_ENST00000370864.3_Silent_p.F17F	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	35					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGGCTTATTTCACTAGGAATC	0.393000													39	37					0	0	0.005524	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18716344G>A	ENST00000433979.1	+	27	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1272K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1231K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1231	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCAACAACGAAACAAGCCT	0.418000													11	11					0	0	0.000673	0	0
ATP2A3	489	broad.mit.edu	37	17	3850765	3850765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:3850765C>T	ENST00000309890.7	-	8	1165	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M	ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000397043.3_Missense_Mutation_p.V339M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V339M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V339M|ATP2A3_ENST00000352011.3_Missense_Mutation_p.V339M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V339M	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	339					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGGTCTCCACGGACGGCAGG	0.657000													24	25					0	0	0.003954	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244843	1244843	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1244843C>T	ENST00000324642.3	+	11	1740	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	539					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTCCTGTTCTGGAAGCCAC	0.622000													10	30					0	0	0.000673	0	0
COL5A1	1289	broad.mit.edu	37	9	137704451	137704451	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:137704451G>A	ENST00000371817.3	+	48	4159	c.3744_splice	c.e48-1	p.G1249_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1249	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)		CTTTTCCTAGGGCCCCCCGGG	0.622000													4	6					0	0	0.000248	0	0
PSMC5	5705	broad.mit.edu	37	17	61907655	61907655	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61907655C>T	ENST00000310144.6	+	6	654	c.346C>T	c.(346-348)Cta>Tta	p.L116L	PSMC5_ENST00000580864.1_Silent_p.L108L|PSMC5_ENST00000581882.1_Silent_p.L108L|PSMC5_ENST00000375812.4_Silent_p.L108L	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	116					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CCGGGTGGCTCTAAGGAATGA	0.517000													20	44					0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237802470	237802470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:237802470C>T	ENST00000366574.2	+	46	7401	c.7084C>T	c.(7084-7086)Ccc>Tcc	p.P2362S	RYR2_ENST00000542537.1_Missense_Mutation_p.P2346S|RYR2_ENST00000360064.6_Missense_Mutation_p.P2360S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2362	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGATGGTCCCTCACCAAA	0.438000													11	13					0	0	0.001368	0	0
CUL7	9820	broad.mit.edu	37	6	43014643	43014643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:43014643G>A	ENST00000535468.1	-	10	2710	c.2624C>T	c.(2623-2625)aCc>aTc	p.T875I	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Missense_Mutation_p.T791I	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	791	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGGATGTTGGTGATGAGTTT	0.572000													26	38					0	0	0.003954	0	0
OR8D2	283160	broad.mit.edu	37	11	124189215	124189215	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:124189215C>T	ENST00000357438.2	-	1	969	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CATCCTTGTTCCTCAGGCTAT	0.428000													23	32					0	0	0.002780	0	0
WDR49	151790	broad.mit.edu	37	3	167277918	167277918	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167277918G>A	ENST00000308378.3	-	5	890	c.585C>T	c.(583-585)atC>atT	p.I195I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.I248I|WDR49_ENST00000476376.1_Silent_p.I20I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	195										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATAGTGCTGATTTCTGCGT	0.458000													54	50					0	0	0.003610	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010570	73010570	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:73010570C>T	ENST00000313375.3	-	13	2018	c.1971G>A	c.(1969-1971)gcG>gcA	p.A657A	MLXIPL_ENST00000395189.1_Silent_p.A564A|MLXIPL_ENST00000354613.1_Silent_p.A655A|MLXIPL_ENST00000434326.1_Silent_p.A563A|MLXIPL_ENST00000429400.2_Silent_p.A657A|MLXIPL_ENST00000414749.2_Silent_p.A655A	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	657					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTTCTGCTCCGCGGAGATGT	0.632000													8	36					0	0	0.000673	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066428	70066428	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:70066428C>T	ENST00000446444.1	-	6	1328	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	440					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCATAATATTCTCTTTATATC	0.348000													37	44					0	0	0.001287	0	0
ZNF74	7625	broad.mit.edu	37	22	20760718	20760718	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:20760718C>T	ENST00000400451.2	+	5	1909	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	ZNF74_ENST00000356671.5_Silent_p.I465I|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Silent_p.I433I	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	465					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACCGGCGCATCCACAGCGGCG	0.657000													8	31					0	0	0.003080	0	0
E2F8	79733	broad.mit.edu	37	11	19259529	19259529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:19259529G>A	ENST00000527884.1	-	3	398	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.P56S	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	56					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGTCCACGGCTCTCCCTGA	0.517000													22	129					0	0	0.002299	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546248	112546248	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:112546248C>T	ENST00000488794.1	-	5	922	c.333G>A	c.(331-333)ggG>ggA	p.G111G	CD200R1L_ENST00000448932.1_Silent_p.G111G|CD200R1L_ENST00000398214.1_Silent_p.G132G			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	132	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATGGAAATTCCCATCAGGTG	0.463000													37	45					0	0	0.001485	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890584	63890584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:63890584G>A	ENST00000334025.2	+	4	837	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	171					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CAAAATTGAGGAGAGTGCTGA	0.478000													41	26					0	0	0.002222	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:56185123C>T	ENST00000312253.1	-	1	585	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000													17	34					0	0	0.004007	0	0
CNTN3	5067	broad.mit.edu	37	3	74383907	74383907	+	Silent	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:74383907A>C	ENST00000263665.6	-	12	1674	c.1647T>G	c.(1645-1647)tcT>tcG	p.S549S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	549	Ig-like C2-type 6.				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)		TCTCAAAGTGAGATCCATCTT	0.428000													23	24					0	0	0.005443	0	0
PHLPP2	23035	broad.mit.edu	37	16	71701093	71701093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:71701093G>A	ENST00000393524.2	-	11	2505	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	PHLPP2_ENST00000568954.1_Missense_Mutation_p.S591F|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S591F|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S591F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S626F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	660						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAAGGCCTTGGAGAAGAGGGT	0.463000													43	48					0	0	0.003610	0	0
OR1L8	138881	broad.mit.edu	37	9	125330187	125330187	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125330187G>A	ENST00000304865.2	-	1	651	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATATGGAAGAGCAGGACAATT	0.438000													28	22					0	0	0.001061	0	0
LRP1B	53353	broad.mit.edu	37	2	141264456	141264456	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141264456G>A	ENST00000389484.3	-	53	9401	c.8430C>T	c.(8428-8430)ttC>ttT	p.F2810F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2810	LDL-receptor class A 18.				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)		TATGGCACATGAAAGCATTTT	0.388000										TSP Lung(27;0.18)			38	21					0	0	0.003755	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829151	67829151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:67829151C>T	ENST00000433211.1	-	15	2248	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	CTNNA3_ENST00000373735.1_Missense_Mutation_p.E31K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E692K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	692					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCCCATATCTCAATCTCAGCA	0.398000													34	89					0	0	0.005524	0	0
PDE6C	5146	broad.mit.edu	37	10	95400236	95400236	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:95400236G>A	ENST00000371447.3	+	13	1797	c.1659G>A	c.(1657-1659)agG>agA	p.R553R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	553					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACACTGTGAGGAAAGGGTACC	0.443000													17	74					0	0	0.000958	0	0
ADAM28	10863	broad.mit.edu	37	8	24184083	24184083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:24184083G>A	ENST00000265769.4	+	10	1017	c.907G>A	c.(907-909)Gga>Aga	p.G303R	ADAM28_ENST00000540823.1_Missense_Mutation_p.G70R|ADAM28_ENST00000397649.3_Missense_Mutation_p.G50R|ADAM28_ENST00000437154.2_Missense_Mutation_p.G303R|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	303	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGAACTTGCTGGAACGACTGT	0.353000													30	102					0	0	0.001786	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521335	27521335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:27521335G>A	ENST00000544915.1	+	2	391	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ARNTL2_ENST00000395901.2_Missense_Mutation_p.D69N|ARNTL2_ENST00000261178.5_Missense_Mutation_p.D58N|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000266503.5_Missense_Mutation_p.D58N|ARNTL2_ENST00000311001.5_Missense_Mutation_p.D58N|ARNTL2_ENST00000542388.1_Missense_Mutation_p.D21N|ARNTL2_ENST00000546179.1_Missense_Mutation_p.D69N	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	58					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAGTGATTCAGACCCATCCCA	0.433000													32	34					0	0	0.003271	0	0
PTPRK	5796	broad.mit.edu	37	6	128306883	128306883	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:128306883G>A	ENST00000368227.3	-	23	3651	c.3285C>T	c.(3283-3285)ccC>ccT	p.P1095P	PTPRK_ENST00000532331.1_Silent_p.P1100P|PTPRK_ENST00000368226.4_Silent_p.P1078P|PTPRK_ENST00000368215.3_Silent_p.P1077P|PTPRK_ENST00000368210.3_Silent_p.P1096P|PTPRK_ENST00000368207.3_Silent_p.P1110P|PTPRK_ENST00000368213.5_Silent_p.P1084P			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1077	Tyrosine-protein phosphatase 1.				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)		GTACAACGATGGGGCCAGCAC	0.478000													15	39					0	0	0.004007	0	0
DAPK2	23604	broad.mit.edu	37	15	64200735	64200735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:64200735C>T	ENST00000261891.3	-	11	1102	c.1097G>A	c.(1096-1098)aGg>aAg	p.R366K	DAPK2_ENST00000457488.1_Missense_Mutation_p.R366K			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	366					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GGTGCTGCTCCTCCTCCGTGG	0.607000													4	4					0	0	0.000602	0	0
AGA	175	broad.mit.edu	37	4	178361493	178361493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:178361493G>A	ENST00000264595.2	-	2	342	c.215C>T	c.(214-216)tCt>tTt	p.S72F	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	72			S -> P (in AGU; Arab. Specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum).		asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AAAGCCTACAGAGCCGTCACA	0.498000													85	55					0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	137872824	137872824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137872824C>T	ENST00000409968.1	+	5	1508	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.Q444*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.Q413*|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTACTGTGCCCAGAGCGTACC	0.612000													6	3					0	0	0.001168	0	0
CHDH	55349	broad.mit.edu	37	3	53853615	53853615	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:53853615G>A	ENST00000315251.5	-	7	1644	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	403					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGGGATGGCAGGAAATGGAAC	0.627000													8	19					0	0	0.004482	0	0
LFNG	3955	broad.mit.edu	37	7	2565153	2565153	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:2565153C>T	ENST00000222725.5	+	4	707	c.687C>T	c.(685-687)agC>agT	p.S229S	LFNG_ENST00000338732.3_Silent_p.S100S|LFNG_ENST00000402045.1_Silent_p.S100S|LFNG_ENST00000402506.1_Silent_p.S158S|LFNG_ENST00000359574.3_Silent_p.S229S	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	229					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCAAGCCCAGCCTGGACAGGC	0.692000													5	7					0	0	0.000602	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912776	94912776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94912776C>T	ENST00000334708.3	-	3	873	c.809G>A	c.(808-810)gGa>gAa	p.G270E	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	270					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAAGGCATTTCCTCTGTATTC	0.542000													20	47					0	0	0.001523	0	0
PLCG2	5336	broad.mit.edu	37	16	81962178	81962178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:81962178C>T	ENST00000359376.3	+	24	2744	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	844					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAAGACAATCCCTTAGGGTC	0.428000													38	33					0	0	0.002222	0	0
DPPA4	55211	broad.mit.edu	37	3	109052816	109052816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:109052816C>T	ENST00000335658.6	-	2	133	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	27						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATCCTCTTCCCTCGACTTC	0.458000													18	24					0	0	0.000958	0	0
OSGIN1	29948	broad.mit.edu	37	16	83992977	83992977	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:83992977C>T	ENST00000343939.2	+	4	812	c.429C>T	c.(427-429)gcC>gcT	p.A143A	OSGIN1_ENST00000361711.3_Silent_p.A60A|OSGIN1_ENST00000393306.1_Silent_p.A60A|OSGIN1_ENST00000565123.1_Silent_p.A60A			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	143					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCACCGAGGCCCCGGGGGTCT	0.627000													5	11					0	0	0.001984	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406388	38406388	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38406388C>T	ENST00000351773.3	+	8	1139	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ZNF37A_ENST00000361085.4_Silent_p.F103F	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	103						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						GAAAATGTTTCTGTGATGAAA	0.318000													68	91					0	0	0.003610	0	0
GNG2	54331	broad.mit.edu	37	14	52433367	52433367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:52433367C>T	ENST00000335281.4	+	3	584	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	GNG2_ENST00000554736.1_Missense_Mutation_p.P60S|GNG2_ENST00000555472.1_Missense_Mutation_p.P60S|GNG2_ENST00000556752.1_Missense_Mutation_p.P60S|GNG2_ENST00000553432.1_Missense_Mutation_p.P91S|GNG2_ENST00000557376.1_Missense_Mutation_p.P99S|GNG2_ENST00000556766.1_Missense_Mutation_p.P60S|GNG2_ENST00000553299.1_3'UTR	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	60					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTCAGAAAACCCGTTTAGGGA	0.522000													21	71					0	0	0.002299	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025191	16025191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16025191C>T	ENST00000326742.7	-	10	1257	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	CYP4F11_ENST00000402119.3_Missense_Mutation_p.D441N|CYP4F11_ENST00000248041.7_Missense_Mutation_p.D441N			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	0					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CGGAAGGGGTCGTAGACCTGC	0.587000													17	73					0	0	0.004990	0	0
LYN	4067	broad.mit.edu	37	8	56864641	56864641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:56864641C>T	ENST00000520220.2	+	7	815	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	LYN_ENST00000519728.1_Missense_Mutation_p.P202S	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	202	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AATCACTTTTCCCTGTATCAG	0.363000													8	48					0	0	0.004482	0	0
PARVG	64098	broad.mit.edu	37	22	44602292	44602292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:44602292G>A	ENST00000422871.1	+	14	1406	c.982G>A	c.(982-984)Gga>Aga	p.G328R	PARVG_ENST00000415224.1_Missense_Mutation_p.G328R|PARVG_ENST00000444313.2_Missense_Mutation_p.G328R	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	328					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GACGCCCCATGGAGCCCCGAA	0.622000													16	7					0	0	0.004990	0	0
PAK7	57144	broad.mit.edu	37	20	9538296	9538296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:9538296C>T	ENST00000378429.3	-	8	2248	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	PAK7_ENST00000378423.1_Missense_Mutation_p.D568N|PAK7_ENST00000353224.5_Missense_Mutation_p.D568N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	568	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTTTTTATGTCCCTGTGAATC	0.458000													32	25					0	0	0.002836	0	0
ADAM18	8749	broad.mit.edu	37	8	39581281	39581281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:39581281G>A	ENST00000265707.5	+	19	2077	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ADAM18_ENST00000379866.1_Missense_Mutation_p.E654K|ADAM18_ENST00000541111.1_Missense_Mutation_p.E92K|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	678					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTTTATACTGAAAAAGGCTA	0.299000													50	45					0	0	0.003610	0	0
PLVAP	83483	broad.mit.edu	37	19	17476802	17476802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:17476802G>A	ENST00000252590.4	-	3	533	c.472C>T	c.(472-474)Ctc>Ttc	p.L158F		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	158						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCATGAAGAGCAAGGCTAAG	0.557000													9	26					0	0	0.004482	0	0
SIM2	6493	broad.mit.edu	37	21	38117419	38117419	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38117419C>T	ENST00000290399.6	+	10	2171	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	SIM2_ENST00000430056.3_Silent_p.L520L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	520	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCACAGCCTGGTGCCAAG	0.627000													6	6					0	0	0.001984	0	0
OTX2	5015	broad.mit.edu	37	14	57268592	57268592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:57268592C>T	ENST00000339475.5	-	5	1031	c.755G>A	c.(754-756)gGa>gAa	p.G252E	OTX2_ENST00000408990.3_Missense_Mutation_p.G244E|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.G244E	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	244					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCTTGAAGCTCCATATCCCTG	0.502000													33	27					0	0	0.001287	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020884	51020884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51020884C>T	ENST00000599957.1	-	3	2283	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	LRRC4B_ENST00000389201.3_Missense_Mutation_p.E696K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	696						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)		AGCAGAGGTTCGTGGATGGAG	0.697000													5	16					0	0	0.001168	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743840	26743840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:26743840G>A	ENST00000529632.2	+	11	2564	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	SEZ6L_ENST00000343706.4_Missense_Mutation_p.D790N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D790N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.D563N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D790N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.D563N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D790N|SEZ6L_ENST00000411842.2_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	790	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCCAGTGGGACCTCAGCTG	0.562000													18	46					0	0	0.002780	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691762	189691762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189691762C>T	ENST00000319332.5	-	10	1681	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G314E	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	495					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGTTTTTCCTCTGTATCC	0.383000													69	105					0	0	0.003610	0	0
UMODL1	89766	broad.mit.edu	37	21	43508581	43508581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43508581C>T	ENST00000400427.1	+	5	961	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	UMODL1_ENST00000408989.2_Nonsense_Mutation_p.Q261*|UMODL1_ENST00000408910.2_Nonsense_Mutation_p.Q261*|UMODL1_ENST00000400424.1_Nonsense_Mutation_p.Q189*	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	261						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GATCAGCGTCCAGGTGCAAGG	0.612000													9	13					0	0	0.000673	0	0
IGHG3	3502	broad.mit.edu	37	14	106236270	106236270	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106236270C>T	ENST00000390551.2	-	0	533																											ATAAGGGTATCCTTGGGTTTT	0.597000													30	28					0	0	0.001061	0	0
VAC14	55697	broad.mit.edu	37	16	70731086	70731086	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:70731086G>A	ENST00000261776.5	-	16	2171	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	VAC14_ENST00000536184.2_Silent_p.F69F	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	637					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCTGGGTGAGGAAGCAGAGGG	0.607000													7	16					0	0	0.004482	0	0
CDK14	5218	broad.mit.edu	37	7	90492554	90492554	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:90492554G>A	ENST00000406263.1	+	5	913	c.471G>A	c.(469-471)aaG>aaA	p.K157K	CDK14_ENST00000436577.2_Silent_p.K74K|CDK14_ENST00000380050.3_Silent_p.K203K|CDK14_ENST00000265741.3_Silent_p.K185K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	203	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCCATACCAAGGAGACGCTGA	0.303000													37	47					0	0	0.002222	0	0
RNF17	56163	broad.mit.edu	37	13	25374599	25374599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:25374599C>T	ENST00000255324.5	+	13	1737	c.1685C>T	c.(1684-1686)aCt>aTt	p.T562I	RNF17_ENST00000381921.1_Missense_Mutation_p.T562I|RNF17_ENST00000255325.5_Missense_Mutation_p.T563I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	562					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAACCATATACTGAAGGGCTG	0.383000													33	32					0	0	0.002096	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581143	234581143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:234581143C>T	ENST00000354728.4	+	1	645	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		GCTCCTCTTTCCTATGTCCCC	0.473000													82	54					0	0	0.003610	0	0
NOBOX	135935	broad.mit.edu	37	7	144098962	144098962	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:144098962C>T	ENST00000467773.1	-	3	291	c.292_splice	c.e3+1	p.G98_splice	NOBOX_ENST00000483238.1_Splice_Site_p.G98_splice|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	98					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)					GGGTACTCACCCCTTGTGAGT	0.453000													19	12					0	0	0.001882	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634318	70634318	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:70634318G>A	ENST00000381269.2	-	2	1575	c.822C>T	c.(820-822)atC>atT	p.I274I	SLC8A3_ENST00000356921.2_Silent_p.I274I|SLC8A3_ENST00000534137.1_Silent_p.I274I|SLC8A3_ENST00000528359.1_Silent_p.I274I|SLC8A3_ENST00000357887.3_Silent_p.I274I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	274					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTGTCTCTATGATAATTCCTC	0.483000													12	33					0	0	0.002450	0	0
NBPF1	55672	broad.mit.edu	37	1	16892268	16892268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:16892268G>A	ENST00000430580.2	-	27	3811	c.2924C>T	c.(2923-2925)cCt>cTt	p.P975L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	975	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)		CAAGACTTCAGGCTCTACTGC	0.488000													24	540					0	0	0.001287	0	0
ZNF98	148198	broad.mit.edu	37	19	22574587	22574587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22574587G>A	ENST00000357774.5	-	4	1571	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H484Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCTCCAGTATGAATTACCTTA	0.378000													21	35					0	0	0.005443	0	0
TENM1	10178	broad.mit.edu	37	X	123630927	123630927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:123630927C>T	ENST00000422452.2	-	20	3697	c.3634G>A	c.(3634-3636)Gac>Aac	p.D1212N	TENM1_ENST00000371130.3_Missense_Mutation_p.D1212N|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAATTGAAGTCGCCAACATAC	0.443000													22	17					0	0	0.002780	0	0
KRT71	112802	broad.mit.edu	37	12	52944001	52944001	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:52944001C>T	ENST00000267119.5	-	2	537	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	156	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCTCCAGTACCTGGTTCTGCT	0.557000													14	39					0	0	0.003163	0	0
PDGFC	56034	broad.mit.edu	37	4	157732075	157732075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:157732075C>T	ENST00000502773.1	-	3	899	c.409G>A	c.(409-411)Gga>Aga	p.G137R	PDGFC_ENST00000542208.1_Intron|PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.G137R	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	137	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATTTGATTTCCTTTAGAAATC	0.393000													30	29					0	0	0.001512	0	0
MAN2A1	4124	broad.mit.edu	37	5	109120469	109120469	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:109120469C>T	ENST00000261483.4	+	10	2654	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	534					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTACTATTTCGCCCTGAGAC	0.333000													11	35					0	0	0.000673	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826965	96826965	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:96826965C>T	ENST00000371270.3	-	3	575	c.481_splice	c.e3+1	p.A161_splice	CYP2C8_ENST00000535898.1_Splice_Site_p.A59_splice|CYP2C8_ENST00000539050.1_Splice_Site_p.A75_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	161					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGTCACCCACCCTTGGTTTTT	0.507000													29	77					0	0	0.002445	0	0
ANGPT4	51378	broad.mit.edu	37	20	896618	896618	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:896618C>T	ENST00000381922.3	-	1	342	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ANGPT4_ENST00000546022.1_Silent_p.G80G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	80					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						TGGGCAACTTCCCCAGGTGCA	0.622000													21	24					0	0	0.002299	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599501	136599501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:136599501G>A	ENST00000531224.1	-	4	770	c.518C>T	c.(517-519)cCc>cTc	p.P173L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.P171L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P171L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P173L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P171L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P173L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	173					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)		CTCTTCTTGGGGTTCCCCTTC	0.403000													46	143					0	0	0.003610	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214498	8214498	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:8214498C>T	ENST00000539824.1	+	4	464	c.90C>T	c.(88-90)ctC>ctT	p.L30L	SH3TC1_ENST00000245105.3_Silent_p.L106L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	106							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGCAGACCCTCCGGGGCCAGC	0.677000													5	6					0	0	0.001984	0	0
FIG4	9896	broad.mit.edu	37	6	110146339	110146339	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:110146339C>T	ENST00000230124.3	+	23	2719	c.2595C>T	c.(2593-2595)ccC>ccT	p.P865P	FIG4_ENST00000441478.2_Silent_p.P559P	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	865					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGTTCAGCCCCCAAGAGTAG	0.448000													30	23					0	0	0.002096	0	0
MEI1	150365	broad.mit.edu	37	22	42128505	42128505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:42128505C>T	ENST00000401548.3	+	11	1269	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.S150L|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	410							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						TTCACAAGCTCAGCCATGTGC	0.552000													17	23					0	0	0.001216	0	0
FLG2	388698	broad.mit.edu	37	1	152327430	152327430	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152327430C>T	ENST00000388718.5	-	3	2904	c.2832G>A	c.(2830-2832)caG>caA	p.Q944Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	944	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)			ATCCAAAAGTCTGTCCTGAAC	0.493000													85	259					0	0	0.003610	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351209	117351209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:117351209C>T	ENST00000321322.6	-	14	2915	c.2914G>A	c.(2914-2916)Gac>Aac	p.D972N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D702N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	912	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGTTCCCGTCGAATCGCTGG	0.637000													6	1					0	0	0.001168	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178457	42178457	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42178457C>T	ENST00000320955.6	-	7	1223	c.996G>A	c.(994-996)cgG>cgA	p.R332R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	332					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)		CTGGAAAATCCCGCGCCTCCA	0.627000													13	10					0	0	0.001855	0	0
TACC2	10579	broad.mit.edu	37	10	123970317	123970317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123970317G>A	ENST00000369005.1	+	9	6717	c.6377G>A	c.(6376-6378)cGa>cAa	p.R2126Q	TACC2_ENST00000369004.3_Missense_Mutation_p.R204Q|TACC2_ENST00000358010.1_Missense_Mutation_p.R272Q|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Missense_Mutation_p.R204Q|TACC2_ENST00000515273.1_Missense_Mutation_p.R2130Q|TACC2_ENST00000453444.2_Missense_Mutation_p.R2130Q|TACC2_ENST00000515603.1_Missense_Mutation_p.R2081Q|TACC2_ENST00000334433.3_Missense_Mutation_p.R2126Q|TACC2_ENST00000360561.3_Missense_Mutation_p.R204Q|TACC2_ENST00000513429.1_Missense_Mutation_p.R272Q|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.R204Q	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2126						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)				ACCCTTAAGCGAACTAAAAAA	0.532000													16	59					0	0	0.004990	0	0
GCSAML	148823	broad.mit.edu	37	1	247712378	247712378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247712378G>A	ENST00000366490.3	+	4	405	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron					germinal center-associated, signaling and motility-like																		GCAAGAGCACGAACCCGTGGT	0.547000													9	7					0	0	0.004482	0	0
DBF4	10926	broad.mit.edu	37	7	87537442	87537442	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:87537442C>T	ENST00000265728.1	+	12	2493	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	663					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)				CAGCGTTTTTCTCGTCCCCTT	0.299000													13	31					0	0	0.002450	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036309	71036309	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:71036309G>A	ENST00000333538.5	+	6	1636	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	334	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGTCAACAGGAAGTTCTTCG	0.502000													37	55					0	0	0.004878	0	0
TSGA13	114960	broad.mit.edu	37	7	130357685	130357685	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:130357685T>C	ENST00000456951.1	-	7	1270	c.419A>G	c.(418-420)aAc>aGc	p.N140S	TSGA13_ENST00000356588.3_Missense_Mutation_p.N140S			Q96PP4	TSG13_HUMAN	testis specific, 13	140										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CAGCCAGAGGTTCTCAGTGGG	0.468000													230	248					0	0	0.003610	0	0
CLCN7	1186	broad.mit.edu	37	16	1505732	1505732	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:1505732G>A	ENST00000382745.4	-	11	1586	c.981_splice	c.e11+1	p.I327_splice	CLCN7_ENST00000448525.1_Splice_Site_p.I303_splice|CLCN7_ENST00000262318.8_Splice_Site_p.I303_splice	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	327						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGAACTTACGATCCTCCAGG	0.637000													7	41					0	0	0.004482	0	0
PCSK5	5125	broad.mit.edu	37	9	78808218	78808218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:78808218C>T	ENST00000376752.4	+	21	3169	c.2692C>T	c.(2692-2694)Cgg>Tgg	p.R898W	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	898	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCTGTGCCAACGGAAGGTTCT	0.433000													20	20					0	0	0.002780	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855807	79855807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:79855807C>T	ENST00000338682.3	-	5	704	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	11						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGGAATTTCCTTCACTTGA	0.453000													15	9					0	0	0.006122	0	0
PAPSS2	9060	broad.mit.edu	37	10	89472915	89472915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:89472915G>A	ENST00000361175.4	+	3	598	c.229G>A	c.(229-231)Gat>Aat	p.D77N	PAPSS2_ENST00000427144.2_Missense_Mutation_p.D81N|PAPSS2_ENST00000456849.1_Missense_Mutation_p.D77N|PAPSS2_ENST00000482258.1_3'UTR	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	77					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)		TTACTCCCTGGATGGGGACAA	0.498000													48	43					0	0	0.003610	0	0
FAM127C	441518	broad.mit.edu	37	X	134156298	134156298	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:134156298C>T	ENST00000391440.1	-	1	261	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	64										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAACGTCACCTTCAGGGCGT	0.607000													10	16					0	0	0.000978	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221816	1221816	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1221816G>A	ENST00000304460.10	+	12	1758	c.1701_splice	c.e12-1	p.E568_splice		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	568					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCTCCCCAGGAGGAATTTCC	0.592000													10	18					0	0	0.000443	0	0
SCEL	8796	broad.mit.edu	37	13	78130781	78130781	+	Missense_Mutation	SNP	G	G	A	rs142444600	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:78130781G>A	ENST00000535157.1	+	3	264	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SCEL_ENST00000377246.3_Missense_Mutation_p.E32K|SCEL_ENST00000349847.3_Missense_Mutation_p.E32K	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	32					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGATTTTCACGAGGTGAACAA	0.448000													39	126					0	0	0.004289	0	0
TAAR8	83551	broad.mit.edu	37	6	132874774	132874774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:132874774C>T	ENST00000275200.1	+	1	943	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	315						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTATTTTATCCTTGGTTTAG	0.333000													48	62					0	0	0.003610	0	0
C17orf67	339210	broad.mit.edu	37	17	54892252	54892252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:54892252C>T	ENST00000397861.2	-	6	1413	c.134G>A	c.(133-135)gGa>gAa	p.G45E	C17orf67_ENST00000575658.1_Missense_Mutation_p.G69E|C17orf67_ENST00000397862.2_Missense_Mutation_p.G69E			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	69						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					ATCGGGGAATCCGGGTTTGCT	0.498000													122	373					0	0	0.003610	0	0
MAEL	84944	broad.mit.edu	37	1	166974589	166974589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:166974589G>A	ENST00000367872.4	+	8	1044	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R236Q	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	267					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTTGGATTCGAAGCCTCCTA	0.403000													17	44					0	0	0.004007	0	0
HECTD1	25831	broad.mit.edu	37	14	31570189	31570189	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:31570189T>A	ENST00000399332.1	-	43	8268	c.7780A>T	c.(7780-7782)Atg>Ttg	p.M2594L	HECTD1_ENST00000553700.1_Missense_Mutation_p.M2594L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2594	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CGCTCTCTCATGATCTCCTCG	0.418000													36	44					0	0	0.004289	0	0
PRDM15	63977	broad.mit.edu	37	21	43256264	43256264	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43256264C>G	ENST00000422911.1	-	10	1448	c.1347G>C	c.(1345-1347)gaG>gaC	p.E449D	PRDM15_ENST00000269844.3_Missense_Mutation_p.E778D|PRDM15_ENST00000398548.1_Missense_Mutation_p.E449D|PRDM15_ENST00000538201.1_Missense_Mutation_p.E412D|PRDM15_ENST00000447207.2_Missense_Mutation_p.E412D			P57071	PRD15_HUMAN	PR domain containing 15	778	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTTTAGGCTCTCTTTGCGGC	0.488000													23	21					0	0	0.001512	0	0
NXF4	55999	broad.mit.edu	37	X	101818258	101818258	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:101818258G>A	ENST00000360035.2	+	0	848					NR_002216.1															endometrium(2)|lung(8)	10						AGTCTGCCTGGAAAGGAGACT	0.567000													60	1					0	0	0.003610	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458768	100458768	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100458768C>T	ENST00000354161.3	+	10	1352	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	SLC12A9_ENST00000428758.1_Silent_p.L409L|SLC12A9_ENST00000415287.1_Silent_p.L320L|SLC12A9_ENST00000275729.3_Silent_p.L320L|SLC12A9_ENST00000540482.1_Silent_p.L409L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	409						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTGGTGCTCCTGGCTGGGA	0.597000													32	31					0	0	0.002836	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32521160	32521160	+	RNA	SNP	C	C	T	rs62621247	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32521160C>T	ENST00000411500.1	-	0	867					NR_001298.1																						TACCTGTTGGCTGAAGTCCAG	0.408000													4	16					0	0	0.000602	0	0
ZBBX	79740	broad.mit.edu	37	3	167039934	167039934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167039934C>T	ENST00000392766.2	-	12	1294	c.954G>A	c.(952-954)atG>atA	p.M318I	ZBBX_ENST00000392764.1_Missense_Mutation_p.M289I|ZBBX_ENST00000392767.2_Missense_Mutation_p.M318I|ZBBX_ENST00000307529.5_Missense_Mutation_p.M318I|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.M318I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	318						intracellular	zinc ion binding			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						ATAATTTTTCCATATAGGATA	0.289000													28	31					0	0	0.001512	0	0
ARNTL	406	broad.mit.edu	37	11	13388252	13388252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:13388252C>T	ENST00000389708.3	+	11	948	c.593C>T	c.(592-594)cCt>cTt	p.P198L	ARNTL_ENST00000401424.1_Missense_Mutation_p.P155L|ARNTL_ENST00000403510.3_Missense_Mutation_p.P155L|ARNTL_ENST00000396441.3_Missense_Mutation_p.P198L|ARNTL_ENST00000389707.4_Missense_Mutation_p.P198L|ARNTL_ENST00000403290.1_Missense_Mutation_p.P198L|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403482.3_Missense_Mutation_p.P196L|ARNTL_ENST00000361003.4_Missense_Mutation_p.P198L			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	198	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TACCTGCATCCTAAAGATATT	0.458000													55	93					0	0	0.003610	0	0
GPR128	84873	broad.mit.edu	37	3	100373774	100373774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:100373774C>T	ENST00000273352.3	+	12	1743	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.S197F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTGAAAACTCCAATAAGAAC	0.383000													27	40					0	0	0.001061	0	0
PNRC1	10957	broad.mit.edu	37	6	89790785	89790785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:89790785C>T	ENST00000336032.3	+	1	289	c.172C>T	c.(172-174)Cct>Tct	p.P58S	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCTCTTCCTCCCTCATTTCCT	0.701000										Multiple Myeloma(7;0.094)			14	14					0	0	0.004007	0	0
ANO1	55107	broad.mit.edu	37	11	70009440	70009440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:70009440G>A	ENST00000355303.5	+	19	2249	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	ANO1_ENST00000316296.5_Missense_Mutation_p.M590I|ANO1_ENST00000398543.2_Missense_Mutation_p.M502I|ANO1_ENST00000538023.1_Missense_Mutation_p.M648I|ANO1_ENST00000531349.1_Missense_Mutation_p.M357I|ANO1_ENST00000530676.1_Missense_Mutation_p.M502I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	648					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTTCCGAATGGAAGAGGTAA	0.502000													12	27					0	0	0.002450	0	0
CGNL1	84952	broad.mit.edu	37	15	57753911	57753911	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:57753911C>T	ENST00000281282.5	+	8	2302	c.2224C>T	c.(2224-2226)Ctg>Ttg	p.L742L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	742						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTTCAAGATCTGCTGATTGC	0.498000													25	76					0	0	0.001061	0	0
SIN3A	25942	broad.mit.edu	37	15	75676624	75676624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:75676624G>A	ENST00000394947.3	-	17	3490	c.3176C>T	c.(3175-3177)tCa>tTa	p.S1059L	SIN3A_ENST00000394949.4_Missense_Mutation_p.S1059L|SIN3A_ENST00000360439.4_Missense_Mutation_p.S1059L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1059					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATTCTCATCTGACATTAGCTG	0.483000													49	124					0	0	0.003610	0	0
CABIN1	23523	broad.mit.edu	37	22	24447308	24447308	+	Silent	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:24447308T>A	ENST00000398319.2	+	8	1063	c.678T>A	c.(676-678)gtT>gtA	p.V226V	CABIN1_ENST00000263119.5_Silent_p.V226V|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	226					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCACGATGTTTCGGTGAGTG	0.463000													31	32					0	0	0.005524	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965926	35965926	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:35965926C>T	ENST00000274278.3	-	4	762	c.405G>A	c.(403-405)aaG>aaA	p.K135K	UGT3A1_ENST00000507113.1_Silent_p.K101K|UGT3A1_ENST00000503189.1_Silent_p.K135K|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Silent_p.K81K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	135						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTCATTCTTTAAGGAAT	0.358000													19	32					0	0	0.000958	0	0
WWC2	80014	broad.mit.edu	37	4	184182240	184182240	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:184182240C>T	ENST00000403733.3	+	11	1663	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	WWC2_ENST00000378925.3_Silent_p.F390F|WWC2_ENST00000513834.1_Silent_p.F488F|WWC2_ENST00000448232.2_Silent_p.F488F|WWC2_ENST00000504005.1_Silent_p.F170F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	488										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AACTGGACTTCCTTCTGCAAG	0.498000													11	14					0	0	0.001855	0	0
EXTL3	2137	broad.mit.edu	37	8	28573590	28573590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:28573590C>T	ENST00000220562.4	+	3	916	c.14C>T	c.(13-15)aCc>aTc	p.T5I	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	5						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)		ACAGGCTATACCATGCTGCGG	0.592000													15	26					0	0	0.006122	0	0
VSX1	30813	broad.mit.edu	37	20	25056959	25056959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:25056959G>A	ENST00000376709.4	-	5	1299	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	346					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						GAGCCTCCTTGAGCACCAGCC	0.587000													21	27					0	0	0.001882	0	0
XAB2	56949	broad.mit.edu	37	19	7686102	7686102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7686102G>A	ENST00000358368.4	-	13	1736	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C	XAB2_ENST00000534844.1_Missense_Mutation_p.R564C	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	567					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCCCCATAGCGGGCAATGAAT	0.612000								Direct reversal of damage;Nucleotide excision repair (NER)					15	18					0	0	0.003163	0	0
TERT	7015	broad.mit.edu	37	5	1253879	1253879	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1253879C>T	ENST00000310581.5	-	16	3420	c.3363G>A	c.(3361-3363)ccG>ccA	p.P1121P	TERT_ENST00000334602.6_Silent_p.P1058P|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGGGCAGTGCCGGGTTGGCTG	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				13	7					0	0	0.004007	0	0
CAMK1G	57172	broad.mit.edu	37	1	209773327	209773327	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:209773327G>A	ENST00000009105.1	+	3	337		c.e3-1		CAMK1G_ENST00000361322.2_Splice_Site			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG							Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTTCTCCTCAGAGGAGCTTTC	0.468000													23	23					0	0	0.003330	0	0
FBXO40	51725	broad.mit.edu	37	3	121341642	121341642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121341642C>T	ENST00000338040.4	+	3	1780	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	456					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGGGGACTCCACGTGGAGCT	0.522000													5	29					0	0	0.001168	0	0
CNTN1	1272	broad.mit.edu	37	12	41421698	41421698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:41421698C>T	ENST00000551295.2	+	22	2867	c.2750C>T	c.(2749-2751)tCt>tTt	p.S917F	CNTN1_ENST00000348761.2_Missense_Mutation_p.S906F|CNTN1_ENST00000347616.1_Missense_Mutation_p.S917F|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	917	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCAGTAAGGTCTGGTTCACGC	0.393000													14	24					0	0	0.004007	0	0
DST	667	broad.mit.edu	37	6	56507426	56507426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56507426C>T	ENST00000446842.2	-	1	268	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DST_ENST00000370765.6_Missense_Mutation_p.G54E|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000518935.1_Missense_Mutation_p.G54E|DST_ENST00000244364.6_Missense_Mutation_p.G54E|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				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)			ATACCTGTGTCCATCAAAGGA	0.413000													14	21					0	0	0.002450	0	0
ERF	2077	broad.mit.edu	37	19	42752989	42752989	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:42752989G>A	ENST00000222329.4	-	4	1432	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.I350I	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	425					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)				GCTCCACCTTGATCTGTGGTG	0.662000													17	69					0	0	0.001216	0	0
TRIM46	80128	broad.mit.edu	37	1	155152210	155152210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:155152210C>T	ENST00000392451.2	+	9	1509	c.1426C>T	c.(1426-1428)Ccg>Tcg	p.P476S	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.T463I|TRIM46_ENST00000543729.1_Missense_Mutation_p.P483S|TRIM46_ENST00000368385.4_Missense_Mutation_p.T463I|TRIM46_ENST00000368382.1_Missense_Mutation_p.T440I|TRIM46_ENST00000545012.1_Missense_Mutation_p.T337I|TRIM46_ENST00000334634.4_Missense_Mutation_p.T463I			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	0	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCACTATACCGTTGAGTTC	0.662000													9	16					0	0	0.004482	0	0
TNXB	7148	broad.mit.edu	37	6	32012804	32012804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32012804G>A	ENST00000375244.3	-	32	11107	c.10906C>T	c.(10906-10908)Ctc>Ttc	p.L3636F	TNXB_ENST00000451343.1_Missense_Mutation_p.L65F|TNXB_ENST00000375247.2_Missense_Mutation_p.L3634F			P22105	TENX_HUMAN	tenascin XB	3681	Fibronectin type-III 28.				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						TCAGCTGAGAGGGGCCCCAGG	0.642000													24	67					0	0	0.005443	0	0
TP63	8626	broad.mit.edu	37	3	189608623	189608623	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:189608623G>A	ENST00000264731.3	+	13	1787	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	TP63_ENST00000354600.5_Silent_p.T472T|TP63_ENST00000382063.4_Silent_p.T481T|TP63_ENST00000392463.2_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000456148.1_Silent_p.T468T|TP63_ENST00000392461.3_Intron|TP63_ENST00000440651.2_Silent_p.T562T|TP63_ENST00000449992.1_Silent_p.T387T|TP63_ENST00000392460.3_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	566	SAM.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTATTTCACGACCCAGGGGC	0.433000										HNSCC(45;0.13)			21	23					0	0	0.003954	0	0
CAPN11	11131	broad.mit.edu	37	6	44145010	44145010	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:44145010C>T	ENST00000542245.1	+	12	1307	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	CAPN11_ENST00000398776.1_Silent_p.I423I			Q9UMQ6	CAN11_HUMAN	calpain 11	423	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTTTAAGATCTCTCTTCCTG	0.607000													9	6					0	0	0.004482	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923981	43923981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43923981G>A	ENST00000329196.5	+	1	1726	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	570						integral to membrane	aspartic-type endopeptidase activity										CGAGGAGCAGGGGACTTAGAC	0.592000													24	18					0	0	0.002780	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179031	58179031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58179031C>T	ENST00000483681.1	-	9	1421	c.840G>A	c.(838-840)tgG>tgA	p.W280*	DNASE1L3_ENST00000394549.2_Intron|DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000486455.1_Intron			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	0					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACTCATCTTTCCAGGACAATG	0.428000													4	23					0	0	0.000248	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967498	106967498	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106967498C>T	ENST00000390622.2	-	0	290																											GAAGAACTTTCCTCTCAGAGG	0.488000													12	35					0	0	0.001368	0	0
HSF1	3297	broad.mit.edu	37	8	145535756	145535756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145535756C>T	ENST00000528838.1	+	9	1128	c.968C>T	c.(967-969)aCc>aTc	p.T323I	HSF1_ENST00000400780.4_Missense_Mutation_p.T258I	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	323						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TCCGTGGACACCCTCTTGTCC	0.706000													4	9					0	0	0.000248	0	0
CDH19	28513	broad.mit.edu	37	18	64235818	64235818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:64235818C>T	ENST00000262150.2	-	3	617	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CDH19_ENST00000540086.1_Missense_Mutation_p.E109K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGGGATCGCTCCTCTCTATCA	0.433000													22	47					0	0	0.002780	0	0
PDE1C	5137	broad.mit.edu	37	7	31890269	31890269	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:31890269G>A	ENST00000396184.3	-	9	1041	c.837C>T	c.(835-837)ttC>ttT	p.F279F	PDE1C_ENST00000321453.7_Silent_p.F279F|PDE1C_ENST00000396191.1_Silent_p.F279F|PDE1C_ENST00000396182.2_Silent_p.F279F|PDE1C_ENST00000396193.1_Silent_p.F339F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	279	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTGAATGTGGAAATTGTTGG	0.448000													42	47					0	0	0.003610	0	0
RANBP10	57610	broad.mit.edu	37	16	67763906	67763906	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:67763906G>A	ENST00000317506.3	-	8	1048	c.933C>T	c.(931-933)atC>atT	p.I311I	RANBP10_ENST00000448631.2_Silent_p.I255I|RANBP10_ENST00000411657.2_Silent_p.I194I|RANBP10_ENST00000536251.1_Silent_p.I82I|RANBP10_ENST00000602677.1_Silent_p.I311I	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	311	CTLH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTGGTCTCGATGGCCTCGC	0.632000													14	19					0	0	0.003163	0	0
BRSK2	9024	broad.mit.edu	37	11	1459553	1459553	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1459553G>A	ENST00000308219.9	+	3	590	c.204G>A	c.(202-204)gcG>gcA	p.A68A	BRSK2_ENST00000531197.1_Silent_p.A68A|BRSK2_ENST00000528710.1_Silent_p.A8A|BRSK2_ENST00000528841.1_Silent_p.A68A|BRSK2_ENST00000526678.1_Silent_p.A68A|BRSK2_ENST00000382179.1_Silent_p.A114A|BRSK2_ENST00000308230.5_Silent_p.A68A	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	68	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGAGATCGCGATCCTGAAGC	0.557000													22	29					0	0	0.002780	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891535	18891535	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18891535G>A	ENST00000317658.3	+	1	491	c.333G>A	c.(331-333)caG>caA	p.Q111Q		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	111					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTATCATTCAGAATGAGGCAG	0.393000													30	35					0	0	0.001271	0	0
OR4K13	390433	broad.mit.edu	37	14	20502702	20502702	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20502702G>A	ENST00000315693.2	-	1	217	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAGCCAGGATCATATCAA	0.443000													17	45					0	0	0.006122	0	0
PLCE1	51196	broad.mit.edu	37	10	95791693	95791693	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:95791693T>A	ENST00000260766.3	+	2	1524	c.890T>A	c.(889-891)tTg>tAg	p.L297*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.L297*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	297					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGACCTTTTTGAGCCATTTT	0.398000													51	58					0	0	0.003610	0	0
TTC3	7267	broad.mit.edu	37	21	38538328	38538328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38538328C>T	ENST00000399017.2	+	33	6559	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.P1271L|TTC3_ENST00000354749.2_Missense_Mutation_p.P1271L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1271					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATGGGCAACCCAAAGGGGTC	0.463000													57	37					0	0	0.003610	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293631	71293631	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:71293631A>T	ENST00000398530.1	-	1	290	c.253T>A	c.(253-255)Tcc>Acc	p.S85T	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	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						CAGCAGTTGGACTGGGAGCAG	0.622000													36	59					0	0	0.002836	0	0
POLD2	5425	broad.mit.edu	37	7	44157611	44157611	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44157611G>C	ENST00000406581.2	-	4	922	c.273C>G	c.(271-273)tgC>tgG	p.C91W	POLD2_ENST00000223361.3_Missense_Mutation_p.C91W|POLD2_ENST00000452185.1_Missense_Mutation_p.C91W	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	91					base-excision repair|DNA strand elongation involved in DNA replication|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|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CCACCACACAGCACTTCTCCT	0.637000													14	27					0	0	0.002450	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618201	77618201	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77618201G>T	ENST00000521891.2	+	2	2326	c.1878G>T	c.(1876-1878)agG>agT	p.R626S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R626S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R626S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R626S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	626						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGTCTTCGAGGTCTCTTGGTG	0.532000										HNSCC(33;0.089)			14	20					7.93312e-07	1.36735e-06	0.002450	1	0
KLHL36	79786	broad.mit.edu	37	16	84690691	84690691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84690691C>T	ENST00000564996.1	+	3	419	c.278C>T	c.(277-279)tCc>tTc	p.S93F	KLHL36_ENST00000258157.5_Missense_Mutation_p.S93F	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	93	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGGCGCCTCCTACATTGGG	0.607000													11	22					0	0	0.001368	0	0
ARL3	403	broad.mit.edu	37	10	104459154	104459154	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:104459154A>T	ENST00000260746.5	-	3	371	c.240T>A	c.(238-240)aaT>aaA	p.N80K		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	80					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TTTCAAAATAATTCTTCCAGT	0.353000													9	16					0	0	0.000443	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110923	33110923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:33110923G>A	ENST00000267068.3	-	2	406	c.242C>T	c.(241-243)cCt>cTt	p.P81L	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.P81L|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	81										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)		ATCATGCAAAGGTCTATGCAA	0.408000													62	64					0	0	0.003610	0	0
PARD6B	84612	broad.mit.edu	37	20	49354422	49354422	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:49354422T>A	ENST00000371610.2	+	2	338	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	PARD6B_ENST00000396039.1_Missense_Mutation_p.L32Q	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	32	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CGGTTTTCGCTGGAAAGATCA	0.343000													28	31					0	0	0.001271	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573051	44573051	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44573051G>A	ENST00000289547.4	-	8	2443	c.2388C>T	c.(2386-2388)tcC>tcT	p.S796S	NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000381160.3_Silent_p.S796S|NPC1L1_ENST00000546276.1_Silent_p.S796S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	796	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGCTGTCCAGGGAGAGCAGGG	0.627000													10	22					0	0	0.000673	0	0
MMP26	56547	broad.mit.edu	37	11	5010922	5010922	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5010922C>T	ENST00000380390.1	+	3	360	c.144C>T	c.(142-144)ctC>ctT	p.L48L	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Silent_p.L48L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	48					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCGCCACTCCTTACCCAGG	0.473000													9	8					0	0	0.001368	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925581	54925581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54925581G>A	ENST00000293373.6	+	25	2832	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R868K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	918					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCAGTTTCAGGGCCATGGCC	0.483000													12	24					0	0	0.002450	0	0
MAP1A	4130	broad.mit.edu	37	15	43816167	43816167	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:43816167C>T	ENST00000382031.1	+	5	3241	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	MAP1A_ENST00000399453.1_Silent_p.I832I|MAP1A_ENST00000300231.5_Silent_p.I832I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	832						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)	CCACTTCAATCACTGAGTGTG	0.522000													15	23					0	0	0.003163	0	0
RP1L1	94137	broad.mit.edu	37	8	10469369	10469369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:10469369C>T	ENST00000382483.3	-	4	2462	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	747					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)		GAAACAAAATCCGAGTGGACT	0.652000													17	19					0	0	0.006122	0	0
KCND3	3752	broad.mit.edu	37	1	112524433	112524433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:112524433C>T	ENST00000369697.1	-	1	985	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	KCND3_ENST00000302127.4_Missense_Mutation_p.G306S|KCND3_ENST00000315987.2_Missense_Mutation_p.G306S			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	306						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATCCGCAGGCCCTGGGAGTGG	0.582000													4	20					0	0	0.003080	0	0
AK7	122481	broad.mit.edu	37	14	96864488	96864488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:96864488C>T	ENST00000267584.4	+	2	226	c.182C>T	c.(181-183)tCa>tTa	p.S61L	AK7_ENST00000555570.1_Missense_Mutation_p.S61L	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	61					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAAAATAAGTCAGCTATGCTG	0.483000													33	39					0	0	0.002445	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013857	117013857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:117013857G>A	ENST00000306985.4	+	2	264	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.R37Q	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	37					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		p.R37Q(1)		breast(1)|large_intestine(2)|lung(3)	6						ATAATAGAACGATACAAGGGT	0.458000													30	64					0	0	0.002096	0	0
CYP3A43	64816	broad.mit.edu	37	7	99436751	99436751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:99436751G>A	ENST00000354829.2	+	3	277	c.174G>A	c.(172-174)tgG>tgA	p.W58*	CYP3A43_ENST00000421837.2_Nonsense_Mutation_p.W58*|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Nonsense_Mutation_p.W58*|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Missense_Mutation_p.G99E|CYP3A43_ENST00000222382.5_Nonsense_Mutation_p.W58*	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	58			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGGGTCTTTGGAATTTTGACA	0.358000													29	34					0	0	0.002096	0	0
GPT2	84706	broad.mit.edu	37	16	46952658	46952658	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46952658C>T	ENST00000440783.2	+	8	1391	c.726C>T	c.(724-726)ggC>ggT	p.G242G	GPT2_ENST00000340124.4_Silent_p.G342G	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	342					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCTCCAAGGGCTACATGGGCG	0.637000													7	38					0	0	0.001984	0	0
HORMAD2	150280	broad.mit.edu	37	22	30494852	30494852	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:30494852C>T	ENST00000336726.6	+	3	418	c.63C>T	c.(61-63)ttC>ttT	p.F21F	HORMAD2_ENST00000403975.1_Silent_p.F21F	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	21					meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			AAACAGTTTTCCCATCCCAAA	0.338000													47	64					0	0	0.003610	0	0
PCK1	5105	broad.mit.edu	37	20	56138162	56138162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:56138162C>T	ENST00000319441.4	+	5	853	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.S98F	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	230					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAGATCATCTCCTTTGGCAGT	0.622000													14	24					0	0	0.002096	0	0
ELP3	55140	broad.mit.edu	37	8	27995239	27995239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27995239C>T	ENST00000256398.8	+	10	1308	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ELP3_ENST00000537665.1_Missense_Mutation_p.R192C|ELP3_ENST00000542181.1_Missense_Mutation_p.R182C|ELP3_ENST00000524103.1_Missense_Mutation_p.R239C|ELP3_ENST00000380353.4_Missense_Mutation_p.R219C|ELP3_ENST00000521015.1_Missense_Mutation_p.R297C	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	311					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCCTGCTTTTCGTCCCGATGG	0.453000													28	33					0	0	0.002096	0	0
TENM3	55714	broad.mit.edu	37	4	183601411	183601411	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:183601411G>A	ENST00000511685.1	+	9	1671	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	TENM3_ENST00000406950.2_Silent_p.V516V					teneurin transmembrane protein 3																		AGTCTGTGGTGGAATGTCCCC	0.423000													7	23					0	0	0.003080	0	0
TUBB6	84617	broad.mit.edu	37	18	12325642	12325642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:12325642C>T	ENST00000317702.5	+	4	1088	c.854C>T	c.(853-855)aCc>aTc	p.T285I	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	285					'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)		CGGGCCCTGACCGTGCCCGAG	0.682000													25	6					0	0	0.003954	0	0
SLC6A7	6534	broad.mit.edu	37	5	149581965	149581965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:149581965G>A	ENST00000230671.2	+	7	1285	c.914G>A	c.(913-915)gGg>gAg	p.G305E	SLC6A7_ENST00000524041.1_Missense_Mutation_p.G305E	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	305						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGCTTCGGGGGGCTCCTCACC	0.572000													23	53					0	0	0.004656	0	0
VPS4B	9525	broad.mit.edu	37	18	61064420	61064420	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61064420G>A	ENST00000238497.5	-	9	1142	c.939C>T	c.(937-939)caC>caT	p.H313H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	313					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TGGTCCCTAGGTGCAGTTTAA	0.413000													16	28					0	0	0.006122	0	0
MMP27	64066	broad.mit.edu	37	11	102567566	102567566	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:102567566C>T	ENST00000260229.4	-	5	711	c.619_splice	c.e5-1	p.G207_splice		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	207					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CAAGTTGAATCCTTGATAATA	0.403000													7	18					0	0	0.001984	0	0
OR51V1	283111	broad.mit.edu	37	11	5221055	5221055	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5221055G>A	ENST00000321255.1	-	1	875	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAAGGTGGGAAAAGGATGT	0.433000													23	17					0	0	0.002780	0	0
PSG5	5673	broad.mit.edu	37	19	43680079	43680079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43680079C>T	ENST00000404580.1	-	3	740	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.E218K|PSG5_ENST00000342951.6_Missense_Mutation_p.E218K|PSG5_ENST00000599812.1_Missense_Mutation_p.E311K|PSG5_ENST00000366175.3_Missense_Mutation_p.E218K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCCGTATTTCACATTCATAG	0.517000													32	98					0	0	0.002222	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457815	45457815	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:45457815C>T	ENST00000548424.1	+	0	448																											TCTGCTGCTTCCATAAAGGCT	0.443000													17	42					0	0	0.004990	0	0
GPR84	53831	broad.mit.edu	37	12	54757412	54757412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54757412G>A	ENST00000551809.1	-	1	859	c.224C>T	c.(223-225)cCc>cTc	p.P75L	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P75L|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	75						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CACAGAGAAGGGCTGAAGGAG	0.577000													4	11					0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19433105	19433105	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:19433105G>A	ENST00000375267.2	-	83	12354	c.12351C>T	c.(12349-12351)tcC>tcT	p.S4117S	UBR4_ENST00000375254.3_Silent_p.S4117S|UBR4_ENST00000375217.2_Silent_p.S4110S|UBR4_ENST00000375226.2_Silent_p.S4093S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4117					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)		GATCCAAGGGGGAGGTCCTCT	0.567000													22	51					0	0	0.002780	0	0
DFNB31	25861	broad.mit.edu	37	9	117168646	117168646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:117168646G>A	ENST00000362057.3	-	9	2393	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	DFNB31_ENST00000374059.3_Missense_Mutation_p.P391L|DFNB31_ENST00000265134.6_Missense_Mutation_p.P359L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	742					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCGTCTGGGGCAGCGCCCT	0.617000													21	45					0	0	0.002780	0	0
SAP130	79595	broad.mit.edu	37	2	128757395	128757395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:128757395G>A	ENST00000357702.5	-	10	1342	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	SAP130_ENST00000259234.6_Missense_Mutation_p.P378L|SAP130_ENST00000259235.3_Missense_Mutation_p.P404L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	404					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGTACTTGTGGGAGCTTGCGT	0.473000													46	22					0	0	0.003610	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435503	5435503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:5435503C>T	ENST00000380419.3	-	4	1355	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	TUBAL3_ENST00000479328.1_Missense_Mutation_p.E400K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	440					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCCACTTCCTCATAGTCCCTC	0.488000													13	41					0	0	0.002450	0	0
TMPO	7112	broad.mit.edu	37	12	98928048	98928048	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:98928048T>G	ENST00000266732.4	+	4	2251	c.2013T>G	c.(2011-2013)acT>acG	p.T671T	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGCTTCCACTCCCTTTAAAG	0.388000													58	129					0	0	0.003610	0	0
NACA2	342538	broad.mit.edu	37	17	59667908	59667908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:59667908C>T	ENST00000521764.1	-	1	655	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	212	UBA.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					ACTGTTAATTCCATAATCGCA	0.363000													38	184					0	0	0.002222	0	0
NF1	4763	broad.mit.edu	37	17	29683977	29683977	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:29683977G>A	ENST00000358273.4	+	53	8121		c.e53-1		NF1_ENST00000444181.2_Splice_Site|NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTGCTGCAGAAACTCAGAG	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			55	79					0	0	0.003610	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304957	20304957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:20304957C>T	ENST00000375111.3	-	4	372	c.101G>A	c.(100-102)gGa>gAa	p.G34E	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.G34E	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	34					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTTTCCTGTCGTCAA	0.552000													10	22					0	0	0.001368	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315294	154315294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:154315294C>T	ENST00000368489.3	+	15	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	456					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTGACTTCTCCTTCAATCCT	0.557000													15	61					0	0	0.004990	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197375	26197375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26197375C>T	ENST00000377831.5	-	2	557	c.104G>A	c.(103-105)gGc>gAc	p.G35D	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.G35D	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	35					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CTTCTTCACGCCGCCGGTGGC	0.652000													17	46					0	0	0.004990	0	0
MGA	23269	broad.mit.edu	37	15	42000029	42000029	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42000029C>T	ENST00000219905.7	+	6	2473	c.2292C>T	c.(2290-2292)aaC>aaT	p.N764N	MGA_ENST00000566586.1_Silent_p.N764N|MGA_ENST00000570161.1_Silent_p.N764N|MGA_ENST00000545763.1_Silent_p.N764N|MGA_ENST00000389936.4_Silent_p.N764N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	764						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)		CTTTTTGGAACCTTACAGGAA	0.368000													9	52					0	0	0.000978	0	0
THSD7B	80731	broad.mit.edu	37	2	137872762	137872762	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:137872762A>G	ENST00000409968.1	+	5	1446	c.1268A>G	c.(1267-1269)cAc>cGc	p.H423R	THSD7B_ENST00000272643.3_Missense_Mutation_p.H423R|THSD7B_ENST00000413152.2_Missense_Mutation_p.H392R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGATCCCCACTGGCATGTG	0.547000													4	23					0	0	0.000602	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708045	126708045	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:126708045C>T	ENST00000251772.4	+	1	609	c.540C>T	c.(538-540)agC>agT	p.S180S	PLXNA1_ENST00000393409.2_Silent_p.S203S			Q9UIW2	PLXA1_HUMAN	plexin A1	203	Sema.				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)		CACTGTCCAGCCGTCGGCTCA	0.617000													7	38					0	0	0.004482	0	0
PPAP2C	8612	broad.mit.edu	37	19	291326	291326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:291326C>T	ENST00000269812.3	-	1	60	c.11G>A	c.(10-12)aGg>aAg	p.R4K	PPAP2C_ENST00000434325.2_5'UTR	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	4					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		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)		GAAGACCCACCTCCGCTGCAT	0.761000													12	24					0	0	0.004007	0	0
PARP10	84875	broad.mit.edu	37	8	145058972	145058972	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145058972G>A	ENST00000313028.7	-	5	1292	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	PARP10_ENST00000525773.1_Silent_p.L412L|PARP10_ENST00000524918.1_Silent_p.L400L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	400						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTTCCACCAGGCCCTCCTGC	0.652000													38	33					0	0	0.004878	0	0
NDUFA13	51079	broad.mit.edu	37	19	19627014	19627014	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:19627014C>T	ENST00000252576.5	+	1	216	c.216C>T	c.(214-216)ttC>ttT	p.F72F	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13									p.F72F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAAGTCACTTCCGCCCGGGAC	0.607000													5	12					0	0	0.000602	0	0
PEG3	5178	broad.mit.edu	37	19	57325321	57325321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:57325321C>T	ENST00000326441.9	-	10	4852	c.4489G>A	c.(4489-4491)Gag>Aag	p.E1497K	PEG3_ENST00000598410.1_Missense_Mutation_p.E1373K|PEG3_ENST00000593695.1_Missense_Mutation_p.E1371K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1497K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1497	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACCTGAATCTCTTGATCTTCA	0.488000													25	56					0	0	0.003954	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369005	60369005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:60369005G>A	ENST00000296597.5	+	2	308	c.181G>A	c.(181-183)Gac>Aac	p.D61N	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	61						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AAAAGAAGTAGACTATGAAGC	0.313000													41	96					0	0	0.003610	0	0
CUL1	8454	broad.mit.edu	37	7	148486871	148486871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:148486871G>A	ENST00000325222.4	+	15	1906	c.1627G>A	c.(1627-1629)Ggg>Agg	p.G543R	CUL1_ENST00000409469.1_Missense_Mutation_p.G543R|CUL1_ENST00000602748.1_Missense_Mutation_p.G543R	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	543					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCTGAGCTCCGGGTCCTGGCC	0.483000													79	90					0	0	0.003610	0	0
NPY2R	4887	broad.mit.edu	37	4	156135355	156135355	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:156135355C>T	ENST00000329476.3	+	2	753	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NPY2R_ENST00000506608.1_Silent_p.F88F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	88					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAACTTTTTCATTGCCAATC	0.473000													15	35					0	0	0.002450	0	0
ADH1B	125	broad.mit.edu	37	4	100239230	100239230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:100239230C>T	ENST00000305046.8	-	3	299	c.232G>A	c.(232-234)Gga>Aga	p.G78R	ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_Missense_Mutation_p.G38R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	78					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCCCTTCTCCAACACTCTCC	0.532000													71	88					0	0	0.003610	0	0
A4GALT	53947	broad.mit.edu	37	22	43089082	43089082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:43089082C>T	ENST00000401850.1	-	2	1365	c.876G>A	c.(874-876)tgG>tgA	p.W292*	A4GALT_ENST00000249005.2_Nonsense_Mutation_p.W292*|A4GALT_ENST00000381278.3_Nonsense_Mutation_p.W292*			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	292					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTACTTCTTCCAGTCCTGCC	0.647000													5	11					0	0	0.000602	0	0
FPR3	2359	broad.mit.edu	37	19	52327436	52327436	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52327436G>A	ENST00000339223.4	+	2	614	c.435G>A	c.(433-435)gtG>gtA	p.V145V	FPR3_ENST00000595991.1_Silent_p.V145V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	145					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCAAGAGGGTGATGACGGGAC	0.478000													31	11					0	0	0.001271	0	0
CPPED1	55313	broad.mit.edu	37	16	12798701	12798701	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:12798701G>A	ENST00000381774.4	-	3	735	c.495C>T	c.(493-495)tcC>tcT	p.S165S	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	165							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTAGAACTGGGAGTTGAGGA	0.637000													21	14					0	0	0.001216	0	0
AZU1	566	broad.mit.edu	37	19	830846	830846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:830846C>T	ENST00000233997.2	+	4	520	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	167	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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;0.000172)|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)		CTCCCGTTTTCCCAGGTTTGT	0.662000													19	10					0	0	0.001523	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799087	25799087	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25799087G>A	ENST00000244527.4	-	12	1445	c.1330C>T	c.(1330-1332)Cta>Tta	p.L444L	SLC17A1_ENST00000476801.1_Silent_p.L444L|SLC17A1_ENST00000427328.1_Silent_p.L390L|SLC17A1_ENST00000468082.1_Silent_p.L390L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	444					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAGAAAATTAGGCCAGTCACA	0.393000													48	34					0	0	0.003610	0	0
KIAA1244	57221	broad.mit.edu	37	6	138634995	138634995	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:138634995T>C	ENST00000251691.4	+	26	4430	c.4264T>C	c.(4264-4266)Ttg>Ctg	p.L1422L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1422					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)		ACTTGCCGGCTTGCCTCGAAG	0.403000													6	33					0	0	0.001984	0	0
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:21344752C>A	ENST00000215739.8	+	8	1088	c.729C>A	c.(727-729)ttC>ttA	p.F243L	LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	243					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTTTGTATTCTCTGGGCAAA	0.567000													27	32					5.45727e-16	9.46786e-16	0.001512	1	0
SPEG	10290	broad.mit.edu	37	2	220354500	220354500	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:220354500C>T	ENST00000312358.7	+	36	8892	c.8760C>T	c.(8758-8760)ccC>ccT	p.P2920P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2920	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTGAGCCCCCTCCTGAGC	0.627000													10	17					0	0	0.000443	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635378	64635378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:64635378G>A	ENST00000498707.1	-	10	1882	c.1540C>T	c.(1540-1542)Ctt>Ttt	p.L514F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L486F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	514	Disintegrin.				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)		ACGTTGTAAAGGATGCCTGGC	0.473000													183	281					0	0	0.003610	0	0
TENM2	57451	broad.mit.edu	37	5	167687292	167687292	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:167687292G>A	ENST00000519204.1	+	27	7192	c.7074G>A	c.(7072-7074)gtG>gtA	p.V2358V	TENM2_ENST00000520394.1_Silent_p.V2240V|TENM2_ENST00000545108.1_Silent_p.V2478V|TENM2_ENST00000518659.1_Silent_p.V2479V|TENM2_ENST00000403607.2_Silent_p.V2303V					teneurin transmembrane protein 2																		CCATAGATGTGAAAAGCTGGC	0.418000													38	20					0	0	0.001706	0	0
PLCB4	5332	broad.mit.edu	37	20	9365010	9365010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:9365010G>A	ENST00000378501.2	+	11	1031	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	PLCB4_ENST00000334005.3_Missense_Mutation_p.G339E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G339E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G339E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G339E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G339E|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	339	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGTTCGGCGGGAAGTCTTCG	0.453000													17	48					0	0	0.001216	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083391	44083391	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:44083391A>G	ENST00000262726.7	-	11	1355	c.1102T>C	c.(1102-1104)Ttg>Ctg	p.L368L	EFCAB6_ENST00000396231.2_Silent_p.L216L|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTAACTTGCAACCCCTGAGGC	0.289000													26	32					0	0	0.001061	0	0
ASXL3	80816	broad.mit.edu	37	18	31318725	31318725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:31318725G>A	ENST00000269197.5	+	11	1357	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTCAGGAGGAAATTGCAGA	0.393000													19	43					0	0	0.003954	0	0
COL12A1	1303	broad.mit.edu	37	6	75890910	75890910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:75890910C>T	ENST00000322507.8	-	11	2218	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.D637N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D637N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	637	Fibronectin type-III 3.				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						AAACTAAGATCCTTTGGAGGG	0.318000													11	49					0	0	0.000978	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471587	61471587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:61471587G>A	ENST00000398019.2	+	8	1186	c.861G>A	c.(859-861)atG>atA	p.M287I	SERPINB7_ENST00000546027.1_Missense_Mutation_p.M287I|SERPINB7_ENST00000540675.1_Missense_Mutation_p.M270I|SERPINB7_ENST00000336429.2_Missense_Mutation_p.M287I	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	287					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATTATGAAATGAAACAATATT	0.398000													7	22					0	0	0.003080	0	0
MICU1	10367	broad.mit.edu	37	10	74267951	74267951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:74267951G>A	ENST00000398761.4	-	7	752	c.620C>T	c.(619-621)tCc>tTc	p.S207F	MICU1_ENST00000398763.4_5'UTR|MICU1_ENST00000361114.5_Missense_Mutation_p.S205F|MICU1_ENST00000401998.3_Missense_Mutation_p.S205F|MICU1_ENST00000418483.2_Intron			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	205					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GTCTGAAAAGGATATGAGCCC	0.363000													4	7					0	0	0.000248	0	0
GPR98	84059	broad.mit.edu	37	5	89943465	89943465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:89943465G>A	ENST00000405460.2	+	17	3269	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1058	Calx-beta 8.				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)		GTTGAAAAAGGAGAAACGCTC	0.413000													59	29					0	0	0.003610	0	0
TPCN2	219931	broad.mit.edu	37	11	68839459	68839459	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:68839459C>T	ENST00000294309.3	+	11	1130	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.S343S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	343					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCTATCCTCCATGGTGGGGG	0.632000													20	21					0	0	0.001882	0	0
FBN2	2201	broad.mit.edu	37	5	127674737	127674737	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:127674737C>T	ENST00000508053.1	-	32	4334	c.3360G>A	c.(3358-3360)agG>agA	p.R1120R	FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.R1120R|FBN2_ENST00000508989.1_Silent_p.R1087R			P35556	FBN2_HUMAN	fibrillin 2	1120	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGGAGAAATCCTGCACTCGT	0.453000													22	13					0	0	0.003954	0	0
SECTM1	6398	broad.mit.edu	37	17	80280141	80280141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80280141C>T	ENST00000269389.3	-	5	993	c.643G>A	c.(643-645)Gag>Aag	p.E215K	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	215					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGGGTGGGCTCGGAGTCTGGG	0.637000													22	33					0	0	0.001882	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552692	18552692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:18552692G>A	ENST00000433979.1	+	15	2219	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.W742*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.W701*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	701					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.W701C(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCCCTGGATGGGATGAAAGGA	0.408000													19	32					0	0	0.006122	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258620	9258620	+	Silent	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:9258620G>T	ENST00000383440.2	+	8	5543	c.5286G>T	c.(5284-5286)cgG>cgT	p.R1762R	ANKRD12_ENST00000262126.3_Silent_p.R1785R|ANKRD12_ENST00000400020.3_Silent_p.R1762R	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1785						nucleus				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						ACCATCCACGGAAAAGGAAAG	0.418000													37	13					1.30998e-17	2.27469e-17	0.005524	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37494479	37494479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:37494479C>T	ENST00000381792.2	-	3	453	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E105K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E105K|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E114K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E114K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	114					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTGGCGGTTTCACTGCGGAAG	0.567000													114	119					0	0	0.003610	0	0
INPP5J	27124	broad.mit.edu	37	22	31529413	31529413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:31529413G>A	ENST00000331075.5	+	11	2402	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	INPP5J_ENST00000401755.1_Missense_Mutation_p.D150N|INPP5J_ENST00000412277.2_Missense_Mutation_p.D718N|INPP5J_ENST00000405300.1_Missense_Mutation_p.D418N|INPP5J_ENST00000402238.1_Intron|INPP5J_ENST00000404453.1_Missense_Mutation_p.D150N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D418N|INPP5J_ENST00000404390.3_Missense_Mutation_p.D417N			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	785	Required for ruffle localization (By similarity).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCATTGCAAGGACTATGTGGC	0.502000													11	12					0	0	0.002450	0	0
ABHD15	116236	broad.mit.edu	37	17	27893587	27893587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27893587C>T	ENST00000307201.4	-	1	568	c.398G>A	c.(397-399)gGg>gAg	p.G133E	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	133						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGCCACTAGCCCATCGTCCGC	0.687000													8	7					0	0	0.003080	0	0
GALNT8	26290	broad.mit.edu	37	12	4853837	4853837	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:4853837G>A	ENST00000252318.2	+	4	1168	c.831G>A	c.(829-831)ttG>ttA	p.L277L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	277	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCGCCATCTTGGATGCTCACA	0.493000													10	20					0	0	0.000978	0	0
SEC24B	10427	broad.mit.edu	37	4	110431225	110431225	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:110431225G>A	ENST00000265175.5	+	8	1789	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K	SEC24B_ENST00000504968.2_Silent_p.K608K|SEC24B_ENST00000399100.2_Silent_p.K543K	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	578					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATAAAGCTAAGCTTCCTTTAG	0.343000													18	31					0	0	0.000958	0	0
ZNF592	9640	broad.mit.edu	37	15	85341836	85341836	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:85341836C>T	ENST00000299927.3	+	5	2776	c.2754C>T	c.(2752-2754)ccC>ccT	p.P918P	ZNF592_ENST00000560079.2_Silent_p.P918P			Q92610	ZN592_HUMAN	zinc finger protein 592	918					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)			ACGGTGTTCCCCGAAATGTGG	0.612000													5	33					0	0	0.001984	0	0
PLA1A	51365	broad.mit.edu	37	3	119343987	119343987	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119343987G>A	ENST00000273371.4	+	9	1101	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	PLA1A_ENST00000495992.1_Silent_p.V327V|PLA1A_ENST00000488919.1_Silent_p.V170V|PLA1A_ENST00000494440.1_Silent_p.V327V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	343					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCCTCGTGGAGTTTCACT	0.488000													13	21					0	0	0.001855	0	0
PTH1R	5745	broad.mit.edu	37	3	46943282	46943282	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:46943282C>T	ENST00000313049.5	+	11	1346	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PTH1R_ENST00000418619.1_Silent_p.I381I|PTH1R_ENST00000430002.2_Silent_p.I381I|PTH1R_ENST00000449590.1_Silent_p.I381I			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	381						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCATCAATATCGTCCGGGTGC	0.662000													16	24					0	0	0.001216	0	0
OR4C16	219428	broad.mit.edu	37	11	55339658	55339658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:55339658C>T	ENST00000314634.3	+	1	55	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GACACAGGATCCTTTTTGGAA	0.403000													20	57					0	0	0.001882	0	0
NLRC5	84166	broad.mit.edu	37	16	57060583	57060583	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:57060583C>T	ENST00000436936.1	+	6	1953	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	NLRC5_ENST00000308149.7_Silent_p.F576F|NLRC5_ENST00000539144.1_Silent_p.F576F|NLRC5_ENST00000262510.6_Silent_p.F576F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	576					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)				GCCGCCCCTTCCTTAGCCACC	0.637000													25	27					0	0	0.005443	0	0
FAM169A	26049	broad.mit.edu	37	5	74078872	74078872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:74078872C>T	ENST00000389156.4	-	12	1438	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.E390K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	450	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCTAAAACTTCACTAGTGGAG	0.393000													12	47					0	0	0.000978	0	0
MYLK3	91807	broad.mit.edu	37	16	46746678	46746678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46746678G>A	ENST00000394809.4	-	10	2111	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	MYLK3_ENST00000536476.1_Nonsense_Mutation_p.R325*	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	666	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCTTCTCTCGAGGCTTGTAC	0.552000													7	26					0	0	0.003080	0	0
MADCAM1	8174	broad.mit.edu	37	19	504926	504926	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:504926G>A	ENST00000587541.1	+	3	1307	c.453G>A	c.(451-453)ggG>ggA	p.G151G	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.G283G|MADCAM1_ENST00000382683.4_Silent_p.G188G|MADCAM1_ENST00000215637.3_Silent_p.G370G			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	370	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		CCTGGGCTGGGTTAAGGGGGA	0.622000													8	10					0	0	0.003080	0	0
OR5P3	120066	broad.mit.edu	37	11	7846984	7846984	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:7846984C>G	ENST00000328375.1	-	1	535	c.536G>C	c.(535-537)tGt>tCt	p.C179S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAATAGTCACAGAAAAAGTG	0.413000													25	17					0	0	0.001061	0	0
MUC6	4588	broad.mit.edu	37	11	1020106	1020106	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1020106G>A	ENST00000421673.2	-	29	3842	c.3792C>T	c.(3790-3792)ccC>ccT	p.P1264P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1264	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGGCTGTGGGCTTGGAGG	0.652000													5	6					0	0	0.003080	0	0
XRN1	54464	broad.mit.edu	37	3	142102197	142102197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:142102197G>A	ENST00000264951.4	-	22	2678	c.2561C>T	c.(2560-2562)cCt>cTt	p.P854L	XRN1_ENST00000392981.2_Missense_Mutation_p.P854L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	854					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTTCTCAGAGGAAACAAATC	0.338000													15	26					0	0	0.001216	0	0
CSMD2	114784	broad.mit.edu	37	1	34238196	34238196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:34238196C>T	ENST00000373381.4	-	13	1996	c.1820G>A	c.(1819-1821)tGg>tAg	p.W607*	CSMD2_ENST00000338325.1_Nonsense_Mutation_p.W215*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	567	CUB 4.					integral to membrane|plasma membrane	protein binding	p.W567*(1)		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)				CTTAGCCGACCATTGGTTATT	0.577000													20	42					0	0	0.002780	0	0
DIDO1	11083	broad.mit.edu	37	20	61511438	61511438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:61511438G>A	ENST00000266070.4	-	16	6195	c.5870C>T	c.(5869-5871)cCa>cTa	p.P1957L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1957	Pro-rich.				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)					CCTGGGACCTGGCATAAAGTT	0.582000													64	85					0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451346	138451346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:138451346G>A	ENST00000344876.4	-	1	2283	c.1897C>T	c.(1897-1899)Cca>Tca	p.P633S	PCDH18_ENST00000507846.1_Missense_Mutation_p.P413S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P633S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	633	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATGATCGTGGATCAATTATG	0.443000													71	92					0	0	0.003610	0	0
PRR11	55771	broad.mit.edu	37	17	57274954	57274954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:57274954G>A	ENST00000262293.4	+	8	1219	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.D10N	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	303										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAGAAAAGTCGATGTAGAGAG	0.378000													16	51					0	0	0.001216	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86643123	86643123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:86643123C>T	ENST00000395184.1	+	3	732	c.266C>T	c.(265-267)cCa>cTa	p.P89L	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.P89L|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	89	PH.				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)		GAAGTAGTTCCAGGTAAGATA	0.373000													19	17					0	0	0.001523	0	0
OR1N2	138882	broad.mit.edu	37	9	125316021	125316021	+	Silent	SNP	C	C	T	rs143315983		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125316021C>T	ENST00000373688.2	+	1	631	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I191I(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGAAAGCCATCCCTCATTTCT	0.527000													38	44					0	0	0.003610	0	0
H3F3B	3021	broad.mit.edu	37	17	73775010	73775010	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73775010A>T	ENST00000254810.4	-	3	295	c.163T>A	c.(163-165)Tat>Aat	p.Y55N	H3F3B_ENST00000591890.1_Missense_Mutation_p.Y55N|H3F3B_ENST00000589599.1_Missense_Mutation_p.Y55N|H3F3B_ENST00000587560.1_Missense_Mutation_p.Y55N|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.Y55N|H3F3B_ENST00000592643.1_Missense_Mutation_p.Y55N	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	55					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACTTCTGATAACGACGAATC	0.632000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	38					0	0	0.000443	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797154	42797154	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:42797154G>A	ENST00000314073.5	+	6	1259	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	GLTSCR1L_ENST00000394168.1_Silent_p.V361V					GLTSCR1-like																		ACATGTCTGTGAACATTGTAA	0.498000													28	116					0	0	0.005443	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968738	62968738	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62968738G>A	ENST00000430983.1	-	0	1506					NR_026903.1																						AACACAGAAGGCATCTTCAGG	0.353000													71	29					0	0	0.003610	0	0
FBXO30	84085	broad.mit.edu	37	6	146121323	146121323	+	Silent	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:146121323G>T	ENST00000237281.4	-	3	2323	c.2157C>A	c.(2155-2157)atC>atA	p.I719I		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	719							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)		ATGGCAAAGGGATTGCTTCCT	0.393000													46	54					6.4308e-24	1.11813e-23	0.003610	1	0
TRPC4	7223	broad.mit.edu	37	13	38211564	38211564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:38211564G>A	ENST00000379705.3	-	11	3267	c.2410C>T	c.(2410-2412)Cat>Tat	p.H804Y	TRPC4_ENST00000379681.3_Missense_Mutation_p.H809Y|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.H631Y|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.H631Y|TRPC4_ENST00000358477.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	804	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GATCTCGGATGAATCAGGGTG	0.448000													39	39					0	0	0.001287	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261101	62261101	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:62261101C>T	ENST00000416284.3	-	2	1690	c.106_splice	c.e2+1	p.A36_splice	FAM19A2_ENST00000551619.1_Splice_Site_p.A36_splice|FAM19A2_ENST00000551449.1_Splice_Site_p.G36_splice	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	36						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AAAAGCTTACCTTTATGATGG	0.333000													23	46					0	0	0.005443	0	0
HYDIN	54768	broad.mit.edu	37	16	71012907	71012907	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:71012907C>T	ENST00000393567.2	-	30	4698	c.4548G>A	c.(4546-4548)agG>agA	p.R1516R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1516										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGTTTTTCCTGGCTTGAT	0.433000													7	22					0	0	0.003080	0	0
COL21A1	81578	broad.mit.edu	37	6	55942371	55942371	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55942371C>T	ENST00000244728.5	-	18	2210	c.1812_splice	c.e18-1	p.G605_splice	COL21A1_ENST00000535941.1_Splice_Site_p.G605_splice|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Splice_Site_p.G602_splice|COL21A1_ENST00000370808.2_Splice_Site_p.G5_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	605	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGGATTCCCTAAAAACAA	0.318000													4	12					0	0	0.000602	0	0
DNAH11	8701	broad.mit.edu	37	7	21598584	21598584	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:21598584G>A	ENST00000328843.6	+	3	691	c.660G>A	c.(658-660)aaG>aaA	p.K220K	DNAH11_ENST00000409508.3_Silent_p.K220K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	220	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						TTGCAGGAAAGATGGATCTGG	0.388000									Kartagener syndrome				7	5					0	0	0.000443	0	0
MYO15A	51168	broad.mit.edu	37	17	18025694	18025694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:18025694G>A	ENST00000205890.5	+	2	3918	c.3580G>A	c.(3580-3582)Gag>Aag	p.E1194K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1194	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)					CTCCTGGGAGGAGGTCGGCCC	0.632000													16	21					0	0	0.004990	0	0
NR2E1	7101	broad.mit.edu	37	6	108502808	108502808	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:108502808C>T	ENST00000368986.4	+	8	1656	c.948C>T	c.(946-948)gcC>gcT	p.A316A	NR2E1_ENST00000368983.3_Silent_p.A353A	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	316	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCATTGCAGCCCTTCAAGATG	0.448000													33	43					0	0	0.002522	0	0
TTN	7273	broad.mit.edu	37	2	179623863	179623863	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179623863A>C	ENST00000589042.1	-	44	10375	c.10151T>G	c.(10150-10152)aTc>aGc	p.I3384S	TTN_ENST00000342175.6_Missense_Mutation_p.I3338S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I3384S|TTN_ENST00000460472.2_Missense_Mutation_p.I3338S|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I3384S|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I3338S|TTN_ENST00000342992.6_Missense_Mutation_p.I3384S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3097	Ig-like 20.						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)			AGATGGCTTGATTTTCTTGTC	0.368000													31	20					0	0	0.002445	0	0
NBEA	26960	broad.mit.edu	37	13	35758160	35758160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:35758160C>T	ENST00000400445.3	+	30	5413	c.4879C>T	c.(4879-4881)Ctt>Ttt	p.L1627F	NBEA_ENST00000379939.2_Missense_Mutation_p.L1624F|NBEA_ENST00000310336.4_Missense_Mutation_p.L1627F|NBEA_ENST00000540320.1_Missense_Mutation_p.L1627F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1627						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCATGGATTCCTTGCCAAGTT	0.413000													12	29					0	0	0.002450	0	0
KRT39	390792	broad.mit.edu	37	17	39123069	39123069	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39123069T>C	ENST00000355612.2	-	1	75	c.40A>G	c.(40-42)Acc>Gcc	p.T14A	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	14	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGACATGGGGTTGAAGGAGAA	0.468000													71	78					0	0	0.003610	0	0
MC2R	4158	broad.mit.edu	37	18	13885095	13885095	+	Silent	SNP	G	G	A	rs149161443	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:13885095G>A	ENST00000327606.3	-	2	603	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	141					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCATGGTCACGATGCTGTGGT	0.582000													12	20					0	0	0.000978	0	0
GFRA1	2674	broad.mit.edu	37	10	117849277	117849277	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:117849277A>G	ENST00000439649.3	-	8	1524	c.1157T>C	c.(1156-1158)gTt>gCt	p.V386A	GFRA1_ENST00000355422.6_Missense_Mutation_p.V391A|GFRA1_ENST00000544592.1_Missense_Mutation_p.V270A|GFRA1_ENST00000369236.1_Missense_Mutation_p.V386A	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	391					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CGGTGGCAAAACATGAGTGGG	0.562000													35	46					0	0	0.004878	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581615	140581615	+	Silent	SNP	G	G	A	rs148762649		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140581615G>A	ENST00000354757.3	+	1	2268	c.2268G>A	c.(2266-2268)acG>acA	p.T756T	PCDHB11_ENST00000536699.1_Silent_p.T391T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		756					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGTCTGACGGGAGGTTCCG	0.527000													42	29					0	0	0.002222	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595634	31595634	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:31595634C>T	ENST00000376033.2	+	12	1617	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PRRC2A_ENST00000376007.4_Silent_p.S461S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	461	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGAGATTTCCCTGGCAGTGG	0.627000													34	18					0	0	0.001287	0	0
HBP1	26959	broad.mit.edu	37	7	106836326	106836326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:106836326G>A	ENST00000222574.4	+	9	1301	c.1115G>A	c.(1114-1116)aGt>aAt	p.S372N	HBP1_ENST00000485846.1_Missense_Mutation_p.S372N|HBP1_ENST00000468410.1_Missense_Mutation_p.S372N|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	372					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						GTGTTAAGTAGTATGGCTCGC	0.368000													32	41					0	0	0.003610	0	0
FCN1	2219	broad.mit.edu	37	9	137806247	137806247	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:137806247C>T	ENST00000371806.3	-	4	382	c.291G>A	c.(289-291)ggG>ggA	p.G97G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	97					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CTCCACGCATCCCCTTCTCTC	0.632000													31	19					0	0	0.001786	0	0
TRPC4	7223	broad.mit.edu	37	13	38320325	38320325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:38320325G>A	ENST00000379705.3	-	3	1503	c.646C>T	c.(646-648)Cct>Tct	p.P216S	TRPC4_ENST00000379681.3_Missense_Mutation_p.P216S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P216S|TRPC4_ENST00000426868.2_Missense_Mutation_p.P216S|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.P216S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P216S|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.P216S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	216					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGAGAAAAGGATCTTCGCTT	0.498000													14	49					0	0	0.001855	0	0
ABCC9	10060	broad.mit.edu	37	12	22028599	22028599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:22028599C>T	ENST00000261200.4	-	15	2080	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R658Q|ABCC9_ENST00000261201.4_Missense_Mutation_p.R694Q	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	694	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R694Q(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTTGGAATTCGAATATCTAT	0.308000													14	48					0	0	0.001216	0	0
LRRK2	120892	broad.mit.edu	37	12	40687346	40687346	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:40687346G>A	ENST00000298910.7	+	21	2747		c.e21-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCAAAATAGGAAGTGAAGG	0.323000													8	7					0	0	0.003080	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969266	22969266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:22969266G>A	ENST00000356864.3	+	2	626	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	32					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGCCCGGCAGGAGGAAGTTCC	0.557000													6	22					0	0	0.001984	0	0
SCN3A	6328	broad.mit.edu	37	2	165984148	165984148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:165984148C>T	ENST00000360093.3	-	18	3877	c.3386G>A	c.(3385-3387)aGc>aAc	p.S1129N	SCN3A_ENST00000283254.7_Missense_Mutation_p.S1129N|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1080N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACCTCTTTGCTTTCTTCTAG	0.358000													19	27					0	0	0.000958	0	0
PPP6R3	55291	broad.mit.edu	37	11	68315627	68315627	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:68315627C>T	ENST00000393799.2	+	5	774	c.507C>T	c.(505-507)ctC>ctT	p.L169L	PPP6R3_ENST00000265636.5_Silent_p.L169L|PPP6R3_ENST00000534534.1_Silent_p.L78L|PPP6R3_ENST00000524845.1_Silent_p.L169L|PPP6R3_ENST00000393800.2_Silent_p.L169L|PPP6R3_ENST00000527403.2_Silent_p.L169L|PPP6R3_ENST00000529710.1_Silent_p.L169L|PPP6R3_ENST00000265637.4_Silent_p.L169L|PPP6R3_ENST00000393801.3_Silent_p.L169L|PPP6R3_ENST00000524904.1_Silent_p.L169L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	169					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						TGCTCAGGCTCCTGACGTGTA	0.448000													14	90					0	0	0.002450	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52705250	52705250	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52705250T>A	ENST00000444322.2	+	2	152	c.68T>A	c.(67-69)tTg>tAg	p.L23*	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000322088.6_Silent_p.V44V			P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	0	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTTGGGGTTGAAAGGACCC	0.517000			Mis		clear cell ovarian carcinoma								14	33					0	0	0.003163	0	0
BDP1	55814	broad.mit.edu	37	5	70820117	70820117	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:70820117T>G	ENST00000358731.4	+	25	6002	c.5739T>G	c.(5737-5739)ccT>ccG	p.P1913P	BDP1_ENST00000380675.2_Silent_p.P50P	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1913					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTCCTGAACCTGTTTCTGCTC	0.388000													23	40					0	0	0.003954	0	0
BHMT2	23743	broad.mit.edu	37	5	78379596	78379596	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:78379596G>A	ENST00000255192.3	+	7	993	c.927G>A	c.(925-927)agG>agA	p.R309R	BHMT2_ENST00000521567.1_Silent_p.R245R|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCCAGAAAGGGGCTTTTTGC	0.527000													4	16					0	0	0.000602	0	0
C2orf40	84417	broad.mit.edu	37	2	106688311	106688311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:106688311G>A	ENST00000238044.3	+	2	200	c.91G>A	c.(91-93)Gga>Aga	p.G31R	C2orf40_ENST00000409944.1_5'UTR|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	31						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TGGCATAAGTGGAAATAAACT	0.358000													4	13					0	0	0.000248	0	0
CAMK1	8536	broad.mit.edu	37	3	9804607	9804607	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:9804607C>T	ENST00000256460.3	-	5	597	c.420G>A	c.(418-420)cgG>cgA	p.R140R	OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	140	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCTTGAGATCCCGGTGTACAA	0.582000													7	29					0	0	0.001984	0	0
RNF217	154214	broad.mit.edu	37	6	125397890	125397890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:125397890C>T	ENST00000521654.2	+	4	1369	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	RNF217_ENST00000560949.1_Missense_Mutation_p.R222C|RNF217_ENST00000368414.2_Missense_Mutation_p.R19C|RNF217_ENST00000275184.6_Missense_Mutation_p.R101C|RNF217_ENST00000359704.2_Missense_Mutation_p.R165C			Q8TC41	RN217_HUMAN	ring finger protein 217	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TGAGAGATACCGCCAGCTCCG	0.443000													44	48					0	0	0.003610	0	0
ATP2C2	9914	broad.mit.edu	37	16	84482226	84482226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:84482226C>T	ENST00000416219.2	+	17	1680	c.1591C>T	c.(1591-1593)Ccg>Tcg	p.P531S	ATP2C2_ENST00000262429.4_Missense_Mutation_p.P531S|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	531					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						CATCCCCCTGCCGCTGACGCC	0.572000													23	35					0	0	0.003330	0	0
ZNF253	56242	broad.mit.edu	37	19	20002636	20002636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:20002636C>T	ENST00000589717.1	+	4	672	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	ZNF253_ENST00000355650.4_Missense_Mutation_p.H118Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	194					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGAAAATTCATACTGGAGA	0.353000													12	20					0	0	0.002450	0	0
DAO	1610	broad.mit.edu	37	12	109278948	109278948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:109278948C>T	ENST00000228476.3	+	2	370	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	DAO_ENST00000551281.1_Missense_Mutation_p.L56F	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	56					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GCAGCCCTACCTTTCTGACCC	0.617000													34	26					0	0	0.002522	0	0
FUT9	10690	broad.mit.edu	37	6	96651444	96651444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:96651444C>T	ENST00000302103.5	+	3	739	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	138					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTTGGAATCACCAACTCAC	0.463000													10	30					0	0	0.000673	0	0
OR1L8	138881	broad.mit.edu	37	9	125329963	125329963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125329963G>A	ENST00000304865.2	-	1	875	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCGTAGGTGGATGGGGGCTG	0.458000													13	34					0	0	0.003163	0	0
RFWD2	64326	broad.mit.edu	37	1	176132980	176132980	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:176132980A>G	ENST00000367669.3	-	4	1127	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L	RFWD2_ENST00000308769.8_Missense_Mutation_p.F205L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	205					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCAATTTGAACCTCTTTTCC	0.269000													22	26					0	0	0.001512	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295918	120295918	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120295918G>T	ENST00000369406.3	-	7	1328	c.1279C>A	c.(1279-1281)Cag>Aag	p.Q427K	HMGCS2_ENST00000544913.2_Missense_Mutation_p.Q385K	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	427					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)		GCAGCATCCTGGGATACTCGA	0.498000													32	1959					0.000566183	0.000969971	0.004990	1	0
CD1A	909	broad.mit.edu	37	1	158225110	158225110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158225110C>T	ENST00000289429.5	+	2	828	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	99					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGAGGGAATTCGTAGATACGC	0.468000													6	27					0	0	0.001984	0	0
SLC10A6	345274	broad.mit.edu	37	4	87769914	87769914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:87769914C>T	ENST00000273905.6	-	1	502	c.355G>A	c.(355-357)Gtt>Att	p.V119I	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	119						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCTCCATCAACCCAGAAGGTG	0.493000													43	46					0	0	0.003610	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049230	23049230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:23049230C>T	ENST00000221132.3	-	10	1448	c.1384G>A	c.(1384-1386)Ggc>Agc	p.G462S		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	462					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)		ACGGCAGAGCCTGTGCCATCT	0.423000													18	16					0	0	0.001523	0	0
LY9	4063	broad.mit.edu	37	1	160783507	160783507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160783507C>T	ENST00000263285.5	+	3	566	c.536C>T	c.(535-537)tCc>tTc	p.S179F	LY9_ENST00000368041.2_Missense_Mutation_p.S139F|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.S179F|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	179	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTAATGTGCTCCGTGAAGGGG	0.532000													29	36					0	0	0.001271	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560520	32560520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:32560520G>A	ENST00000427288.1	+	8	1198	c.718G>A	c.(718-720)Ggc>Agc	p.G240S	TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.G156S|TMEM39B_ENST00000336294.5_Missense_Mutation_p.G355S			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	355						integral to membrane		p.G228R(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGCCCATCTGGGCTGTTGGCA	0.627000													11	17					0	0	0.000978	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901088	56901088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:56901088C>T	ENST00000438926.2	+	2	418	c.389C>T	c.(388-390)cCc>cTc	p.P130L	SLC12A3_ENST00000563236.1_Missense_Mutation_p.P130L|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P129L|SLC12A3_ENST00000262502.5_Missense_Mutation_p.P129L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	130					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAGAAGAACCCCGAGGAGCCA	0.657000													5	5					0	0	0.000602	0	0
KIT	3815	broad.mit.edu	37	4	55564466	55564466	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:55564466C>T	ENST00000288135.5	+	3	451	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	118					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAAGCTTTTCCTTGTTGACC	0.458000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				20	21					0	0	0.001523	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159652	18159652	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:18159652G>A	ENST00000396275.2	+	3	1264	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	301						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGCCTGAGGTGGATGAAGGTG	0.552000													12	53					0	0	0.001368	0	0
ADD1	118	broad.mit.edu	37	4	2910299	2910299	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:2910299T>C	ENST00000355842.3	+	13	2436	c.1573T>C	c.(1573-1575)Tgt>Cgt	p.C525R	ADD1_ENST00000398125.1_Missense_Mutation_p.C556R|ADD1_ENST00000503455.2_Missense_Mutation_p.C556R|ADD1_ENST00000446856.1_Missense_Mutation_p.C525R|ADD1_ENST00000398123.2_Missense_Mutation_p.C556R|ADD1_ENST00000398129.1_Missense_Mutation_p.C525R|ADD1_ENST00000264758.7_Missense_Mutation_p.C556R|ADD1_ENST00000513328.2_Missense_Mutation_p.C525R			P35611	ADDA_HUMAN	adducin 1 (alpha)	525					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGTTTTGTGTGGTGTAGT	0.547000													19	17					0	0	0.001523	0	0
GK2	2712	broad.mit.edu	37	4	80327838	80327838	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:80327838G>T	ENST00000358842.3	-	1	1534	c.1517C>A	c.(1516-1518)gCc>gAc	p.A506D		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	506					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTCATTACGGCTTTCTTCCA	0.458000													37	53					4.01765e-15	6.96112e-15	0.002222	1	0
FAM111A	63901	broad.mit.edu	37	11	58919359	58919359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:58919359C>T	ENST00000528737.1	+	5	3036	c.218C>T	c.(217-219)cCc>cTc	p.P73L	FAM111A_ENST00000533703.1_Missense_Mutation_p.P73L|FAM111A_ENST00000361723.3_Missense_Mutation_p.P73L|FAM111A_ENST00000531147.1_Missense_Mutation_p.P73L|FAM111A_ENST00000420244.1_Missense_Mutation_p.P73L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	73					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGACCATGCCCCAAAATAGG	0.403000													47	22					0	0	0.003610	0	0
IFNA16	3449	broad.mit.edu	37	9	21217191	21217191	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:21217191C>T	ENST00000380216.1	-	1	119	c.114G>A	c.(112-114)ttG>ttA	p.L38L		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	38					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCAGGAGTATCAAGGCCCTCC	0.502000													52	7					0	0	0.003610	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680180	67680180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:67680180C>T	ENST00000433211.1	-	18	2770	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	CTNNA3_ENST00000373735.1_Missense_Mutation_p.E205K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E866K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	866					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCACACGTTTCCTCTGGCTTC	0.468000													37	46					0	0	0.004878	0	0
SPAG17	200162	broad.mit.edu	37	1	118583458	118583458	+	Nonsense_Mutation	SNP	C	C	A	rs150261740	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118583458C>A	ENST00000336338.5	-	22	3126	c.3061G>T	c.(3061-3063)Gga>Tga	p.G1021*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1021						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATATTGTATCCGTGAAACTAG	0.373000													7	297					0.00198382	0.00338838	0.001984	1	0
UBXN11	91544	broad.mit.edu	37	1	26620703	26620703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:26620703C>T	ENST00000374222.1	-	9	1016	c.552G>A	c.(550-552)tgG>tgA	p.W184*	UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000535108.1_Nonsense_Mutation_p.W26*|UBXN11_ENST00000436301.2_Nonsense_Mutation_p.W109*|UBXN11_ENST00000374221.3_Nonsense_Mutation_p.W184*|UBXN11_ENST00000357089.4_Nonsense_Mutation_p.W151*|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374217.2_Nonsense_Mutation_p.W151*			Q5T124	UBX11_HUMAN	UBX domain protein 11	184						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TACCTGGCTTCCAGAACTTCT	0.592000													18	33					0	0	0.001216	0	0
EPPK1	83481	broad.mit.edu	37	8	144946633	144946633	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144946633C>T	ENST00000525985.1	-	2	860	c.789G>A	c.(787-789)gaG>gaA	p.E263E				P58107	EPIPL_HUMAN	epiplakin 1	263						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)			CCAGCCTGCCCTCCCGCAGAC	0.701000													3	2					0	0	0.000248	0	0
CASR	846	broad.mit.edu	37	3	121981226	121981226	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:121981226C>T	ENST00000498619.1	+	4	1782	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	CASR_ENST00000490131.1_Silent_p.S448S|CASR_ENST00000296154.5_Silent_p.S448S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	448					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAATGGCTCCTGTGCAGACA	0.473000													18	76					0	0	0.000958	0	0
HECW1	23072	broad.mit.edu	37	7	43351432	43351432	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:43351432G>C	ENST00000395891.1	+	4	703	c.98G>C	c.(97-99)cGc>cCc	p.R33P	HECW1_ENST00000453890.1_Missense_Mutation_p.R33P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	33					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAGCCGACGCCGGTGCAAG	0.607000													11	45					0	0	0.000673	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675732	31675732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:31675732C>T	ENST00000503322.1	+	3	470	c.467C>T	c.(466-468)tCt>tTt	p.S156F	LY6G6F_ENST00000556581.1_Missense_Mutation_p.S156F|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.S156F																							CGCATGGACTCTGTGACCTGG	0.622000													70	226					0	0	0.003610	0	0
ANKHD1	54882	broad.mit.edu	37	5	139917122	139917122	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:139917122C>T	ENST00000297183.6	+	31	7300	c.7176C>T	c.(7174-7176)gtC>gtT	p.V2392V	ANKHD1_ENST00000544120.1_Silent_p.V716V|ANKHD1_ENST00000360839.2_Silent_p.V2392V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V2392V	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)			CCAGTTTTGTCGCTCCCGTTG	0.522000													11	12					0	0	0.001855	0	0
ZNF761	388561	broad.mit.edu	37	19	53945569	53945569	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:53945569C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			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)		TGGCAGAGTCCCGTTGCTGAG	0.488000													31	30					0	0	0.001485	0	0
SLX4	84464	broad.mit.edu	37	16	3633161	3633161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:3633161G>A	ENST00000294008.3	-	14	5730	c.5090C>T	c.(5089-5091)cCa>cTa	p.P1697L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1697	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				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						TTGAGAGGCTGGGATCTGGGC	0.592000								Direct reversal of damage					15	61					0	0	0.003163	0	0
MRPS5	64969	broad.mit.edu	37	2	95756221	95756221	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:95756221G>A	ENST00000272418.2	-	11	1186	c.978C>T	c.(976-978)ctC>ctT	p.L326L		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	326					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGATGCCAATGAGCCGGCAGA	0.567000													22	44					0	0	0.002780	0	0
IGSF10	285313	broad.mit.edu	37	3	151165794	151165794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:151165794G>A	ENST00000282466.3	-	4	1974	c.1975C>T	c.(1975-1977)Caa>Taa	p.Q659*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	659	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGAAACTTGGAAAATCAAA	0.433000													17	56					0	0	0.004007	0	0
DNAH9	1770	broad.mit.edu	37	17	11737988	11737988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:11737988G>A	ENST00000262442.3	+	49	9348	c.9280G>A	c.(9280-9282)Gaa>Aaa	p.E3094K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3094K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3094	Stalk (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)		GGCTGCCCAGGAAGTAGAGCT	0.507000													17	13					0	0	0.001216	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157963677	157963677	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:157963677C>T	ENST00000359775.5	+	2	1195	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZDHHC14_ENST00000414563.2_Silent_p.F102F			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	102						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCATCCTGTTCTTCTTTGTGA	0.602000													16	47					0	0	0.001216	0	0
ALOX5	240	broad.mit.edu	37	10	45938946	45938946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:45938946G>A	ENST00000374391.2	+	11	1587	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	ALOX5_ENST00000542434.1_Missense_Mutation_p.D512N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	512	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)	CTTCGTGAACGATGTCTACGT	0.687000													6	15					0	0	0.004482	0	0
COL22A1	169044	broad.mit.edu	37	8	139790604	139790604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139790604C>T	ENST00000303045.6	-	15	2196	c.1750G>A	c.(1750-1752)Gga>Aga	p.G584R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G584R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	584	Collagen-like 3.|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)			ACAGGAGCTCCGACACGTCCA	0.537000										HNSCC(7;0.00092)			14	16					0	0	0.004007	0	0
CYLC1	1538	broad.mit.edu	37	X	83126557	83126557	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:83126557G>A	ENST00000329312.4	+	3	193	c.156G>A	c.(154-156)ttG>ttA	p.L52L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	52					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAGACCTTTGAAATCACAAA	0.299000													33	2					0	0	0.004289	0	0
NLRP13	126204	broad.mit.edu	37	19	56423175	56423175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:56423175C>T	ENST00000588751.1	-	5	2032	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E670K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	670							ATP binding	p.E670*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTTGGAGTTCTTCGTCCTCC	0.408000													25	47					0	0	0.003330	0	0
AMBN	258	broad.mit.edu	37	4	71472178	71472178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:71472178G>A	ENST00000322937.6	+	13	1178	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	AMBN_ENST00000449493.2_Missense_Mutation_p.D344N	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	359					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTCCCTAAGGATGACATTCC	0.587000													14	14					0	0	0.001855	0	0
OR4K5	79317	broad.mit.edu	37	14	20388834	20388834	+	Silent	SNP	C	C	T	rs144511665	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20388834C>T	ENST00000315915.4	+	1	94	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCAAAAACTCCAGCTTTTCT	0.403000													13	83					0	0	0.001855	0	0
SMG7	9887	broad.mit.edu	37	1	183514306	183514306	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:183514306C>T	ENST00000367537.3	+	17	2373	c.2178C>T	c.(2176-2178)ccC>ccT	p.P726P	SMG7_ENST00000508461.1_Silent_p.P701P|SMG7_ENST00000347615.2_Silent_p.P743P|SMG7_ENST00000515829.2_Silent_p.P697P|SMG7_ENST00000456731.2_Silent_p.P655P|SMG7_ENST00000507469.1_Silent_p.P697P			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	743	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCAGCAACCCCTTACATCTT	0.542000													9	70					0	0	0.001368	0	0
COL21A1	81578	broad.mit.edu	37	6	56044684	56044684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:56044684C>T	ENST00000244728.5	-	3	729	c.332G>A	c.(331-333)gGa>gAa	p.G111E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G111E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G111E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	111	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G111E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTGTTTCCTCCTAAGTAGAG	0.463000													11	27					0	0	0.001368	0	0
ARMC4	55130	broad.mit.edu	37	10	28228904	28228904	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:28228904C>T	ENST00000305242.5	-	14	2111	c.2019G>A	c.(2017-2019)agG>agA	p.R673R	ARMC4_ENST00000537576.1_Silent_p.R365R|ARMC4_ENST00000545014.1_Silent_p.R198R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	673							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTCAATGATCCTTTCTGCTT	0.413000													21	23					0	0	0.004656	0	0
SYT4	6860	broad.mit.edu	37	18	40853613	40853613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:40853613G>A	ENST00000255224.3	-	2	1149	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	SYT4_ENST00000590752.1_Missense_Mutation_p.L243F|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	261	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATTCCCGAGAGAGGAATTAGA	0.338000													23	12					0	0	0.003330	0	0
NPAS4	266743	broad.mit.edu	37	11	66189691	66189691	+	Silent	SNP	G	G	A	rs147825645	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66189691G>A	ENST00000311034.2	+	2	452	c.276G>A	c.(274-276)ggG>ggA	p.G92G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	92	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGCCGAGGGGAAATTGCTCT	0.602000													10	45					0	0	0.000673	0	0
NLRP8	126205	broad.mit.edu	37	19	56485018	56485018	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:56485018G>A	ENST00000291971.3	+	7	2606	c.2534_splice	c.e7-1	p.S845_splice	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	845						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTCCCATAGGATAGAGAACT	0.512000													86	64					0	0	0.003610	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352526	51352526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:51352526C>T	ENST00000337334.2	+	7	590	c.575C>T	c.(574-576)aCt>aTt	p.T192I	ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.T85I|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.T115I	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	192							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAGGGACTGACTACGGATGCC	0.517000													20	74					0	0	0.002299	0	0
ZNF99	7652	broad.mit.edu	37	19	22941109	22941109	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22941109C>T	ENST00000397104.3	-	5	1328	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	ZNF99_ENST00000596209.1_Silent_p.K534K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTTTCCAGTAT	0.338000													26	32					0	0	0.001786	0	0
RABGAP1	23637	broad.mit.edu	37	9	125777884	125777884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:125777884C>T	ENST00000373647.4	+	12	1746	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	538					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						AGAAAAAATTCTTGAAACATG	0.323000													16	13					0	0	0.004007	0	0
IQCA1	79781	broad.mit.edu	37	2	237308122	237308122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:237308122C>T	ENST00000409907.3	-	9	1418	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	IQCA1_ENST00000431676.2_Missense_Mutation_p.E341K|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.E378K			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	382	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCATTTTTCGTCTTCTTCC	0.458000													12	49					0	0	0.000978	0	0
OSMR	9180	broad.mit.edu	37	5	38923310	38923310	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:38923310G>A	ENST00000274276.3	+	13	2226	c.1824G>A	c.(1822-1824)agG>agA	p.R608R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	608	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACAAAAAGGATTGCTTGTT	0.348000													17	18					0	0	0.000958	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43958684	43958684	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:43958684C>T	ENST00000282406.4	+	19	2996	c.2886C>T	c.(2884-2886)tcC>tcT	p.S962S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	962	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAATCATTTCCCCTCTGACAA	0.338000													84	178					0	0	0.003610	0	0
FBLN1	2192	broad.mit.edu	37	22	45923826	45923826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:45923826C>T	ENST00000348697.2	+	4	568	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	FBLN1_ENST00000442170.2_Nonsense_Mutation_p.Q141*|FBLN1_ENST00000402984.3_Nonsense_Mutation_p.Q179*|FBLN1_ENST00000340923.5_Nonsense_Mutation_p.Q141*|FBLN1_ENST00000327858.6_Nonsense_Mutation_p.Q141*|FBLN1_ENST00000262722.7_Nonsense_Mutation_p.Q141*			P23142	FBLN1_HUMAN	fibulin 1	141	Anaphylatoxin-like 3.		Q -> R (in dbSNP:rs136730).		interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACAGGTCTTCCAGGCATGCTG	0.597000													19	42					0	0	0.001523	0	0
SMAD9	4093	broad.mit.edu	37	13	37453718	37453718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:37453718C>T	ENST00000379826.4	-	2	451	c.109G>A	c.(109-111)Gca>Aca	p.A37T	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Missense_Mutation_p.A37T|SMAD9_ENST00000399275.2_Missense_Mutation_p.A37T	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	37	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGTCCACTGCCTTCTCTGCC	0.572000													13	53					0	0	0.004007	0	0
FLT4	2324	broad.mit.edu	37	5	180055994	180055994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:180055994G>A	ENST00000261937.6	-	8	1069	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	FLT4_ENST00000502649.1_Missense_Mutation_p.P331S|FLT4_ENST00000393347.3_Missense_Mutation_p.P331S|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	331	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGATGAAGGGATTTTCTGCC	0.652000													6	26					0	0	0.001168	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581953	84581953	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:84581953C>T	ENST00000286744.5	+	16	2034	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ADAMTSL3_ENST00000567476.1_Silent_p.L604L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	604	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			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)			TGAGACTGAGCTGCCCGAGGA	0.632000													11	31					0	0	0.000978	0	0
PTPRU	10076	broad.mit.edu	37	1	29631876	29631876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:29631876G>A	ENST00000373779.3	+	18	2885	c.2756G>A	c.(2755-2757)cGa>cAa	p.R919Q	PTPRU_ENST00000323874.8_Missense_Mutation_p.R919Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R919Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R919Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R919Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R929Q|PTPRU_ENST00000415600.2_3'UTR	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	929	Tyrosine-protein phosphatase 1.				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)		GATCGGCACCGAGTGAAACTG	0.567000													35	14					0	0	0.004289	0	0
MYO1G	64005	broad.mit.edu	37	7	45007284	45007284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:45007284C>T	ENST00000258787.7	-	14	1838	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	568	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TTGGTCACCTCTGTGATGTCC	0.637000													11	17					0	0	0.000978	0	0
HTR1A	3350	broad.mit.edu	37	5	63256820	63256820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:63256820C>T	ENST00000323865.3	-	1	960	c.727G>A	c.(727-729)Gga>Aga	p.G243R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	243					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGAGATGCTCCATGGCGGGTG	0.627000													19	15					0	0	0.005443	0	0
C18orf54	162681	broad.mit.edu	37	18	51888050	51888050	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:51888050C>T	ENST00000300091.5	+	3	653	c.321C>T	c.(319-321)ttC>ttT	p.F107F	C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Silent_p.F107F	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	107						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACTCAAACTTCATATCCTGTA	0.323000													8	17					0	0	0.003080	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36244917	36244917	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:36244917G>A	ENST00000258840.6	-	2	531	c.141C>T	c.(139-141)ttC>ttT	p.F47F	RALGAPA1_ENST00000389698.3_Silent_p.F47F|RALGAPA1_ENST00000382366.3_Silent_p.F47F|RALGAPA1_ENST00000307138.6_Silent_p.F47F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	47					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						AATGTTGGTCGAAAAACTGTT	0.264000													14	61					0	0	0.002450	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645690	51645690	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51645690A>C	ENST00000317643.6	+	1	133	c.64A>C	c.(64-66)Aac>Cac	p.N22H	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.N22H|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.N22H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	22					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACAGAAGAGTAACCGGAAGGA	0.612000													13	7					0	0	0.001368	0	0
PUS1	80324	broad.mit.edu	37	12	132428095	132428095	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:132428095C>T	ENST00000542167.2	+	5	1842	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	PUS1_ENST00000535067.1_Silent_p.P123P|PUS1_ENST00000443358.2_Silent_p.P388P|PUS1_ENST00000376649.3_Silent_p.P416P|PUS1_ENST00000440818.2_Silent_p.P388P			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	416						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TGCCCAGTCCCCTGGAAGGCA	0.607000													8	43					0	0	0.000443	0	0
SPP1	6696	broad.mit.edu	37	4	88902819	88902819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:88902819C>T	ENST00000237623.7	+	5	515	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.P110S|SPP1_ENST00000395080.3_Missense_Mutation_p.P137S	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	137					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)		CACTGATTTTCCCACGGACCT	0.468000													47	59					0	0	0.003610	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73922530	73922530	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:73922530C>T	ENST00000476977.1	+	2	1811	c.120C>T	c.(118-120)tcC>tcT	p.S40S	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.S40S|GTF2IRD1_ENST00000455841.2_Silent_p.S40S|GTF2IRD1_ENST00000265755.3_Silent_p.S40S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	40						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTTAGACTCCATGGTGAGTG	0.612000													26	24					0	0	0.002096	0	0
CCDC66	285331	broad.mit.edu	37	3	56651388	56651388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56651388C>T	ENST00000394672.3	+	14	2162	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	CCDC66_ENST00000436465.2_Missense_Mutation_p.P698S|CCDC66_ENST00000326595.7_Missense_Mutation_p.P664S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	698										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)		GAAGAAATATCCTAAAAGGCC	0.348000													10	43					0	0	0.001368	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677315	3677315	+	Silent	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3677315G>C	ENST00000344754.4	-	10	2600	c.2601C>G	c.(2599-2601)ggC>ggG	p.G867G	SIGLEC1_ENST00000202578.4_Silent_p.G867G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	867	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGTCCCCAAGGCCCAGTTCTC	0.582000													16	31					0	0	0.001523	0	0
ATP10A	57194	broad.mit.edu	37	15	25924899	25924899	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:25924899G>A	ENST00000356865.6	-	21	4200	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1363					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGCCTCCAGGGAGCAGACCG	0.657000													18	27					0	0	0.001216	0	0
LFNG	3955	broad.mit.edu	37	7	2565154	2565154	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:2565154C>T	ENST00000222725.5	+	4	708	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	LFNG_ENST00000338732.3_Silent_p.L101L|LFNG_ENST00000402045.1_Silent_p.L101L|LFNG_ENST00000402506.1_Silent_p.L159L|LFNG_ENST00000359574.3_Silent_p.L230L	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	230					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CAAGCCCAGCCTGGACAGGCC	0.692000													5	7					0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	90055296	90055296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:90055296C>T	ENST00000405460.2	+	58	12107	c.12011C>T	c.(12010-12012)tCc>tTc	p.S4004F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4004	Calx-beta 26.				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)		TTCAATATTTCCTTGATCAGT	0.373000													5	13					0	0	0.000602	0	0
WEE2	494551	broad.mit.edu	37	7	141420792	141420792	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:141420792G>A	ENST00000397541.2	+	5	1222	c.816G>A	c.(814-816)gtG>gtA	p.V272V	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	272	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACCCCCATGTGGTACGTTACT	0.408000													56	55					0	0	0.003610	0	0
SUN5	140732	broad.mit.edu	37	20	31573680	31573680	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:31573680G>A	ENST00000356173.3	-	11	851	c.759C>T	c.(757-759)gcC>gcT	p.A253A	SUN5_ENST00000375523.3_Silent_p.A228A	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	253	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACCCTCAAAGGCCCAGCAAT	0.547000													16	12					0	0	0.004990	0	0
AGPS	8540	broad.mit.edu	37	2	178299132	178299132	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:178299132A>C	ENST00000264167.4	+	3	574	c.428A>C	c.(427-429)aAa>aCa	p.K143T	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	143					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTGGAGCATAAAACTACCTCT	0.289000													19	13					0	0	0.002780	0	0
TFB2M	64216	broad.mit.edu	37	1	246711899	246711899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:246711899G>A	ENST00000366514.4	-	6	991	c.806C>T	c.(805-807)tCa>tTa	p.S269L	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	269					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATCAAATGATGACCAAGGCTC	0.398000													30	40					0	0	0.005524	0	0
DNAH17	8632	broad.mit.edu	37	17	76554246	76554246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:76554246C>T	ENST00000389840.5	-	14	2246	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E708K					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)			CGGAAAGTTTCGTTCTCTGAG	0.453000													9	23					0	0	0.004482	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958682	57958682	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:57958682C>T	ENST00000311591.3	+	1	777	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTTCTCCACCTGCGCCTCCC	0.572000													32	14					0	0	0.001512	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458098	45458098	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:45458098C>T	ENST00000548424.1	+	0	448																											GCCAGCATTCCCTCTCCAATC	0.507000													14	7					0	0	0.004990	0	0
INSRR	3645	broad.mit.edu	37	1	156823977	156823977	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156823977G>A	ENST00000368195.3	-	2	600	c.204C>T	c.(202-204)ttC>ttT	p.F68F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	68					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)					TGAGGCCGCGGAAGTCCTCCC	0.632000													10	15					0	0	0.000978	0	0
LRP1B	53353	broad.mit.edu	37	2	141143549	141143549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141143549G>A	ENST00000389484.3	-	67	11415	c.10444C>T	c.(10444-10446)Cag>Tag	p.Q3482*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3482	LDL-receptor class A 25.				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)		TTTTTACACTGGAATTCATGA	0.403000										TSP Lung(27;0.18)			42	35					0	0	0.002522	0	0
ZNF229	7772	broad.mit.edu	37	19	44933922	44933922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:44933922C>T	ENST00000291187.4	-	6	1338	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.G345E|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGGCATGTCTCCCACAGGGGC	0.498000													11	37					0	0	0.001368	0	0
PIPOX	51268	broad.mit.edu	37	17	27380468	27380468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:27380468G>A	ENST00000323372.4	+	4	841	c.515G>A	c.(514-516)gGa>gAa	p.G172E	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	172					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GTGCGTGACGGAGAGAAGGTG	0.532000													13	43					0	0	0.001855	0	0
DAGLA	747	broad.mit.edu	37	11	61505676	61505676	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:61505676C>T	ENST00000257215.5	+	16	1769	c.1653C>T	c.(1651-1653)ccC>ccT	p.P551P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	551					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)		GCACCAAGCCCAAAGTGAGCC	0.637000													4	7					0	0	0.000602	0	0
UNC13D	201294	broad.mit.edu	37	17	73832957	73832957	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:73832957G>A	ENST00000207549.4	-	13	1477	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	UNC13D_ENST00000412096.2_Silent_p.F366F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	366	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGCTGGGGAACTCCAGGC	0.627000									Familial Hemophagocytic Lymphohistiocytosis				14	76					0	0	0.003163	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172563838	172563838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:172563838C>T	ENST00000534253.2	+	5	454	c.286C>T	c.(286-288)Cca>Tca	p.P96S	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P108S|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P90S|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P90S|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P108S|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P96S|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P96S|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P96S			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	96					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGTGAGCACTCCAAGTGAAGC	0.453000													21	38					0	0	0.005443	0	0
CFTR	1080	broad.mit.edu	37	7	117174389	117174389	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:117174389C>T	ENST00000003084.6	+	5	681	c.549C>T	c.(547-549)ctC>ctT	p.L183L	CFTR_ENST00000454343.1_Silent_p.L183L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	183	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)	TTGTTAGTCTCCTTTCCAACA	0.303000									Cystic Fibrosis				17	26					0	0	0.001216	0	0
PRR3	80742	broad.mit.edu	37	6	30525943	30525943	+	Silent	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:30525943G>T	ENST00000376560.3	+	2	582	c.123G>T	c.(121-123)ctG>ctT	p.L41L	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Intron	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	41	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CCAGCCTTCTGGGCCCTCCCC	0.483000													12	65					0.000151284	0.000259738	0.001855	1	0
PPAP2C	8612	broad.mit.edu	37	19	291325	291325	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:291325C>T	ENST00000434325.2	-	1	68		c.e1+1		PPAP2C_ENST00000269812.3_Silent_p.R4R			O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C						sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		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)		CGAAGACCCACCTCCGCTGCA	0.761000													13	24					0	0	0.006122	0	0
PLCG2	5336	broad.mit.edu	37	16	81971415	81971415	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:81971415C>T	ENST00000359376.3	+	28	3319	c.3105C>T	c.(3103-3105)ggC>ggT	p.G1035G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1035	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGCGCACGGGCTACGTTCTGC	0.522000													24	28					0	0	0.005443	0	0
COL7A1	1294	broad.mit.edu	37	3	48607064	48607064	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:48607064G>A	ENST00000328333.8	-	101	7682	c.7575C>T	c.(7573-7575)atC>atT	p.I2525I	COL7A1_ENST00000454817.1_Silent_p.I2493I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2525	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)		GAGGCCCCAGGATCACAGCTG	0.692000													4	8					0	0	0.001168	0	0
PRDM14	63978	broad.mit.edu	37	8	70980555	70980555	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:70980555G>A	ENST00000276594.2	-	4	1023	c.822C>T	c.(820-822)atC>atT	p.I274I		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	274	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCCTTTGGCGATAAAACTAC	0.478000													15	49					0	0	0.003163	0	0
MUC17	140453	broad.mit.edu	37	7	100686845	100686845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100686845G>A	ENST00000306151.4	+	3	12212	c.12148G>A	c.(12148-12150)Gaa>Aaa	p.E4050K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4050						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)					CCCTTCATCAGAATCCAGCAG	0.532000													45	47					0	0	0.002522	0	0
FGA	2243	broad.mit.edu	37	4	155507389	155507389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:155507389G>A	ENST00000302053.3	-	5	1270	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	FGA_ENST00000403106.3_Missense_Mutation_p.P398S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	398					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)	CCAGAGCCTGGGCTATCTGGC	0.532000													43	67					0	0	0.001951	0	0
OBSCN	84033	broad.mit.edu	37	1	228466962	228466962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:228466962C>T	ENST00000570156.2	+	32	8574	c.8500C>T	c.(8500-8502)Ccc>Tcc	p.P2834S	OBSCN_ENST00000422127.1_Missense_Mutation_p.P2405S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P2405S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.P1252S|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1834	Ig-like 28.				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)				GACCTCCATCCCCTCAGTGCG	0.637000													12	18					0	0	0.003163	0	0
OR11H4	390442	broad.mit.edu	37	14	20711059	20711059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20711059C>T	ENST00000315409.2	+	1	162	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCAGATTTTCCTCTTCTCATT	0.443000													7	29					0	0	0.001984	0	0
ANO5	203859	broad.mit.edu	37	11	22271783	22271783	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:22271783G>A	ENST00000324559.8	+	10	1196	c.878_splice	c.e10-1	p.K293_splice		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	293						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTTTCACAGGAATTATTATG	0.318000													8	16					0	0	0.000443	0	0
MFRP	83552	broad.mit.edu	37	11	119217037	119217037	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:119217037G>A	ENST00000555262.1	-	2	261	c.102C>T	c.(100-102)tgC>tgT	p.C34C	MFRP_ENST00000449574.2_Silent_p.C34C|MFRP_ENST00000529147.1_Intron|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Silent_p.C34C|MFRP_ENST00000530681.1_Silent_p.C34C	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTGGGGGAGGGCAGGGTGGCC	0.637000													5	2					0	0	0.000602	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529150	102529150	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:102529150C>T	ENST00000372680.1	-	3	636	c.342G>A	c.(340-342)cgG>cgA	p.R114R		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTGCTTTCCGGGGCACAT	0.582000													22	29					0	0	0.001882	0	0
CCDC108	255101	broad.mit.edu	37	2	219888853	219888853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219888853C>T	ENST00000341552.5	-	15	2562	c.2479G>A	c.(2479-2481)Ggc>Agc	p.G827S	CCDC108_ENST00000453220.1_Missense_Mutation_p.G827S|CCDC108_ENST00000441968.1_Missense_Mutation_p.G827S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	827						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAAGGCCCGAAGTGGGC	0.607000													18	6					0	0	0.000958	0	0
NPNT	255743	broad.mit.edu	37	4	106859556	106859556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:106859556C>T	ENST00000379987.2	+	5	700	c.484C>T	c.(484-486)Cct>Tct	p.P162S	NPNT_ENST00000514622.1_Missense_Mutation_p.P162S|NPNT_ENST00000305572.8_Missense_Mutation_p.P162S|NPNT_ENST00000427316.2_Missense_Mutation_p.P192S|NPNT_ENST00000453617.2_Missense_Mutation_p.P179S|NPNT_ENST00000506666.1_Missense_Mutation_p.P192S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	162	EGF-like 3.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GCAGCTGGCTCCTGATGGGAG	0.512000													16	29					0	0	0.001523	0	0
FLG	2312	broad.mit.edu	37	1	152285985	152285985	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152285985C>T	ENST00000368799.1	-	3	1412	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	459	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCGTTCCCCTGACCGGC	0.587000									Ichthyosis				69	80					0	0	0.003610	0	0
OR4N2	390429	broad.mit.edu	37	14	20295728	20295728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20295728G>A	ENST00000568211.1	+	1	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41R			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCCTCCCTGGAAATTTTCT	0.443000													52	229					0	0	0.003610	0	0
MCTP2	55784	broad.mit.edu	37	15	94928667	94928667	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:94928667C>T	ENST00000357742.4	+	13	1701	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	MCTP2_ENST00000451018.3_Silent_p.I567I|MCTP2_ENST00000331706.4_Silent_p.I155I|MCTP2_ENST00000557742.1_Silent_p.I155I	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	567	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTAAAGATATCCATGATGTTT	0.368000													56	55					0	0	0.003610	0	0
TUBB6	84617	broad.mit.edu	37	18	12325643	12325643	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:12325643C>T	ENST00000317702.5	+	4	1089	c.855C>T	c.(853-855)acC>acT	p.T285T	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	285					'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)		GGGCCCTGACCGTGCCCGAGC	0.687000													25	5					0	0	0.003954	0	0
TNK1	8711	broad.mit.edu	37	17	7290399	7290399	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7290399G>A	ENST00000570896.1	+	10	1769	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	TNK1_ENST00000311668.2_Silent_p.G441G|TNK1_ENST00000576812.1_Silent_p.G446G			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	446	SH3.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CAGATGCGGGGGGCTTGCCAG	0.632000													7	12					0	0	0.001984	0	0
CCDC60	160777	broad.mit.edu	37	12	119968833	119968833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:119968833G>A	ENST00000327554.2	+	13	1981	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	506										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAGGATTTGGGAACTGTGCTC	0.502000													10	31					0	0	0.000673	0	0
FREM1	158326	broad.mit.edu	37	9	14851399	14851399	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:14851399C>T	ENST00000380881.4	-	7	1853	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	FREM1_ENST00000422223.2_Silent_p.V345V|FREM1_ENST00000380880.3_Silent_p.V345V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	345					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)		ACAGGTGAGTCACATAGCCCT	0.498000													26	2					0	0	0.003954	0	0
TOP1MT	116447	broad.mit.edu	37	8	144399903	144399903	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:144399903G>A	ENST00000523676.1	-	11	1431	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	TOP1MT_ENST00000329245.4_Silent_p.A440A|TOP1MT_ENST00000521193.1_Silent_p.A342A|TOP1MT_ENST00000519148.1_Silent_p.A342A			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	440					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGCGCGTCAGGGCCCGCAGCT	0.697000													7	14					0	0	0.000673	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202820	140202820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140202820C>T	ENST00000529859.1	+	1	1460	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	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)			CAGGAGAACGCCCTGGTGTCC	0.662000													15	31					0	0	0.006122	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476039	80476039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:80476039G>A	ENST00000265080.4	+	18	2799	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	911					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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTTATTATACGGAGAACGGCT	0.448000													66	39					0	0	0.003610	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798031	7798031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:7798031C>T	ENST00000303635.7	+	16	3878	c.3671C>T	c.(3670-3672)cCt>cTt	p.P1224L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P1224L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGAAGACCTCGTTCTGAA	0.438000			T	WWTR1	epitheliod hemangioendothelioma								14	48					0	0	0.003163	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761718	130761718	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:130761718G>T	ENST00000392429.1	+	2	2529	c.151G>T	c.(151-153)Gtt>Ttt	p.V51F	TMEM200A_ENST00000545622.1_Missense_Mutation_p.V51F|TMEM200A_ENST00000296978.3_Missense_Mutation_p.V51F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	51						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGTTGTGGTTGTTCGTGGCAA	0.502000													24	67					1.10923e-09	1.91687e-09	0.002780	1	0
SLC5A11	115584	broad.mit.edu	37	16	24909426	24909426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:24909426C>T	ENST00000449109.2	+	9	888	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	SLC5A11_ENST00000545376.1_Silent_p.F264F|SLC5A11_ENST00000565769.1_Silent_p.F270F|SLC5A11_ENST00000347898.3_Silent_p.F334F|SLC5A11_ENST00000424767.2_Silent_p.F299F|SLC5A11_ENST00000568579.1_Silent_p.F264F|SLC5A11_ENST00000539472.1_Silent_p.F270F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P202S|SLC5A11_ENST00000567758.1_Silent_p.F299F	NM_001258414.1	NP_001245343.1	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	366					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCATCCTCTTCCCAGGTGAGA	0.493000													39	31					0	0	0.001485	0	0
JAG1	182	broad.mit.edu	37	20	10630941	10630941	+	Silent	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:10630941A>G	ENST00000254958.5	-	9	1703	c.1188T>C	c.(1186-1188)ttT>ttC	p.F396F	JAG1_ENST00000423891.2_Silent_p.F237F	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	396	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACACACACTTAAATCCGTTAA	0.473000									Alagille Syndrome				12	15					0	0	0.002450	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770324	31770324	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:31770324G>A	ENST00000240587.4	-	2	702	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	125					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGTTGGAGAGGAAGTTGTTGT	0.567000													17	21					0	0	0.004990	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397042	3397042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:3397042G>A	ENST00000378378.4	+	15	2426	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.G378E|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.G386E|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.G386E	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	674	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)		CTCCGGGACGGAGAGACGGGA	0.677000													6	2					0	0	0.003080	0	0
PRKCA	5578	broad.mit.edu	37	17	64637530	64637530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:64637530G>A	ENST00000413366.3	+	4	372	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	116					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.D116N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CACCTTCTGCGATCACTGTGG	0.468000													42	91					0	0	0.003214	0	0
NACA	4666	broad.mit.edu	37	12	57111770	57111770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:57111770G>A	ENST00000454682.1	-	3	3825	c.3544C>T	c.(3544-3546)Cca>Tca	p.P1182S	NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_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						CCTCCTTTTGGGGAAGGAGGA	0.622000			T	BCL6	NHL								24	12					0	0	0.001512	0	0
MUC17	140453	broad.mit.edu	37	7	100683924	100683924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100683924C>T	ENST00000306151.4	+	3	9291	c.9227C>T	c.(9226-9228)cCt>cTt	p.P3076L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3076	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)					TCCAACAGTCCTGTGGTCACT	0.478000													146	159					0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71507736	71507736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:71507736C>T	ENST00000396073.3	+	9	874	c.593C>T	c.(592-594)cCt>cTt	p.P198L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	198					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTACAGAATCCTTACTTTGGA	0.353000													43	153					0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326018	79326018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:79326018G>A	ENST00000428286.1	-	8	1295	c.95C>T	c.(94-96)tCt>tTt	p.S32F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S391F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	391					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTATGTCAGAACCATACAA	0.512000													8	15					0	0	0.000443	0	0
ASNA1	439	broad.mit.edu	37	19	12858873	12858873	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:12858873C>T	ENST00000591090.1	+	8	1104	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ASNA1_ENST00000357332.3_Silent_p.F334F			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	334					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TCAACACCTTCTCGGCCCTCC	0.627000													23	21					0	0	0.003330	0	0
XPC	7508	broad.mit.edu	37	3	14200020	14200020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:14200020G>A	ENST00000285021.7	-	9	1577	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	XPC_ENST00000449060.2_Missense_Mutation_p.P418S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	455	Asp/Glu-rich (acidic).				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						TCATCAGAGGGATCAGAGGCT	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	34					0	0	0.000978	0	0
NPTXR	23467	broad.mit.edu	37	22	39219171	39219171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:39219171C>T	ENST00000333039.2	-	4	1318	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	399	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGCTCCCCGTCCTGGTAG	0.627000													17	26					0	0	0.006122	0	0
ZNF530	348327	broad.mit.edu	37	19	58118495	58118495	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:58118495C>T	ENST00000332854.6	+	3	1822	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTCTGCCCTCCTTCAGCATA	0.458000													7	36					0	0	0.001984	0	0
GFRAL	389400	broad.mit.edu	37	6	55196546	55196546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55196546C>T	ENST00000340465.2	+	2	142	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	19						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAATACACTTCCCAAACCAAT	0.343000													25	24					0	0	0.004656	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337876	40337876	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:40337876A>C	ENST00000310169.2	+	2	236	c.97A>C	c.(97-99)Aag>Cag	p.K33Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	33					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ATATGCTCAGAAGTTGTTTAA	0.403000													21	26					0	0	0.001523	0	0
ZNF800	168850	broad.mit.edu	37	7	127014581	127014581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:127014581G>A	ENST00000393313.1	-	5	1400	c.809C>T	c.(808-810)cCa>cTa	p.P270L	ZNF800_ENST00000393312.1_Missense_Mutation_p.P270L|ZNF800_ENST00000265827.3_Missense_Mutation_p.P270L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGATTGGTTTGGATTCTTTCG	0.363000													44	76					0	0	0.003610	0	0
METRNL	284207	broad.mit.edu	37	17	81052048	81052048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:81052048G>A	ENST00000571814.1	+	3	1359	c.418G>A	c.(418-420)Gac>Aac	p.D140N	METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000570778.1_Missense_Mutation_p.D140N|METRNL_ENST00000320095.7_Missense_Mutation_p.D222N			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	222						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGAGCGGCAGGACTCAGCCAT	0.642000													66	43					0	0	0.003610	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4393215	4393215	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:4393215C>G	ENST00000572467.1	-	28	2918	c.2850G>C	c.(2848-2850)gaG>gaC	p.E950D	PAM16_ENST00000576217.1_Missense_Mutation_p.E27D|PAM16_ENST00000573553.1_Missense_Mutation_p.E47D|CORO7-PAM16_ENST00000572274.1_Intron|PAM16_ENST00000575848.1_Missense_Mutation_p.E39D|PAM16_ENST00000571941.1_Missense_Mutation_p.E47D|PAM16_ENST00000577031.1_Missense_Mutation_p.E27D|PAM16_ENST00000318059.3_Missense_Mutation_p.E27D	NM_001201479.1	NP_001188408.1																					TACCTGCAAACTCCTGCCGCA	0.637000													7	16					0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75072513	75072513	+	Missense_Mutation	SNP	C	C	T	rs144402838		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:75072513C>T	ENST00000326665.5	-	10	1479	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G224R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	421	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						AGTTCCTCTCCTTTCTCAGTG	0.408000													63	29					0	0	0.003610	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061501	13061501	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:13061501C>T	ENST00000014914.5	+	2	1208	c.318C>T	c.(316-318)tcC>tcT	p.S106S	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	106						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TCCTCTTTTCCATCTGCTTCT	0.592000													31	88					0	0	0.003755	0	0
TNFRSF8	943	broad.mit.edu	37	1	12170215	12170215	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:12170215G>A	ENST00000263932.2	+	6	852	c.630G>A	c.(628-630)agG>agA	p.R210R	TNFRSF8_ENST00000417814.2_Silent_p.R99R	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	210					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)		AACTGACGAGGGCTCCCGACT	0.617000													7	16					0	0	0.003080	0	0
COL5A3	50509	broad.mit.edu	37	19	10106767	10106767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10106767C>T	ENST00000264828.3	-	15	1593	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	503	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G503E(1)		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)			TCCCTCCTCTCCTTTCAGACC	0.577000													20	85					0	0	0.001523	0	0
KCNV1	27012	broad.mit.edu	37	8	110984918	110984918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110984918C>T	ENST00000524391.1	-	3	1592	c.560G>A	c.(559-561)gGa>gAa	p.G187E	KCNV1_ENST00000297404.1_Missense_Mutation_p.G187E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGACAAGGTCCTTGGGAGAA	0.473000													29	55					0	0	0.001061	0	0
COL5A3	50509	broad.mit.edu	37	19	10081684	10081684	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10081684C>T	ENST00000264828.3	-	53	3934	c.3849G>A	c.(3847-3849)ggG>ggA	p.G1283G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1283	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)			CTCCCTTCTCCCCTGGGGAAC	0.587000													10	34					0	0	0.001368	0	0
ARID2	196528	broad.mit.edu	37	12	46246331	46246331	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:46246331C>T	ENST00000334344.6	+	15	4597	c.4425C>T	c.(4423-4425)acC>acT	p.T1475T	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.T1085T|ARID2_ENST00000422737.1_Silent_p.T1326T|ARID2_ENST00000457135.1_Silent_p.T83T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1475					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTCTACAACCTCTGTTATAC	0.443000			"""N, S, F"""		hepatocellular carcinoma								20	46					0	0	0.001523	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375207	65375207	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:65375207G>A	ENST00000309100.3	-	4	1635	c.1150C>T	c.(1150-1152)Cta>Tta	p.L384L	MAP3K11_ENST00000530153.1_Silent_p.L127L	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	384					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						ATTTCCCGTAGGACCTGTGCC	0.657000													11	21					0	0	0.000978	0	0
RALGDS	5900	broad.mit.edu	37	9	135984181	135984181	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:135984181G>A	ENST00000393160.3	-	5	845	c.492C>T	c.(490-492)ccC>ccT	p.P164P	RALGDS_ENST00000542690.1_Silent_p.P290P|RALGDS_ENST00000372047.3_Silent_p.P207P|RALGDS_ENST00000372062.3_Silent_p.P190P|RALGDS_ENST00000393157.3_Silent_p.P218P|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Silent_p.P219P	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	219	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTTGAGGCAGGGAAAGTCCG	0.632000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								9	19					0	0	0.000673	0	0
PSG7	5676	broad.mit.edu	37	19	43428899	43428899	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43428899G>A	ENST00000406070.2	-	0	1417					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ttctggaacagagtgggtctt	0.418000													14	46					0	0	0.004007	0	0
NLRP3	114548	broad.mit.edu	37	1	247588301	247588301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247588301G>A	ENST00000366497.2	+	4	2336	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	NLRP3_ENST00000391828.3_Missense_Mutation_p.S519N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S519N|NLRP3_ENST00000391827.2_Missense_Mutation_p.S519N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S519N|NLRP3_ENST00000336119.3_Missense_Mutation_p.S519N|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	519	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGTTCTACAGCTTCATCCAC	0.507000													26	14					0	0	0.001271	0	0
NR2E3	10002	broad.mit.edu	37	15	72109899	72109899	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:72109899G>A	ENST00000563709.1	+	0	99																											TCAGGTTTGGGAAATTGCTCC	0.552000													47	62					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197407739	197407739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197407739G>A	ENST00000367397.1	+	6	2813	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	CRB1_ENST00000367399.2_Missense_Mutation_p.G1159E|CRB1_ENST00000367400.3_Missense_Mutation_p.G1271E|CRB1_ENST00000535699.1_Missense_Mutation_p.G1247E|CRB1_ENST00000544212.1_Missense_Mutation_p.G752E|CRB1_ENST00000538660.1_Missense_Mutation_p.G735E|RP11-75C23.1_ENST00000422250.1_RNA			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1271	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCTACAATGGAGGCAACTGC	0.443000													35	34					0	0	0.003271	0	0
DUSP19	142679	broad.mit.edu	37	2	183960158	183960158	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:183960158G>A	ENST00000354221.4	+	4	601		c.e4-1		AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000469344.1_Splice_Site|DUSP19_ENST00000342619.6_Splice_Site|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19						JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTTTTTGTAGGATGGAGTGG	0.318000													44	27					0	0	0.002852	0	0
C19orf45	374877	broad.mit.edu	37	19	7573214	7573214	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7573214G>A	ENST00000361664.2	+	9	1557	c.1416G>A	c.(1414-1416)gaG>gaA	p.E472E	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	472										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ATCCTCAGGAGGGCTTCGTGC	0.602000													15	16					0	0	0.004007	0	0
ELMO1	9844	broad.mit.edu	37	7	37382279	37382279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:37382279C>T	ENST00000310758.4	-	2	663	c.16G>A	c.(16-18)Gac>Aac	p.D6N	ELMO1_ENST00000448602.1_Missense_Mutation_p.D6N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D6N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	6					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						TTGACGATGTCCGCGGGTGGC	0.498000													32	98					0	0	0.002096	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118385531	118385531	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:118385531C>T	ENST00000537242.1	+	0	305				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCTTCATCATCCATGGCTTCT	0.507000													5	17					0	0	0.000602	0	0
BRINP1	1620	broad.mit.edu	37	9	121929706	121929706	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:121929706A>G	ENST00000265922.3	-	8	2403	c.1942T>C	c.(1942-1944)Ttc>Ctc	p.F648L	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		648					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTGATGTAGAACTGCCTCTTG	0.577000													53	60					0	0	0.003610	0	0
EYA4	2070	broad.mit.edu	37	6	133789847	133789847	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:133789847C>T	ENST00000367895.5	+	11	1412	c.948C>T	c.(946-948)ctC>ctT	p.L316L	EYA4_ENST00000355167.3_Silent_p.L316L|EYA4_ENST00000431403.2_Silent_p.L316L|EYA4_ENST00000355286.6_Silent_p.L293L|EYA4_ENST00000452339.2_Silent_p.L262L|EYA4_ENST00000430974.2_Silent_p.L262L|EYA4_ENST00000525849.1_Silent_p.L293L|EYA4_ENST00000531901.1_Silent_p.L316L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	316					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGGAATCTCTCCCAGGACTGA	0.408000													46	48					0	0	0.003610	0	0
MARCH2	51257	broad.mit.edu	37	19	8495677	8495677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:8495677C>T	ENST00000602117.1	+	4	963	c.508C>T	c.(508-510)Cac>Tac	p.H170Y	MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.H170Y|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.H170Y			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	170					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCTCCGGCTCCACAGCCAGCT	0.632000													15	10					0	0	0.002450	0	0
OR10P1	121130	broad.mit.edu	37	12	56030906	56030906	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:56030906C>T	ENST00000309675.2	+	1	263	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I77I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCACTGACATCGTGCCCAGGA	0.592000													26	10					0	0	0.003954	0	0
TAAR9	134860	broad.mit.edu	37	6	132859486	132859486	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:132859486G>A	ENST00000434551.1	+	0	58					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GAACGTGAACGAATCCTGCAT	0.458000													12	14					0	0	0.004007	0	0
COG5	10466	broad.mit.edu	37	7	106964934	106964934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:106964934C>T	ENST00000393603.2	-	11	1423	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*	COG5_ENST00000347053.3_Nonsense_Mutation_p.W384*|COG5_ENST00000297135.3_Nonsense_Mutation_p.W384*	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	384					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TAACTGAATTCCAAAATGTGT	0.254000													47	45					0	0	0.003610	0	0
TPH2	121278	broad.mit.edu	37	12	72338091	72338091	+	Missense_Mutation	SNP	G	G	A	rs146967917	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72338091G>A	ENST00000333850.3	+	3	414	c.273G>A	c.(271-273)atG>atA	p.M91I	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	91	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTGTCAACATGGTTCATATTG	0.408000													25	12					0	0	0.001061	0	0
FSIP1	161835	broad.mit.edu	37	15	39910064	39910064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:39910064G>A	ENST00000350221.3	-	11	1780	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	524										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAGAGTCTTCGACATAAAATA	0.398000													17	57					0	0	0.000958	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056726	120056726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120056726G>A	ENST00000235547.6	+	4	725	c.586G>A	c.(586-588)Gga>Aga	p.G196R	HSD3B1_ENST00000528909.1_Missense_Mutation_p.G194R|HSD3B1_ENST00000369413.3_Missense_Mutation_p.G194R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	194					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTATGGGGAAGGAAGCCGATT	0.498000													27	1164					0	0	0.002299	0	0
TLR8	51311	broad.mit.edu	37	X	12939916	12939916	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:12939916G>A	ENST00000218032.6	+	2	2844	c.2757G>A	c.(2755-2757)gaG>gaA	p.E919E	TLR8_ENST00000311912.5_Silent_p.E937E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	919	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTCTAGAGGAGAGGGATTGGG	0.438000													47	1					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128481303	128481303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:128481303G>A	ENST00000325888.8	+	12	2154	c.1893G>A	c.(1891-1893)tgG>tgA	p.W631*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.W631*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	631					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						TGCGGTACTGGCCCACGGAGC	0.627000													44	43					0	0	0.003610	0	0
VRTN	55237	broad.mit.edu	37	14	74825503	74825503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:74825503G>A	ENST00000256362.4	+	2	2258	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	673					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTCCTACAAGGAGTTCAGTGC	0.567000													29	19					0	0	0.001786	0	0
MAGI1	9223	broad.mit.edu	37	3	65479288	65479288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:65479288C>T	ENST00000330909.8	-	3	448	c.449G>A	c.(448-450)aGa>aAa	p.R150K	MAGI1_ENST00000483466.1_Missense_Mutation_p.R150K|MAGI1_ENST00000497477.2_Missense_Mutation_p.R150K|MAGI1_ENST00000402939.2_Missense_Mutation_p.R150K|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	150	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCTCCTTCTCTGGGAGATCG	0.458000													16	17					0	0	0.006122	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667684	70667684	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:70667684C>T	ENST00000260126.3	-	4	1939	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S	SLCO5A1_ENST00000530307.1_Silent_p.S411S|SLCO5A1_ENST00000524945.1_Silent_p.S411S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	411						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAAATCCCATCGAAGAAACTT	0.383000													7	47					0	0	0.000443	0	0
KEL	3792	broad.mit.edu	37	7	142640048	142640048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:142640048G>A	ENST00000355265.2	-	17	2329	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	619					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTAGGTAATGGAAAGGCAGCA	0.547000													33	37					0	0	0.003755	0	0
TPST1	8460	broad.mit.edu	37	7	65706081	65706081	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:65706081T>A	ENST00000304842.5	+	2	1094	c.669T>A	c.(667-669)taT>taA	p.Y223*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	223					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGACCATGTATAACCAGTGTA	0.383000													16	22					0	0	0.003163	0	0
ACTR1B	10120	broad.mit.edu	37	2	98273645	98273645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:98273645G>A	ENST00000289228.5	-	10	1214	c.998C>T	c.(997-999)cCg>cTg	p.P333L		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	333						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCGTTCCTGCGGGGCTGAGAT	0.607000													7	12					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179574513	179574513	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179574513G>A	ENST00000589042.1	-	99	28757	c.28533C>T	c.(28531-28533)ttC>ttT	p.F9511F	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.F9194F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F8267F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9194							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)			CCTCAAGTTTGAAAGAATTCC	0.383000													26	59					0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	2832092	2832092	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:2832092A>C	ENST00000520002.1	-	57	9179	c.8624T>G	c.(8623-8625)cTg>cGg	p.L2875R	CSMD1_ENST00000400186.3_Missense_Mutation_p.L2817R|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2817R|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2875R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2816R|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2874R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2875	Sushi 21.					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)		ATAGGTAAACAGCTCTCCAGT	0.537000													4	11					0	0	0.000248	0	0
ADRB1	153	broad.mit.edu	37	10	115804274	115804274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:115804274C>T	ENST00000369295.2	+	1	469	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	128					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GAGTACGGCTCCTTCTTCTGC	0.652000													25	34					0	0	0.001512	0	0
ZNF862	643641	broad.mit.edu	37	7	149558500	149558500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:149558500C>T	ENST00000223210.4	+	7	2496	c.2251C>T	c.(2251-2253)Cgc>Tgc	p.R751C		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R751C(1)		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						CCGGCACATCCGCACCGTCTT	0.607000													21	24					0	0	0.001523	0	0
NPEPL1	79716	broad.mit.edu	37	20	57274285	57274285	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:57274285C>T	ENST00000356091.6	+	5	918	c.630C>T	c.(628-630)atC>atT	p.I210I	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.I162I|NPEPL1_ENST00000525967.1_Silent_p.I182I	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	210					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AGCTGGGGATCATCCCAACCA	0.542000													4	5					0	0	0.000602	0	0
ABCA12	26154	broad.mit.edu	37	2	215840723	215840723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:215840723C>T	ENST00000272895.7	-	34	5386	c.5167G>A	c.(5167-5169)Gga>Aga	p.G1723R	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1405R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1723					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAACAGTCCAAAGCCATCC	0.433000													16	16					0	0	0.004007	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269849	150269849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150269849G>A	ENST00000255945.2	+	3	866	c.691G>A	c.(691-693)Gag>Aag	p.E231K	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.E245K	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	231							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGGCGGAGGAGGAGATCCA	0.537000													14	18					0	0	0.002450	0	0
GNAO1	2775	broad.mit.edu	37	16	56370700	56370700	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:56370700G>A	ENST00000262494.7	+	6	911	c.651G>A	c.(649-651)gaG>gaA	p.E217E	GNAO1_ENST00000262493.6_Silent_p.E217E	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	217					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ATTGCTTCGAGGACGTCACGG	0.627000													6	10					0	0	0.001168	0	0
RSF1	51773	broad.mit.edu	37	11	77411805	77411805	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:77411805C>T	ENST00000308488.6	-	6	2771	c.2469G>A	c.(2467-2469)ttG>ttA	p.L823L	RSF1_ENST00000480887.1_Silent_p.L571L|RSF1_ENST00000360355.2_Silent_p.L792L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	823					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTGATTTTTTCAAAATTTCCT	0.299000													44	81					0	0	0.003610	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672638	141672638	+	Silent	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:141672638C>A	ENST00000547270.1	-	1	935	c.852G>T	c.(850-852)ggG>ggT	p.G284G		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	284					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTGCCATTATCCCAACACAAA	0.512000													25	46					1.39806e-14	2.42126e-14	0.001512	1	0
GTF3C3	9330	broad.mit.edu	37	2	197650231	197650231	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:197650231G>A	ENST00000263956.3	-	7	1064	c.975C>T	c.(973-975)tcC>tcT	p.S325S	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Silent_p.S325S	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	325						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATCTTCCATGGAGACTAGGC	0.348000													21	14					0	0	0.001523	0	0
ALPL	249	broad.mit.edu	37	1	21889719	21889719	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:21889719G>A	ENST00000374840.3	+	5	664	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ALPL_ENST00000374832.1_Silent_p.R138R|ALPL_ENST00000425315.2_Silent_p.R138R|ALPL_ENST00000539907.1_Silent_p.R61R|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_Silent_p.R83R	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	138					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGCGTTCCCGGTGCAACACCA	0.687000													4	22					0	0	0.000248	0	0
PROL1	58503	broad.mit.edu	37	4	71265005	71265005	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:71265005G>A	ENST00000399575.2	+	2	177	c.3G>A	c.(1-3)atG>atA	p.M1I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	1					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTAAAGAATGAAATTAACTT	0.299000													15	39					0	0	0.000958	0	0
SMOC2	64094	broad.mit.edu	37	6	168927051	168927051	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:168927051G>A	ENST00000354536.5	+	3	502	c.282G>A	c.(280-282)agG>agA	p.R94R	SMOC2_ENST00000356284.2_Silent_p.R94R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	94	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGGCCGAAAGGAAGTATACCC	0.507000													14	18					0	0	0.006122	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540473	94540473	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:94540473A>G	ENST00000289495.5	+	1	1264	c.1048A>G	c.(1048-1050)Aat>Gat	p.N350D	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.N350D|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.N350D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.N350D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.N350D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.N350D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	350						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)			TGCTGAAGCTAATTTGGTTGG	0.458000										HNSCC(28;0.073)			20	30					0	0	0.001216	0	0
IL17RD	54756	broad.mit.edu	37	3	57131840	57131840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:57131840C>T	ENST00000296318.7	-	12	1979	c.1891G>A	c.(1891-1893)Ggg>Agg	p.G631R	IL17RD_ENST00000320057.5_Missense_Mutation_p.G487R|IL17RD_ENST00000427856.2_Missense_Mutation_p.G607R|IL17RD_ENST00000463523.1_Missense_Mutation_p.G487R	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	631						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGGGCCTCCCCGTCTTGGTCC	0.667000													4	17					0	0	0.000248	0	0
CDH1	999	broad.mit.edu	37	16	68835619	68835619	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:68835619C>T	ENST00000261769.5	+	3	401	c.210C>T	c.(208-210)tcC>tcT	p.S70S	CDH1_ENST00000422392.2_Silent_p.S70S|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	70				SL -> P (in Ref. 3; AAA61259).	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	p.?(2)		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)		CCTATTTTTCCCTCGACACCC	0.463000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				23	69					0	0	0.003330	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879496	144879496	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:144879496G>A	ENST00000369359.4	-	30	4400	c.4362C>T	c.(4360-4362)cgC>cgT	p.R1454R	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.R1454R|PDE4DIP_ENST00000369356.4_Silent_p.R1318R|PDE4DIP_ENST00000369354.3_Silent_p.R1318R|PDE4DIP_ENST00000313382.9_Silent_p.R1274R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1318				K -> E (in Ref. 4; CAH18128).	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)		TTGAGCCCCGGCGTCCCTGCT	0.502000			T	PDGFRB	MPD								543	106					0	0	0.003610	0	0
IL17RA	23765	broad.mit.edu	37	22	17581300	17581300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:17581300C>T	ENST00000319363.6	+	5	612	c.479C>T	c.(478-480)aCc>aTc	p.T160I	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	160					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TATGAGGTGACCGTTCACCAC	0.532000													27	74					0	0	0.004656	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54974740	54974740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54974740C>T	ENST00000547431.1	-	4	305	c.278G>A	c.(277-279)aGg>aAg	p.R93K	PPP1R1A_ENST00000257905.8_Silent_p.K166K			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	94					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						AGTTGGCTCCCTTGGAATCCA	0.512000													45	103					0	0	0.003214	0	0
HPS6	79803	broad.mit.edu	37	10	103827536	103827536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:103827536C>T	ENST00000299238.5	+	1	2390	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	769						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CACTCCACCCCCGACTCCACC	0.597000									Hermansky-Pudlak syndrome				18	20					0	0	0.001523	0	0
PEX5L	51555	broad.mit.edu	37	3	179537748	179537748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:179537748C>T	ENST00000467460.1	-	9	1169	c.839G>A	c.(838-840)tGg>tAg	p.W280*	PEX5L_ENST00000263962.8_Nonsense_Mutation_p.W278*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.W172*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.W221*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.W245*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.W237*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.W88*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.W256*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.W172*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	280					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CATCTTATCCCAAAACTCTGT	0.433000													12	50					0	0	0.001855	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921864	17921864	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:17921864C>A	ENST00000474627.3	-	8	1023	c.869G>T	c.(868-870)tGa>tTa	p.*290L	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	0					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCCCAGGCCTCACTCCTTCAG	0.647000													14	48					7.05477e-17	1.22447e-16	0.004990	1	0
CYLC1	1538	broad.mit.edu	37	X	83129107	83129107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:83129107G>A	ENST00000329312.4	+	4	1428	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	464					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAAGAAGGGGAAGAAAGAT	0.348000													3	3					0	0	0.004672	0	0
C11orf30	56946	broad.mit.edu	37	11	76234319	76234319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:76234319C>T	ENST00000529032.1	+	11	1805	c.1805C>T	c.(1804-1806)aCg>aTg	p.T602M	C11orf30_ENST00000525038.1_Missense_Mutation_p.T617M|C11orf30_ENST00000334736.3_Missense_Mutation_p.T602M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T603M|C11orf30_ENST00000343878.3_Missense_Mutation_p.T602M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T518M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T617M|C11orf30_ENST00000533248.1_Missense_Mutation_p.T616M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	602	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTTGTCACAACGTTGCTAAAT	0.423000													39	16					0	0	0.001287	0	0
ZNF679	168417	broad.mit.edu	37	7	63720599	63720599	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:63720599G>A	ENST00000421025.1	+	3	309	c.39_splice	c.e3-1	p.G14_splice	ZNF679_ENST00000255746.4_Splice_Site_p.G14_splice	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTTTTTCAGGGACTGTTGAC	0.383000													12	33					0	0	0.000978	0	0
CDH11	1009	broad.mit.edu	37	16	65016088	65016088	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:65016088G>A	ENST00000394156.3	-	8	1569	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CDH11_ENST00000566827.1_Silent_p.I246I|CDH11_ENST00000268603.4_Silent_p.I372I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCTACTGAGATCTTGACGG	0.517000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			43	55					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216270453	216270453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:216270453C>T	ENST00000366943.2	-	22	5116	c.4730G>A	c.(4729-4731)gGa>gAa	p.G1577E	USH2A_ENST00000307340.3_Missense_Mutation_p.G1577E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1577	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAAAGACGTCCCTTCTTCAA	0.368000										HNSCC(13;0.011)			14	26					0	0	0.002450	0	0
VGLL2	245806	broad.mit.edu	37	6	117589584	117589584	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117589584G>A	ENST00000326274.5	+	2	511	c.321G>A	c.(319-321)ctG>ctA	p.L107L	VGLL2_ENST00000352536.3_Silent_p.L107L	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	107					transcription, DNA-dependent	nucleus		p.L107L(1)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGGGCCCTGAGCCAACCCA	0.597000													12	13					0	0	0.000978	0	0
WNT5A	7474	broad.mit.edu	37	3	55504313	55504313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:55504313G>A	ENST00000474267.1	-	6	1471	c.950C>T	c.(949-951)tCg>tTg	p.S317L	WNT5A_ENST00000497027.1_Missense_Mutation_p.S302L|WNT5A_ENST00000264634.4_Missense_Mutation_p.S317L			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	317					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGTGCCCAGCGAGCCGGTGCT	0.627000													26	20					0	0	0.001061	0	0
RBMX	27316	broad.mit.edu	37	X	135957687	135957687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135957687G>A	ENST00000562646.1	-	6	753	c.599C>T	c.(598-600)cCc>cTc	p.P200L	RBMX_ENST00000565438.1_Missense_Mutation_p.P72L|RBMX_ENST00000320676.7_Missense_Mutation_p.P200L|RBMX_ENST00000431446.3_Missense_Mutation_p.P92S|RBMX_ENST00000570135.1_Missense_Mutation_p.P65L			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	200						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCTACGAGAGGGCAGCGGTTC	0.373000													48	0					0	0	0.003610	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604486	15604486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:15604486C>T	ENST00000464847.2	+	2	611	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	ZNF286A_ENST00000472486.1_Missense_Mutation_p.P10S|ZNF286A_ENST00000395894.2_Missense_Mutation_p.P20S|ZNF286A_ENST00000421016.1_Missense_Mutation_p.P20S|ZNF286A_ENST00000583566.1_Missense_Mutation_p.P20S|ZNF286A_ENST00000395893.2_Missense_Mutation_p.P20S|ZNF286A_ENST00000580259.1_Missense_Mutation_p.P20S|ZNF286A_ENST00000593105.1_Missense_Mutation_p.P10S|ZNF286A_ENST00000585194.1_Missense_Mutation_p.P20S|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000581529.1_Missense_Mutation_p.P10S|ZNF286A_ENST00000413242.2_Missense_Mutation_p.P20S			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	20					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)		CCAGGATTCTCCCCATTTCCA	0.473000													60	183					0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	32089224	32089224	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:32089224C>T	ENST00000438447.1	+	20	6058	c.5670C>T	c.(5668-5670)ctC>ctT	p.L1890L	PDZD2_ENST00000282493.3_Silent_p.L1890L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1890					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						GGCTCAGCCTCAAGGGCAAGG	0.552000													28	14					0	0	0.005443	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677314	3677314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3677314G>A	ENST00000344754.4	-	10	2601	c.2602C>T	c.(2602-2604)Ctt>Ttt	p.L868F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L868F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	868	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGTCCCCAAGGCCCAGTTCT	0.582000													16	32					0	0	0.001216	0	0
SYT2	127833	broad.mit.edu	37	1	202571506	202571506	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:202571506C>T	ENST00000367267.1	-	5	825	c.633_splice	c.e5+1	p.K211_splice	SYT2_ENST00000367268.4_Splice_Site_p.K211_splice	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	211	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCCTCAGCACCTTGAAGGTGA	0.507000													51	57					0	0	0.003610	0	0
MCM2	4171	broad.mit.edu	37	3	127325561	127325561	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:127325561C>T	ENST00000265056.7	+	6	1246	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	334					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|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.F334F(1)		ovary(3)|skin(2)|stomach(1)	6						AGTGCAATTTCGTCCTGGGTC	0.592000													42	31					0	0	0.003214	0	0
PKP2	5318	broad.mit.edu	37	12	33031882	33031882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:33031882G>A	ENST00000340811.4	-	2	416	c.308C>T	c.(307-309)cCt>cTt	p.P103L	PKP2_ENST00000070846.6_Missense_Mutation_p.P103L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	103					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTTAGGAACAGGGGAACGGCC	0.383000													18	51					0	0	0.001523	0	0
ADNP2	22850	broad.mit.edu	37	18	77893615	77893615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:77893615C>T	ENST00000262198.4	+	4	774	c.319C>T	c.(319-321)Cct>Tct	p.P107S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	107					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)		GCTGGTGATCCCTTGCCCAAA	0.438000													18	50					0	0	0.002299	0	0
PLK2	10769	broad.mit.edu	37	5	57753146	57753146	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:57753146C>T	ENST00000274289.3	-	7	1170	c.870G>A	c.(868-870)agG>agA	p.R290R	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	290	Protein kinase.				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)		CCCTTATGCACCTATAAGTTT	0.428000													9	16					0	0	0.000443	0	0
USP5	8078	broad.mit.edu	37	12	6968686	6968686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:6968686C>T	ENST00000229268.8	+	9	1163	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	USP5_ENST00000389231.5_Nonsense_Mutation_p.Q371*	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	371					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGACCCTACCCAGGATTTCAG	0.562000													16	17					0	0	0.000958	0	0
GPR158	57512	broad.mit.edu	37	10	25464474	25464474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:25464474G>A	ENST00000376351.3	+	1	484	c.125G>A	c.(124-126)gGg>gAg	p.G42E	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	42						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						ACCCCGAAGGGGAAGCCGCAC	0.692000													9	18					0	0	0.004482	0	0
ZNF512	84450	broad.mit.edu	37	2	27830716	27830716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:27830716C>T	ENST00000355467.4	+	10	1024	c.941C>T	c.(940-942)tCc>tTc	p.S314F	ZNF512_ENST00000379717.1_Missense_Mutation_p.S313F|ZNF512_ENST00000556601.1_Missense_Mutation_p.S183F|ZNF512_ENST00000416005.2_Missense_Mutation_p.S285F|ZNF512_ENST00000413371.2_Missense_Mutation_p.S237F|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TTGCAGATATCCTTCTTTCCA	0.468000													11	17					0	0	0.002450	0	0
OR6C1	390321	broad.mit.edu	37	12	55715295	55715295	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55715295G>A	ENST00000379668.2	+	1	950	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R304R(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACATGGCAAGGAAGACTGTAT	0.388000													13	35					0	0	0.004007	0	0
ARSE	415	broad.mit.edu	37	X	2853178	2853178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:2853178C>T	ENST00000545496.1	-	12	1831	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	ARSE_ENST00000381134.3_Missense_Mutation_p.A489T|ARSE_ENST00000540563.1_Missense_Mutation_p.A444T			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	489					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				CAGGCACCGGCTCCCTCTGGC	0.502000													5	4					0	0	0.001168	0	0
HECW1	23072	broad.mit.edu	37	7	43484077	43484077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:43484077G>T	ENST00000395891.1	+	11	1911	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E436*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	436					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGTGGGACCTGAAGGGGCTGG	0.622000													6	5					0.00198382	0.00338838	0.001984	1	0
FARSB	10056	broad.mit.edu	37	2	223484389	223484389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:223484389C>T	ENST00000281828.6	-	14	1582	c.1319G>A	c.(1318-1320)aGt>aAt	p.S440N	FARSB_ENST00000536361.1_Missense_Mutation_p.S341N	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	440					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)	TTTAGGATTACTTATGTGGAC	0.363000													5	25					0	0	0.001984	0	0
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:183887886C>T	ENST00000313143.3	+	14	1839	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	DVL3_ENST00000431765.1_Missense_Mutation_p.P514S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	531					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)			GGGGGCCGCCCCTTGGCCCAT	0.682000													6	21					0	0	0.001168	0	0
LACRT	90070	broad.mit.edu	37	12	55025624	55025624	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55025624C>G	ENST00000257867.4	-	4	307		c.e4-1		LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin						calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ACTATGGATTCTAATTTTGGA	0.478000													26	45					0	0	0.004656	0	0
FERMT3	83706	broad.mit.edu	37	11	63987457	63987457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:63987457G>A	ENST00000279227.5	+	10	1281	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	FERMT3_ENST00000345728.5_Missense_Mutation_p.G392R	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	396	FERM.|PH.				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						CGAGGCCCCTGGGGACCCCAT	0.622000													6	12					0	0	0.003080	0	0
RIN1	9610	broad.mit.edu	37	11	66102660	66102660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66102660G>A	ENST00000311320.4	-	6	736	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	RIN1_ENST00000530056.1_Missense_Mutation_p.P99S|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.P99S	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	204					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TTCAGCTGGGGCAACACTGGG	0.662000													6	14					0	0	0.001168	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458075	120458075	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120458075G>T	ENST00000256646.2	-	34	7489	c.7270C>A	c.(7270-7272)Cag>Aag	p.Q2424K		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2424					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGACCACTGGTCAGGAGAC	0.592000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				34	4236					0.000151284	0.000259738	0.001855	1	0
HEPHL1	341208	broad.mit.edu	37	11	93778858	93778858	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:93778858G>C	ENST00000315765.9	+	2	198	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	64	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTTATTTCTCGAAAGAGGGCC	0.388000													6	0					0	0	0.001168	0	0
FMN2	56776	broad.mit.edu	37	1	240370439	240370439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:240370439G>A	ENST00000319653.9	+	5	2557	c.2327G>A	c.(2326-2328)gGa>gAa	p.G776E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	776	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)			GCTGAAAGTGGACCTCAGACA	0.572000													7	41					0	0	0.004482	0	0
CDHR2	54825	broad.mit.edu	37	5	176011610	176011610	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:176011610G>A	ENST00000510636.1	+	19	2602	c.2328G>A	c.(2326-2328)ttG>ttA	p.L776L	CDHR2_ENST00000506348.1_Silent_p.L776L|CDHR2_ENST00000261944.5_Silent_p.L776L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	776	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTTCAACTTGACAGTGAGTG	0.612000													21	12					0	0	0.001523	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235904	23235904	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:23235904G>A	ENST00000532223.1	+	2	508	c.234G>A	c.(232-234)caG>caA	p.Q78Q	IGLL5_ENST00000531372.1_Intron|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000526893.1_Silent_p.Q77Q			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	77						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAGCCCCCAGAGAGCAGACC	0.652000													6	5					0	0	0.003080	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139535	125139535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:125139535G>A	ENST00000368417.1	+	6	598	c.538G>A	c.(538-540)Gat>Aat	p.D180N	NKAIN2_ENST00000546092.1_Missense_Mutation_p.D113N|NKAIN2_ENST00000545433.1_Missense_Mutation_p.D165N	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	180						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTTTTCAGTTGATTTCATAGG	0.348000													10	41					0	0	0.001368	0	0
CTSC	1075	broad.mit.edu	37	11	88033707	88033707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:88033707G>A	ENST00000227266.5	-	5	862	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	250					immune response	lysosome	cysteine-type endopeptidase activity	p.R250*(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTGGTTTCGAACAGGACTG	0.373000													18	19					0	0	0.001523	0	0
HID1	283987	broad.mit.edu	37	17	72952020	72952020	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72952020C>T	ENST00000425042.2	-	13	1580	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V		NM_030630.2	NP_085133.1			HID1 domain containing																		TGTTGGCAGTCACCATGGACA	0.627000													31	62					0	0	0.003271	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136405	40136405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:40136405G>A	ENST00000278198.2	-	2	3401	c.1438C>T	c.(1438-1440)Cca>Tca	p.P480S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P480S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P480S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P480S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	480					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)				TCGACCACTGGAGTGGGACCC	0.498000													15	10					0	0	0.003163	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282946	107282946	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:107282946C>T	ENST00000390639.2	-	0	250																											CCATCCCATCCACTCAAGCCC	0.552000													29	50					0	0	0.001786	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477210	110477210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110477210G>A	ENST00000378402.5	+	49	8253	c.8149G>A	c.(8149-8151)Gga>Aga	p.G2717R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2717					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)			TGATGAACTGGGAATGGGGTC	0.473000										HNSCC(38;0.096)			18	74					0	0	0.001523	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299259	186299259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:186299259C>T	ENST00000439351.1	+	6	1485	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	DNAJB11_ENST00000265028.3_Nonsense_Mutation_p.Q186*			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	186					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGGCGCTTCCAAATGACCCA	0.507000													35	38					0	0	0.005524	0	0
DSG3	1830	broad.mit.edu	37	18	29044212	29044212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:29044212G>A	ENST00000257189.4	+	9	1221	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	380	Cadherin 3.				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)			TGTAAGAGAAGGAATTGCATT	0.388000													14	28					0	0	0.002450	0	0
HMCN1	83872	broad.mit.edu	37	1	186105887	186105887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:186105887C>T	ENST00000271588.4	+	87	13629	c.13400C>T	c.(13399-13401)cCt>cTt	p.P4467L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4467L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4467	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGAGAGCCTCAACCAACC	0.443000													10	42					0	0	0.000673	0	0
SEC31B	25956	broad.mit.edu	37	10	102255225	102255225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:102255225G>A	ENST00000370345.3	-	19	2486	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	797					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)		CGGGGGAAGGGGAAAGGGGGA	0.493000													16	19					0	0	0.006122	0	0
GPR113	165082	broad.mit.edu	37	2	26534181	26534181	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:26534181G>A	ENST00000333478.6	-	8	2400	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S	GPR113_ENST00000541401.1_Silent_p.S408S|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.S736S|GPR113_ENST00000311519.1_Silent_p.S805S	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	805					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)					GGCGGAAATAGGAGATCTTGT	0.612000													4	11					0	0	0.000602	0	0
SPTB	6710	broad.mit.edu	37	14	65266488	65266488	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:65266488G>A	ENST00000389722.3	-	8	1094	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	SPTB_ENST00000389720.3_Silent_p.Y347Y|SPTB_ENST00000389721.5_Silent_p.Y347Y|SPTB_ENST00000542895.1_Silent_p.Y347Y|SPTB_ENST00000556626.1_Silent_p.Y347Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	347					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCACGGTGCGGTAGGTGCTGA	0.612000													6	22					0	0	0.001984	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:187698678G>A	ENST00000295131.2	-	6	862	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding	p.R275C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000													9	21					0	0	0.000443	0	0
MTBP	27085	broad.mit.edu	37	8	121519043	121519043	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:121519043T>C	ENST00000305949.1	+	16	1870	c.1825T>C	c.(1825-1827)Tac>Cac	p.Y609H		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	609	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTGCTGAAGTACTTTACCTC	0.388000													19	21					0	0	0.001882	0	0
OR2W3	343171	broad.mit.edu	37	1	248059200	248059200	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:248059200C>T	ENST00000537741.1	+	3	569	c.312C>T	c.(310-312)ttC>ttT	p.F104F	OR2W3_ENST00000360358.3_Silent_p.F104F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTTCCTGTTCCTGGGTCTGG	0.552000													11	52					0	0	0.000673	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086964	39086964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:39086964C>T	ENST00000400482.3	-	3	1085	c.496G>A	c.(496-498)Gag>Aag	p.E166K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E166K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	166					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)	ATAATTCCCTCTGGGCATTTA	0.423000													29	41					0	0	0.002096	0	0
ANO4	121601	broad.mit.edu	37	12	101381342	101381342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:101381342C>T	ENST00000392979.3	+	7	884	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R210W	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	210						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAGCAGGTTTCGGAGATGGTT	0.507000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	142					0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41542162	41542162	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:41542162G>A	ENST00000396942.1	-	37	4520	c.4437C>T	c.(4435-4437)atC>atT	p.I1479I	ANK1_ENST00000289734.7_Silent_p.I1479I|ANK1_ENST00000352337.4_Silent_p.I1479I|ANK1_ENST00000379758.2_Silent_p.I1479I|ANK1_ENST00000265709.8_Silent_p.I1520I|ANK1_ENST00000396945.1_Silent_p.I1479I|ANK1_ENST00000347528.4_Silent_p.I1479I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1479	55 kDa regulatory domain.|Death.				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)			GCATGTTCACGATCTCGCCAC	0.602000													20	18					0	0	0.002780	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:54307284C>T	ENST00000324134.6	-	6	2675	c.2507G>A	c.(2506-2508)gGa>gAa	p.G836E	NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000													10	24					0	0	0.000443	0	0
MUC16	94025	broad.mit.edu	37	19	9085683	9085683	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9085683C>T	ENST00000397910.4	-	1	6335	c.6132G>A	c.(6130-6132)agG>agA	p.R2044R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2044	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						TTGCATTCCTCCTACTGATTG	0.488000													52	60					0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70332684	70332684	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:70332684G>A	ENST00000338508.4	-	32	3716	c.3717C>T	c.(3715-3717)gcC>gcT	p.A1239A	SHANK2_ENST00000409161.1_Silent_p.A642A|SHANK2_ENST00000449833.2_Silent_p.A643A|SHANK2_ENST00000423696.2_Silent_p.A859A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	859					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCCTTGGGGGCCTCCCCTT	0.627000													20	26					0	0	0.002299	0	0
FAM120B	84498	broad.mit.edu	37	6	170628184	170628184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:170628184C>T	ENST00000476287.1	+	2	1814	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	FAM120B_ENST00000537664.1_Missense_Mutation_p.T592I|FAM120B_ENST00000540480.1_Missense_Mutation_p.T581I|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	569					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAACAAGTAACCATGGTTTCA	0.388000													21	42					0	0	0.002780	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879495	144879495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:144879495G>A	ENST00000369359.4	-	30	4401	c.4363C>T	c.(4363-4365)Cgg>Tgg	p.R1455W	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1455W|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1319W|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1319W|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1275W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1319					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)		GTTGAGCCCCGGCGTCCCTGC	0.502000			T	PDGFRB	MPD								548	105					0	0	0.003610	0	0
MACF1	23499	broad.mit.edu	37	1	39926444	39926444	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:39926444T>A	ENST00000564288.1	+	92	22278	c.21501T>A	c.(21499-21501)ttT>ttA	p.F7167L	MACF1_ENST00000317713.7_Missense_Mutation_p.F5108L|MACF1_ENST00000539005.1_Missense_Mutation_p.F4978L|MACF1_ENST00000545844.1_Missense_Mutation_p.F5108L|MACF1_ENST00000361689.2_Missense_Mutation_p.F5108L|MACF1_ENST00000289893.4_Missense_Mutation_p.F5610L|MACF1_ENST00000372915.3_Missense_Mutation_p.F7066L|MACF1_ENST00000567887.1_Missense_Mutation_p.F7204L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7066	C-terminal tail (By similarity).|GAR.				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)			GTCAGGAGTTTATCGATGGCA	0.423000													70	29					0	0	0.003610	0	0
COL24A1	255631	broad.mit.edu	37	1	86200455	86200455	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:86200455T>A	ENST00000370571.2	-	59	5341	c.4975A>T	c.(4975-4977)Aaa>Taa	p.K1659*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.K1638*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1659	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAAGCACTTTAGGTTCAAGT	0.363000													26	65					0	0	0.001271	0	0
PTPRS	5802	broad.mit.edu	37	19	5229345	5229345	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:5229345C>T	ENST00000372412.4	-	16	2594	c.2361G>A	c.(2359-2361)acG>acA	p.T787T	PTPRS_ENST00000588012.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000348075.2_Intron|PTPRS_ENST00000587303.1_Silent_p.T786T|PTPRS_ENST00000357368.4_Silent_p.T786T|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Silent_p.T782T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	786	Fibronectin type-III 5.				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)		CCGTGTCATCCGTCTCCCACT	0.662000													4	8					0	0	0.000248	0	0
IPPK	64768	broad.mit.edu	37	9	95400522	95400522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95400522G>A	ENST00000287996.3	-	9	953	c.677C>T	c.(676-678)cCc>cTc	p.P226L		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	226					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GTCAGCCACGGGGCTCCGGGC	0.557000													13	36					0	0	0.002450	0	0
RAB33B	83452	broad.mit.edu	37	4	140375442	140375442	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:140375442C>T	ENST00000305626.5	+	1	482	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	31					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CTGCCCGCTCCCGCATCTTCA	0.627000													10	9					0	0	0.001368	0	0
OR2A25	392138	broad.mit.edu	37	7	143771481	143771481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143771481C>T	ENST00000408898.2	+	1	207	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTCCACACCCCCATGTACTT	0.577000													27	18					0	0	0.001271	0	0
KCNK10	54207	broad.mit.edu	37	14	88652148	88652148	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:88652148T>C	ENST00000340700.5	-	7	1799	c.1348A>G	c.(1348-1350)Acc>Gcc	p.T450A	KCNK10_ENST00000312350.5_Missense_Mutation_p.T455A|KCNK10_ENST00000319231.5_Missense_Mutation_p.T455A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	450					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTCTGGAGGTGGACCCGAAC	0.547000													42	35					0	0	0.001951	0	0
NR5A2	2494	broad.mit.edu	37	1	200080416	200080416	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:200080416G>A	ENST00000367362.3	+	6	1443	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	NR5A2_ENST00000544748.1_Silent_p.K327K|NR5A2_ENST00000236914.3_Silent_p.K353K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	399					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TACATGGAAAGGAAGGATCCA	0.408000													21	25					0	0	0.002299	0	0
ADCY10	55811	broad.mit.edu	37	1	167802365	167802365	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:167802365C>T	ENST00000367848.1	-	25	3674	c.3177G>A	c.(3175-3177)aaG>aaA	p.K1059K	ADCY10_ENST00000545172.1_Silent_p.K998K|ADCY10_ENST00000367851.4_Silent_p.K1151K|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1151					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						TCAGCATTTTCTTGGCAAGCA	0.428000													53	176					0	0	0.003610	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137106	126137106	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:126137106G>A	ENST00000299308.3	+	8	2027	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q	TMEM132B_ENST00000535886.1_Silent_p.Q185Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	673						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)		TCTCCCTGCAGCCACACCGAG	0.607000													21	25					0	0	0.002780	0	0
CPQ	10404	broad.mit.edu	37	8	98155407	98155407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:98155407C>T	ENST00000220763.5	+	8	1625	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	472					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										CTGCCTAGGTCCTAGAAACAG	0.428000													10	54					0	0	0.000673	0	0
MYH7	4625	broad.mit.edu	37	14	23897062	23897062	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23897062G>A	ENST00000355349.3	-	16	1782	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	540	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)		TGGCCTTGGGGAACATGCACT	0.547000													24	27					0	0	0.002780	0	0
FLNC	2318	broad.mit.edu	37	7	128494221	128494221	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:128494221G>A	ENST00000325888.8	+	40	6939	c.6678G>A	c.(6676-6678)ctG>ctA	p.L2226L	FLNC_ENST00000346177.6_Silent_p.L2193L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2226	Intradomain insert.				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						GGGACTTCCTGGGCCGGGAGC	0.711000													6	7					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179453449	179453449	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179453449C>T	ENST00000589042.1	-	304	63227	c.63003G>A	c.(63001-63003)gaG>gaA	p.E21001E	TTN_ENST00000342175.6_Silent_p.E12128E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E19360E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.E11936E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E12061E|TTN_ENST00000342992.6_Silent_p.E18433E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19360							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)			TTTCCTTTTTCTCCAAAAAGT	0.423000													16	34					0	0	0.004990	0	0
OR52I1	390037	broad.mit.edu	37	11	4615299	4615299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4615299G>A	ENST00000450052.2	+	2	103	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	OR52I1_ENST00000530443.2_Missense_Mutation_p.E11K			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACACAATGGAAACCCCTGC	0.468000													66	68					0	0	0.003610	0	0
DDX60	55601	broad.mit.edu	37	4	169142907	169142907	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:169142907G>A	ENST00000393743.3	-	36	5241	c.4950C>T	c.(4948-4950)tcC>tcT	p.S1650S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1650							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)		ATCCTATCAAGGAACCATGTT	0.408000													24	33					0	0	0.001061	0	0
KCNA10	3744	broad.mit.edu	37	1	111060215	111060215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:111060215C>T	ENST00000369771.2	-	1	1582	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	399						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTGGCTCATCCACCTCAGCA	0.537000													16	12					0	0	0.003163	0	0
POTEC	388468	broad.mit.edu	37	18	14543007	14543007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:14543007C>T	ENST00000358970.5	-	1	138	c.139G>A	c.(139-141)Gga>Aga	p.G47R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	47										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTGGTCTCCAGAAGTGCCC	0.577000													23	85					0	0	0.002780	0	0
ZNF676	163223	broad.mit.edu	37	19	22363113	22363113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22363113C>T	ENST00000397121.2	-	3	1723	c.1406G>A	c.(1405-1407)aGa>aAa	p.R469K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTT	0.393000													20	68					0	0	0.001882	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935035	73935035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:73935035C>T	ENST00000370388.3	-	1	140	c.97G>A	c.(97-99)Gag>Aag	p.E33K	KHDC1L_ENST00000471312.1_5'UTR|RP11-257K9.8_ENST00000423730.3_Silent_p.R135R	NM_001126063.2	NP_001119535.1	Q5JSQ8	KHDCL_HUMAN	KH homology domain containing 1-like	33										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						ATGAGCTCCTCCTGGTCCTCT	0.512000													5	11					0	0	0.000602	0	0
RBM15	64783	broad.mit.edu	37	1	110882213	110882213	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110882213G>A	ENST00000369784.3	+	1	1086	c.186G>A	c.(184-186)gaG>gaA	p.E62E	RBM15_ENST00000602849.1_Silent_p.E62E|RBM15_ENST00000487146.2_Silent_p.E62E	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	62	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTGGTGAGGACTCGACTT	0.647000			T	MKL1	acute megakaryocytic leukemia								8	17					0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9083510	9083510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9083510C>T	ENST00000397910.4	-	1	8508	c.8305G>A	c.(8305-8307)Gag>Aag	p.E2769K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2769	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						GCCGTTGTCTCTGAGTTTTCA	0.498000													21	16					0	0	0.001216	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963729	7963729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7963729G>A	ENST00000306708.6	+	3	423	c.322G>A	c.(322-324)Gag>Aag	p.E108K	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	108						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCTGTGTTATGAGACGGCCCT	0.507000													45	32					0	0	0.003610	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202066	140202066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140202066G>A	ENST00000529859.1	+	1	706	c.706G>A	c.(706-708)Gat>Aat	p.D236N	PCDHA5_ENST00000529619.1_Missense_Mutation_p.D236N|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D236N|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	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)			GGATGCTAATGATAACGCCCC	0.378000													40	28					0	0	0.002222	0	0
SPEG	10290	broad.mit.edu	37	2	220338472	220338472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:220338472G>A	ENST00000312358.7	+	18	4426	c.4294G>A	c.(4294-4296)Gca>Aca	p.A1432T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1432	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCCTAGAGGCACGGGCCGG	0.672000													19	48					0	0	0.000958	0	0
SLC2A4	6517	broad.mit.edu	37	17	7188167	7188167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7188167C>T	ENST00000317370.8	+	8	1197	c.929C>T	c.(928-930)tCg>tTg	p.S310L	SLC2A4_ENST00000571308.1_Missense_Mutation_p.S310L|SLC2A4_ENST00000424875.2_Missense_Mutation_p.S300L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	310					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						TTCTATTATTCGACCAGCATC	0.552000													28	123					0	0	0.001512	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371115	97371115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:97371115C>T	ENST00000371224.2	-	16	2145	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.D668N	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	670	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AATTCCAGGTCCCCATACTCA	0.498000													9	172					0	0	0.000673	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433650	67433650	+	Missense_Mutation	SNP	C	C	T	rs139967003		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:67433650C>T	ENST00000349015.3	-	6	700	c.262G>A	c.(262-264)Gga>Aga	p.G88R	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G88R	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	88					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TCCTGGGGTCCGCCCAGCACC	0.647000													17	46					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179456883	179456883	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179456883C>A	ENST00000589042.1	-	302	59972	c.59748G>T	c.(59746-59748)agG>agT	p.R19916S	TTN_ENST00000342175.6_Missense_Mutation_p.R11043S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18275S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10851S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10976S|TTN_ENST00000342992.6_Missense_Mutation_p.R17348S|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18275							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)			CAACATCTCTCCTCTCAACCA	0.438000													9	16					1.12685e-05	1.93803e-05	0.004482	1	0
OR10H4	126541	broad.mit.edu	37	19	16060239	16060239	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16060239A>C	ENST00000322107.1	+	1	422	c.422A>C	c.(421-423)gAc>gCc	p.D141A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AGCCCCCGTGACTGTGCCCAT	0.537000													26	45					0	0	0.001061	0	0
PAPPA	5069	broad.mit.edu	37	9	119115177	119115177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:119115177C>T	ENST00000328252.3	+	16	4526	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	PAPPA_ENST00000534838.1_Missense_Mutation_p.S424F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1386	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCCTGGATCCTCTCGGAAG	0.517000													8	9					0	0	0.004482	0	0
LAD1	3898	broad.mit.edu	37	1	201356204	201356204	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:201356204C>T	ENST00000391967.2	-	3	586	c.285G>A	c.(283-285)cgG>cgA	p.R95R	LAD1_ENST00000367313.3_Silent_p.R109R	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	95						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCCTCTGCCTCCGCTCCTGCC	0.647000													13	12					0	0	0.001368	0	0
MYH1	4619	broad.mit.edu	37	17	10395837	10395837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:10395837C>T	ENST00000226207.5	-	40	5810	c.5716G>A	c.(5716-5718)Gag>Aag	p.E1906K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1906						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCGTGCTGGATC	0.483000													24	72					0	0	0.004656	0	0
EVPL	2125	broad.mit.edu	37	17	74003218	74003218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74003218G>A	ENST00000301607.3	-	22	6321	c.6068C>T	c.(6067-6069)tCc>tTc	p.S2023F	EVPL_ENST00000586740.1_Missense_Mutation_p.S2045F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	2023	Globular 2.				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						GGGGGAGGCGGAGCGGTAGCA	0.687000													6	16					0	0	0.001984	0	0
TLN2	83660	broad.mit.edu	37	15	63000770	63000770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:63000770C>T	ENST00000561311.1	+	20	2472	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	TLN2_ENST00000306829.6_Missense_Mutation_p.R748C			Q9Y4G6	TLN2_HUMAN	talin 2	748					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGGTGGACCGCTCGGTGGA	0.617000													6	36					0	0	0.001168	0	0
ASIC2	40	broad.mit.edu	37	17	31355347	31355347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:31355347G>A	ENST00000225823.2	-	4	1923	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ASIC2_ENST00000359872.6_Missense_Mutation_p.P300S|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	300					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGTAAACAGGAAAAAAGTCG	0.577000													5	30					0	0	0.000602	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769799	112769799	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112769799C>T	ENST00000390666.3	-	1	929	c.738G>A	c.(736-738)aaG>aaA	p.K246K	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	246	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGATGAGGTCCTTGCACTCGC	0.602000													5	26					0	0	0.000602	0	0
CCDC114	93233	broad.mit.edu	37	19	48801296	48801296	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:48801296A>C	ENST00000315396.7	-	12	2034	c.1352T>G	c.(1351-1353)cTt>cGt	p.L451R		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	451										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTTCTTCGGAAGGTCCTCCAG	0.677000													6	23					0	0	0.001984	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056997	120056997	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120056997G>T	ENST00000235547.6	+	4	996	c.857G>T	c.(856-858)tGg>tTg	p.W286L	HSD3B1_ENST00000528909.1_Missense_Mutation_p.W284L|HSD3B1_ENST00000369413.3_Missense_Mutation_p.W284L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	284			F -> L (in dbSNP:rs6205).		androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GATTCCAGATGGAGCTTTCCT	0.478000													25	1791					0.00244969	0.0041805	0.002450	1	0
ITGAL	3683	broad.mit.edu	37	16	30518142	30518142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30518142C>T	ENST00000356798.6	+	21	2653	c.2473C>T	c.(2473-2475)Ccg>Tcg	p.P825S	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P741S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					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)	GCACTTCCCCCCGGGACTCTC	0.597000													27	85					0	0	0.002096	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458769	100458769	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100458769C>T	ENST00000354161.3	+	10	1353	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	SLC12A9_ENST00000428758.1_Silent_p.L410L|SLC12A9_ENST00000415287.1_Silent_p.L321L|SLC12A9_ENST00000275729.3_Silent_p.L321L|SLC12A9_ENST00000540482.1_Silent_p.L410L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	410						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGGTGCTCCTGGCTGGGAA	0.602000													33	31					0	0	0.002836	0	0
ANO4	121601	broad.mit.edu	37	12	101520720	101520720	+	Silent	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:101520720A>C	ENST00000392979.3	+	26	2996	c.2635A>C	c.(2635-2637)Agg>Cgg	p.R879R	ANO4_ENST00000550015.1_Silent_p.R434R|ANO4_ENST00000299222.9_Silent_p.R434R|ANO4_ENST00000392977.3_Silent_p.R914R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	914						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAAGACCTAAGGGATCGAAT	0.438000										HNSCC(74;0.22)			13	16					0	0	0.002450	0	0
GPR84	53831	broad.mit.edu	37	12	54757413	54757413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:54757413G>A	ENST00000551809.1	-	1	858	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P75S|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	75						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ACAGAGAAGGGCTGAAGGAGC	0.577000													4	10					0	0	0.000602	0	0
PITRM1	10531	broad.mit.edu	37	10	3180261	3180261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:3180261G>A	ENST00000380989.2	-	27	3117	c.3079C>T	c.(3079-3081)Ccg>Tcg	p.P1027S	PITRM1_ENST00000224949.4_Missense_Mutation_p.P1026S|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928S|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584S|PITRM1_ENST00000464395.1_5'UTR	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	928					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GCAATTTTCGGGTTCTCGGGT	0.587000													3	3					0	0	0.004672	0	0
POM121L12	285877	broad.mit.edu	37	7	53103958	53103958	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:53103958C>T	ENST00000408890.4	+	1	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	198								p.F198F(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667000													23	24					0	0	0.001061	0	0
KCNV2	169522	broad.mit.edu	37	9	2718192	2718192	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652000													8	1					0	0	0.000443	0	0
F13B	2165	broad.mit.edu	37	1	197029561	197029561	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:197029561A>G	ENST00000367412.1	-	5	783	c.740T>C	c.(739-741)cTa>cCa	p.L247P		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	247	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGATCCACTTAGATAATAATT	0.308000													56	53					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20976520	20976520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:20976520G>A	ENST00000261383.3	-	53	8685	c.8686C>T	c.(8686-8688)Cgc>Tgc	p.R2896C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2896	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)		TTGGCCACGCGATCGTACACC	0.567000													30	76					0	0	0.002096	0	0
CHD8	57680	broad.mit.edu	37	14	21870115	21870115	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:21870115C>T	ENST00000399982.2	-	19	4127		c.e19+1		CHD8_ENST00000555962.1_Splice_Site|CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000557364.1_Splice_Site	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACAGAACATGCCTTAGCAAAG	0.423000													27	94					0	0	0.001271	0	0
EPHA2	1969	broad.mit.edu	37	1	16460021	16460021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:16460021C>T	ENST00000358432.5	-	10	1973	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	607	Mediates interaction with ARHGEF16 and ELMO2.				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)	GGATGGATCTCGGTAGTGAAC	0.592000													10	10					0	0	0.002450	0	0
RNF43	54894	broad.mit.edu	37	17	56435835	56435835	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56435835G>A	ENST00000584437.1	-	8	3257	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	RNF43_ENST00000577716.1_Silent_p.P434P|RNF43_ENST00000500597.2_Silent_p.P393P|RNF43_ENST00000407977.2_Silent_p.P434P|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Silent_p.P307P|RNF43_ENST00000583753.1_Silent_p.P393P|RNF43_ENST00000581868.1_Silent_p.P307P			Q68DV7	RNF43_HUMAN	ring finger protein 43	434						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCGGCGTAGGGGCACTGGGC	0.642000													10	32					0	0	0.002450	0	0
LCT	3938	broad.mit.edu	37	2	136562526	136562526	+	Silent	SNP	G	G	A	rs79686438		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136562526G>A	ENST00000264162.2	-	10	4285	c.4275C>T	c.(4273-4275)gcC>gcT	p.A1425A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1425	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AACTGTCACAGGCCACGTCTC	0.537000													8	25					0	0	0.003080	0	0
CALN1	83698	broad.mit.edu	37	7	71488734	71488734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:71488734C>T	ENST00000395275.2	-	5	797	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CALN1_ENST00000405452.2_Missense_Mutation_p.D95N|CALN1_ENST00000395276.2_Missense_Mutation_p.D95N|CALN1_ENST00000431984.1_Missense_Mutation_p.D95N|CALN1_ENST00000329008.5_Missense_Mutation_p.D95N|CALN1_ENST00000412588.1_Missense_Mutation_p.D137N	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	95						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATGAATTCATCAAAATCCACC	0.458000													35	45					0	0	0.004878	0	0
PSME4	23198	broad.mit.edu	37	2	54175661	54175661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:54175661G>A	ENST00000404125.1	-	3	452	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTCTTGAAAGAAGTTCCTTT	0.348000													24	68					0	0	0.001512	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898773	112898773	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:112898773C>T	ENST00000374530.3	+	8	1129	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	AKAP2_ENST00000434623.2_Silent_p.L175L|AKAP2_ENST00000259318.7_Silent_p.L86L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L317L|AKAP2_ENST00000374525.1_Silent_p.L175L|AKAP2_ENST00000555236.1_Silent_p.L317L|AKAP2_ENST00000510514.5_Silent_p.L317L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		86							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						TGCAGTGGTTCTGGTGGGCGG	0.582000													27	28					0	0	0.001061	0	0
TTC7A	57217	broad.mit.edu	37	2	47206012	47206012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:47206012C>T	ENST00000319190.5	+	5	1098	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.L244F|TTC7A_ENST00000409245.1_Missense_Mutation_p.L210F|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	244							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)			GGAAGCTGCCCTCCAGAGCGC	0.537000													9	19					0	0	0.001855	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456925	110456925	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110456925A>T	ENST00000378402.5	+	38	4931	c.4827A>T	c.(4825-4827)gaA>gaT	p.E1609D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1609	IPT/TIG 8.				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)			TCGTAGAAGAAAGTAGTGAGG	0.368000										HNSCC(38;0.096)			94	119					0	0	0.003610	0	0
ZNF212	7988	broad.mit.edu	37	7	148951059	148951059	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:148951059G>A	ENST00000335870.2	+	5	1169	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GTACACCTGAGGAGCCAGAGG	0.577000													13	9					0	0	0.001855	0	0
PLOD1	5351	broad.mit.edu	37	1	12032952	12032952	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:12032952C>T	ENST00000196061.4	+	18	1953	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	PLOD1_ENST00000376369.3_Silent_p.V689V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	642	Fe2OG dioxygenase.				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)	TGGCCTTTGTCGTCCGCTACA	0.577000													25	16					0	0	0.004656	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725568	3725568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3725568C>T	ENST00000254963.2	+	5	431	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	96							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGGCGGAGACCCGGGCGTGGC	0.627000													14	29					0	0	0.002450	0	0
GABRA2	2555	broad.mit.edu	37	4	46252353	46252353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:46252353C>T	ENST00000510861.1	-	10	1501	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	GABRA2_ENST00000540012.1_Missense_Mutation_p.R448K|GABRA2_ENST00000507069.1_Missense_Mutation_p.R503K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R443K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R443K|GABRA2_ENST00000381620.4_Missense_Mutation_p.R443K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	443					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R443K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACAGGTTCTCTGTTTAAATA	0.348000													19	66					0	0	0.001216	0	0
APC	324	broad.mit.edu	37	5	112174398	112174398	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112174398T>G	ENST00000457016.1	+	16	3487	c.3107T>G	c.(3106-3108)tTg>tGg	p.L1036W	APC_ENST00000257430.4_Missense_Mutation_p.L1036W|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1036W			P25054	APC_HUMAN	adenomatous polyposis coli	1036	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGAGCAGTTGAACTCTGGA	0.353000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			18	31					0	0	0.006122	0	0
TRPM1	4308	broad.mit.edu	37	15	31339375	31339375	+	Missense_Mutation	SNP	C	C	T	rs147667317	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:31339375C>T	ENST00000542188.1	-	14	2067	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	TRPM1_ENST00000397795.2_Missense_Mutation_p.R546H|TRPM1_ENST00000256552.6_Missense_Mutation_p.R568H	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	546					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGTTGCAGCGGTAGGCTCC	0.507000													36	43					0	0	0.001485	0	0
EBF3	253738	broad.mit.edu	37	10	131671774	131671774	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:131671774C>T	ENST00000368648.3	-	8	795	c.723G>A	c.(721-723)ggG>ggA	p.G241G	EBF3_ENST00000355311.5_Silent_p.G241G	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	241					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGCCCGCCTCCCGTGTTTGG	0.507000													20	31					0	0	0.002299	0	0
MATN1	4146	broad.mit.edu	37	1	31194579	31194579	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:31194579C>T	ENST00000373765.4	-	2	149	c.114G>A	c.(112-114)cgG>cgA	p.R38R	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	38	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTGTGGGCCGCGTCCGGC	0.597000													16	10					0	0	0.004990	0	0
ABCC12	94160	broad.mit.edu	37	16	48130780	48130780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:48130780C>T	ENST00000311303.3	-	22	3417	c.3072G>A	c.(3070-3072)tgG>tgA	p.W1024*	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1024	ABC transmembrane type-1 2.					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)				TCAGCGCAAACCACCTGAGAG	0.468000													18	64					0	0	0.002299	0	0
PZP	5858	broad.mit.edu	37	12	9322155	9322155	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:9322155G>A	ENST00000261336.2	-	16	1900	c.1872C>T	c.(1870-1872)acC>acT	p.T624T	PZP_ENST00000381997.2_Silent_p.T493T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGGAAAATTGGTGAGATCCT	0.418000													17	21					0	0	0.001882	0	0
CCDC50	152137	broad.mit.edu	37	3	191098022	191098022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:191098022G>A	ENST00000392455.3	+	6	1121	c.523G>A	c.(523-525)Gat>Aat	p.D175N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D351N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	175						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GGAATGGTATGATGCTGAAAT	0.348000													9	24					0	0	0.001368	0	0
NUP214	8021	broad.mit.edu	37	9	134073039	134073039	+	Silent	SNP	C	C	T	rs3739507	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:134073039C>T	ENST00000359428.5	+	29	4302	c.4158C>T	c.(4156-4158)ccC>ccT	p.P1386P	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Silent_p.P1387P|NUP214_ENST00000483497.2_Silent_p.P212P|NUP214_ENST00000411637.2_Silent_p.P1376P			P35658	NU214_HUMAN	nucleoporin 214kDa	1386	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACACGGAGCCCCCTGTGACAT	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								30	32					0	0	0.001512	0	0
MTMR4	9110	broad.mit.edu	37	17	56585613	56585613	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:56585613T>C	ENST00000323456.5	-	8	698	c.574A>G	c.(574-576)Aag>Gag	p.K192E	MTMR4_ENST00000579925.1_Missense_Mutation_p.K192E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	192	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAGCAGCTTCTGGGGGTAA	0.557000													23	50					0	0	0.003330	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100871156	100871156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:100871156G>A	ENST00000268070.4	-	3	659	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	185					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)		GGGGGTCAAGGACCATTTGCG	0.582000													28	36					0	0	0.001271	0	0
ABCC4	10257	broad.mit.edu	37	13	95816740	95816740	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:95816740C>T	ENST00000376887.4	-	16	2181	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000431522.1_Silent_p.E689E|ABCC4_ENST00000536256.1_Silent_p.E614E	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	689					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGAACGGTTCTCCTCTGATA	0.408000													11	15					0	0	0.000978	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998800	83998800	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:83998800C>G	ENST00000343939.2	+	7	1254	c.871C>G	c.(871-873)Ccc>Gcc	p.P291A	OSGIN1_ENST00000361711.3_Missense_Mutation_p.P208A|OSGIN1_ENST00000393306.1_Missense_Mutation_p.P208A			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	291					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCCCCGATCCCAGCAGCTG	0.642000													27	16					0	0	0.001271	0	0
USP45	85015	broad.mit.edu	37	6	99894322	99894322	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:99894322G>A	ENST00000327681.6	-	14	1858	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D	USP45_ENST00000539675.1_Intron|USP45_ENST00000392738.2_Silent_p.D122D|USP45_ENST00000500704.2_Silent_p.D442D|USP45_ENST00000369233.2_Silent_p.D394D	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	442					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D442D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TACATTTTCGGTCATGAATTA	0.323000													26	20					0	0	0.003954	0	0
CPNE4	131034	broad.mit.edu	37	3	131624108	131624108	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:131624108C>T	ENST00000512055.1	-	6	2306	c.180_splice	c.e6+1	p.E60_splice	CPNE4_ENST00000512332.1_Splice_Site_p.E78_splice|CPNE4_ENST00000502818.1_Splice_Site_p.E78_splice|CPNE4_ENST00000429747.1_Splice_Site_p.E60_splice|CPNE4_ENST00000511604.1_Splice_Site_p.E60_splice			Q96A23	CPNE4_HUMAN	copine IV	60	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACATGCCTACCTCAAACCACT	0.438000													46	50					0	0	0.003610	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779029	156779029	+	Missense_Mutation	SNP	C	C	T	rs144238677		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:156779029C>T	ENST00000392306.2	-	7	1137	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	SH2D2A_ENST00000368199.3_Missense_Mutation_p.R323Q|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R305Q	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	323	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGCTCTTCCGTAGGACAGG	0.612000													28	92					0	0	0.001512	0	0
MUC3A	4584	broad.mit.edu	37	7	100552928	100552928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100552928C>T	ENST00000319509.7	+	2	1573	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTGTGCTTGCCTTCCGGGGTT	0.567000													11	56					0	0	0.006122	0	0
KANK2	25959	broad.mit.edu	37	19	11285256	11285256	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:11285256C>G	ENST00000432929.2	-	9	2345	c.1985G>C	c.(1984-1986)cGg>cCg	p.R662P	KANK2_ENST00000586659.1_Missense_Mutation_p.R654P|KANK2_ENST00000589359.1_Missense_Mutation_p.R662P|KANK2_ENST00000355150.5_Missense_Mutation_p.R654P|KANK2_ENST00000589894.1_Missense_Mutation_p.R654P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	654										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCAGCAGCCGCGCAGACAT	0.667000													3	3					0	0	0.004672	0	0
ITPR1	3708	broad.mit.edu	37	3	4854903	4854903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:4854903C>T	ENST00000354582.6	+	56	7851	c.7501C>T	c.(7501-7503)Cct>Tct	p.P2501S	ITPR1_ENST00000544951.1_Missense_Mutation_p.P479S|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.P2453S|ITPR1_ENST00000443694.2_Missense_Mutation_p.P2501S|ITPR1_ENST00000423119.2_Missense_Mutation_p.P2468S|ITPR1_ENST00000357086.4_Missense_Mutation_p.P2468S|ITPR1_ENST00000302640.8_Missense_Mutation_p.P2501S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2516	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGCTCCTCTCCTGCACCCAG	0.507000													34	36					0	0	0.003271	0	0
NME6	10201	broad.mit.edu	37	3	48336702	48336702	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:48336702A>G	ENST00000421967.1	-	5	326	c.281T>C	c.(280-282)cTt>cCt	p.L94P	NME6_ENST00000415053.1_Missense_Mutation_p.L86P|NME6_ENST00000451657.1_Silent_p.L73L|NME6_ENST00000442597.1_Missense_Mutation_p.L86P|NME6_ENST00000435684.1_Silent_p.L73L|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000447314.1_Missense_Mutation_p.L41P|NME6_ENST00000450160.1_Silent_p.L73L|NME6_ENST00000426723.1_Intron|NME6_ENST00000452211.1_Missense_Mutation_p.L86P|NME6_ENST00000415644.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.L86P	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	86					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)		CTTGTGGGCAAGGATGTAGGC	0.557000													17	11					0	0	0.004990	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540152	169540152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:169540152G>A	ENST00000340806.6	+	1	443	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	148										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTGCTCGGACTGACCGGA	0.537000													27	23					0	0	0.003954	0	0
ZNF106	64397	broad.mit.edu	37	15	42743992	42743992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:42743992C>T	ENST00000263805.4	-	2	735	c.409G>A	c.(409-411)Gat>Aat	p.D137N	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106									p.D137fs*4(1)									TTAAAGCCATCTTTTTCCCAT	0.488000													35	37					0	0	0.002836	0	0
FCGBP	8857	broad.mit.edu	37	19	40363276	40363276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40363276C>T	ENST00000221347.6	-	32	14801	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4932	VWFD 12.					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)			GCCACAGCCTCGCCGTCCACG	0.652000													4	5					0	0	0.000248	0	0
TGM7	116179	broad.mit.edu	37	15	43572089	43572089	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:43572089C>A	ENST00000452443.2	-	10	1416	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	471					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		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;9.14e-07)	L-Glutamine(DB00130)	CAAAGAAGCTCTTTGGGGGCC	0.597000													29	31					2.47511e-08	4.27166e-08	0.001512	1	0
IGHV1-45	28466	broad.mit.edu	37	14	106963163	106963163	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106963163G>A	ENST00000390621.2	-	0	176																											AGCCTTGCAGGAAACCTTCAC	0.577000													12	43					0	0	0.001368	0	0
OR52B4	143496	broad.mit.edu	37	11	4389181	4389181	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4389181C>T	ENST00000408920.2	-	1	435	c.345G>A	c.(343-345)ggG>ggA	p.G115G		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGCAAGATCCCTGACTCAG	0.473000													27	14					0	0	0.004656	0	0
NRG3	10718	broad.mit.edu	37	10	84118593	84118593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:84118593G>A	ENST00000372142.2	+	3	533	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	NRG3_ENST00000404547.1_Missense_Mutation_p.E308K|NRG3_ENST00000404576.2_Missense_Mutation_p.E112K|NRG3_ENST00000372141.2_Missense_Mutation_p.E308K|NRG3_ENST00000556918.1_Missense_Mutation_p.E138K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	308					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTTTGTGATCGAAACCCTGAC	0.557000													19	20					0	0	0.001216	0	0
OR52H1	390067	broad.mit.edu	37	11	5565796	5565796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:5565796C>T	ENST00000322653.4	-	1	983	c.958G>A	c.(958-960)Gga>Aga	p.G320R	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACATCATCCTGTACCCTTA	0.378000													28	31					0	0	0.005443	0	0
IGFN1	91156	broad.mit.edu	37	1	201195037	201195037	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:201195037G>T	ENST00000335211.4	+	22	10702	c.10572G>T	c.(10570-10572)gaG>gaT	p.E3524D	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						CTCCTGACGAGGCCCAGGATG	0.682000													7	5					2.0095e-06	3.46056e-06	0.001984	1	0
MUC16	94025	broad.mit.edu	37	19	9070548	9070548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9070548G>A	ENST00000397910.4	-	3	17101	c.16898C>T	c.(16897-16899)tCc>tTc	p.S5633F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5635	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						TGACATCAGGGAAAACCCAGA	0.527000													4	19					0	0	0.000248	0	0
DDX60	55601	broad.mit.edu	37	4	169189085	169189085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:169189085C>T	ENST00000393743.3	-	21	3127	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	946							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)		GTATTATTTTCAATTATTTTG	0.353000													40	38					0	0	0.001485	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216728	1216728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1216728G>A	ENST00000304460.10	+	7	999	c.943G>A	c.(943-945)Gtg>Atg	p.V315M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	315					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTTCACATCGGTGTATGTGGC	0.587000													5	27					0	0	0.000602	0	0
FAT3	120114	broad.mit.edu	37	11	92531893	92531893	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:92531893T>C	ENST00000298047.6	+	9	5731	c.5714T>C	c.(5713-5715)gTt>gCt	p.V1905A	FAT3_ENST00000409404.2_Missense_Mutation_p.V1905A|FAT3_ENST00000525166.1_Missense_Mutation_p.V1755A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1905	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCTGAAAGTTAGTGCCACA	0.433000										TCGA Ovarian(4;0.039)			243	17					0	0	0.003610	0	0
PEX5	5830	broad.mit.edu	37	12	7360659	7360659	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:7360659C>T	ENST00000266563.5	+	11	1236	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	PEX5_ENST00000266564.3_Silent_p.A380A|PEX5_ENST00000420616.2_Silent_p.A388A|PEX5_ENST00000434354.2_Silent_p.A403A|PEX5_ENST00000455147.2_Silent_p.A388A|PEX5_ENST00000412720.2_Silent_p.A409A	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	388					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AACTATTAGCCATCAGTGCAT	0.493000													13	19					0	0	0.002450	0	0
ACPP	55	broad.mit.edu	37	3	132051046	132051046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:132051046G>A	ENST00000336375.5	+	4	404	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	ACPP_ENST00000351273.7_Missense_Mutation_p.R105Q|ACPP_ENST00000475741.1_Missense_Mutation_p.R105Q|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.R105Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTTTATATTCGAAGCACAGAC	0.463000													63	74					0	0	0.003610	0	0
CNTROB	116840	broad.mit.edu	37	17	7839764	7839764	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7839764C>T	ENST00000380262.3	+	5	1600	c.675C>T	c.(673-675)gaC>gaT	p.D225D	CNTROB_ENST00000380255.3_Silent_p.D225D|CNTROB_ENST00000565740.1_Silent_p.D225D|CNTROB_ENST00000563694.1_Silent_p.D225D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	225					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)				TGGCTGCCGACCGCAAGAAAG	0.488000													13	57					0	0	0.002450	0	0
ZNF292	23036	broad.mit.edu	37	6	87970462	87970462	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:87970462A>G	ENST00000369577.3	+	8	7158	c.7115A>G	c.(7114-7116)aAt>aGt	p.N2372S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N2367S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2372					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)		AAGGCTAGAAATGATGCCCTG	0.338000													11	38					0	0	0.000673	0	0
TIGIT	201633	broad.mit.edu	37	3	114014596	114014596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:114014596C>T	ENST00000481065.1	+	3	3082	c.467C>T	c.(466-468)cCc>cTc	p.P156L	TIGIT_ENST00000383671.3_Missense_Mutation_p.P89L|TIGIT_ENST00000486257.1_Missense_Mutation_p.P89L			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	89					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GCCCCAGGTCCCGGCCTGGGC	0.582000													15	25					0	0	0.006122	0	0
TNXB	7148	broad.mit.edu	37	6	32037466	32037466	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:32037466G>A	ENST00000375244.3	-	15	5652	c.5451C>T	c.(5449-5451)ccC>ccT	p.P1817P	TNXB_ENST00000375247.2_Silent_p.P1817P			P22105	TENX_HUMAN	tenascin XB	1899	Fibronectin type-III 10.				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						GCACCACCTGGGGCTGCCCGT	0.657000													38	153					0	0	0.004289	0	0
EXT2	2132	broad.mit.edu	37	11	44255677	44255677	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:44255677C>T	ENST00000395673.3	+	12	1974	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	EXT2_ENST00000343631.3_Silent_p.L607L|EXT2_ENST00000358681.4_Silent_p.L617L|EXT2_ENST00000533608.1_Silent_p.L607L	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	607					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTTTAATTACCTGTATACCTA	0.423000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				21	0					0	0	0.003954	0	0
UNC5D	137970	broad.mit.edu	37	8	35544065	35544065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:35544065G>A	ENST00000287272.2	+	6	774	c.754G>A	c.(754-756)Gat>Aat	p.D252N	UNC5D_ENST00000420357.1_Missense_Mutation_p.D252N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D308N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D308N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D303N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	308	TSP type-1 1.				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)		CTTTGAAGTGGATGGGAGCTG	0.517000													8	18					0	0	0.000443	0	0
MYLK3	91807	broad.mit.edu	37	16	46771661	46771661	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:46771661C>T	ENST00000394809.4	-	3	1078	c.963G>A	c.(961-963)caG>caA	p.Q321Q	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	321					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTGCCCTGGCCTGGGCTGGCA	0.667000													11	30					0	0	0.001368	0	0
ZMYND8	23613	broad.mit.edu	37	20	45916029	45916029	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:45916029C>T	ENST00000311275.7	-	8	942		c.e8-1		ZMYND8_ENST00000360911.3_Splice_Site|ZMYND8_ENST00000471951.2_Splice_Site|ZMYND8_ENST00000446994.2_Splice_Site|ZMYND8_ENST00000352431.2_Splice_Site|ZMYND8_ENST00000540497.1_Splice_Site|ZMYND8_ENST00000536340.1_Splice_Site|ZMYND8_ENST00000458360.2_Splice_Site|ZMYND8_ENST00000396281.4_Splice_Site|ZMYND8_ENST00000262975.4_Splice_Site|ZMYND8_ENST00000372023.3_Splice_Site|ZMYND8_ENST00000461685.1_Splice_Site|ZMYND8_ENST00000468376.2_Splice_Site|ZMYND8_ENST00000355972.4_Splice_Site			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8								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)			TTGTGATTTCCTAAGGGAATA	0.423000													8	20					0	0	0.004482	0	0
OVGP1	5016	broad.mit.edu	37	1	111957818	111957818	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:111957818G>A	ENST00000369732.3	-	11	1360	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	435					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACTTTCCGTGGATCTCAGTGA	0.498000													32	19					0	0	0.002096	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25145914	25145914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:25145914C>T	ENST00000320152.6	-	6	462	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G145E	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	145					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CCTCCCAGTTCCGACAACATC	0.408000													14	41					0	0	0.003163	0	0
AXL	558	broad.mit.edu	37	19	41762487	41762487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41762487G>A	ENST00000301178.4	+	18	2357	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	AXL_ENST00000359092.3_Missense_Mutation_p.D714N|AXL_ENST00000593513.1_Missense_Mutation_p.D455N	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	723	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GAGTCTAGCTGACCGTGTCTA	0.567000													15	26					0	0	0.004007	0	0
RBM10	8241	broad.mit.edu	37	X	47045478	47045478	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:47045478G>A	ENST00000377604.3	+	22	3187	c.2445G>A	c.(2443-2445)cgG>cgA	p.R815R	RBM10_ENST00000329236.7_Silent_p.R737R|RBM10_ENST00000345781.6_Silent_p.R738R|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	815					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGAAGTACCGGGACCGTGCAG	0.557000													9	0					0	0	0.000443	0	0
MUC16	94025	broad.mit.edu	37	19	9056722	9056722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:9056722C>T	ENST00000397910.4	-	3	30927	c.30724G>A	c.(30724-30726)Ggg>Agg	p.G10242R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10244	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						GAGGTTATCCCAGTGGACTCC	0.453000													25	32					0	0	0.003954	0	0
IKZF2	22807	broad.mit.edu	37	2	213872409	213872409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:213872409G>A	ENST00000457361.1	-	8	1424	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	IKZF2_ENST00000342002.2_Missense_Mutation_p.S425F|IKZF2_ENST00000451136.2_Missense_Mutation_p.S347F|IKZF2_ENST00000374319.4_Missense_Mutation_p.S393F|IKZF2_ENST00000421754.2_Missense_Mutation_p.S345F|IKZF2_ENST00000434687.1_Missense_Mutation_p.S419F|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.S274F	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCTTGGTAGGACTGGTGGTC	0.517000													45	95					0	0	0.003610	0	0
LOC645752	645752	broad.mit.edu	37	15	78212407	78212407	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:78212407G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TATGTGTTTAGCATATTCGTC	0.517000													6	117					0	0	0.000978	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055512	72055512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:72055512G>A	ENST00000555818.1	+	2	1271	c.923G>A	c.(922-924)gGg>gAg	p.G308E	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G308E|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G308E	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	308					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAGAACTTGGGAAGTCATCA	0.413000													23	26					0	0	0.001882	0	0
GDF2	2658	broad.mit.edu	37	10	48416399	48416399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:48416399C>T	ENST00000249598.1	-	1	454	c.295G>A	c.(295-297)Gat>Aat	p.D99N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	99					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTCGACTTATCGGACGTGTAC	0.587000													10	36					0	0	0.000978	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421999	62421999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:62421999C>T	ENST00000245663.4	-	2	262	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ZBTB46_ENST00000395104.1_Missense_Mutation_p.E38K|ZBTB46_ENST00000302995.2_Missense_Mutation_p.E38K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ACCTTGCCCTCCACGACCACG	0.612000													24	22					0	0	0.003330	0	0
CHRM4	1132	broad.mit.edu	37	11	46407155	46407155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:46407155G>A	ENST00000433765.2	-	1	952	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	318					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GGGCGTGGTGGCCTCTGTGGT	0.637000													31	0					0	0	0.001271	0	0
WDR90	197335	broad.mit.edu	37	16	700291	700291	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:700291T>G	ENST00000549091.1	+	4	409	c.317T>G	c.(316-318)tTc>tGc	p.F106C	WDR90_ENST00000293879.4_Missense_Mutation_p.F106C	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	106										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCAACCTCTTCAAGGAGTTT	0.612000													70	104					0	0	0.003610	0	0
TIE1	7075	broad.mit.edu	37	1	43783010	43783010	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:43783010C>T	ENST00000372476.3	+	15	2629	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	TIE1_ENST00000433781.2_Silent_p.F495F|TIE1_ENST00000473014.1_3'UTR	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	850	Protein kinase.				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)				AGGGGAACTTCGGCCAGGTCA	0.612000													35	15					0	0	0.001706	0	0
CLCN1	1180	broad.mit.edu	37	7	143043244	143043244	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143043244C>T	ENST00000343257.2	+	18	2271	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	728					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTCCTCCTTCCCTTGCTCTCC	0.582000													8	27					0	0	0.004482	0	0
GNAT1	2779	broad.mit.edu	37	3	50232078	50232078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:50232078G>A	ENST00000232461.3	+	7	967	c.853G>A	c.(853-855)Gac>Aac	p.D285N	GNAT1_ENST00000433068.1_Missense_Mutation_p.D285N	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	285					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)		CTGTTTCCCGGACTACGATGG	0.637000											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	41					0	0	0.003755	0	0
P2RY10	27334	broad.mit.edu	37	X	78216644	78216644	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:78216644C>T	ENST00000171757.2	+	4	907	c.627C>T	c.(625-627)atC>atT	p.I209I	P2RY10_ENST00000544091.1_Silent_p.I209I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	209						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GATTTGTGATCCCAGTGATCA	0.468000													20	19					0	0	0.002299	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025843	99025843	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:99025843G>A	ENST00000453547.2	-	2	95	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ARHGAP19_ENST00000371027.1_Silent_p.S23S|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.S32S|ARHGAP19_ENST00000355366.5_Silent_p.S23S|ARHGAP19_ENST00000358531.4_Silent_p.S32S|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.S32S																							GACCTCGAAGGGAAGAATCAT	0.393000													9	47					0	0	0.004482	0	0
C5orf42	65250	broad.mit.edu	37	5	37165645	37165645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:37165645G>A	ENST00000274258.7	-	36	7756	c.4169C>T	c.(4168-4170)cCc>cTc	p.P1390L	C5orf42_ENST00000508244.1_Missense_Mutation_p.P2510L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2510L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2510										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)			CTATACCTTGGGTTTCTTAAT	0.358000													9	28					0	0	0.000443	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417449	150417449	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150417449C>T	ENST00000307194.5	+	3	497	c.357C>T	c.(355-357)acC>acT	p.T119T		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGGTGACCCAGTTGGGTC	0.612000													14	18					0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152354181	152354181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:152354181C>T	ENST00000427231.2	-	171	24461	c.24259G>A	c.(24259-24261)Gag>Aag	p.E8087K	NEB_ENST00000509223.2_Intron|NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.E8087K|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.E62K|NEB_ENST00000397345.3_Missense_Mutation_p.E8087K|NEB_ENST00000604864.1_Missense_Mutation_p.E8087K|NEB_ENST00000498015.2_Intron|NEB_ENST00000409198.1_Intron	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6386					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)		CTTTCCATCTCGGGAGTGACA	0.353000													4	5					0	0	0.000602	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6938851	6938851	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrY:6938851A>C	ENST00000383032.1	+	10	1328	c.681A>C	c.(679-681)gaA>gaC	p.E227D	TBL1Y_ENST00000355162.2_Missense_Mutation_p.E227D|TBL1Y_ENST00000346432.3_Missense_Mutation_p.E227D	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	227					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GTATACGAGAAGGGGGGCACG	0.488000													37	1					0	0	0.004878	0	0
DSG1	1828	broad.mit.edu	37	18	28911671	28911671	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:28911671G>A	ENST00000257192.4	+	6	737	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	175	Cadherin 2.				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)			TAGATACACTGGTGATGATAC	0.333000													7	8					0	0	0.003080	0	0
OR5H1	26341	broad.mit.edu	37	3	97852023	97852023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:97852023G>A	ENST00000354565.2	+	1	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATCCATGAAGGATTTTTATTC	0.353000													8	73					0	0	0.002780	0	0
SIRT5	23408	broad.mit.edu	37	6	13612093	13612093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:13612093C>T	ENST00000606117.1	+	10	1225	c.929C>T	c.(928-930)tCt>tTt	p.S310F	SIRT5_ENST00000397350.2_Missense_Mutation_p.S202F|SIRT5_ENST00000359782.3_Missense_Mutation_p.S292F	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	310					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GAAACTGTTTCTTAAGTGTCC	0.438000													66	187					0	0	0.003610	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635724	141635724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:141635724G>A	ENST00000546910.1	-	5	431	c.235C>T	c.(235-237)Caa>Taa	p.Q79*	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Nonsense_Mutation_p.Q56*|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Nonsense_Mutation_p.Q56*	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	79	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					CATCTTGCTTGATAAAATTCC	0.413000													15	37					0	0	0.002450	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355379	98355379	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:98355379C>T	ENST00000339364.5	-	17	2492	c.2373G>A	c.(2371-2373)agG>agA	p.R791R	PIK3AP1_ENST00000371109.3_Silent_p.R390R|PIK3AP1_ENST00000371110.2_Silent_p.R613R	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	791	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGAAGGTCTCCCTGGTCGGAG	0.433000													36	44					0	0	0.004878	0	0
DMBT1	1755	broad.mit.edu	37	10	124331842	124331842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:124331842C>T	ENST00000368909.3	+	5	306	c.200C>T	c.(199-201)tCc>tTc	p.S67F	DMBT1_ENST00000368955.3_Missense_Mutation_p.S67F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S67F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S67F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S67F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S67F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S67F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	67					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCCGATTTCCTTGGAGTCA	0.522000													36	67					0	0	0.004878	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838513	43838513	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43838513C>T	ENST00000319294.6	+	7	872	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	UBASH3A_ENST00000291535.6_Silent_p.L243L|UBASH3A_ENST00000398367.1_Silent_p.L243L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	281	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTTCTAGACCCTGAGAGCCCT	0.517000													42	64					0	0	0.003214	0	0
GBP7	388646	broad.mit.edu	37	1	89615181	89615181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:89615181C>T	ENST00000294671.2	-	7	1084	c.946G>A	c.(946-948)Gca>Aca	p.A316T		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	316						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCCAGAACTGCCATTGCATTC	0.547000													9	18					0	0	0.004482	0	0
RSBN1	54665	broad.mit.edu	37	1	114319871	114319871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:114319871G>A	ENST00000261441.5	-	4	1682	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	540						nucleus				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)		ATCTGCTGTAGGGATCATCTG	0.423000													27	58					0	0	0.001271	0	0
CALB1	793	broad.mit.edu	37	8	91081394	91081394	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:91081394C>T	ENST00000265431.3	-	4	484	c.303G>A	c.(301-303)gaG>gaA	p.E101E	CALB1_ENST00000518457.1_Silent_p.E44E	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	101	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATGAATTCCTCACAGGACT	0.388000													10	56					0	0	0.000673	0	0
LGI3	203190	broad.mit.edu	37	8	22006231	22006231	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:22006231G>A	ENST00000306317.2	-	8	1378	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	LGI3_ENST00000424267.2_Silent_p.G339G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	363					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGGAGTAGAAGCCATTCTGGT	0.632000													14	15					0	0	0.004990	0	0
OR10J3	441911	broad.mit.edu	37	1	159283943	159283943	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159283943G>A	ENST00000332217.5	-	1	506	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169F(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCATCACAGAATGGCAGGC	0.502000													20	18					0	0	0.001216	0	0
SLIT3	6586	broad.mit.edu	37	5	168096985	168096985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:168096985C>T	ENST00000519560.1	-	35	4558	c.4139G>A	c.(4138-4140)gGa>gAa	p.G1380E	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1387E|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1380E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1380	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACATTTTCCATGGTGGCA	0.567000													6	10					0	0	0.001984	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143403	61143403	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:61143403C>T	ENST00000475015.1	-	0	935				C20orf166-AS1_ENST00000412495.1_RNA																							ACCCCCTCTCCCTGGCAGCCG	0.642000													14	16					0	0	0.002450	0	0
PDE8B	8622	broad.mit.edu	37	5	76707948	76707948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:76707948C>T	ENST00000264917.5	+	16	1645	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F	PDE8B_ENST00000340978.3_Missense_Mutation_p.L487F|PDE8B_ENST00000342343.4_Missense_Mutation_p.L514F|PDE8B_ENST00000333194.4_Missense_Mutation_p.L479F|PDE8B_ENST00000346042.3_Missense_Mutation_p.L437F|PDE8B_ENST00000505283.1_5'UTR	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	534					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)		TCACAGTCACCTTGCAATGCC	0.453000													101	187					0	0	0.003610	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616506	43616506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:43616506G>A	ENST00000360835.3	-	14	1763	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	546					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGTGATGTGGGACACCTCCTT	0.577000													12	43					0	0	0.001368	0	0
GABRB2	2561	broad.mit.edu	37	5	160761766	160761766	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:160761766C>T	ENST00000274547.2	-	8	1042	c.825G>A	c.(823-825)gtG>gtA	p.V275V	GABRB2_ENST00000517547.1_Silent_p.V115V|GABRB2_ENST00000517901.1_Silent_p.V212V|GABRB2_ENST00000353437.6_Silent_p.V275V|GABRB2_ENST00000393959.1_Silent_p.V275V|GABRB2_ENST00000520240.1_Silent_p.V275V	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	275					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TACCTAATGCCACCCTTGCAG	0.438000													22	16					0	0	0.002780	0	0
KRT33A	3883	broad.mit.edu	37	17	39506882	39506882	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39506882C>A	ENST00000007735.3	-	1	182	c.138G>T	c.(136-138)tgG>tgT	p.W46C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	46	Head.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCTCACAGAACCAGTTGCAGT	0.652000													27	45					9.80776e-20	1.70454e-19	0.001061	1	0
C14orf39	317761	broad.mit.edu	37	14	60928270	60928270	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:60928270T>G	ENST00000321731.3	-	12	1173	c.1014A>C	c.(1012-1014)tcA>tcC	p.S338S		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	338										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCGTAATATGTGAACATTTTG	0.279000													17	27					0	0	0.000958	0	0
LAMA1	284217	broad.mit.edu	37	18	7008537	7008537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:7008537G>A	ENST00000389658.3	-	28	4165	c.4072C>T	c.(4072-4074)Ctt>Ttt	p.L1358F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1358	Laminin IV type A 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)	TTCTCTAAAAGAGATGCAACC	0.453000													22	9					0	0	0.001523	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897030	205897030	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:205897030C>T	ENST00000367135.3	-	9	1214	c.1101_splice	c.e9+1	p.Q367_splice	SLC26A9_ENST00000340781.4_Splice_Site_p.Q367_splice|SLC26A9_ENST00000367134.2_Splice_Site_p.Q367_splice	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	367						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)			CCAGAGCTACCTGGTTCGAAT	0.607000													10	53					0	0	0.003163	0	0
COL5A3	50509	broad.mit.edu	37	19	10081685	10081685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:10081685C>T	ENST00000264828.3	-	53	3933	c.3848G>A	c.(3847-3849)gGg>gAg	p.G1283E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1283	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)			TCCCTTCTCCCCTGGGGAACC	0.582000													10	34					0	0	0.001368	0	0
RXFP2	122042	broad.mit.edu	37	13	32367143	32367143	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:32367143G>A	ENST00000298386.2	+	16	1775	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G	RXFP2_ENST00000380314.1_Silent_p.G544G	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	568						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTTTTATGGGAAAAATGGAG	0.343000													12	30					0	0	0.000978	0	0
OR6C1	390321	broad.mit.edu	37	12	55715296	55715296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:55715296A>T	ENST00000379668.2	+	1	951	c.913A>T	c.(913-915)Aag>Tag	p.K305*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGGCAAGGAAGACTGTATT	0.388000													13	34					0	0	0.004007	0	0
ZNF556	80032	broad.mit.edu	37	19	2873517	2873517	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:2873517G>A	ENST00000586426.1	+	2	114	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ZNF556_ENST00000307635.2_Silent_p.V9V			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TTGAAGACGTGGTTGTGGATT	0.488000													15	55					0	0	0.002450	0	0
ARMC1	55156	broad.mit.edu	37	8	66517673	66517673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:66517673G>A	ENST00000276569.3	-	5	810	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ARMC1_ENST00000458464.2_Missense_Mutation_p.S87L	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	189					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTTCAAATCTGAACGGATTCG	0.333000													27	50					0	0	0.003755	0	0
FAM47C	442444	broad.mit.edu	37	X	37027926	37027926	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:37027926G>A	ENST00000358047.3	+	1	1495	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	481										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCCAGAGAAGGACGTATCTC	0.632000													42	2					0	0	0.001706	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:40958352G>A	ENST00000313164.9	+	11	1837	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000													5	23					0	0	0.000602	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949512	34949512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:34949512C>T	ENST00000360359.3	+	4	619	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	ANKS1A_ENST00000535627.1_Missense_Mutation_p.H161Y	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	161						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTATGGCCACACAGAGGT	0.547000													31	15					0	0	0.001786	0	0
CACNA1E	777	broad.mit.edu	37	1	181721290	181721290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:181721290G>A	ENST00000526775.1	+	26	3851	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1248E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1199E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G855E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1180E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1229E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1248E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1248	Poly-Val.				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						ACCAACAAAGGACGGGACATC	0.483000													30	27					0	0	0.001786	0	0
LVRN	206338	broad.mit.edu	37	5	115298969	115298969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:115298969G>A	ENST00000357872.4	+	1	779	c.655G>A	c.(655-657)Gga>Aga	p.G219R	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		219					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCTCAGGGAGGGACTCTTCCT	0.647000													3	8					0	0	0.000602	0	0
ZNF536	9745	broad.mit.edu	37	19	31038939	31038939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:31038939C>T	ENST00000355537.3	+	4	2560	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCGGGAGCGGCAGAACGG	0.537000													11	66					0	0	0.001368	0	0
CD4	920	broad.mit.edu	37	12	6909577	6909577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:6909577C>T	ENST00000011653.4	+	3	412	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	52	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CATACAATTCCACTGGAAAAA	0.498000													16	17					0	0	0.004007	0	0
DNER	92737	broad.mit.edu	37	2	230231734	230231734	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:230231734T>C	ENST00000341772.4	-	12	2091	c.1957A>G	c.(1957-1959)Atg>Gtg	p.M653V		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	653					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.M653L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGATCAGCATAAGGATGAAG	0.562000													5	14					0	0	0.000602	0	0
REEP1	65055	broad.mit.edu	37	2	86509330	86509330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:86509330G>A	ENST00000165698.5	-	2	211	c.68C>T	c.(67-69)tCc>tTc	p.S23F	REEP1_ENST00000538924.1_Missense_Mutation_p.S30F|REEP1_ENST00000541910.1_Missense_Mutation_p.S23F|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000473407.1_5'UTR	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	23					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						AGCCTTGTAGGAATAATACGC	0.393000													83	37					0	0	0.003610	0	0
MIR134	406924	broad.mit.edu	37	14	101521068	101521068	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:101521068C>T	ENST00000385258.2	+	0	61					NR_029698.1																						ACTGTGTTCACCCTGTGGGCC	0.607000													16	12					0	0	0.006122	0	0
ASH1L	55870	broad.mit.edu	37	1	155319343	155319343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:155319343G>A	ENST00000368346.3	-	18	8065	c.7426C>T	c.(7426-7428)Cca>Tca	p.P2476S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P2471S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2476	Bromo.				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)			TTTTTCTTTGGGGGAAGGTTC	0.448000													11	14					0	0	0.001368	0	0
HOXA2	3199	broad.mit.edu	37	7	27140891	27140891	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:27140891C>T	ENST00000222718.5	-	2	895	c.585G>A	c.(583-585)agG>agA	p.R195R		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	195						nucleus	sequence-specific DNA binding transcription factor activity	p.R195S(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGCTTCATCCTCCGGTTCT	0.493000													11	37					0	0	0.000978	0	0
ZNF761	388561	broad.mit.edu	37	19	53945568	53945568	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:53945568C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			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)		CTGGCAGAGTCCCGTTGCTGA	0.488000													32	30					0	0	0.001287	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2987337	2987337	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:2987337C>T	ENST00000399667.2	+	9	2239	c.1876C>T	c.(1876-1878)Ctg>Ttg	p.L626L	FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000416288.2_Silent_p.L576L|FLYWCH1_ENST00000253928.9_Silent_p.L577L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	577						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCTGGAGGCCCTGCGGCAGCG	0.736000													5	6					0	0	0.001168	0	0
GPR142	350383	broad.mit.edu	37	17	72368373	72368373	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:72368373G>A	ENST00000335666.4	+	4	1071	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	341						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						ACCGGCTACGGAGGAGGGGCC	0.637000													5	25					0	0	0.003080	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000079	8000079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:8000079G>A	ENST00000380149.1	-	15	2500	c.2470C>T	c.(2470-2472)Ccg>Tcg	p.P824S	ALOXE3_ENST00000448843.2_Missense_Mutation_p.P668S|ALOXE3_ENST00000318227.3_Missense_Mutation_p.P800S			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	668					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTCCGCCTCGGGGCCTCCTCT	0.612000													22	18					0	0	0.003954	0	0
ASUN	55726	broad.mit.edu	37	12	27070630	27070630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:27070630G>A	ENST00000261191.7	-	9	1462	c.926C>T	c.(925-927)tCg>tTg	p.S309L	ASUN_ENST00000539625.1_Missense_Mutation_p.S208L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	309					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCTTTAAACGAGCCTTCTCG	0.353000													21	27					0	0	0.002780	0	0
CRTC3	64784	broad.mit.edu	37	15	91147628	91147628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:91147628C>T	ENST00000420329.2	+	5	572	c.425C>T	c.(424-426)cCt>cTt	p.P142L	CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000268184.6_Missense_Mutation_p.P142L	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCAGCCTCCTTGGAAAGAC	0.443000			T	MAML2	salivary gland mucoepidermoid								16	71					0	0	0.000958	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439922	150439922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:150439922G>A	ENST00000358647.3	+	3	1062	c.695G>A	c.(694-696)aGa>aAa	p.R232K	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCTCCAAAGAACTGGAGCT	0.587000													22	29					0	0	0.002299	0	0
PRDX6	9588	broad.mit.edu	37	1	173454641	173454641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:173454641C>T	ENST00000340385.5	+	3	526	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	132	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						TGTGACAGCTCGTGTGGTAGG	0.473000													21	47					0	0	0.001882	0	0
KRT83	3889	broad.mit.edu	37	12	52714950	52714950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:52714950C>T	ENST00000293670.3	-	1	232	c.170G>A	c.(169-171)gGg>gAg	p.G57E		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	57	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGAAGCCCCCGCACACGCT	0.741000													8	9					0	0	0.003080	0	0
GTF3C1	2975	broad.mit.edu	37	16	27497466	27497466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:27497466G>A	ENST00000356183.4	-	24	3725	c.3710C>T	c.(3709-3711)cCa>cTa	p.P1237L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1237L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1237						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						TTTTTCTCCTGGGAACTCTCC	0.562000													59	68					0	0	0.003610	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924378	105924378	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:105924378G>A	ENST00000393359.2	-	2	807	c.381C>T	c.(379-381)aaC>aaT	p.N127N	TGFBRAP1_ENST00000258449.1_Silent_p.N127N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	127	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CACTCACAGGGTTCTCGTTCA	0.562000													17	38					0	0	0.001216	0	0
NLRP4	147945	broad.mit.edu	37	19	56370018	56370018	+	Missense_Mutation	SNP	G	G	A	rs142191212	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:56370018G>A	ENST00000301295.6	+	3	1681	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.R345Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.R420Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	420	NACHT.						ATP binding	p.R420Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACGACCTCCGGAGAAATGGG	0.582000													29	24					0	0	0.002836	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331320	100331320	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:100331320G>A	ENST00000341853.1	-	0	2871					NR_003260.1																						GTGCTCACTGGGATTTTGCTC	0.577000													10	39					0	0	0.000978	0	0
TPO	7173	broad.mit.edu	37	2	1488370	1488370	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:1488370C>T	ENST00000345913.4	+	9	1432	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	TPO_ENST00000337415.3_Silent_p.I447I|TPO_ENST00000346956.3_Silent_p.I447I|TPO_ENST00000382201.3_Silent_p.I447I|TPO_ENST00000382198.1_Silent_p.I274I|TPO_ENST00000349624.3_Silent_p.I274I|TPO_ENST00000329066.4_Silent_p.I447I|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	447			I -> F (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCACAGATCATCACCCTGA	0.587000													11	7					0	0	0.000978	0	0
ORAI3	93129	broad.mit.edu	37	16	30964558	30964558	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30964558T>C	ENST00000318663.4	+	2	505	c.281T>C	c.(280-282)cTg>cCg	p.L94P	ORAI3_ENST00000566237.1_Missense_Mutation_p.L94P|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	94						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCACCAGGCCTGCTGGTGGCC	0.597000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	48					0	0	0.000673	0	0
MAP7D2	256714	broad.mit.edu	37	X	20074887	20074887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:20074887C>T	ENST00000379651.3	-	4	413	c.395G>A	c.(394-396)cGc>cAc	p.R132H	MAP7D2_ENST00000452324.3_Missense_Mutation_p.R88H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R132H|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R3H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R132H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	132										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGGGACCGGCGCATCATCGC	0.562000													24	0					0	0	0.005443	0	0
PCCA	5095	broad.mit.edu	37	13	100861600	100861600	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:100861600C>T	ENST00000376285.1	+	7	521	c.483C>T	c.(481-483)gtC>gtT	p.V161V	PCCA_ENST00000376286.4_Silent_p.V135V|PCCA_ENST00000376279.3_Silent_p.V161V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	161	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CAGAAGATGTCGTTTTCATTG	0.383000													45	58					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41100959	41100959	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:41100959T>C	ENST00000373198.3	-	8	1632	c.1397A>G	c.(1396-1398)aAc>aGc	p.N466S	PTPRT_ENST00000356100.2_Missense_Mutation_p.N466S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N466S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N466S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N466S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N466S|PTPRT_ENST00000373184.1_Missense_Mutation_p.N466S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	466	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCTCGGGGTTAGACAGCAA	0.597000													28	33					0	0	0.002096	0	0
C3	718	broad.mit.edu	37	19	6696664	6696664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:6696664C>T	ENST00000245907.6	-	22	2895	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	935					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTCTGATTCCTTCCGGCTAC	0.582000													30	74					0	0	0.002836	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15027838	15027838	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrY:15027838T>C	ENST00000336079.3	+	12	1314	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	DDX3Y_ENST00000360160.4_Missense_Mutation_p.V403A	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	403						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						TTTTTGGCTGTAGGCAGAGTA	0.363000													66	2					0	0	0.003610	0	0
C19orf45	374877	broad.mit.edu	37	19	7573215	7573215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7573215G>A	ENST00000361664.2	+	9	1558	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	473										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCCTCAGGAGGGCTTCGTGCC	0.597000													15	15					0	0	0.004007	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150069	117150069	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117150069G>A	ENST00000310357.3	-	1	129	c.108C>T	c.(106-108)atC>atT	p.I36I	GPRC6A_ENST00000368549.3_Silent_p.I36I|GPRC6A_ENST00000530250.1_Silent_p.I36I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	36					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTCCAATTATGATATGTCCCG	0.428000													23	20					0	0	0.002780	0	0
KLF17	128209	broad.mit.edu	37	1	44595442	44595442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:44595442C>T	ENST00000372299.3	+	2	557	c.499C>T	c.(499-501)Cca>Tca	p.P167S	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	167					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CACTGGAATCCCAATAATGTC	0.577000													9	18					0	0	0.004482	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17067919	17067919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:17067919C>T	ENST00000262096.8	+	10	1575	c.880C>T	c.(880-882)Cca>Tca	p.P294S		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	294						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTGCTCCTTTCCAACTTGCCT	0.383000													25	35					0	0	0.002096	0	0
GPR61	83873	broad.mit.edu	37	1	110085864	110085864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110085864C>T	ENST00000527748.1	+	2	903	c.220C>T	c.(220-222)Cga>Tga	p.R74*	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCTGCCCTCCGAAAATTTGT	0.597000													22	23					0	0	0.002299	0	0
ACE	1636	broad.mit.edu	37	17	61560476	61560476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61560476G>A	ENST00000290866.4	+	9	1453	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R	ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.G477R|ACE_ENST00000584529.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	477	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGGCGCTGGGGGGTCTTTAG	0.532000													21	170					0	0	0.005443	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812903	45812903	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:45812903C>T	ENST00000358525.4	-	6	856	c.741G>A	c.(739-741)caG>caA	p.Q247Q	SLC6A20_ENST00000353278.4_Silent_p.Q210Q|SLC6A20_ENST00000456124.2_Silent_p.Q247Q	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	247					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587000													11	25					0	0	0.000673	0	0
IGSF21	84966	broad.mit.edu	37	1	18702815	18702815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:18702815G>A	ENST00000251296.1	+	7	1410	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	343						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCCCCCAAAGGACCCAAAAT	0.527000													56	42					0	0	0.003610	0	0
ZNF438	220929	broad.mit.edu	37	10	31138274	31138274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:31138274G>A	ENST00000538351.1	-	7	1667	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.Q354*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.Q344*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.Q344*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.Q344*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.Q354*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.Q354*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.Q354*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CAGGCACTCTGCTGTGACACT	0.483000													38	27					0	0	0.005524	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221815	1221815	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1221815G>A	ENST00000304460.10	+	12	1757		c.e12-1			NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19						cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCTCCCCAGGAGGAATTTC	0.587000													10	18					0	0	0.000443	0	0
CCDC158	339965	broad.mit.edu	37	4	77278649	77278649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:77278649C>T	ENST00000388914.3	-	13	2203	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	684										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTTTTGTTTCGGAAATTCCT	0.274000													15	20					0	0	0.003163	0	0
NAGA	4668	broad.mit.edu	37	22	42456379	42456379	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:42456379G>A	ENST00000396398.3	-	9	1672	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	NAGA_ENST00000402937.1_Silent_p.L380L|NAGA_ENST00000403363.1_Silent_p.L380L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	380					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTTCATCTCGGAGGCCACTGA	0.567000													35	36					0	0	0.001287	0	0
HRNR	388697	broad.mit.edu	37	1	152190978	152190978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152190978C>T	ENST00000368801.2	-	3	3202	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1043					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGGAGCCAGACTCATAT	0.577000													81	87					0	0	0.003610	0	0
SPTB	6710	broad.mit.edu	37	14	65270481	65270481	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:65270481C>T	ENST00000389722.3	-	3	371	c.318G>A	c.(316-318)ggG>ggA	p.G106G	SPTB_ENST00000389720.3_Silent_p.G106G|SPTB_ENST00000389721.5_Silent_p.G106G|SPTB_ENST00000542895.1_Silent_p.G106G|SPTB_ENST00000556626.1_Silent_p.G106G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	106	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGCATCTTCCCCTTGGTGG	0.607000													6	8					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126239214	126239214	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:126239214C>T	ENST00000394329.3	+	1	1661	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	550	Cadherin 5.				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						CCAGATTGTTCTGAATATAAG	0.517000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	15					0	0	0.004990	0	0
RNF145	153830	broad.mit.edu	37	5	158588571	158588571	+	Silent	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:158588571T>G	ENST00000424310.2	-	10	1688	c.1329A>C	c.(1327-1329)ccA>ccC	p.P443P	RNF145_ENST00000521606.2_Silent_p.P460P|RNF145_ENST00000274542.2_Silent_p.P471P|RNF145_ENST00000520638.1_Silent_p.P457P|RNF145_ENST00000518802.1_Silent_p.P473P|RNF145_ENST00000519865.1_Silent_p.P443P|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	443						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)			TGTTTTCCACTGGCTCTTTTC	0.398000													22	8					0	0	0.001523	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554410	85554410	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:85554410C>T	ENST00000393217.2	+	24	4801	c.4740C>T	c.(4738-4740)gcC>gcT	p.A1580A	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1580										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)		TGCGTCTAGCCTTATTCAAAA	0.353000													33	17					0	0	0.004289	0	0
NAGA	4668	broad.mit.edu	37	22	42456378	42456378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:42456378G>A	ENST00000396398.3	-	9	1673	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NAGA_ENST00000402937.1_Nonsense_Mutation_p.R381*|NAGA_ENST00000403363.1_Nonsense_Mutation_p.R381*	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	381					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GTTTCATCTCGGAGGCCACTG	0.567000													34	36					0	0	0.005524	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:18829843C>T	ENST00000380548.4	+	23	4456	c.4117C>T	c.(4117-4119)Ccc>Tcc	p.P1373S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.P74S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1373						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCACAGATCCCCCCCAAGT	0.567000													23	3					0	0	0.001271	0	0
ZNF709	163051	broad.mit.edu	37	19	12575099	12575099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:12575099G>A	ENST00000397732.3	-	4	1808	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	ZNF709_ENST00000428311.1_Missense_Mutation_p.S546F|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TATTCGAATGGAACTGGAACA	0.418000													55	57					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179594940	179594940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179594940C>T	ENST00000589042.1	-	62	18411	c.18187G>A	c.(18187-18189)Gat>Aat	p.D6063N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5746N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4819N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5746	Ig-like 41.						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)			GAGGTGTCATCCTTCCAAACT	0.468000													12	19					0	0	0.004990	0	0
QRFPR	84109	broad.mit.edu	37	4	122250603	122250603	+	Missense_Mutation	SNP	C	C	T	rs145398896	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:122250603C>T	ENST00000394427.2	-	6	1573	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	388						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AATGCTTCTCCTTTGGTTTCC	0.423000													81	108					0	0	0.003610	0	0
SLC12A2	6558	broad.mit.edu	37	5	127516636	127516636	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:127516636C>T	ENST00000262461.2	+	23	3351	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I	SLC12A2_ENST00000343225.4_Silent_p.I1038I|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1054					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)	ACTGTAAGATCAGAGTATTCA	0.338000													48	103					0	0	0.003610	0	0
RBMX	27316	broad.mit.edu	37	X	135957686	135957686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135957686G>A	ENST00000431446.3	-	4	429	c.275C>T	c.(274-276)cCt>cTt	p.P92L	RBMX_ENST00000565438.1_Silent_p.P72P|RBMX_ENST00000320676.7_Silent_p.P200P|RBMX_ENST00000570135.1_Silent_p.P65P|RBMX_ENST00000562646.1_Silent_p.P200P	NM_001164803.1	NP_001158275.1	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	0						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTCTACGAGAGGGCAGCGGTT	0.373000													46	0					0	0	0.003610	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28279788	28279788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:28279788G>A	ENST00000373894.3	+	4	627	c.436G>A	c.(436-438)Gga>Aga	p.G146R	SMPDL3B_ENST00000549094.1_Intron|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.G146R	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	146					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GTTCCCAGCTGGAAGTAACAA	0.398000													9	27					0	0	0.000978	0	0
URB2	9816	broad.mit.edu	37	1	229771705	229771705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:229771705C>T	ENST00000258243.2	+	4	1481	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	449						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAAAAAGCCCAGGAGGCGCT	0.502000													40	49					0	0	0.002522	0	0
CSMD1	64478	broad.mit.edu	37	8	2815238	2815238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:2815238C>T	ENST00000520002.1	-	64	10352	c.9797G>A	c.(9796-9798)gGg>gAg	p.G3266E	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3089E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3089E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3266E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3088E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3265E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3266	Sushi 27.					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)		GGTCTGTATCCCACTCCATGT	0.448000													6	10					0	0	0.004482	0	0
TRIM35	23087	broad.mit.edu	37	8	27145562	27145562	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27145562G>A	ENST00000305364.4	-	6	1070	c.987C>T	c.(985-987)taC>taT	p.Y329Y	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	329	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCTGCACGCGGTAGCCATGGT	0.652000													13	21					0	0	0.004007	0	0
MIER2	54531	broad.mit.edu	37	19	327918	327918	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:327918C>T	ENST00000264819.4	-	4	325	c.315G>A	c.(313-315)cgG>cgA	p.R105R	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	105					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)		CCTCACTCTCCCGGTCTGAAA	0.592000													10	15					0	0	0.000673	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825278	43825278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:43825278C>T	ENST00000389420.3	-	22	3117	c.3118G>A	c.(3118-3120)Gga>Aga	p.G1040R	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G194R|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G1040R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1040	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTTTGTTCCTTTACCACAT	0.383000													43	87					0	0	0.003610	0	0
ZBBX	79740	broad.mit.edu	37	3	167031835	167031835	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:167031835G>A	ENST00000392766.2	-	16	1684	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ZBBX_ENST00000392764.1_Silent_p.F419F|ZBBX_ENST00000392767.2_Silent_p.F448F|ZBBX_ENST00000307529.5_Silent_p.F448F|ZBBX_ENST00000455345.2_Silent_p.F448F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	448						intracellular	zinc ion binding			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						TTCCCTTATCGAAAACATGAT	0.313000													33	111					0	0	0.002836	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306296	38306296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38306296C>T	ENST00000374618.3	+	4	410	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ZNF33A_ENST00000307441.9_Missense_Mutation_p.P78S|ZNF33A_ENST00000458705.2_Missense_Mutation_p.P78S|ZNF33A_ENST00000432900.2_Missense_Mutation_p.P85S|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.P78S	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	78	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAAGAATTCCCAAGCCAAAG	0.428000													30	86					0	0	0.002836	0	0
CD177	57126	broad.mit.edu	37	19	43859878	43859878	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43859878G>A	ENST00000378009.4	+	0	487				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)				GACAACAGAAGAGATCTGCCC	0.577000													10	33					0	0	0.000673	0	0
STAU1	6780	broad.mit.edu	37	20	47734358	47734358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:47734358G>A	ENST00000371828.3	-	11	1727	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	STAU1_ENST00000340954.7_Missense_Mutation_p.P408S|STAU1_ENST00000371856.2_Missense_Mutation_p.P489S|STAU1_ENST00000371792.1_Missense_Mutation_p.P406S|STAU1_ENST00000371802.1_Missense_Mutation_p.P414S|STAU1_ENST00000347458.5_Missense_Mutation_p.P408S|STAU1_ENST00000360426.4_Missense_Mutation_p.P408S	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	489						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGCTCAGAGGGTCTCGTGAGA	0.537000													9	38					0	0	0.004482	0	0
GJD2	57369	broad.mit.edu	37	15	35045085	35045085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:35045085G>A	ENST00000290374.4	-	2	1036	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	187					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)		TCTGAGCTTGGATTTTGATGC	0.488000													41	54					0	0	0.001951	0	0
LRRC17	10234	broad.mit.edu	37	7	102584759	102584759	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:102584759T>G	ENST00000339431.4	+	4	1326	c.1031T>G	c.(1030-1032)cTc>cGc	p.L344R	LRRC17_ENST00000249377.4_3'UTR|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	344					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTTTTGAAACTCTTGTGGCTC	0.373000													43	64					0	0	0.002522	0	0
ADAM9	8754	broad.mit.edu	37	8	38899581	38899581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:38899581C>T	ENST00000487273.2	+	12	1325	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	416	Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTGCTCCCTCCTGTGGTAAT	0.413000													49	36					0	0	0.003610	0	0
DOCK4	9732	broad.mit.edu	37	7	111430618	111430618	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:111430618G>A	ENST00000428084.1	-	31	3482	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	DOCK4_ENST00000437633.1_Silent_p.F1070F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1070					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCACTTCTAGGAAGGGGCCAA	0.403000													11	23					0	0	0.001368	0	0
LOC644669	644669	broad.mit.edu	37	18	15316654	15316654	+	RNA	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:15316654A>G	ENST00000455308.2	-	0	769					NR_027417.1																						TTTGAAGAGGAATTCACTGTA	0.403000													4	0					0	0	0.000602	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121776	117121776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:117121776C>T	ENST00000310357.3	-	4	1540	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E332K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	507					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTTTTGTTTCCTGATCTGGG	0.423000													52	65					0	0	0.003610	0	0
LIMCH1	22998	broad.mit.edu	37	4	41663489	41663489	+	Missense_Mutation	SNP	G	G	A	rs139738687		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:41663489G>A	ENST00000313860.7	+	14	1988	c.1934G>A	c.(1933-1935)gGa>gAa	p.G645E	LIMCH1_ENST00000381753.4_Missense_Mutation_p.G479E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G491E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G486E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G486E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1030E|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G474E|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G479E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G633E|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G645E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G645E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G645E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	645					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AATGATGGTGGAAAATCAAGA	0.353000											OREG0016170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					0	0	0.003080	0	0
CXCR4	7852	broad.mit.edu	37	2	136875622	136875622	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:136875622C>T	ENST00000241393.3	-	1	113	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	3	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TTACACTGATCCCCTCCATGG	0.552000													11	10					0	0	0.001368	0	0
OR2F1	26211	broad.mit.edu	37	7	143657918	143657918	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:143657918G>A	ENST00000392899.1	+	1	892	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	285					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)					CACCAATGCTGAACCCCATGA	0.453000													23	34					0	0	0.003330	0	0
TPH2	121278	broad.mit.edu	37	12	72425098	72425098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72425098G>A	ENST00000333850.3	+	10	1366	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	409					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTGCTTACAGGAATGCCTTAT	0.403000													20	66					0	0	0.001216	0	0
RND2	8153	broad.mit.edu	37	17	41177998	41177998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:41177998G>A	ENST00000544533.1	+	2	231	c.124G>A	c.(124-126)Gag>Aag	p.E42K	RND2_ENST00000587250.2_Missense_Mutation_p.E42K	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	42					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCGTGTTTGAGAACTACAC	0.542000													26	28					0	0	0.001512	0	0
VIL1	7429	broad.mit.edu	37	2	219313997	219313997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219313997G>A	ENST00000248444.5	+	20	2510	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	VIL1_ENST00000392114.2_Missense_Mutation_p.A497T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	808	HP.|Headpiece.				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)		GACTCCAGCTGCCTTCTCTGC	0.478000													97	67					0	0	0.003610	0	0
MR1	3140	broad.mit.edu	37	1	181018307	181018307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:181018307C>T	ENST00000367580.5	+	2	192	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	MR1_ENST00000434571.2_Missense_Mutation_p.R63W|MR1_ENST00000282990.6_Missense_Mutation_p.R63W|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.R63W	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	63	Alpha-1.|Ligand-binding.		R -> Q (in dbSNP:rs3897433).		antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CAGTGTCACTCGGCAGAAGGA	0.572000													13	12					0	0	0.002450	0	0
CRYZ	1429	broad.mit.edu	37	1	75172857	75172857	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:75172857A>G	ENST00000417775.1	-	8	1166	c.662T>C	c.(661-663)aTt>aCt	p.I221T	CRYZ_ENST00000370872.3_Missense_Mutation_p.I84T|CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000340866.5_Missense_Mutation_p.I221T	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	221					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CATTTCAATAATTATATCAAT	0.284000													27	59					0	0	0.001786	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272769	81272769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:81272769G>A	ENST00000520547.2	+	1	413	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	122					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	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)			CCTTGGCAAGGAGATTGAGCA	0.547000													16	64					0	0	0.004007	0	0
HGS	9146	broad.mit.edu	37	17	79662044	79662044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:79662044G>A	ENST00000329138.4	+	13	1201	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	356	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCCCCTGACGGAGCCGGCTGC	0.667000													8	41					0	0	0.003080	0	0
ZNF721	170960	broad.mit.edu	37	4	437781	437781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:437781G>A	ENST00000338977.5	-	2	487	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	ZNF721_ENST00000511833.2_Missense_Mutation_p.H159Y|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTCCAGTATGAATTTTCTTG	0.393000													37	127					0	0	0.004878	0	0
MUC17	140453	broad.mit.edu	37	7	100682048	100682048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100682048C>T	ENST00000306151.4	+	3	7415	c.7351C>T	c.(7351-7353)Cct>Tct	p.P2451S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2451	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)					AACCTCACCTCCTAGTGAAGG	0.532000													96	275					0	0	0.003610	0	0
TBCD	6904	broad.mit.edu	37	17	80758854	80758854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:80758854C>T	ENST00000355528.4	+	9	1062	c.932C>T	c.(931-933)cCg>cTg	p.P311L	TBCD_ENST00000539345.2_Missense_Mutation_p.P311L|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	311					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTCCTGAAGCCGAAGGTGGCA	0.662000													24	15					0	0	0.003330	0	0
EPN3	55040	broad.mit.edu	37	17	48613881	48613881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:48613881G>A	ENST00000537145.1	+	2	348	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000268933.3_5'UTR			Q9H201	EPN3_HUMAN	epsin 3	207	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCACCTCCGGCGGGGGCGAG	0.637000													10	32					0	0	0.000673	0	0
CARD14	79092	broad.mit.edu	37	17	78162266	78162266	+	Missense_Mutation	SNP	G	G	A	rs144570537		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:78162266G>A	ENST00000573882.1	+	7	1302	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CARD14_ENST00000570421.1_Missense_Mutation_p.D256N|CARD14_ENST00000392434.2_Missense_Mutation_p.D19N|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.D256N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	256					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACAGCCAGCGACCAGGAGTC	0.592000													5	47					0	0	0.001168	0	0
CDH16	1014	broad.mit.edu	37	16	66946255	66946255	+	Missense_Mutation	SNP	C	C	T	rs147611353		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:66946255C>T	ENST00000299752.4	-	12	1631	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	CDH16_ENST00000565796.1_Missense_Mutation_p.E480K|CDH16_ENST00000568632.1_Missense_Mutation_p.E383K|CDH16_ENST00000570262.1_Missense_Mutation_p.E400K|CDH16_ENST00000394055.3_Missense_Mutation_p.E480K	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	480	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)		AAGGCGGGCTCGAGGTCAGCA	0.577000													23	32					0	0	0.004656	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400739	11400739	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:11400739G>A	ENST00000002596.5	-	2	2065	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	297						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CAACAAGCTCGAAGAACTTCT	0.443000													48	49					0	0	0.003610	0	0
PUS1	80324	broad.mit.edu	37	12	132426450	132426450	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:132426450C>T	ENST00000542167.2	+	4	1752	c.999C>T	c.(997-999)tcC>tcT	p.S333S	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Silent_p.S358S|PUS1_ENST00000376649.3_Silent_p.S386S|PUS1_ENST00000440818.2_Silent_p.S358S			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	386						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		ACGAACGCTCCATGGCCCAGT	0.642000													8	16					0	0	0.003080	0	0
CSF3R	1441	broad.mit.edu	37	1	36945039	36945039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36945039G>A	ENST00000373103.1	-	3	606	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CSF3R_ENST00000331941.5_Missense_Mutation_p.P20L|CSF3R_ENST00000373104.1_Missense_Mutation_p.P20L|CSF3R_ENST00000373106.1_Missense_Mutation_p.P20L|CSF3R_ENST00000418048.2_Missense_Mutation_p.P20L|CSF3R_ENST00000361632.4_Missense_Mutation_p.P20L|CSF3R_ENST00000338937.5_Missense_Mutation_p.P20L|CSF3R_ENST00000440588.2_Missense_Mutation_p.P20L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	20					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCACTTCCGGGGAGCAGCAG	0.542000													4	19					0	0	0.000602	0	0
ICOSLG	23308	broad.mit.edu	37	21	45657027	45657027	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:45657027G>A	ENST00000407780.3	-	3	256	c.129C>T	c.(127-129)agC>agT	p.S43S	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.S43S|ICOSLG_ENST00000344330.4_Silent_p.S43S			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	43	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AATCAAAACGGCTTCCTTCAG	0.498000													14	58					0	0	0.001855	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222527	140222527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140222527G>A	ENST00000531613.1	+	1	1621	c.1621G>A	c.(1621-1623)Ggc>Agc	p.G541S	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G541S|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGACGCGGGCGTGCCGCC	0.677000													18	54					0	0	0.006122	0	0
MYL6B	140465	broad.mit.edu	37	12	56548888	56548888	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:56548888C>T	ENST00000553066.1	+	4	674	c.252C>T	c.(250-252)atC>atT	p.I84I	RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000552568.1_Silent_p.I84I|MYL6B_ENST00000550443.1_Silent_p.I84I|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000207437.5_Silent_p.I84I			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	84	EF-hand 1.				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ATGGCAAGATCCTGTACAGCC	0.577000													42	50					0	0	0.002522	0	0
NEK7	140609	broad.mit.edu	37	1	198225458	198225458	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:198225458G>A	ENST00000367383.1	+	4	383	c.198_splice	c.e4-1	p.V67_splice	NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron			Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	67	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TTTCCTGCAGGTTTGCCTGTT	0.433000													18	36					0	0	0.001216	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95576272	95576272	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:95576272G>A	ENST00000473204.1	+	0	715																											ATAATAAGGGGACTTCACTGG	0.393000													18	18					0	0	0.004990	0	0
KLF6	1316	broad.mit.edu	37	10	3822344	3822344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:3822344G>A	ENST00000497571.1	-	3	1014	c.754C>T	c.(754-756)Cga>Tga	p.R252*	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	252					B cell differentiation	nucleus	zinc ion binding	p.R252*(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTGTGCTTTCGGAAGTGCCTG	0.542000													25	19					0	0	0.005443	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363000													40	107					0	0	0.001706	0	0
LRP1B	53353	broad.mit.edu	37	2	141747170	141747170	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141747170T>A	ENST00000389484.3	-	17	3672	c.2701A>T	c.(2701-2703)Aag>Tag	p.K901*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	901	LDL-receptor class A 4.				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)		AGCCATCTCTTGGGGATGCAG	0.408000										TSP Lung(27;0.18)			28	39					0	0	0.001271	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671372	112671372	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:112671372G>A	ENST00000441065.2	+	3	774	c.462G>A	c.(460-462)gaG>gaA	p.E154E		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	154	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTGGGAGAGGTGAAGTCAT	0.552000													34	25					0	0	0.005524	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048186	102048186	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:102048186G>A	ENST00000318222.3	-	16	2767	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	PKD2L1_ENST00000338519.3_Silent_p.S720S|PKD2L1_ENST00000353274.3_3'UTR	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	795					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCTCACCACGGGAGAGTCTCC	0.517000													48	58					0	0	0.003610	0	0
LY9	4063	broad.mit.edu	37	1	160788049	160788049	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:160788049A>C	ENST00000263285.5	+	6	1414	c.1384A>C	c.(1384-1386)Atg>Ctg	p.M462L	LY9_ENST00000368041.2_Missense_Mutation_p.M332L|LY9_ENST00000368035.1_Missense_Mutation_p.M114L|LY9_ENST00000368040.1_Missense_Mutation_p.M114L|LY9_ENST00000341032.4_Missense_Mutation_p.M372L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	462					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTTCCTGATGGTTTGCCT	0.468000													22	38					0	0	0.003954	0	0
AGO1	26523	broad.mit.edu	37	1	36379561	36379561	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:36379561C>T	ENST00000373204.4	+	13	1914	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	AGO1_ENST00000373206.1_Silent_p.V492V	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		AGATCAATGTCAAACTTGGTG	0.493000													12	49					0	0	0.000978	0	0
COL6A3	1293	broad.mit.edu	37	2	238277279	238277279	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:238277279G>A	ENST00000295550.4	-	10	5279	c.4827C>T	c.(4825-4827)atC>atT	p.I1609I	COL6A3_ENST00000353578.4_Silent_p.I1403I|COL6A3_ENST00000347401.3_Silent_p.I1408I|COL6A3_ENST00000346358.4_Silent_p.I1409I|COL6A3_ENST00000409809.1_Silent_p.I1403I|COL6A3_ENST00000472056.1_Silent_p.I1002I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1609	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGAGTTCATGATTCTTTCTT	0.552000													20	39					0	0	0.000958	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352764	117352764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:117352764C>T	ENST00000321322.6	-	12	2654	c.2653G>A	c.(2653-2655)Ggg>Agg	p.G885R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G615R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	825	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G885W(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTGTGTCCCCCTTCTCCCAG	0.627000													12	1					0	0	0.001368	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702047	187702047	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:187702047C>T	ENST00000295131.2	-	5	768	c.729G>A	c.(727-729)gaG>gaA	p.E243E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	243					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AACACTTCCCCTCAATTGGAA	0.358000													15	37					0	0	0.004990	0	0
FAM179B	23116	broad.mit.edu	37	14	45537771	45537771	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:45537771A>T	ENST00000361462.2	+	18	5077	c.4894A>T	c.(4894-4896)Aac>Tac	p.N1632Y	FAM179B_ENST00000361577.3_Missense_Mutation_p.N1579Y|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1579							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATAGTGGATAACAATCTGAA	0.408000													25	31					0	0	0.004656	0	0
OR13C2	392376	broad.mit.edu	37	9	107367878	107367878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:107367878C>T	ENST00000542196.1	-	1	73	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGAAAAAATTCCACCAGAATG	0.373000													24	25					0	0	0.005443	0	0
PRMT5	10419	broad.mit.edu	37	14	23395486	23395486	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:23395486G>A	ENST00000324366.8	-	7	856	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PRMT5_ENST00000538452.1_Silent_p.D105D|PRMT5_ENST00000397441.2_Silent_p.D194D|PRMT5_ENST00000216350.8_Silent_p.D150D|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Silent_p.D167D|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	211					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TAGATGGGAGGTCAGCCCCAA	0.473000													33	49					0	0	0.002445	0	0
CCNT1	904	broad.mit.edu	37	12	49087904	49087904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:49087904G>A	ENST00000261900.3	-	9	1315	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	365					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCATCCTGTGGTAAGGAATGA	0.448000													25	62					0	0	0.004656	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772878	140772878	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140772878C>T	ENST00000398604.2	+	1	498	c.498C>T	c.(496-498)tcC>tcT	p.S166S	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGAACTCCCTCCAGAGCT	0.557000													17	30					0	0	0.001216	0	0
USP53	54532	broad.mit.edu	37	4	120177660	120177660	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:120177660T>A	ENST00000450251.1	+	5	1095	c.551T>A	c.(550-552)aTt>aAt	p.I184N	USP53_ENST00000274030.6_Missense_Mutation_p.I184N			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	184					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTGCGGTACATTTCTACAACA	0.318000													41	40					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57766405	57766405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:57766405C>T	ENST00000371030.2	+	1	331	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	111	Pro-rich.					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)					GCCGGCGGCCCCTACGCTGAC	0.687000													4	6					0	0	0.000248	0	0
SBNO1	55206	broad.mit.edu	37	12	123801828	123801828	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:123801828G>C	ENST00000420886.2	-	20	2874	c.2875C>G	c.(2875-2877)Cga>Gga	p.R959G	SBNO1_ENST00000267176.4_Missense_Mutation_p.R958G|SBNO1_ENST00000602750.1_Missense_Mutation_p.R958G|SBNO1_ENST00000602398.1_Missense_Mutation_p.R959G	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	959							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)		TGAACTCTTCGCCTTTGATTT	0.368000													15	56					0	0	0.003163	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51656392	51656392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:51656392G>A	ENST00000317643.6	+	7	1363	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E339K|SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	432					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGGGGAGGAAAGAGAGAT	0.532000													35	31					0	0	0.004289	0	0
LINC00518	221718	broad.mit.edu	37	6	10429936	10429936	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:10429936G>A	ENST00000496285.1	-	0	1099					NR_027793.1																						CCACAAAAAAGAAAAAGAAGC	0.353000													4	1					0	0	0.000248	0	0
ZFX	7543	broad.mit.edu	37	X	24229455	24229455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:24229455C>T	ENST00000379177.1	+	11	2807	c.2380C>T	c.(2380-2382)Cac>Tac	p.H794Y	ZFX_ENST00000539115.1_Missense_Mutation_p.H565Y|ZFX_ENST00000540034.1_Missense_Mutation_p.H833Y|ZFX_ENST00000304543.5_Missense_Mutation_p.H794Y|ZFX_ENST00000338565.3_Missense_Mutation_p.H744Y|ZFX_ENST00000379188.3_Missense_Mutation_p.H794Y	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGAACCAGCACATAATGCG	0.418000													30	0					0	0	0.001512	0	0
TACC2	10579	broad.mit.edu	37	10	123843060	123843060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:123843060G>A	ENST00000369005.1	+	4	1385	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.G349S|TACC2_ENST00000453444.2_Missense_Mutation_p.G349S|TACC2_ENST00000515603.1_Missense_Mutation_p.G349S|TACC2_ENST00000334433.3_Missense_Mutation_p.G349S|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	349						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)				GCTGCCCTGGGGCTTGCCAAG	0.632000													15	17					0	0	0.004990	0	0
SLC38A10	124565	broad.mit.edu	37	17	79244725	79244725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:79244725G>A	ENST00000374759.3	-	10	1507	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.S375F	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	375					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCTGGGAGGAAAGTGCGTT	0.617000													10	29					0	0	0.001855	0	0
MECOM	2122	broad.mit.edu	37	3	168833510	168833510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:168833510G>A	ENST00000464456.1	-	7	2786	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	MECOM_ENST00000494292.1_Missense_Mutation_p.S717L|MECOM_ENST00000468789.1_Missense_Mutation_p.S529L|MECOM_ENST00000264674.3_Missense_Mutation_p.S594L|MECOM_ENST00000472280.1_Missense_Mutation_p.S530L|MECOM_ENST00000433243.2_Missense_Mutation_p.S530L|MECOM_ENST00000392736.3_Missense_Mutation_p.S529L|MECOM_ENST00000460814.1_Missense_Mutation_p.S529L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAAGGTAACGATCTCAAGTC	0.438000													30	21					0	0	0.001061	0	0
HMCN1	83872	broad.mit.edu	37	1	186064617	186064617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:186064617G>A	ENST00000271588.4	+	68	10766	c.10537G>A	c.(10537-10539)Gga>Aga	p.G3513R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3513R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3513	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGAAGCTGGAGAAGTCAG	0.428000													19	32					0	0	0.001882	0	0
BAGE2	85319	broad.mit.edu	37	21	11038972	11038972	+	RNA	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:11038972T>G	ENST00000470054.1	-	0	1231									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)		CTGTCTCAGATGATAACTTTA	0.418000													33	426					0	0	0.003755	0	0
CSMD2	114784	broad.mit.edu	37	1	34035099	34035099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:34035099C>T	ENST00000373381.4	-	52	8182	c.8006G>A	c.(8005-8007)gGa>gAa	p.G2669E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2671	Sushi 17.					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)				AGACAGTGTTCCGATGCGGTG	0.572000													12	19					0	0	0.001855	0	0
ICA1L	130026	broad.mit.edu	37	2	203693696	203693696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:203693696G>A	ENST00000392237.2	-	3	194	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.Q13*|ICA1L_ENST00000418208.1_Nonsense_Mutation_p.Q13*|ICA1L_ENST00000425178.1_Nonsense_Mutation_p.Q13*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	13										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTACTGACTGATTATCTTCT	0.378000													220	124					0	0	0.003610	0	0
SOX9	6662	broad.mit.edu	37	17	70118998	70118998	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:70118998G>A	ENST00000245479.2	+	2	942	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	190					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGGAGGCAGAGGAGGCCACGG	0.667000													31	37					0	0	0.001786	0	0
GPR156	165829	broad.mit.edu	37	3	119886636	119886636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:119886636G>A	ENST00000464295.1	-	10	2133	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	GPR156_ENST00000315843.3_Missense_Mutation_p.S563F|GPR156_ENST00000461057.1_Missense_Mutation_p.S559F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	563						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)		GGTGGAGAGGGAAGCCTCAGG	0.582000													31	30					0	0	0.001786	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197376	26197376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:26197376C>T	ENST00000377831.5	-	2	556	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.G35S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	35					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TTCTTCACGCCGCCGGTGGCT	0.652000													19	45					0	0	0.000958	0	0
AGGF1	55109	broad.mit.edu	37	5	76342421	76342421	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:76342421A>G	ENST00000312916.7	+	6	1502	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	374					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGGTGAAATTACAGACTCTCA	0.368000													192	101					0	0	0.003610	0	0
ARMC3	219681	broad.mit.edu	37	10	23235172	23235172	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:23235172T>A	ENST00000298032.5	+	3	232	c.148T>A	c.(148-150)Tat>Aat	p.Y50N	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.Y50N|ARMC3_ENST00000409049.3_Missense_Mutation_p.Y50N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	50							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAGCCATTTATAAATTTGC	0.313000													17	89					0	0	0.006122	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524750	10524750	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:10524750C>A	ENST00000396560.2	+	3	500	c.273C>A	c.(271-273)ttC>ttA	p.F91L	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.F91L|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.F91L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.F91L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.F91L(1)		large_intestine(3)	3						GTAAAGTATTCTCTCAGAATT	0.333000													21	23					2.89027e-11	4.99686e-11	0.002299	1	0
KIAA1468	57614	broad.mit.edu	37	18	59954692	59954692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:59954692C>T	ENST00000256858.6	+	27	3712	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	KIAA1468_ENST00000398130.2_Missense_Mutation_p.S1121F			Q9P260	K1468_HUMAN	KIAA1468	1121							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTGCACTTTCCTGTTGTTGT	0.358000													22	39					0	0	0.004656	0	0
NDNF	79625	broad.mit.edu	37	4	121957664	121957664	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:121957664T>G	ENST00000379692.4	-	4	1988	c.1462A>C	c.(1462-1464)Aac>Cac	p.N488H		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	488	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCATTGTAGTTATCATCCACT	0.428000													34	43					0	0	0.002836	0	0
OR4X1	390113	broad.mit.edu	37	11	48286156	48286156	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:48286156C>T	ENST00000320048.1	+	1	744	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCGACCTGTTCTTCATACCTT	0.507000													47	5					0	0	0.003610	0	0
CRTC3	64784	broad.mit.edu	37	15	91147627	91147627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:91147627C>T	ENST00000420329.2	+	5	571	c.424C>T	c.(424-426)Cct>Tct	p.P142S	CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000268184.6_Missense_Mutation_p.P142S	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCTCCTTGGAAAGA	0.438000			T	MAML2	salivary gland mucoepidermoid								16	69					0	0	0.000958	0	0
WDR59	79726	broad.mit.edu	37	16	74949875	74949875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:74949875G>A	ENST00000262144.6	-	13	1247	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	373										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATTTCTAGGGGGATCTTCT	0.458000													24	24					0	0	0.005443	0	0
DMGDH	29958	broad.mit.edu	37	5	78329201	78329201	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:78329201C>T	ENST00000255189.3	-	8	1252	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	DMGDH_ENST00000380311.4_Silent_p.G207G|DMGDH_ENST00000540686.1_Silent_p.G28G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	408					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGAGATATTTCCCTACCCCAC	0.398000													23	39					0	0	0.003954	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:123742403G>A	ENST00000223642.1	-	28	3645	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1206					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)	ACAATTGAACGAAACTGTGGG	0.408000													11	49					0	0	0.000673	0	0
ABCC6	368	broad.mit.edu	37	16	16267254	16267254	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:16267254T>A	ENST00000205557.7	-	21	2703	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	892					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)		GGGACTGACTTGATGGACCTG	0.537000													30	28					0	0	0.002836	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635377	64635377	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:64635377A>C	ENST00000498707.1	-	10	1883	c.1541T>G	c.(1540-1542)cTt>cGt	p.L514R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L486R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	514	Disintegrin.				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)		CACGTTGTAAAGGATGCCTGG	0.468000													181	284					0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135432542	135432542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:135432542C>T	ENST00000394143.1	+	6	6968	c.6677C>T	c.(6676-6678)tCc>tTc	p.S2226F	GPR112_ENST00000412101.1_Missense_Mutation_p.S2021F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2021F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2226F|GPR112_ENST00000287534.4_Missense_Mutation_p.S2163F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2226					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCACACCTTCCTTTCTATCT	0.463000													46	1					0	0	0.003610	0	0
LRRC66	339977	broad.mit.edu	37	4	52861881	52861881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:52861881G>A	ENST00000343457.3	-	4	1313	c.1307C>T	c.(1306-1308)cCa>cTa	p.P436L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	436						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						CTCTGGGTGTGGTGTGTGCCC	0.552000													38	42					0	0	0.001287	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564920	33564920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:33564920C>T	ENST00000321505.4	+	1	1100	c.920C>T	c.(919-921)aCc>aTc	p.T307I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T307I|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T307I					KIAA1549-like																		GATTTCAGCACCGGTAGTGTC	0.473000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	96					0	0	0.003755	0	0
MICU1	10367	broad.mit.edu	37	10	74326472	74326472	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:74326472A>C	ENST00000398761.4	-	2	212	c.80T>G	c.(79-81)aTc>aGc	p.I27S	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000361114.5_Missense_Mutation_p.I27S|MICU1_ENST00000401998.3_Missense_Mutation_p.I27S			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	27					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										CCGGATCTGGATGGGCTGTGA	0.483000													6	7					0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38906668	38906668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:38906668G>A	ENST00000359357.3	+	77	11514	c.11260G>A	c.(11260-11262)Gaa>Aaa	p.E3754K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3718K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3971K|RP1-207H1.3_ENST00000416948.1_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						AGGCCTATACGAAAACCACAA	0.373000													13	37					0	0	0.001855	0	0
PSG7	5676	broad.mit.edu	37	19	43429951	43429951	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:43429951G>A	ENST00000446844.3	-	0	1306				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CACGGATTTGGAGCTTTCCTT	0.473000													144	42					0	0	0.003610	0	0
ASMT	438	broad.mit.edu	37	X	1742086	1742086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:1742086G>A	ENST00000381241.3	+	2	323	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	ASMT_ENST00000381233.3_Missense_Mutation_p.G42R|ASMT_ENST00000381229.4_Missense_Mutation_p.G42R	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	42					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				CGAGGCCCCAGGGCCCCTGGA	0.642000													28	20					0	0	0.001061	0	0
CD248	57124	broad.mit.edu	37	11	66082377	66082377	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:66082377C>A	ENST00000311330.3	-	1	2138	c.2122G>T	c.(2122-2124)Gtg>Ttg	p.V708L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	708						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGCAGTACACGATGCCCAGT	0.602000													5	7					0.00116845	0.00200002	0.001168	1	0
ZNF781	163115	broad.mit.edu	37	19	38160067	38160067	+	Nonstop_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:38160067T>G	ENST00000358582.4	-	4	1731	c.983A>C	c.(982-984)tAa>tCa	p.*328S	ZNF781_ENST00000590008.1_Nonstop_Mutation_p.*328S|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GATGTCTCATTAGATGTGCAT	0.363000													34	67					0	0	0.003755	0	0
ZNF182	7569	broad.mit.edu	37	X	47835805	47835805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:47835805G>A	ENST00000396965.1	-	7	2031	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	ZNF182_ENST00000376943.3_Nonsense_Mutation_p.Q542*|ZNF182_ENST00000305127.6_Nonsense_Mutation_p.Q561*	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	561					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						TGCGTTCTCTGATGTATTATG	0.423000													33	0					0	0	0.002836	0	0
NCOR2	9612	broad.mit.edu	37	12	124821437	124821437	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124821437G>C	ENST00000356219.3	-	39	6153	c.5998C>G	c.(5998-6000)Cgc>Ggc	p.R2000G	NCOR2_ENST00000404121.2_Missense_Mutation_p.R1554G|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1984G|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1983G|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1993G|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1983G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2004					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)		GCAGGGGTGCGGGCGATGGTG	0.731000													3	6					0	0	0.004672	0	0
KEL	3792	broad.mit.edu	37	7	142650996	142650996	+	Silent	SNP	G	G	A	rs8175995	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:142650996G>A	ENST00000355265.2	-	9	1446	c.972C>T	c.(970-972)ttC>ttT	p.F324F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	324					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATCGGTGTGAATGTCGCTT	0.522000													24	73					0	0	0.004656	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625336	56625336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:56625336C>T	ENST00000266980.4	+	2	571	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S93F	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	93					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGACAATTCCACACACAGG	0.632000													15	27					0	0	0.004007	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856890	62856890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:62856890G>A	ENST00000584306.1	-	11	3904	c.3374C>T	c.(3373-3375)cCt>cTt	p.P1125L	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.P243L|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P1125L|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.P102L|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.P163L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1125						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGAAATAAGGTAAGATGTA	0.453000													93	281					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38831663	38831663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:38831663G>A	ENST00000359357.3	+	43	5928	c.5674G>A	c.(5674-5676)Ggt>Agt	p.G1892S	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1892S|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2109S					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						TGCACAGTCGGGTTCCTGGGG	0.363000													57	33					0	0	0.003610	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670802	131670802	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:131670802G>A	ENST00000259324.5	+	3	1882	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	LRRC8A_ENST00000372599.3_Silent_p.L453L|LRRC8A_ENST00000372600.4_Silent_p.L453L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	453					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						TCCTCAAGCTGGAGCTGATCC	0.612000													11	9					0	0	0.000978	0	0
TPH2	121278	broad.mit.edu	37	12	72338465	72338465	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72338465C>T	ENST00000333850.3	+	4	680	c.540_splice	c.e4+1	p.P180_splice	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	180					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTGACCACCCAGTAAGTGTC	0.468000													34	25					0	0	0.004289	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909092	153909092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:153909092C>T	ENST00000356448.4	+	8	1939	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S552F	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	552	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACCAATCCATCCTTTAAGGAA	0.393000													13	9					0	0	0.003163	0	0
FER1L6	654463	broad.mit.edu	37	8	125094552	125094552	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:125094552T>C	ENST00000522917.1	+	33	4450	c.4244T>C	c.(4243-4245)tTc>tCc	p.F1415S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.F1415S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1415	C2 5.					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)			CAAGCCACATTCCCAAAAGAG	0.483000													36	62					0	0	0.001485	0	0
BIN2	51411	broad.mit.edu	37	12	51696470	51696470	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:51696470C>T	ENST00000267012.4	-	4	373	c.312_splice	c.e4+1	p.W104_splice	BIN2_ENST00000452142.2_Splice_Site_p.W104_splice|BIN2_ENST00000604560.1_Splice_Site_p.W77_splice|BIN2_ENST00000544402.1_Splice_Site_p.W78_splice	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	104	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCACTCTTACCCATACGATGG	0.443000													35	87					0	0	0.005524	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364706	43364706	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43364706G>A	ENST00000344686.2	-	0	459							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CATTGTTGGGGATCTGATCAA	0.517000													5	27					0	0	0.001984	0	0
DPP6	1804	broad.mit.edu	37	7	154172103	154172103	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:154172103C>T	ENST00000404039.1	+	3	833	c.246C>T	c.(244-246)ccC>ccT	p.P82P	DPP6_ENST00000406326.1_Silent_p.P146P|DPP6_ENST00000332007.3_Silent_p.P84P|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Silent_p.P84P|DPP6_ENST00000377770.3_Silent_p.P146P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	146					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.P146P(2)|p.P84P(1)|p.P82P(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTCATGACCCCGAGGCTAAGT	0.433000													25	48					0	0	0.005443	0	0
CES1	1066	broad.mit.edu	37	16	55862792	55862792	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:55862792G>A	ENST00000422046.2	-	2	425	c.144C>T	c.(142-144)gcC>gcT	p.A48A	CES1_ENST00000360526.3_Silent_p.A49A|CES1_ENST00000361503.4_Silent_p.A48A			P23141	EST1_HUMAN	carboxylesterase 1	48					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCAGGAAAATGGCCACAGGCT	0.572000													10	37					0	0	0.000443	0	0
IDO1	3620	broad.mit.edu	37	8	39785653	39785653	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:39785653C>T	ENST00000518237.1	+	10	1800	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	IDO1_ENST00000522495.1_Silent_p.F387F|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	387					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)	TAATGAATTTCCTGAAGACTG	0.418000													13	12					0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	70954575	70954575	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:70954575G>A	ENST00000393567.2	-	46	7854	c.7704C>T	c.(7702-7704)ttC>ttT	p.F2568F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2568										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATGTCTAGGAAGGGTACGC	0.607000													12	8					0	0	0.001368	0	0
ATP2A3	489	broad.mit.edu	37	17	3846787	3846787	+	Silent	SNP	C	C	T	rs143762354	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:3846787C>T	ENST00000309890.7	-	11	1467	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.E439E|ATP2A3_ENST00000359983.3_Silent_p.E439E|ATP2A3_ENST00000397035.3_Silent_p.E439E|ATP2A3_ENST00000352011.3_Silent_p.E439E|ATP2A3_ENST00000397041.3_Silent_p.E439E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	439					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCTCCGTGGCCTCTCCCACCT	0.632000													33	40					0	0	0.004878	0	0
C10orf113	387638	broad.mit.edu	37	10	21435425	21435425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:21435425C>T	ENST00000529198.1	-	1	63	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C10orf113_ENST00000377118.4_5'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.E5K	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	5										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATTCTTCTTTCACTTTTAGCC	0.383000													23	23					0	0	0.005443	0	0
MUC6	4588	broad.mit.edu	37	11	1020107	1020107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:1020107G>A	ENST00000421673.2	-	29	3841	c.3791C>T	c.(3790-3792)cCc>cTc	p.P1264L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1264	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGCTGTGGGCTTGGAGGA	0.652000													5	7					0	0	0.003080	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113587	55113587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:55113587C>T	ENST00000370862.3	+	2	710	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	125					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.S125C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTGGACAGTCCCTTTGCAAA	0.423000													20	120					0	0	0.001882	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935284	151935284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:151935284C>T	ENST00000393902.3	-	3	1450	c.883G>A	c.(883-885)Gga>Aga	p.G295R	MAGEA3_ENST00000370278.3_Missense_Mutation_p.G295R			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	295	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGTCCTCCACTGATCTTT	0.557000													42	53					0	0	0.003610	0	0
ICA1L	130026	broad.mit.edu	37	2	203680689	203680689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:203680689G>A	ENST00000392237.2	-	8	885	c.728C>T	c.(727-729)tCc>tTc	p.S243F	ICA1L_ENST00000358299.2_Missense_Mutation_p.S243F	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	243	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGAATTTGGGACATCATTCG	0.388000													138	103					0	0	0.003610	0	0
CACNA1D	776	broad.mit.edu	37	3	53694254	53694254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:53694254C>T	ENST00000288139.3	+	5	836	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R240C|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R240C	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	240					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)	CAAAGCCCTCCGTGCCTTTCG	0.458000													19	23					0	0	0.006122	0	0
ANK1	286	broad.mit.edu	37	8	41585482	41585482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:41585482C>T	ENST00000396942.1	-	4	354	c.271G>A	c.(271-273)Gat>Aat	p.D91N	ANK1_ENST00000289734.7_Missense_Mutation_p.D91N|ANK1_ENST00000352337.4_Missense_Mutation_p.D91N|ANK1_ENST00000379758.2_Missense_Mutation_p.D91N|ANK1_ENST00000265709.8_Missense_Mutation_p.D124N|ANK1_ENST00000396945.1_Missense_Mutation_p.D91N|ANK1_ENST00000347528.4_Missense_Mutation_p.D91N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	91	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)			ACCACCTCATCCTGCCCGGCT	0.602000													23	35					0	0	0.003954	0	0
DDX46	9879	broad.mit.edu	37	5	134121252	134121252	+	Nonsense_Mutation	SNP	C	C	G	rs141820419		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:134121252C>G	ENST00000452510.2	+	11	1598	c.1440C>G	c.(1438-1440)taC>taG	p.Y480*	DDX46_ENST00000354283.4_Nonsense_Mutation_p.Y480*|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	480	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTGTTTACGGAGGAACAG	0.373000													41	24					0	0	0.002222	0	0
USP34	9736	broad.mit.edu	37	2	61528560	61528560	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:61528560A>C	ENST00000398571.2	-	28	3923	c.3847T>G	c.(3847-3849)Tca>Gca	p.S1283A		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1283					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)			TGTCCAGATGAAATCATCCTG	0.343000													73	37					0	0	0.003610	0	0
NFATC1	4772	broad.mit.edu	37	18	77170930	77170930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:77170930G>A	ENST00000253506.5	+	2	1024	c.655G>A	c.(655-657)Gag>Aag	p.E219K	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.E206K|NFATC1_ENST00000542384.1_Missense_Mutation_p.E219K|NFATC1_ENST00000427363.2_Missense_Mutation_p.E219K|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.E206K|NFATC1_ENST00000587635.1_Missense_Mutation_p.E219K|NFATC1_ENST00000329101.4_Missense_Mutation_p.E206K|NFATC1_ENST00000591814.1_Missense_Mutation_p.E219K|NFATC1_ENST00000586434.1_Missense_Mutation_p.E206K	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	219	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGACCCCGAGGAGGGCTTTCC	0.701000													18	14					0	0	0.000958	0	0
LRIG2	9860	broad.mit.edu	37	1	113655232	113655232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:113655232C>T	ENST00000361127.4	+	14	2128	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	644	Ig-like C2-type 2.					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)		TACTGACTTTCCTGCGGCTCG	0.498000													27	21					0	0	0.001271	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896728	24896728	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:24896728G>T	ENST00000396432.2	-	10	3013	c.2527C>A	c.(2527-2529)Cct>Act	p.P843T	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P630T|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	842					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						GTGAGGCAAGGAGGAACTGTT	0.478000													12	51					6.31663e-08	1.08968e-07	0.003163	1	0
TXLNB	167838	broad.mit.edu	37	6	139609965	139609965	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:139609965T>C	ENST00000358430.3	-	2	304	c.72A>G	c.(70-72)ttA>ttG	p.L24L		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	24						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TGTGACTGGGTAATGATGAAC	0.512000													35	39					0	0	0.003271	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690284	26690284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:26690284C>T	ENST00000529632.2	+	3	1058	c.862C>T	c.(862-864)Cct>Tct	p.P288S	SEZ6L_ENST00000343706.4_Missense_Mutation_p.P288S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P288S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P61S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P288S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P61S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P288S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	288	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTTCTCCAATCCTGAGGGGTA	0.512000													37	46					0	0	0.001951	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766691	111766691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:111766691C>T	ENST00000452346.2	+	7	839	c.836C>T	c.(835-837)gCc>gTc	p.A279V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.A153V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	279	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTGGTGGCCATAGTGGGC	0.527000													13	48					0	0	0.002450	0	0
OTOA	146183	broad.mit.edu	37	16	21698771	21698771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:21698771G>A	ENST00000388958.3	+	7	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	146					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522000													34	39					0	0	0.001485	0	0
CDS1	1040	broad.mit.edu	37	4	85562031	85562031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:85562031C>T	ENST00000295887.5	+	10	1343	c.920C>T	c.(919-921)cCa>cTa	p.P307L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	307					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTGTCTGCCCAGTGGAATAC	0.388000													24	84					0	0	0.005443	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791076	49791076	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:49791076C>T	ENST00000249601.4	-	2	452	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ARHGAP22_ENST00000435790.2_Silent_p.K58K|ARHGAP22_ENST00000417912.2_Silent_p.K52K|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	52	PH.				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						GCTGCCAGTTCTTCATGATGC	0.607000													43	57					0	0	0.003214	0	0
HMGCS2	3158	broad.mit.edu	37	1	120299955	120299955	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:120299955G>A	ENST00000369406.3	-	5	1006	c.957C>T	c.(955-957)gaC>gaT	p.D319D	HMGCS2_ENST00000544913.2_Silent_p.D277D|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	319					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)		CTGACAGGAAGTCATTGAACA	0.507000													87	4969					0	0	0.006122	0	0
USP34	9736	broad.mit.edu	37	2	61597488	61597488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:61597488G>A	ENST00000398571.2	-	10	1295	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	407					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)			TCAATATGTTGAGTACTCAGT	0.348000													74	38					0	0	0.003610	0	0
MADD	8567	broad.mit.edu	37	11	47315489	47315489	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:47315489C>T	ENST00000342922.4	+	20	3714	c.3357C>T	c.(3355-3357)tcC>tcT	p.S1119S	MADD_ENST00000402192.2_Silent_p.S1119S|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000402799.1_Silent_p.S1076S|MADD_ENST00000395336.3_Silent_p.S1157S|MADD_ENST00000349238.3_Silent_p.S1139S|MADD_ENST00000395344.3_Silent_p.S1076S|MADD_ENST00000311027.5_Silent_p.S1157S|MADD_ENST00000407859.3_Silent_p.S1096S|MADD_ENST00000406482.1_Silent_p.S1076S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1157					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGAAAAAGTCCCAGATCAGCG	0.468000													13	1					0	0	0.003163	0	0
C10orf88	80007	broad.mit.edu	37	10	124711492	124711492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:124711492G>A	ENST00000481909.1	-	3	643	c.419C>T	c.(418-420)tCc>tTc	p.S140F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	140								p.S140F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGCATGTGTGGAGGACTCCAA	0.254000													10	19					0	0	0.000978	0	0
COL6A6	131873	broad.mit.edu	37	3	130287203	130287203	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:130287203G>C	ENST00000358511.6	+	5	2187	c.2156G>C	c.(2155-2157)cGg>cCg	p.R719P	COL6A6_ENST00000453409.2_Missense_Mutation_p.R719P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	719	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGGGCGCCCGGCCCAACATC	0.502000													35	43					0	0	0.003271	0	0
PTPRD	5789	broad.mit.edu	37	9	8317885	8317885	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:8317885A>T	ENST00000381196.4	-	43	6271	c.5728T>A	c.(5728-5730)Tat>Aat	p.Y1910N	PTPRD_ENST00000540109.1_Missense_Mutation_p.Y1910N|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y1897N|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y1503N|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y1500N|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y1888N|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y1500N|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y1503N|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y1503N|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y1504N|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y1910N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1910					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)		TACGTTGCATAGTGGTCAAAG	0.478000										TSP Lung(15;0.13)			27	32					0	0	0.003271	0	0
ZNF592	9640	broad.mit.edu	37	15	85341835	85341835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:85341835C>T	ENST00000299927.3	+	5	2775	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	ZNF592_ENST00000560079.2_Missense_Mutation_p.P918L			Q92610	ZN592_HUMAN	zinc finger protein 592	918					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)			CACGGTGTTCCCCGAAATGTG	0.607000													5	33					0	0	0.001984	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499443	39499443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:39499443G>A	ENST00000263881.3	-	26	2278	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.P568S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.P205S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P631S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	652	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATTCTGTCAGGGAGTTTGTGT	0.368000													15	31					0	0	0.004007	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167501	24167501	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:24167501G>A	ENST00000344921.6	+	7	1119	c.912G>A	c.(910-912)ctG>ctA	p.L304L	SMARCB1_ENST00000407422.3_Silent_p.L286L|SMARCB1_ENST00000263121.7_Silent_p.L295L|SMARCB1_ENST00000407082.3_Silent_p.L249L|SMARCB1_ENST00000477836.1_3'UTR			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	295	2 X approximate tandem repeats.|Interaction with PPP1R15A.				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)				AGTTTGCCCTGAAGCTGTGCT	0.552000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							31	32					0	0	0.002836	0	0
LCK	3932	broad.mit.edu	37	1	32751132	32751132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:32751132G>A	ENST00000333070.4	+	13	1535	c.1435G>A	c.(1435-1437)Gtg>Atg	p.V479M	LCK_ENST00000373564.3_Missense_Mutation_p.V456M|LCK_ENST00000336890.5_Missense_Mutation_p.V449M	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	449	Protein kinase.				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)	CAACCCGGAGGTGATTCAGAA	0.562000			T	TRB@	T-ALL								28	14					0	0	0.002096	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802182	24802182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:24802182C>T	ENST00000395799.3	+	6	2348	c.2219C>T	c.(2218-2220)cCt>cTt	p.P740L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P740L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	740	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				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)		GAAACATCACCTAGAGGGGAA	0.468000													8	19					0	0	0.003080	0	0
DCAF7	10238	broad.mit.edu	37	17	61657259	61657259	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61657259C>T	ENST00000310827.4	+	4	700	c.483C>T	c.(481-483)ctC>ctT	p.L161L	DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	161					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GAGTGAATCTCGTGTCTGGCC	0.532000													13	26					0	0	0.003163	0	0
ABCC3	8714	broad.mit.edu	37	17	48745329	48745329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:48745329C>T	ENST00000285238.8	+	13	1821	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	581	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTTAAGACTTCCCCTCAACAT	0.537000													8	31					0	0	0.000978	0	0
FANCM	57697	broad.mit.edu	37	14	45636355	45636355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:45636355C>T	ENST00000267430.5	+	11	2076	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	FANCM_ENST00000556036.1_Missense_Mutation_p.S664F|FANCM_ENST00000542564.2_Missense_Mutation_p.S638F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	664					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						TCTATCTTTTCCTATAGGGAT	0.358000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	43					0	0	0.000673	0	0
FRAS1	80144	broad.mit.edu	37	4	79297021	79297021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:79297021G>A	ENST00000264895.6	+	26	3720	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	FRAS1_ENST00000325942.6_Missense_Mutation_p.E1094K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1093					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						CACCTCTAATGAAACATGTTC	0.443000													17	19					0	0	0.001523	0	0
TLE2	7089	broad.mit.edu	37	19	3005778	3005778	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:3005778G>A	ENST00000262953.6	-	16	1951	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	TLE2_ENST00000443826.3_Silent_p.F441F|TLE2_ENST00000590536.1_Silent_p.F564F|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Silent_p.F230F|TLE2_ENST00000591529.1_Silent_p.F577F|TLE2_ENST00000426948.2_Silent_p.F577F|TLE2_ENST00000455444.2_Silent_p.F441F	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	563					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)		TGCAGCAGGAGAAGCAAACCT	0.667000													16	26					0	0	0.004990	0	0
ZNF257	113835	broad.mit.edu	37	19	22271303	22271303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:22271303C>T	ENST00000594947.1	+	4	895	c.751C>T	c.(751-753)Cat>Tat	p.H251Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTAATTCATACTAGAGA	0.393000													9	25					0	0	0.004482	0	0
SMG7	9887	broad.mit.edu	37	1	183514307	183514307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:183514307C>T	ENST00000367537.3	+	17	2374	c.2179C>T	c.(2179-2181)Ctt>Ttt	p.L727F	SMG7_ENST00000508461.1_Missense_Mutation_p.L702F|SMG7_ENST00000347615.2_Missense_Mutation_p.L744F|SMG7_ENST00000515829.2_Missense_Mutation_p.L698F|SMG7_ENST00000456731.2_Missense_Mutation_p.L656F|SMG7_ENST00000507469.1_Missense_Mutation_p.L698F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	744	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCAGCAACCCCTTACATCTTT	0.542000													10	70					0	0	0.001855	0	0
ERMARD	55780	broad.mit.edu	37	6	170155474	170155474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:170155474G>T	ENST00000366773.3	+	3	304	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000366772.2_Nonsense_Mutation_p.E91*|C6orf70_ENST00000418781.3_Nonsense_Mutation_p.E91*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	CF070_HUMAN		91						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGGGCAATTTGAAATTCGATA	0.463000													14	53					0.000308642	0.000528986	0.003163	1	0
SLC13A5	284111	broad.mit.edu	37	17	6589527	6589527	+	Nonstop_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:6589527T>G	ENST00000433363.2	-	12	1939	c.1706A>C	c.(1705-1707)tAg>tCg	p.*569S	SLC13A5_ENST00000381074.4_Nonstop_Mutation_p.*526S|SLC13A5_ENST00000293800.6_Nonstop_Mutation_p.*552S|SLC13A5_ENST00000573648.1_Nonstop_Mutation_p.*523S	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	0						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGGCTCTTCCTAAGTCTCAAT	0.498000													61	62					0	0	0.003610	0	0
UGT3A2	167127	broad.mit.edu	37	5	36038066	36038066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:36038066C>T	ENST00000282507.3	-	6	1229	c.1128G>A	c.(1126-1128)atG>atA	p.M376I	UGT3A2_ENST00000513300.1_Missense_Mutation_p.M342I|UGT3A2_ENST00000545528.1_Missense_Mutation_p.M74I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	376						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATGGCCTCCATTATGCTAT	0.493000													28	25					0	0	0.001271	0	0
CLN3	1201	broad.mit.edu	37	16	28488892	28488892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:28488892G>A	ENST00000569430.1	-	17	2081	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	CLN3_ENST00000355477.5_Missense_Mutation_p.S373F|CLN3_ENST00000535392.1_Missense_Mutation_p.S343F|CLN3_ENST00000357857.9_Missense_Mutation_p.S367F|CLN3_ENST00000333496.9_Missense_Mutation_p.S397F|CLN3_ENST00000568224.1_Missense_Mutation_p.S343F|CLN3_ENST00000395653.4_Missense_Mutation_p.S321F|CLN3_ENST00000565316.1_Missense_Mutation_p.S404F|CLN3_ENST00000359984.7_Missense_Mutation_p.S421F|CLN3_ENST00000354630.5_Missense_Mutation_p.S404F|CLN3_ENST00000360019.2_Missense_Mutation_p.S421F|CLN3_ENST00000357806.7_Missense_Mutation_p.S322F|CLN3_ENST00000567963.1_Missense_Mutation_p.S324F			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	421					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCCCGACAGGGAGATCCCCAG	0.607000													24	30					0	0	0.003330	0	0
SASH1	23328	broad.mit.edu	37	6	148792633	148792633	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:148792633T>G	ENST00000367467.3	+	6	983	c.508T>G	c.(508-510)Tca>Gca	p.S170A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	170							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGACAGACTTCAAAAGGTAC	0.388000													10	16					0	0	0.000443	0	0
CCDC108	255101	broad.mit.edu	37	2	219896369	219896369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:219896369C>T	ENST00000341552.5	-	7	740	c.657G>A	c.(655-657)atG>atA	p.M219I	CCDC108_ENST00000453220.1_Missense_Mutation_p.M219I|CCDC108_ENST00000441968.1_Missense_Mutation_p.M219I|CCDC108_ENST00000410037.1_Missense_Mutation_p.M154I|CCDC108_ENST00000409865.3_Missense_Mutation_p.M208I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	219						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGCTGGTCCATGTACTCCT	0.637000													9	23					0	0	0.000443	0	0
PRX	57716	broad.mit.edu	37	19	40903633	40903633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:40903633G>A	ENST00000324001.7	-	7	896	c.626C>T	c.(625-627)gCc>gTc	p.A209V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	209					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGCGGCGGCGGCCAGCCG	0.716000													7	0					0	0	0.004482	0	0
ATP10D	57205	broad.mit.edu	37	4	47538910	47538910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:47538910C>T	ENST00000273859.3	+	9	1620	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	451					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGGTTTTTCGAAGATGTAG	0.443000													5	32					0	0	0.001168	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930911	144930911	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:144930911C>A	ENST00000529945.1	-	1	1237	c.798G>T	c.(796-798)aaG>aaT	p.K266N	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.K266N|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369351.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1469					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)		TTCCAAGTTCCTTTGCACTTC	0.478000			T	PDGFRB	MPD								11	549					0.00136819	0.00234092	0.001368	1	0
KRT73	319101	broad.mit.edu	37	12	53005026	53005026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:53005026G>A	ENST00000305748.3	-	6	1106	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	358	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGTCTTTGGATGAGACGG	0.552000													18	22					0	0	0.001523	0	0
TRPM3	80036	broad.mit.edu	37	9	73461349	73461349	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:73461349G>A	ENST00000377110.2	-	4	864	c.621C>T	c.(619-621)ctC>ctT	p.L207L	TRPM3_ENST00000358082.3_Silent_p.L54L|TRPM3_ENST00000423814.3_Silent_p.L209L|TRPM3_ENST00000396292.4_Silent_p.L54L|TRPM3_ENST00000360823.2_Silent_p.L54L|TRPM3_ENST00000361823.5_Silent_p.L54L|TRPM3_ENST00000396285.1_Silent_p.L54L|TRPM3_ENST00000377106.1_Silent_p.L54L|TRPM3_ENST00000377101.1_Silent_p.L54L|TRPM3_ENST00000408909.2_Silent_p.L54L|TRPM3_ENST00000377097.3_Silent_p.L54L|TRPM3_ENST00000377105.1_Silent_p.L54L|TRPM3_ENST00000396283.1_Silent_p.L54L|TRPM3_ENST00000396280.5_Silent_p.L54L|TRPM3_ENST00000377111.2_Silent_p.L207L|TRPM3_ENST00000357533.2_Silent_p.L209L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	207						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483000													68	89					0	0	0.003610	0	0
SERPINA6	866	broad.mit.edu	37	14	94772500	94772500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94772500C>T	ENST00000341584.3	-	4	1086	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	314					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCCAGCACATCTCCGAGGTCA	0.527000													12	38					0	0	0.002450	0	0
SASH1	23328	broad.mit.edu	37	6	148792634	148792634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:148792634C>T	ENST00000367467.3	+	6	984	c.509C>T	c.(508-510)tCa>tTa	p.S170L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	170							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGACAGACTTCAAAAGGTACT	0.388000													10	18					0	0	0.000443	0	0
C2orf71	388939	broad.mit.edu	37	2	29295194	29295194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:29295194C>T	ENST00000331664.5	-	1	1933	c.1934G>A	c.(1933-1935)aGa>aAa	p.R645K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	645					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGCGGCTGCTCTGGGCTGCAG	0.592000													18	33					0	0	0.000958	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876070	20876070	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:20876070C>T	ENST00000381552.1	+	9	1436	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	SLCO1C1_ENST00000266509.2_Silent_p.F356F|SLCO1C1_ENST00000545604.1_Silent_p.F356F|SLCO1C1_ENST00000545102.1_Silent_p.F238F|SLCO1C1_ENST00000540354.1_Silent_p.F307F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	356					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CAGTATACTTCCTATATTTAT	0.373000													30	42					0	0	0.002836	0	0
POLN	353497	broad.mit.edu	37	4	2178024	2178024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:2178024C>T	ENST00000511885.2	-	9	1570	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	POLN_ENST00000382865.1_Missense_Mutation_p.R406K|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	406					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CATTGTAAGTCTGTAGAGTGT	0.398000								DNA polymerases (catalytic subunits)					81	78					0	0	0.003610	0	0
DTD1	92675	broad.mit.edu	37	20	18724887	18724887	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:18724887G>A	ENST00000377452.3	+	5	801	c.621G>A	c.(619-621)cgG>cgA	p.R207R		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	207					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						CCTCTGAACGGGAGCCGTAGC	0.542000													6	20					0	0	0.003080	0	0
NCR1	9437	broad.mit.edu	37	19	55423586	55423586	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:55423586G>A	ENST00000594765.1	+	6	755	c.730_splice	c.e6+1	p.D244_splice	NCR1_ENST00000598576.1_Splice_Site_p.D232_splice|NCR1_ENST00000447255.1_Splice_Site_p.D244_splice|NCR1_ENST00000357397.5_Splice_Site_p.D138_splice|NCR1_ENST00000350790.5_Splice_Site_p.D150_splice|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000291890.4_Splice_Site_p.D245_splice			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	245					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			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)		ACTCCAGAAAGGTAAGTAGAC	0.517000													14	34					0	0	0.004007	0	0
MCAM	4162	broad.mit.edu	37	11	119182819	119182819	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:119182819G>A	ENST00000392814.1	-	4	1662	c.933C>T	c.(931-933)acC>acT	p.T311T	MCAM_ENST00000264036.4_Silent_p.T362T			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	362	Ig-like C2-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CACAGGTCAGGGTGAGGCTGC	0.637000													13	1					0	0	0.001855	0	0
CLCA2	9635	broad.mit.edu	37	1	86920861	86920861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:86920861C>T	ENST00000370565.4	+	14	2645	c.2483C>T	c.(2482-2484)cCt>cTt	p.P828L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	828					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGCGAAATCCTCAGCAAGCT	0.378000													10	42					0	0	0.000443	0	0
SLIT2	9353	broad.mit.edu	37	4	20619120	20619120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:20619120G>A	ENST00000504154.1	+	36	4447	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E1391K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1412K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1395K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1399					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	p.E1399K(1)		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						TAAGTGCTTGGAGGGCCATGG	0.537000													15	11					0	0	0.004007	0	0
GRM3	2913	broad.mit.edu	37	7	86415737	86415737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:86415737G>A	ENST00000361669.2	+	3	1728	c.629G>A	c.(628-630)tGg>tAg	p.W210*	GRM3_ENST00000394720.2_Nonsense_Mutation_p.W208*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.W82*|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.W210*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	210					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCTTCAACTGGACCTACGTG	0.572000													26	28					0	0	0.001271	0	0
CXADR	1525	broad.mit.edu	37	21	18931355	18931355	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:18931355G>A	ENST00000284878.7	+	4	1225	c.477G>A	c.(475-477)aaG>aaA	p.K159K	CXADR_ENST00000400166.1_Silent_p.K159K|CXADR_ENST00000306618.10_Silent_p.K159K|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400169.1_Silent_p.K159K	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	159	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTGACTTTAAGATAAAATGTG	0.358000													19	25					0	0	0.006122	0	0
MYO18B	84700	broad.mit.edu	37	22	26422687	26422687	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:26422687C>T	ENST00000335473.7	+	43	6997	c.6747C>T	c.(6745-6747)gcC>gcT	p.A2249A	MYO18B_ENST00000536101.1_Silent_p.A2249A|MYO18B_ENST00000407587.2_Silent_p.A2250A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2249						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTTCAGCGGCCCTCTCGGAGT	0.602000													12	9					0	0	0.002450	0	0
NPM2	10361	broad.mit.edu	37	8	21891767	21891767	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:21891767A>C	ENST00000397940.1	+	6	1527	c.512A>C	c.(511-513)aAg>aCg	p.K171T	NPM2_ENST00000289820.6_Missense_Mutation_p.K171T|NPM2_ENST00000521157.1_Missense_Mutation_p.K171T|NPM2_ENST00000518119.1_Missense_Mutation_p.K171T|NPM2_ENST00000381530.5_Intron			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	171					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GTGCCCCAGAAGCAGGCGAGC	0.562000													10	36					0	0	0.001855	0	0
LPHN3	23284	broad.mit.edu	37	4	62897307	62897307	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:62897307C>T	ENST00000512091.1	+	22	4113	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	LPHN3_ENST00000511324.1_Silent_p.F1181F|LPHN3_ENST00000507164.1_Silent_p.F1181F|LPHN3_ENST00000514157.1_Silent_p.F1113F|LPHN3_ENST00000514996.1_Silent_p.F1113F|LPHN3_ENST00000506746.1_Silent_p.F1181F|LPHN3_ENST00000506720.1_Silent_p.F1190F|LPHN3_ENST00000506700.1_Silent_p.F1113F|LPHN3_ENST00000508693.1_Silent_p.F1190F|LPHN3_ENST00000508946.1_Silent_p.F1122F|LPHN3_ENST00000514591.1_Silent_p.F1122F|LPHN3_ENST00000545650.1_Silent_p.F1122F|LPHN3_ENST00000507625.1_Silent_p.F1181F|LPHN3_ENST00000504896.1_Silent_p.F1122F|LPHN3_ENST00000509896.1_Silent_p.F1190F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1100					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TATTTATTTTCCATTGTGTCC	0.333000													35	39					0	0	0.002836	0	0
CRYGN	155051	broad.mit.edu	37	7	151127247	151127247	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:151127247A>G	ENST00000337323.2	-	4	562	c.436T>C	c.(436-438)Ttc>Ctc	p.F146L	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	146										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)		TCAGCTCCGAAGCTTCTAGGG	0.562000													15	18					0	0	0.002450	0	0
MORC3	23515	broad.mit.edu	37	21	37736479	37736479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:37736479C>T	ENST00000400485.1	+	14	1617	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	514					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						AGACATCTTTCAGAAGGAACA	0.413000													13	19					0	0	0.001368	0	0
POLE	5426	broad.mit.edu	37	12	133237728	133237728	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:133237728C>G	ENST00000320574.5	-	25	2930	c.2887G>C	c.(2887-2889)Ggt>Cgt	p.G963R	POLE_ENST00000535270.1_Missense_Mutation_p.G936R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	963					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)		GCCAGAGAACCGTCTTCATTG	0.532000								DNA polymerases (catalytic subunits)					54	54					0	0	0.003610	0	0
TRIM32	22954	broad.mit.edu	37	9	119461313	119461313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:119461313C>T	ENST00000450136.1	+	2	1453	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P431L|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	431					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						AACCTCACTCCTCTCTCAGTG	0.522000													89	81					0	0	0.003610	0	0
FCRL5	83416	broad.mit.edu	37	1	157494241	157494241	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:157494241G>A	ENST00000361835.3	-	10	2224	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	FCRL5_ENST00000356953.4_Silent_p.I689I|FCRL5_ENST00000368191.3_Silent_p.I604I|FCRL5_ENST00000368190.3_Silent_p.I689I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	689	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			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)				ACCAGTACAGGATTGGGGAGG	0.577000													23	25					0	0	0.002780	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343834	38343834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:38343834C>T	ENST00000374618.3	+	5	960	c.782C>T	c.(781-783)tCc>tTc	p.S261F	ZNF33A_ENST00000307441.9_Missense_Mutation_p.S260F|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S260F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S267F|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	260						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GATAGTTCATCCCTCTTGTTC	0.383000													24	18					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179647683	179647683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179647683C>T	ENST00000589042.1	-	18	3174	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	TTN_ENST00000342175.6_Missense_Mutation_p.E938K|TTN_ENST00000591111.1_Missense_Mutation_p.E984K|TTN_ENST00000460472.2_Missense_Mutation_p.E938K|TTN_ENST00000360870.5_Missense_Mutation_p.E984K|TTN_ENST00000359218.5_Missense_Mutation_p.E938K|TTN_ENST00000342992.6_Missense_Mutation_p.E984K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	984	Ig-like 3.						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)			ATGGAACTTTCGATTTGGTAG	0.478000													9	32					0	0	0.000673	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825871	64825871	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:64825871G>A	ENST00000358658.3	-	1	150	c.123C>T	c.(121-123)gaC>gaT	p.D41D	NAALADL1_ENST00000339885.2_Silent_p.D41D|NAALADL1_ENST00000355369.2_Silent_p.D41D|NAALADL1_ENST00000340252.4_Silent_p.D41D|NAALADL1_ENST00000355721.3_Silent_p.D41D|NAALADL1_ENST00000356632.3_Silent_p.D41D	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	41					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGATCTCCAGGTCCAGGTCCT	0.642000													5	11					0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152281798	152281798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152281798G>A	ENST00000368799.1	-	3	5599	c.5564C>T	c.(5563-5565)tCc>tTc	p.S1855F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1855	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCCACGGGAGACATCAGA	0.547000									Ichthyosis				117	158					0	0	0.003610	0	0
ZFHX3	463	broad.mit.edu	37	16	72822397	72822397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:72822397C>T	ENST00000268489.5	-	10	10450	c.9778G>A	c.(9778-9780)Gag>Aag	p.E3260K	ZFHX3_ENST00000397992.5_Missense_Mutation_p.E2346K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3260					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)				TCTCCTTTCTCCTTCTTGGGG	0.592000													25	62					0	0	0.003954	0	0
PKP2	5318	broad.mit.edu	37	12	33030932	33030932	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:33030932G>A	ENST00000340811.4	-	3	990	c.882C>T	c.(880-882)tcC>tcT	p.S294S	PKP2_ENST00000070846.6_Silent_p.S294S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	294					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCTGTGGAAGGAGCTCTGAT	0.687000													7	22					0	0	0.001984	0	0
DPPA4	55211	broad.mit.edu	37	3	109050768	109050768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:109050768C>T	ENST00000335658.6	-	3	343	c.289G>A	c.(289-291)Gac>Aac	p.D97N	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	97						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CGCAGAATGTCCCGGTGAATC	0.537000													9	55					0	0	0.000978	0	0
FLG	2312	broad.mit.edu	37	1	152280391	152280391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:152280391G>A	ENST00000368799.1	-	3	7006	c.6971C>T	c.(6970-6972)tCa>tTa	p.S2324L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2324	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCACTTGATCTTGCCTG	0.552000									Ichthyosis				158	86					0	0	0.003610	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963032	106963032	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:106963032G>A	ENST00000390621.2	-	0	307																											ACTCTGTCCTGGAATTTCTGT	0.542000													66	64					0	0	0.003610	0	0
ERC2	26059	broad.mit.edu	37	3	56330423	56330423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56330423C>T	ENST00000288221.6	-	3	953	c.698G>A	c.(697-699)cGa>cAa	p.R233Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	233						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTCTGGGTTCGCAGCTCATC	0.522000													10	32					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179570047	179570047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179570047C>T	ENST00000589042.1	-	103	29682	c.29458G>A	c.(29458-29460)Gaa>Aaa	p.E9820K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9503K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8576K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9503	Ig-like 79.						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)			ATATCAATTTCCTCTTCTTCT	0.333000													9	6					0	0	0.004482	0	0
LRP5	4041	broad.mit.edu	37	11	68171002	68171002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:68171002C>T	ENST00000294304.7	+	8	1742	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	546	Beta-propeller 2.				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						GGACAAGCTCCCGCACATTTT	0.602000													21	25					0	0	0.001271	0	0
C16orf92	146378	broad.mit.edu	37	16	30035536	30035536	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:30035536G>A	ENST00000300575.2	+	4	408	c.387G>A	c.(385-387)caG>caA	p.Q129Q		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	129						integral to membrane				breast(3)|lung(3)	6						GAAACTTCCAGAAAGGGGCCT	0.587000													11	14					0	0	0.001855	0	0
SSR2	6746	broad.mit.edu	37	1	155989874	155989874	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:155989874G>A	ENST00000295702.4	-	2	156	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	SSR2_ENST00000480567.1_Silent_p.L29L|SSR2_ENST00000529008.1_Silent_p.L29L|SSR2_ENST00000496742.1_Silent_p.L29L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	29					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTTCAGCAGTGATTTGGAA	0.478000													22	32					0	0	0.003954	0	0
SEPP1	6414	broad.mit.edu	37	5	42801055	42801055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:42801055G>A	ENST00000514985.1	-	5	1169	c.913C>T	c.(913-915)Cga>Tga	p.R305*	CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000506577.1_Nonsense_Mutation_p.R305*|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.R305*|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	305					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATCAGATGTCGACAATGGCAG	0.423000													31	19					0	0	0.002445	0	0
ST18	9705	broad.mit.edu	37	8	53030987	53030987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:53030987C>T	ENST00000276480.7	-	24	3453	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	924						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E924K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTAATTTCTTCATCACTCTCT	0.313000													37	30					0	0	0.003755	0	0
LRRC29	26231	broad.mit.edu	37	16	67241580	67241580	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:67241580T>C	ENST00000409037.1	-	4	1496	c.600A>G	c.(598-600)caA>caG	p.Q200Q	LRRC29_ENST00000409509.1_Silent_p.Q200Q|LRRC29_ENST00000393992.1_Silent_p.Q200Q|LRRC29_ENST00000341546.3_Silent_p.Q200Q			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	200										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)		GCAGCTGGGCTTGGAAGCGTC	0.637000													14	17					0	0	0.004990	0	0
WBP11	51729	broad.mit.edu	37	12	14941981	14941981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:14941981G>A	ENST00000261167.2	-	11	1629	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	WBP11_ENST00000537574.1_Nonsense_Mutation_p.R432*	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	466	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAGGGGGTCGGCCTGGTGGT	0.642000													17	16					0	0	0.000958	0	0
AOAH	313	broad.mit.edu	37	7	36662820	36662820	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:36662820A>C	ENST00000431169.1	-	7	858	c.558T>G	c.(556-558)gaT>gaG	p.D186E	AOAH_ENST00000258749.5_Missense_Mutation_p.D186E|AOAH_ENST00000535891.1_Missense_Mutation_p.D154E	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	186					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATTTGTCTGAATCCACATCTT	0.358000													14	20					0	0	0.006122	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515704	70515704	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:70515704G>A	ENST00000381269.2	-	7	2940	c.2187C>T	c.(2185-2187)gaC>gaT	p.D729D	SLC8A3_ENST00000394330.2_Silent_p.D86D|SLC8A3_ENST00000356921.2_Silent_p.D723D|SLC8A3_ENST00000534137.1_Silent_p.D726D|SLC8A3_ENST00000528359.1_Silent_p.D727D|SLC8A3_ENST00000216568.7_Silent_p.D100D|SLC8A3_ENST00000533541.1_Silent_p.D86D|SLC8A3_ENST00000357887.3_Silent_p.D727D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	729					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCATGACGTAGTCAAAGCAGG	0.572000													14	14					0	0	0.002450	0	0
BCMO1	53630	broad.mit.edu	37	16	81303925	81303925	+	Silent	SNP	C	C	T	rs141341532	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:81303925C>T	ENST00000258168.2	+	7	1466	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	BCMO1_ENST00000425577.2_Silent_p.F266F	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	335					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCAGCTCTTCTACCTGGCCA	0.577000													32	24					0	0	0.003755	0	0
CGNL1	84952	broad.mit.edu	37	15	57731401	57731401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:57731401G>A	ENST00000281282.5	+	2	1282	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	402	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGGAACTCGGAGTACCTGAT	0.542000													67	50					0	0	0.003610	0	0
PRCD	768206	broad.mit.edu	37	17	74538648	74538648	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:74538648C>T	ENST00000586148.1	+	3	209	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	PRCD_ENST00000592014.1_Silent_p.L53L|PRCD_ENST00000592432.1_3'UTR|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	53					response to stimulus|visual perception	cytoplasm|integral to membrane											GAAAGAACCTCTGAAGTAAGC	0.602000													24	17					0	0	0.001061	0	0
SMCO1	255798	broad.mit.edu	37	3	196236461	196236461	+	Missense_Mutation	SNP	C	C	T	rs79673145	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:196236461C>T	ENST00000397537.2	-	2	286	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1									p.E44K(1)									CTATGATGTTCGAATTTCTGC	0.438000													16	49					0	0	0.004990	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608156	24608156	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:24608156A>G	ENST00000379145.1	-	4	460	c.416T>C	c.(415-417)tTt>tCt	p.F139S	PCYT1B_ENST00000379144.2_Missense_Mutation_p.F157S|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000356768.4_Missense_Mutation_p.F157S	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	157	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTTTTCCAGAAACTCTGGCGT	0.478000													20	1					0	0	0.002780	0	0
TRO	7216	broad.mit.edu	37	X	54956549	54956549	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:54956549C>G	ENST00000173898.7	+	12	3504	c.3392C>G	c.(3391-3393)gCt>gGt	p.A1131G	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.A662G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.A734G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1131	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGCTTTGGTGCTGCTCCCAGC	0.577000													4	1					0	0	0.004007	0	0
TRIM35	23087	broad.mit.edu	37	8	27145561	27145561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:27145561G>A	ENST00000305364.4	-	6	1071	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	330	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACCTGCACGCGGTAGCCATGG	0.657000													14	21					0	0	0.004007	0	0
SDK1	221935	broad.mit.edu	37	7	4153801	4153801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:4153801G>A	ENST00000404826.2	+	25	3857	c.3718G>A	c.(3718-3720)Gag>Aag	p.E1240K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1240K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1240	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATTCACCATCGAGGAGCTGGA	0.637000													18	15					0	0	0.001882	0	0
SERGEF	26297	broad.mit.edu	37	11	18026049	18026049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:18026049G>A	ENST00000265965.5	-	4	537	c.386C>T	c.(385-387)tCc>tTc	p.S129F	SERGEF_ENST00000528200.1_Missense_Mutation_p.S129F|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532265.1_Missense_Mutation_p.S15F|SERGEF_ENST00000532212.1_5'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	129					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGGCCAAAGGAGTTGGATCC	0.418000													7	28					0	0	0.004482	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510225	41510225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:41510225C>T	ENST00000324071.4	+	3	365	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	CYP2B6_ENST00000593831.1_Missense_Mutation_p.R44C|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R80C	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	120					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120C(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAATGGAAACCGCTGGAAGGT	0.547000													4	19					0	0	0.000602	0	0
GFRA1	2674	broad.mit.edu	37	10	117856168	117856168	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:117856168A>T	ENST00000439649.3	-	6	1230	c.863T>A	c.(862-864)aTt>aAt	p.I288N	GFRA1_ENST00000355422.6_Missense_Mutation_p.I293N|GFRA1_ENST00000544592.1_Missense_Mutation_p.I172N|GFRA1_ENST00000369236.1_Missense_Mutation_p.I288N	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	293					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GATCTTACCAATAAGCCCCGA	0.493000													6	22					0	0	0.001984	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627233	21627233	+	Silent	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:21627233T>A	ENST00000425654.2	+	19	2580	c.2100T>A	c.(2098-2100)ctT>ctA	p.L700L	CNKSR2_ENST00000543067.1_Silent_p.L681L|CNKSR2_ENST00000379510.3_Silent_p.L730L|CNKSR2_ENST00000279451.4_Silent_p.L730L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	730					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATAGCCGACTTTCCTCCACGG	0.502000													33	1					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179579723	179579723	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179579723G>A	ENST00000589042.1	-	90	26414	c.26190C>T	c.(26188-26190)atC>atT	p.I8730I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I8413I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I7486I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8413	Ig-like 70.						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)			CTTTGAGAGCGATGGAACCAA	0.473000													34	70					0	0	0.004289	0	0
NEK11	79858	broad.mit.edu	37	3	130881365	130881365	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:130881365A>G	ENST00000383366.4	+	11	1369	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	NEK11_ENST00000510688.1_Missense_Mutation_p.K359R|NEK11_ENST00000508196.1_Missense_Mutation_p.K359R|NEK11_ENST00000412440.2_Missense_Mutation_p.K211R|NEK11_ENST00000510769.1_Missense_Mutation_p.K254R|NEK11_ENST00000356918.4_Missense_Mutation_p.K359R|NEK11_ENST00000429253.2_Missense_Mutation_p.K359R|NEK11_ENST00000507910.1_Missense_Mutation_p.K359R|NEK11_ENST00000511262.1_Missense_Mutation_p.K359R	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	359					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAGCCAGGAAGCTGAAGTAA	0.498000													40	44					0	0	0.001485	0	0
RGS22	26166	broad.mit.edu	37	8	101014555	101014555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:101014555G>A	ENST00000360863.6	-	18	2859	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R708W|RGS22_ENST00000523437.1_Missense_Mutation_p.R877W	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	889	RGS 1.				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)			GTTATTCTCCGGAACTGCTCA	0.318000													20	29					0	0	0.002780	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970302	101970302	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:101970302C>T	ENST00000543253.1	+	5	1424	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	GPRASP2_ENST00000332262.5_Silent_p.L169L|GPRASP2_ENST00000535209.1_Silent_p.L169L	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						ATCTAAGGGCCTGTCTATGGA	0.527000													59	3					0	0	0.003610	0	0
PNRC1	10957	broad.mit.edu	37	6	89790784	89790784	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:89790784C>T	ENST00000336032.3	+	1	288	c.171C>T	c.(169-171)ctC>ctT	p.L57L	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCTCTTCCTCCCTCATTTCC	0.701000										Multiple Myeloma(7;0.094)			15	15					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431354	110431354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:110431354G>A	ENST00000378402.5	+	22	2493	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	797					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)			AGACCTTCTGGATCTCGTAAG	0.363000										HNSCC(38;0.096)			16	57					0	0	0.004990	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711422	140711422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140711422C>T	ENST00000517417.1	+	1	1171	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P391S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAATTTACCCTTTAAATT	0.393000													9	23					0	0	0.004482	0	0
KIDINS220	57498	broad.mit.edu	37	2	8958895	8958895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:8958895G>A	ENST00000256707.3	-	3	318	c.137C>T	c.(136-138)gCc>gTc	p.A46V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A4V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A46V|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A46V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A46V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	46					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCTTGTTCGGCAGCTATCAT	0.328000													46	26					0	0	0.003610	0	0
C15orf27	123591	broad.mit.edu	37	15	76496597	76496597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:76496597G>A	ENST00000388942.3	+	11	1813	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	513						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CATGCTGGAGGACAAGTTCAG	0.547000													23	66					0	0	0.003954	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232645	193232645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:193232645G>A	ENST00000342695.4	-	2	398	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ATP13A4_ENST00000295548.3_Missense_Mutation_p.R26W|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R26W	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R26W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTTGAGTCCGATAGCCAAAT	0.418000													23	28					0	0	0.005443	0	0
SKAP1	8631	broad.mit.edu	37	17	46474139	46474139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:46474139C>T	ENST00000336915.6	-	2	124	c.55G>A	c.(55-57)Gag>Aag	p.E19K	SKAP1_ENST00000584924.1_Missense_Mutation_p.E19K	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	19					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						GCCAGAAACTCTTCAGCATCT	0.403000													37	138					0	0	0.002852	0	0
DHCR7	1717	broad.mit.edu	37	11	71150111	71150111	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:71150111G>A	ENST00000355527.3	-	7	921	c.645C>T	c.(643-645)ttC>ttT	p.F215F	DHCR7_ENST00000407721.2_Silent_p.F215F	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	215					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGTTGTAAAAGAAATTGCCTG	0.443000									Smith-Lemli-Opitz syndrome				9	14					0	0	0.000443	0	0
KNDC1	85442	broad.mit.edu	37	10	135011270	135011270	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:135011270C>A	ENST00000304613.3	+	12	1925	c.1904C>A	c.(1903-1905)cCa>cAa	p.P635Q	KNDC1_ENST00000368572.2_Missense_Mutation_p.P635Q|KNDC1_ENST00000368571.2_Missense_Mutation_p.P570Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	635					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCCAGCCCAGGTGGGGAC	0.647000													28	11					3.65163e-15	6.3297e-15	0.001061	1	0
PLCXD2	257068	broad.mit.edu	37	3	111432825	111432825	+	Missense_Mutation	SNP	G	G	C	rs146970589	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:111432825G>C	ENST00000393934.3	+	3	1286	c.716G>C	c.(715-717)aGt>aCt	p.S239T	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.S239T	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	239					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AACACCACAAGTGTGCGCAAA	0.532000													10	31					0	0	0.000673	0	0
SLURP1	57152	broad.mit.edu	37	8	143822646	143822646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:143822646G>A	ENST00000246515.1	-	3	252	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	76					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCACACAGGAGCTGGAGCA	0.667000													4	8					0	0	0.000248	0	0
TUBB8	347688	broad.mit.edu	37	10	93719	93719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:93719C>T	ENST00000447903.2	-	4	712	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E205K			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E205K(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537000													30	45					0	0	0.001271	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711932	140711932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140711932G>A	ENST00000517417.1	+	1	1681	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E561K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCCGAGATCCTGTA	0.647000													58	24					0	0	0.003610	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045627	184045627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:184045627C>T	ENST00000342981.4	+	25	4207	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q1224*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q1271*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.Q1068*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.Q1069*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q1264*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.Q1100*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q1271*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q1225*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.Q1178*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.Q1101*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q1271*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.Q1177*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q1264*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1264	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGCAGTCCAGTGCGTGCA	0.612000													20	19					0	0	0.002780	0	0
NR5A2	2494	broad.mit.edu	37	1	200080397	200080397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:200080397G>A	ENST00000367362.3	+	6	1424	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	NR5A2_ENST00000544748.1_Missense_Mutation_p.R321Q|NR5A2_ENST00000236914.3_Missense_Mutation_p.R347Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	393					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CACATTTACCGACAAGTGGTA	0.383000													27	20					0	0	0.002096	0	0
FREM1	158326	broad.mit.edu	37	9	14748456	14748456	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:14748456G>A	ENST00000380881.4	-	32	6557	c.5742C>T	c.(5740-5742)ggC>ggT	p.G1914G	FREM1_ENST00000380894.1_Silent_p.G449G|FREM1_ENST00000422223.2_Silent_p.G1913G|FREM1_ENST00000380880.3_Silent_p.G1913G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1913					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)		TAGAATCAAAGCCCCGCAGGG	0.483000													12	10					0	0	0.000978	0	0
WDR25	79446	broad.mit.edu	37	14	100996330	100996330	+	Silent	SNP	C	C	T	rs149360659	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:100996330C>T	ENST00000335290.6	+	7	1813	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	WDR25_ENST00000542471.2_Silent_p.S272S|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.S529S|WDR25_ENST00000554998.1_Silent_p.S529S	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	529										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGCTGCCCTCCGTCCTCGCCA	0.627000													6	33					0	0	0.001984	0	0
CACNG5	27091	broad.mit.edu	37	17	64881222	64881222	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:64881222C>T	ENST00000533854.1	+	6	930	c.693C>T	c.(691-693)ttC>ttT	p.F231F	CACNG5_ENST00000307139.3_Silent_p.F231F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	231				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAGGCCAGTTCCTACACCCAG	0.627000													24	27					0	0	0.005443	0	0
KIT	3815	broad.mit.edu	37	4	55602768	55602768	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:55602768C>T	ENST00000288135.5	+	18	2686	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	863	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGAGCTGTTCTCTTTAGGTA	0.418000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				53	40					0	0	0.003610	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813131	25813131	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25813131G>A	ENST00000244527.4	-	8	940	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SLC17A1_ENST00000476801.1_Silent_p.F275F|SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000468082.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	275					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TATGTGACCAGAAAAACGTAA	0.358000													31	19					0	0	0.002096	0	0
CNTROB	116840	broad.mit.edu	37	17	7839765	7839765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:7839765C>T	ENST00000380262.3	+	5	1601	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CNTROB_ENST00000380255.3_Missense_Mutation_p.R226C|CNTROB_ENST00000565740.1_Missense_Mutation_p.R226C|CNTROB_ENST00000563694.1_Missense_Mutation_p.R226C	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	226					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)				GGCTGCCGACCGCAAGAAAGA	0.488000													13	57					0	0	0.002450	0	0
CSMD3	114788	broad.mit.edu	37	8	113326686	113326686	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:113326686C>T	ENST00000297405.5	-	48	7765	c.7521G>A	c.(7519-7521)aaG>aaA	p.K2507K	CSMD3_ENST00000352409.3_Silent_p.K2437K|CSMD3_ENST00000455883.2_Silent_p.K2403K|CSMD3_ENST00000343508.3_Silent_p.K2467K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2507	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCAAATTCCTTTTCTGTCT	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	35					0	0	0.000958	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432954	73432954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:73432954C>T	ENST00000263666.4	-	10	2877	c.2763G>A	c.(2761-2763)tgG>tgA	p.W921*	PDZRN3_ENST00000479530.1_Nonsense_Mutation_p.W638*|PDZRN3_ENST00000535920.1_Nonsense_Mutation_p.W643*|PDZRN3_ENST00000466780.1_Nonsense_Mutation_p.W578*|PDZRN3_ENST00000462146.2_Nonsense_Mutation_p.W578*	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	921							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCACCTTCCACTCCATGC	0.662000													10	24					0	0	0.001368	0	0
RGS7	6000	broad.mit.edu	37	1	241031944	241031944	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:241031944A>C	ENST00000366565.1	-	9	933	c.552T>G	c.(550-552)atT>atG	p.I184M	RGS7_ENST00000366563.1_Missense_Mutation_p.I184M|RGS7_ENST00000366564.1_Missense_Mutation_p.I184M|RGS7_ENST00000446183.2_Missense_Mutation_p.I100M|RGS7_ENST00000348120.2_Missense_Mutation_p.I131M|RGS7_ENST00000407727.1_Missense_Mutation_p.I184M|RGS7_ENST00000331110.7_Missense_Mutation_p.I158M|RGS7_ENST00000401882.1_Missense_Mutation_p.I131M|RGS7_ENST00000366562.4_Missense_Mutation_p.I184M	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	184					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|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTCCTTTCAATCTTGTCTC	0.458000													16	56					0	0	0.004990	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450995	117450995	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:117450995G>A	ENST00000160373.3	-	3	329	c.238C>T	c.(238-240)Cta>Tta	p.L80L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	80										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGTCATTTAGATTAAATCTC	0.433000													30	45					0	0	0.002836	0	0
RPS18	6222	broad.mit.edu	37	6	33244018	33244018	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:33244018C>T	ENST00000439602.2	+	5	467	c.357C>T	c.(355-357)gcC>gcT	p.A119A	RPS18_ENST00000474973.1_Silent_p.A49A|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	119					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AGATTCGGGCCCATAGAGGGC	0.562000													31	22					0	0	0.002836	0	0
CD1E	913	broad.mit.edu	37	1	158325692	158325692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:158325692G>A	ENST00000444681.2	+	3	697	c.404G>A	c.(403-405)gGa>gAa	p.G135E	CD1E_ENST00000434258.1_Missense_Mutation_p.G232E|CD1E_ENST00000368164.3_Missense_Mutation_p.G45E|CD1E_ENST00000368167.3_Missense_Mutation_p.G234E|CD1E_ENST00000452291.2_Missense_Mutation_p.G45E|CD1E_ENST00000368154.1_Missense_Mutation_p.G45E|CD1E_ENST00000368163.3_Missense_Mutation_p.G234E|CD1E_ENST00000368166.3_Missense_Mutation_p.G45E|CD1E_ENST00000368155.3_Missense_Mutation_p.G144E|CD1E_ENST00000368160.3_Missense_Mutation_p.G234E|CD1E_ENST00000368165.3_Missense_Mutation_p.G144E|CD1E_ENST00000368156.1_Missense_Mutation_p.G144E|CD1E_ENST00000368157.1_Missense_Mutation_p.G45E|CD1E_ENST00000368161.3_Missense_Mutation_p.G234E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	234					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGTCTCAGGATTCTACCCA	0.592000													10	30					0	0	0.000978	0	0
BTAF1	9044	broad.mit.edu	37	10	93784552	93784552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:93784552G>A	ENST00000265990.6	+	35	5211	c.4903G>A	c.(4903-4905)Gag>Aag	p.E1635K	BTAF1_ENST00000544642.1_Missense_Mutation_p.E463K	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1635					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)				CAGCACTTCCGAGAGTGGCAC	0.418000													30	27					0	0	0.002445	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:123274229C>T	ENST00000264501.4	+	81	14393	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C			Q2LD37	K1109_HUMAN	KIAA1109	4674					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						TCCAAATTTTCGTTCAAAATC	0.368000													17	65					0	0	0.004990	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092606	50092606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:50092606C>T	ENST00000298292.8	-	3	2248	c.2168G>A	c.(2167-2169)gGt>gAt	p.G723D	DNAAF2_ENST00000406043.3_Missense_Mutation_p.G675D	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	723					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TGTAACTAAACCAAAGCTATC	0.323000													21	33					0	0	0.001523	0	0
IRS1	3667	broad.mit.edu	37	2	227662747	227662747	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:227662747G>A	ENST00000305123.4	-	1	1728	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	236	IRS-type PTB.				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)		CCTGCATCCAGAACTCCCCGG	0.612000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	18					0	0	0.003954	0	0
DNAH10	196385	broad.mit.edu	37	12	124285948	124285948	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124285948G>A	ENST00000409039.3	+	15	2254	c.2229G>A	c.(2227-2229)tcG>tcA	p.S743S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	743	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTTAGGTCGGGATATAAGA	0.408000													14	65					0	0	0.003163	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383122	29383122	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:29383122G>T	ENST00000544604.2	+	2	534	c.359G>T	c.(358-360)tGg>tTg	p.W120L	ZNRF3_ENST00000406323.3_Missense_Mutation_p.W20L|ZNRF3_ENST00000402174.1_Missense_Mutation_p.W20L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.W20L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	120						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GAATATGGCTGGGTAGGAGTG	0.478000													23	41					4.87955e-14	8.4471e-14	0.005443	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625499	43625499	+	RNA	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:43625499C>T	ENST00000586348.1	+	0	45																											GATGGTTTAACCTCTGTAGTA	0.507000													45	143					0	0	0.003610	0	0
OPLAH	26873	broad.mit.edu	37	8	145111541	145111541	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:145111541G>A	ENST00000426825.1	-	13	1905	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	608							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)	AGGCTGCCCCGAAGTCCCCCG	0.677000													15	5					0	0	0.004990	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52195888	52195888	+	RNA	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:52195888T>C	ENST00000602324.1	-	0	821				MIR99B_ENST00000384819.1_RNA	NR_029482.1|NR_029693.1																						AGAACCGACCTTGCGGGGCCT	0.716000													14	5					0	0	0.001216	0	0
G6PC	2538	broad.mit.edu	37	17	41063431	41063431	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:41063431G>A	ENST00000253801.2	+	5	1141	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	354					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)		AGCCGCACAAGAAGTCGTTGT	0.527000													15	55					0	0	0.004990	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882549	228882549	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:228882549C>T	ENST00000392056.3	-	7	3067	c.3021G>A	c.(3019-3021)acG>acA	p.T1007T	SPHKAP_ENST00000344657.5_Silent_p.T1007T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1007						cytoplasm	protein binding			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)		GGTGCTCGTCCGTCTTCCTCT	0.517000													31	18					0	0	0.003271	0	0
TRAV34	28648	broad.mit.edu	37	14	22675459	22675459	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:22675459G>A	ENST00000390461.2	+	0	42																											TACTCCTAGGGATATTGGGGT	0.453000													15	48					0	0	0.001523	0	0
FAM135B	51059	broad.mit.edu	37	8	139165086	139165086	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:139165086C>T	ENST00000395297.1	-	13	1802	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	544										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)			CCTGTCCATCCTCTGGACCTG	0.512000										HNSCC(54;0.14)			27	26					0	0	0.005443	0	0
KCNK1	3775	broad.mit.edu	37	1	233802489	233802489	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:233802489C>T	ENST00000366621.3	+	2	672	c.504C>T	c.(502-504)ttC>ttT	p.F168F	KCNK1_ENST00000366620.1_Silent_p.F52F|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	168						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCTCTACTTCCACATCCGCT	0.607000													7	31					0	0	0.001984	0	0
CDH5	1003	broad.mit.edu	37	16	66424444	66424444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:66424444C>T	ENST00000341529.3	+	6	1068	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CDH5_ENST00000563425.2_Missense_Mutation_p.T307I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	307	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GACGCTTTCACCATTGAGACA	0.562000													9	31					0	0	0.000673	0	0
GRM7	2917	broad.mit.edu	37	3	7620747	7620747	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:7620747C>T	ENST00000486284.1	+	8	2428	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	GRM7_ENST00000402647.2_Silent_p.F718F|GRM7_ENST00000357716.4_Silent_p.F718F|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.F718F|GRM7_ENST00000389336.4_Silent_p.F718F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	718					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)	TAGGGGTGTTCATTTGGTTTG	0.443000													19	18					0	0	0.001523	0	0
GRM6	2916	broad.mit.edu	37	5	178418980	178418980	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:178418980G>A	ENST00000231188.5	-	2	787	c.609C>T	c.(607-609)gcC>gcT	p.A203A	GRM6_ENST00000517717.1_Silent_p.A203A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	203					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGTCCACCATGGCCTGCGCCT	0.612000													12	6					0	0	0.000978	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989341	22989341	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22989341C>T	ENST00000448514.1	+	2	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC2_ENST00000480559.1_Silent_p.F98F			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	98					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612000													42	54					0	0	0.003610	0	0
BRF1	2972	broad.mit.edu	37	14	105752682	105752682	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:105752682G>A	ENST00000546474.1	-	2	15175	c.216C>T	c.(214-216)ggC>ggT	p.G72G	BRF1_ENST00000327359.3_5'UTR|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000548421.1_Silent_p.G72G|BRF1_ENST00000440513.3_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	72					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCACGTGGAAGCCGCCACCCA	0.552000													12	11					0	0	0.002450	0	0
C3orf67	200844	broad.mit.edu	37	3	58853583	58853583	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:58853583C>T	ENST00000472469.1	-	9	1279	c.441G>A	c.(439-441)cgG>cgA	p.R147R	RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Silent_p.R240R|C3orf67_ENST00000295966.7_Silent_p.R240R|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	240										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TACTTTTTAACCGTAATCTTC	0.388000													19	76					0	0	0.001882	0	0
TBX3	6926	broad.mit.edu	37	12	115117417	115117417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:115117417G>A	ENST00000349155.2	-	3	1660	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	TBX3_ENST00000257566.3_Missense_Mutation_p.H253Y	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	253					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTACAATGTGGAACCGGGGC	0.443000													34	65					0	0	0.005524	0	0
LRCH4	4034	broad.mit.edu	37	7	100180065	100180065	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:100180065A>C	ENST00000310300.6	-	2	290	c.238T>G	c.(238-240)Ttt>Gtt	p.F80V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	80					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCTCGGGAAACCGGTTCCGG	0.657000													8	13					0	0	0.004482	0	0
ZNF862	643641	broad.mit.edu	37	7	149558499	149558499	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:149558499C>T	ENST00000223210.4	+	7	2495	c.2250C>T	c.(2248-2250)atC>atT	p.I750I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	750					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						ACCGGCACATCCGCACCGTCT	0.612000													21	24					0	0	0.001523	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221500	42221500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:42221500G>A	ENST00000221992.6	+	5	1199	c.1085G>A	c.(1084-1086)aGc>aAc	p.S362N	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S362N|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S361N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	362	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AATAATCAGAGCCTCCCGGTC	0.512000													66	38					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141201961	141201961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:141201961G>A	ENST00000389484.3	-	65	11203	c.10232C>T	c.(10231-10233)cCa>cTa	p.P3411L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3411	LDL-receptor class A 23.				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)		TAAGTTTACTGGGATACATTT	0.393000										TSP Lung(27;0.18)			40	26					0	0	0.001706	0	0
MYCBP2	23077	broad.mit.edu	37	13	77661649	77661649	+	Silent	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:77661649T>C	ENST00000407578.2	-	62	11111	c.10845A>G	c.(10843-10845)gaA>gaG	p.E3615E	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000544440.2_Silent_p.E3577E|MYCBP2_ENST00000357337.6_Silent_p.E3577E|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3577					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)		TTGTTTTATTTTCTTCATCCT	0.353000													7	8					0	0	0.004482	0	0
SYCP1	6847	broad.mit.edu	37	1	115537595	115537595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:115537595G>A	ENST00000369522.3	+	32	3126	c.2886G>A	c.(2884-2886)atG>atA	p.M962I	SYCP1_ENST00000369518.1_Missense_Mutation_p.M962I|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	962	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.M962I(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|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)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCTAAAATGGATAGAAAAA	0.363000													30	15					0	0	0.001786	0	0
SLC3A1	6519	broad.mit.edu	37	2	44540973	44540973	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:44540973G>A	ENST00000260649.6	+	9	1576		c.e9-1		SLC3A1_ENST00000409740.3_Splice_Site|SLC3A1_ENST00000409387.1_Splice_Site|SLC3A1_ENST00000409294.1_Splice_Site|SLC3A1_ENST00000409229.3_Splice_Site|SLC3A1_ENST00000409380.1_Splice_Site	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTTGACATAGAATACCCTTC	0.378000													8	29					0	0	0.004482	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232978	1232978	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:1232978C>T	ENST00000324642.3	+	3	537	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SLC6A18_ENST00000296821.4_Silent_p.S138S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	138					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGAGCTCCTGCCCACCGG	0.632000													4	31					0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	41725524	41725524	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:41725524A>T	ENST00000400454.1	-	5	1279	c.802T>A	c.(802-804)Tca>Aca	p.S268T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	268	Ig-like C2-type 3.				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)				AACCTCCCTGAAAGTTCCAGG	0.577000													12	11					0	0	0.000978	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203729	5203729	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:5203729C>T	ENST00000334314.3	-	4	456	c.378_splice	c.e4-1	p.G127_splice						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCAGGAAGAACCCTGGAAACC	0.393000													21	35					0	0	0.003330	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:25670232C>T	ENST00000377961.2	+	6	567	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000													53	236					0	0	0.003610	0	0
OR4K5	79317	broad.mit.edu	37	14	20388835	20388835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:20388835C>T	ENST00000315915.4	+	1	95	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAAAAACTCCAGCTTTTCTA	0.403000													12	88					0	0	0.001368	0	0
FAM83C	128876	broad.mit.edu	37	20	33879806	33879806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:33879806C>T	ENST00000374408.3	-	1	398	c.302G>A	c.(301-303)gGg>gAg	p.G101E		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	101										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)			GCGGTCTGGCCCGGAGGCCTC	0.672000													13	16					0	0	0.001368	0	0
AC096579.13	0	broad.mit.edu	37	2	89117905	89117905	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:89117905G>A	ENST00000452230.1	-	0	77																											TTGCTACCTGGGTGGTGGCTA	0.458000													5	8					0	0	0.001984	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864564	131864564	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:131864564G>A	ENST00000359827.3	-	20	4718	c.3756C>T	c.(3754-3756)ttC>ttT	p.F1252F	PLXNA4_ENST00000321063.4_Silent_p.F1252F			Q9HCM2	PLXA4_HUMAN	plexin A4	1252						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						CGGCCACGATGAAAATGATGA	0.612000													9	8					0	0	0.004482	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843294	22843294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:22843294G>A	ENST00000360412.2	-	4	1205	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZNF280B_ENST00000406426.1_Missense_Mutation_p.P144S	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTAATCAAAGGAGAAGGTAAT	0.358000													23	95					0	0	0.002299	0	0
CCSER1	401145	broad.mit.edu	37	4	91230275	91230275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:91230275G>A	ENST00000509176.1	+	2	1128	c.840G>A	c.(838-840)atG>atA	p.M280I	CCSER1_ENST00000333691.8_Missense_Mutation_p.M280I|CCSER1_ENST00000432775.2_Missense_Mutation_p.M280I	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GTGGAAGCATGGCATCCCACT	0.428000													78	115					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179646961	179646961	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:179646961C>A	ENST00000589042.1	-	20	3582	c.3358G>T	c.(3358-3360)Gtt>Ttt	p.V1120F	TTN_ENST00000342175.6_Missense_Mutation_p.V1074F|TTN_ENST00000591111.1_Missense_Mutation_p.V1120F|TTN_ENST00000460472.2_Missense_Mutation_p.V1074F|TTN_ENST00000360870.5_Missense_Mutation_p.V1120F|TTN_ENST00000359218.5_Missense_Mutation_p.V1074F|TTN_ENST00000342992.6_Missense_Mutation_p.V1120F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1120	Ig-like 4.						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)			GTTAGAGGAACACCAGATTTT	0.453000													14	10					1.52009e-12	2.63032e-12	0.003163	1	0
SEC14L3	266629	broad.mit.edu	37	22	30864607	30864607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:30864607C>T	ENST00000403066.1	-	6	417	c.134G>A	c.(133-135)gGg>gAg	p.G45E	SEC14L3_ENST00000401751.1_Missense_Mutation_p.G45E|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G104E|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G27E|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G27E|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G45E|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G45E			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	104						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATCAAGTGGCCCAATGATGTC	0.552000													32	36					0	0	0.004878	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611017	37611017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:37611017C>A	ENST00000276461.5	+	11	856	c.789C>A	c.(787-789)taC>taA	p.Y263*	ERLIN2_ENST00000519638.1_Nonsense_Mutation_p.Y263*	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	263	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGAGTGCTACACTGCTATGA	0.498000													9	21					1.58986e-06	2.7391e-06	0.000673	1	0
OR1C1	26188	broad.mit.edu	37	1	247920864	247920864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:247920864G>A	ENST00000408896.2	-	1	1118	c.845C>T	c.(844-846)gCt>gTt	p.A282V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGCATCGGAGCCACCATTGA	0.473000													37	44					0	0	0.001706	0	0
MYT1L	23040	broad.mit.edu	37	2	1983500	1983500	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:1983500A>G	ENST00000399161.2	-	6	797	c.50T>C	c.(49-51)gTt>gCt	p.V17A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V17A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	17					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATACCTCGAACCCCTTTGGA	0.592000													5	7					0	0	0.000602	0	0
ZFAT	57623	broad.mit.edu	37	8	135649863	135649863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:135649863G>A	ENST00000520727.1	-	4	552	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	ZFAT_ENST00000429442.2_Missense_Mutation_p.P85S|ZFAT_ENST00000520356.1_Missense_Mutation_p.P85S|ZFAT_ENST00000520214.1_Missense_Mutation_p.P85S|ZFAT_ENST00000523399.1_Missense_Mutation_p.P97S|ZFAT_ENST00000377838.3_Missense_Mutation_p.P97S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCTCAGTCGGACTCACGATG	0.567000													22	30					0	0	0.002780	0	0
LIFR	3977	broad.mit.edu	37	5	38506053	38506053	+	Silent	SNP	C	C	T	rs139809889		TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:38506053C>T	ENST00000263409.4	-	9	1407	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	LIFR_ENST00000453190.2_Silent_p.P415P|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	415	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCGACCCAGCGGATTGTGAG	0.294000			T	PLAG1	salivary adenoma								37	132					0	0	0.002222	0	0
CEP97	79598	broad.mit.edu	37	3	101476030	101476030	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:101476030C>T	ENST00000341893.3	+	8	1769	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	CEP97_ENST00000494050.1_Silent_p.S339S|CEP97_ENST00000327230.4_Silent_p.S339S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	339	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGATATCCCAGGAAAGTG	0.388000													13	53					0	0	0.002450	0	0
MYT1L	23040	broad.mit.edu	37	2	1926200	1926200	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:1926200G>A	ENST00000399161.2	-	10	2088	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MYT1L_ENST00000428368.2_Silent_p.A447A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	447					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTCCCTCATGGCCTTTGCTC	0.542000													39	60					0	0	0.003214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768292	77768292	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:77768292G>A	ENST00000521891.2	+	10	9583	c.9135G>A	c.(9133-9135)cgG>cgA	p.R3045R	ZFHX4_ENST00000455469.2_Silent_p.R3000R|ZFHX4_ENST00000518282.1_Silent_p.R3019R|ZFHX4_ENST00000050961.6_Silent_p.R3000R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3000						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTCGATCGGGAGAAAGATT	0.517000										HNSCC(33;0.089)			16	46					0	0	0.004990	0	0
UNC79	57578	broad.mit.edu	37	14	94089130	94089130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:94089130G>A	ENST00000553484.1	+	31	5771	c.5617G>A	c.(5617-5619)Gag>Aag	p.E1873K	UNC79_ENST00000256339.4_Missense_Mutation_p.E1674K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1851K|UNC79_ENST00000393151.2_Missense_Mutation_p.E1851K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1851						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATCCAGAGAGAGTACCTCGA	0.463000													10	46					0	0	0.000673	0	0
AICDA	57379	broad.mit.edu	37	12	8757408	8757408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:8757408G>A	ENST00000229335.6	-	4	641	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	AICDA_ENST00000537228.1_Missense_Mutation_p.L170F	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	180					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.L180I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTTACCAAAAGGATGCGCCGA	0.388000													66	85					0	0	0.003610	0	0
C19orf45	374877	broad.mit.edu	37	19	7573212	7573212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:7573212G>A	ENST00000361664.2	+	9	1555	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	472										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						AAATCCTCAGGAGGGCTTCGT	0.612000													14	16					0	0	0.003163	0	0
FOXD4	2298	broad.mit.edu	37	9	117901	117901	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:117901G>A	ENST00000382500.2	-	1	516	c.219C>T	c.(217-219)ggC>ggT	p.G73G		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	73					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCGGGCCGCCGCCGCCCTCGA	0.721000													25	2					0	0	0.002836	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661858	77661858	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr4:77661858G>A	ENST00000296043.6	+	5	3485	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	844					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TAGGCAACGGGGAGCAGCACT	0.592000													16	38					0	0	0.000958	0	0
AFF3	3899	broad.mit.edu	37	2	100170902	100170902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:100170902G>A	ENST00000317233.4	-	23	3665	c.3430C>T	c.(3430-3432)Ccg>Tcg	p.P1144S	AFF3_ENST00000409579.1_Missense_Mutation_p.P1169S|AFF3_ENST00000409236.1_Missense_Mutation_p.P1144S|AFF3_ENST00000356421.2_Missense_Mutation_p.P1169S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATGGTCGACGGGGACAGGGCG	0.637000													8	17					0	0	0.003080	0	0
KRT33A	3883	broad.mit.edu	37	17	39506842	39506842	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:39506842T>G	ENST00000007735.3	-	1	222	c.178A>C	c.(178-180)Atg>Ctg	p.M60L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	60	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGAACTGCATGGTCTCCTTC	0.627000													47	51					0	0	0.003610	0	0
FARSA	2193	broad.mit.edu	37	19	13041248	13041248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:13041248G>A	ENST00000588025.1	-	4	639	c.499C>T	c.(499-501)Cga>Tga	p.R167*	FARSA_ENST00000423140.2_Nonsense_Mutation_p.R127*|FARSA_ENST00000314606.4_Nonsense_Mutation_p.R127*			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	127					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)	CGCACCACTCGGAACACCCGG	0.642000													18	48					0	0	0.001882	0	0
LHX8	431707	broad.mit.edu	37	1	75608860	75608860	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:75608860C>T	ENST00000294638.5	+	6	1111	c.447C>T	c.(445-447)gtC>gtT	p.V149V	LHX8_ENST00000356261.3_Silent_p.V139V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	149	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGACTGGGTCCGGAGAGCCA	0.468000													16	39					0	0	0.006122	0	0
TTC3	7267	broad.mit.edu	37	21	38538329	38538329	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:38538329C>T	ENST00000399017.2	+	33	6560	c.3813C>T	c.(3811-3813)ccC>ccT	p.P1271P	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.P1271P|TTC3_ENST00000354749.2_Silent_p.P1271P	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1271					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGGGCAACCCAAAGGGGTCT	0.468000													58	37					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21098222	21098222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:21098222G>A	ENST00000261383.3	-	19	2824	c.2825C>T	c.(2824-2826)cCc>cTc	p.P942L	DNAH3_ENST00000415178.1_Missense_Mutation_p.P942L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	942	Stem (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)		ACTGAGGATGGGAATGTACTG	0.512000													41	160					0	0	0.003610	0	0
ARSH	347527	broad.mit.edu	37	X	2942108	2942108	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:2942108C>T	ENST00000381130.2	+	6	948	c.948C>T	c.(946-948)acC>acT	p.T316T		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	316						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				CCAACCACACCTTGGTGTACT	0.577000													8	6					0	0	0.000443	0	0
ATM	472	broad.mit.edu	37	11	108121480	108121480	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:108121480T>A	ENST00000278616.4	+	10	1673	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S	ATM_ENST00000452508.2_Missense_Mutation_p.C430S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	430					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)		TTTACCTAACTGTGAGCTGTC	0.378000			"""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)			20	26					0	0	0.001882	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868621	112868621	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112868621T>G	ENST00000161863.4	+	5	934	c.721T>G	c.(721-723)Tgc>Ggc	p.C241G	YTHDC2_ENST00000515883.1_Missense_Mutation_p.C241G	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	241	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGTATCCCCTGCCGTATATT	0.378000													35	23					0	0	0.001951	0	0
TRPM6	140803	broad.mit.edu	37	9	77377950	77377950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:77377950C>T	ENST00000451710.3	-	26	3874	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	TRPM6_ENST00000360774.1_Missense_Mutation_p.D1213N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1208N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1208N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1213N|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCAGAGAGATCCTGCAGGTGT	0.468000													36	26					0	0	0.004289	0	0
PURB	5814	broad.mit.edu	37	7	44924288	44924288	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:44924288C>T	ENST00000395699.2	-	1	672	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	220	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						AGGTGCCCTCCGGGAGCTCTC	0.662000													18	34					0	0	0.001216	0	0
KMT2A	4297	broad.mit.edu	37	11	118343788	118343788	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:118343788C>T	ENST00000534358.1	+	3	1937	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	KMT2A_ENST00000389506.5_Silent_p.A638A|KMT2A_ENST00000354520.4_Silent_p.A638A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAAAGTATGCCAAAGAAGGTC	0.428000													20	29					0	0	0.001523	0	0
RAG1	5896	broad.mit.edu	37	11	36596675	36596675	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:36596675C>T	ENST00000299440.5	+	2	1933	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	607					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGGGAGACGTGAGTGAGA	0.468000									Familial Hemophagocytic Lymphohistiocytosis				15	28					0	0	0.003163	0	0
FBXO43	286151	broad.mit.edu	37	8	101146277	101146277	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:101146277A>G	ENST00000428847.2	-	5	2196	c.1878_splice	c.e5-1	p.V627_splice		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	627					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGTTTTGGCAACCTGCAGTGA	0.383000													13	58					0	0	0.002450	0	0
DOCK2	1794	broad.mit.edu	37	5	169141077	169141077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:169141077C>T	ENST00000256935.8	+	18	1785	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.P61S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	569	DHR-1.				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)			CCTGACCCTTCCTTCTTATCG	0.567000													12	34					0	0	0.001368	0	0
BIRC6	57448	broad.mit.edu	37	2	32724829	32724829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32724829G>A	ENST00000421745.2	+	46	8818	c.8684G>A	c.(8683-8685)gGa>gAa	p.G2895E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2895					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)					TGCTTTGGGGGACTCTTTGCC	0.418000													46	87					0	0	0.003610	0	0
WDR3	10885	broad.mit.edu	37	1	118494990	118494990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:118494990C>T	ENST00000349139.4	+	18	2022	c.1975C>T	c.(1975-1977)Cag>Tag	p.Q659*		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	659						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAAGATTAAACAGTGGGATGC	0.373000													26	248					0	0	0.004656	0	0
STT3B	201595	broad.mit.edu	37	3	31658501	31658501	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:31658501T>A	ENST00000295770.2	+	7	1266	c.1057T>A	c.(1057-1059)Ttc>Atc	p.F353I	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	353					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CCAGACCCTTTTCTTTTTGGG	0.403000													112	121					0	0	0.003610	0	0
RUVBL2	10856	broad.mit.edu	37	19	49502594	49502594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49502594C>T	ENST00000595090.1	+	2	495	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RUVBL2_ENST00000601968.1_5'UTR|RUVBL2_ENST00000598768.1_3'UTR|RUVBL2_ENST00000413176.2_5'UTR	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	11					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AACCAAAGTCCCGGAGATCCG	0.552000													16	51					0	0	0.001523	0	0
KCNH6	81033	broad.mit.edu	37	17	61611254	61611254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61611254C>T	ENST00000583023.1	+	5	694	c.683C>T	c.(682-684)tCc>tTc	p.S228F	KCNH6_ENST00000456941.2_Missense_Mutation_p.S228F|KCNH6_ENST00000580652.1_Missense_Mutation_p.S228F|KCNH6_ENST00000314672.5_Missense_Mutation_p.S228F|KCNH6_ENST00000581784.1_Missense_Mutation_p.S228F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	228					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)	CAGGTCCTGTCCCTGGGCGCG	0.687000													13	49					0	0	0.001368	0	0
TAF3	83860	broad.mit.edu	37	10	8051254	8051254	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:8051254C>T	ENST00000344293.5	+	5	2735	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	843					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CCAAAGCCCCCGTGCGCAGCG	0.721000													4	4					0	0	0.000248	0	0
ARMC4	55130	broad.mit.edu	37	10	28233806	28233806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:28233806C>T	ENST00000305242.5	-	11	1564	c.1472G>A	c.(1471-1473)aGa>aAa	p.R491K	ARMC4_ENST00000537576.1_Missense_Mutation_p.R183K|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_Missense_Mutation_p.R16K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	491							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCAACATCTCTGATGGCCAA	0.458000													8	56					0	0	0.003080	0	0
DCX	1641	broad.mit.edu	37	X	110644262	110644262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:110644262C>T	ENST00000338081.3	-	3	1075	c.904G>A	c.(904-906)Gag>Aag	p.E302K	DCX_ENST00000488120.1_Missense_Mutation_p.E221K|DCX_ENST00000371993.2_Missense_Mutation_p.E221K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.E221K|DCX_ENST00000356915.2_Missense_Mutation_p.E221K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	302	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCGGTCTCCAGTTTGATG	0.443000													62	2					0	0	0.003610	0	0
TCEA2	6919	broad.mit.edu	37	20	62699471	62699471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:62699471G>A	ENST00000395053.3	+	4	468	c.313G>A	c.(313-315)Gag>Aag	p.E105K	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.E105K|TCEA2_ENST00000361317.2_Missense_Mutation_p.E78K			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	105					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGATGCCTCAGAGGCCCCGGA	0.622000													7	10					0	0	0.003080	0	0
SI	6476	broad.mit.edu	37	3	164737500	164737500	+	Missense_Mutation	SNP	G	G	A	rs138397431	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:164737500G>A	ENST00000264382.3	-	28	3375	c.3313C>T	c.(3313-3315)Cgc>Tgc	p.R1105C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1105	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1105C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATGGCAGGCGAGTCGATATT	0.383000										HNSCC(35;0.089)			27	37					0	0	0.001512	0	0
RTBDN	83546	broad.mit.edu	37	19	12945611	12945611	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:12945611G>A	ENST00000589272.1	-	2	395	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RTBDN_ENST00000322912.5_Silent_p.L22L|RTBDN_ENST00000393233.2_5'UTR|MAST1_ENST00000591495.1_Intron			Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCAAGGTGGGGAGGGATTCTG	0.587000													10	33					0	0	0.000673	0	0
NCOR2	9612	broad.mit.edu	37	12	124824629	124824629	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124824629C>T	ENST00000356219.3	-	38	5786	c.5631G>A	c.(5629-5631)caG>caA	p.Q1877Q	NCOR2_ENST00000404121.2_Silent_p.Q1431Q|NCOR2_ENST00000397355.1_Silent_p.Q1861Q|NCOR2_ENST00000404621.1_Silent_p.Q1860Q|NCOR2_ENST00000405201.1_Silent_p.Q1870Q|NCOR2_ENST00000429285.2_Silent_p.Q1860Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1881					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)		CACTGGGTCTCTGCTGGAGGG	0.687000													10	35					0	0	0.001368	0	0
C8B	732	broad.mit.edu	37	1	57425765	57425765	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:57425765G>A	ENST00000543257.1	-	3	587	c.21C>T	c.(19-21)acC>acT	p.T7T	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Silent_p.T59T|C8B_ENST00000494324.1_5'UTR	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	59					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.T59T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGGCATCAGGGTAACATCCA	0.483000													29	16					0	0	0.001512	0	0
FHL5	9457	broad.mit.edu	37	6	97053856	97053856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:97053856G>A	ENST00000326771.2	+	5	793	c.413G>A	c.(412-414)gGg>gAg	p.G138E	FHL5_ENST00000541107.1_Missense_Mutation_p.G138E	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	138	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAACCTATAGGGACAAAGCCT	0.413000													9	25					0	0	0.004482	0	0
UACA	55075	broad.mit.edu	37	15	70960839	70960839	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:70960839G>A	ENST00000322954.6	-	16	2369	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	UACA_ENST00000539319.1_Silent_p.L619L|UACA_ENST00000560441.1_Silent_p.L713L|UACA_ENST00000379983.2_Silent_p.L715L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	728						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCTCCTTGAGGAGCTTATTAT	0.308000													38	45					0	0	0.003755	0	0
CHD7	55636	broad.mit.edu	37	8	61693655	61693655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:61693655C>T	ENST00000423902.2	+	3	2241	c.1762C>T	c.(1762-1764)Cca>Tca	p.P588S	CHD7_ENST00000525508.1_Missense_Mutation_p.P588S|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	588					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGATTACCTGCCATCAATAGA	0.453000													5	16					0	0	0.000602	0	0
DISP2	85455	broad.mit.edu	37	15	40659789	40659789	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:40659789C>T	ENST00000267889.3	+	8	1563	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	492	SSD.				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)		CGGTGTACCCCTTGCTGGCTC	0.622000													36	38					0	0	0.004289	0	0
DBX1	120237	broad.mit.edu	37	11	20178601	20178601	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:20178601C>T	ENST00000524983.2	-	3	942	c.654G>A	c.(652-654)ctG>ctA	p.L218L	DBX1_ENST00000227256.3_Silent_p.L218L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	218					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CTTTCAGGCCCAGCTTGGCCG	0.642000													7	50					0	0	0.000673	0	0
PIM1	5292	broad.mit.edu	37	6	37140845	37140845	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:37140845C>T	ENST00000373509.5	+	5	1054	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	318	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGTCTGGTCCCTGGGGATCC	0.542000			T	BCL6	NHL								27	67					0	0	0.003954	0	0
LOC286238	286238	broad.mit.edu	37	9	91266959	91266959	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:91266959G>A	ENST00000418343.2	-	0	92																											AGATGTATAAGGAGCATATAC	0.433000													10	9					0	0	0.000443	0	0
NGLY1	55768	broad.mit.edu	37	3	25761670	25761670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:25761670G>A	ENST00000428257.1	-	11	1677	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R500*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.R542*|NGLY1_ENST00000396649.3_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	542	PAW.				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						CCTTCCTTTCGGGCCAAATAT	0.363000													21	19					0	0	0.001523	0	0
TRPV2	51393	broad.mit.edu	37	17	16340158	16340158	+	Silent	SNP	C	C	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:16340158C>A	ENST00000338560.7	+	15	2649	c.2250C>A	c.(2248-2250)gcC>gcA	p.A750A	TRPV2_ENST00000577397.1_Silent_p.A320A	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	750					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGGATGGTGCCTCTGAGGAAA	0.552000													28	31					2.49534e-26	4.34249e-26	0.002096	1	0
EMR3	84658	broad.mit.edu	37	19	14744099	14744099	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:14744099C>T	ENST00000253673.5	-	12	1600	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	EMR3_ENST00000599900.1_Silent_p.L285L|EMR3_ENST00000443157.2_Silent_p.L374L|EMR3_ENST00000344373.4_Silent_p.L448L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	500					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATCCCTGGTCCAGGTGGAGCC	0.463000													5	8					0	0	0.000602	0	0
ERC2	26059	broad.mit.edu	37	3	56330152	56330152	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:56330152C>T	ENST00000288221.6	-	3	1224	c.969G>A	c.(967-969)gaG>gaA	p.E323E		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	323						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATTGTCATCCTCCAGGCTTT	0.443000													94	100					0	0	0.003610	0	0
GINM1	116254	broad.mit.edu	37	6	149901049	149901049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:149901049C>T	ENST00000367419.5	+	5	630	c.509C>T	c.(508-510)cCt>cTt	p.P170L		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TATACCCTCCCTTTGGAAGAA	0.348000													50	48					0	0	0.003610	0	0
ROBO2	6092	broad.mit.edu	37	3	77147229	77147229	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:77147229C>T	ENST00000461745.1	+	2	1026	c.126C>T	c.(124-126)gtC>gtT	p.V42V	ROBO2_ENST00000332191.8_Silent_p.V42V|ROBO2_ENST00000487694.3_Silent_p.V58V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	42	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGTCATCGTCTCTAAGGGCG	0.557000													8	7					0	0	0.000443	0	0
KCNK5	8645	broad.mit.edu	37	6	39196866	39196866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:39196866G>A	ENST00000359534.3	-	1	360	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	8					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCGAGGTGAGCAGAGGGCCC	0.632000													8	34					0	0	0.000673	0	0
TATDN2	9797	broad.mit.edu	37	3	10311828	10311828	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr3:10311828A>G	ENST00000287652.4	+	4	2013	c.962A>G	c.(961-963)gAg>gGg	p.E321G	TATDN2_ENST00000448281.2_Missense_Mutation_p.E321G|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	321						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AAAGATAGGGAGGTGGTGATG	0.507000													13	62					0	0	0.001855	0	0
ERCC6	2074	broad.mit.edu	37	10	50682166	50682166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:50682166C>T	ENST00000355832.5	-	13	2583	c.2505G>A	c.(2503-2505)tgG>tgA	p.W835*	ERCC6_ENST00000542458.1_Nonsense_Mutation_p.W205*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	835					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						CAGAACGTTTCCAGTACCCAA	0.423000								Direct reversal of damage;Nucleotide excision repair (NER)					23	52					0	0	0.001882	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445766	29445766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr22:29445766C>T	ENST00000544604.2	+	8	1772	c.1597C>T	c.(1597-1599)Cac>Tac	p.H533Y	ZNRF3_ENST00000406323.3_Missense_Mutation_p.H433Y|ZNRF3_ENST00000402174.1_Missense_Mutation_p.H433Y|ZNRF3_ENST00000332811.4_Missense_Mutation_p.H433Y	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	533						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGCTGCTATCACGGCCACCG	0.687000													9	6					0	0	0.000443	0	0
CDK18	5129	broad.mit.edu	37	1	205499796	205499796	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:205499796G>A	ENST00000360066.2	+	15	1654	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	CDK18_ENST00000506784.1_Silent_p.K481K|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.K451K	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	449							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGCTCCAGAAGGACCCAGGCT	0.622000													4	20					0	0	0.000602	0	0
COL14A1	7373	broad.mit.edu	37	8	121379423	121379423	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:121379423C>T	ENST00000297848.3	+	46	5361	c.5091C>T	c.(5089-5091)atC>atT	p.I1697I	COL14A1_ENST00000309791.4_Silent_p.I1697I|COL14A1_ENST00000247781.3_Silent_p.I1602I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1697	Triple-helical region 2 (COL1).				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)			TAACTGGTATCAAAGGAGAAA	0.378000													19	19					0	0	0.001216	0	0
FAM120A	23196	broad.mit.edu	37	9	96320190	96320190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:96320190C>T	ENST00000277165.6	+	14	2760	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	FAM120A_ENST00000340893.4_Missense_Mutation_p.P856S|FAM120A_ENST00000333936.5_Missense_Mutation_p.P884S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	856	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCACACGCTCCCTTTCCCGCC	0.657000													10	13					0	0	0.000443	0	0
PSD4	23550	broad.mit.edu	37	2	113955427	113955427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:113955427C>T	ENST00000245796.6	+	14	2756	c.2561C>T	c.(2560-2562)aCc>aTc	p.T854I	PSD4_ENST00000441564.2_Missense_Mutation_p.T825I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	854	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGCATTACACCAAGAAGCCG	0.652000													3	7					0	0	0.000248	0	0
ADAM33	80332	broad.mit.edu	37	20	3655171	3655171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr20:3655171G>A	ENST00000356518.2	-	6	821	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ADAM33_ENST00000379861.4_Missense_Mutation_p.P194S|ADAM33_ENST00000350009.2_Missense_Mutation_p.P194S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGACCACCAGGAAGGCTGGTC	0.572000													13	30					0	0	0.004007	0	0
OR4S2	219431	broad.mit.edu	37	11	55418543	55418543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:55418543C>T	ENST00000312422.2	+	1	164	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTGTTTAAGTCACCCATGTAT	0.393000													40	1					0	0	0.002522	0	0
COL5A1	1289	broad.mit.edu	37	9	137620602	137620602	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:137620602C>T	ENST00000371817.3	+	6	1287	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	291	Nonhelical 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)		AGGAGCCCACCCCCAGCAAGA	0.607000													32	39					0	0	0.004289	0	0
CARD11	84433	broad.mit.edu	37	7	2985573	2985573	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:2985573G>A	ENST00000396946.4	-	4	641	c.238C>T	c.(238-240)Cta>Tta	p.L80L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	80	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTATGTAGAATGTCCAAC	0.493000			Mis		DLBCL								70	76					0	0	0.003610	0	0
TPH2	121278	broad.mit.edu	37	12	72338092	72338092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:72338092G>A	ENST00000333850.3	+	3	415	c.274G>A	c.(274-276)Gtt>Att	p.V92I	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	92	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGTCAACATGGTTCATATTGA	0.408000													26	13					0	0	0.001271	0	0
GAB2	9846	broad.mit.edu	37	11	77931434	77931434	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:77931434C>T	ENST00000361507.4	-	9	1903	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	GAB2_ENST00000340149.2_Silent_p.K568K	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	606					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGCTCTTCTTAGGGGCAG	0.577000													14	38					0	0	0.002450	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176468	140176468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:140176468C>T	ENST00000526136.1	+	1	1919	c.1919C>T	c.(1918-1920)gCt>gTt	p.A640V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A640V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A640V	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)			CTAGACGAGGCTGACTCCCCT	0.622000													15	29					0	0	0.003163	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611016	37611016	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr8:37611016A>G	ENST00000276461.5	+	11	855	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	ERLIN2_ENST00000519638.1_Missense_Mutation_p.Y263C	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	263	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCTGAGTGCTACACTGCTATG	0.493000													9	22					0	0	0.000673	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038253	16038253	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:16038253C>T	ENST00000326742.7	-	3	385	c.384G>A	c.(382-384)ctG>ctA	p.L128L	CYP4F11_ENST00000402119.3_Silent_p.L128L|CYP4F11_ENST00000248041.7_Silent_p.L128L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	128					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCCAGGGCTTCAGGAAGCCAT	0.532000													83	84					0	0	0.003610	0	0
MADCAM1	8174	broad.mit.edu	37	19	498503	498503	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:498503G>A	ENST00000215637.3	+	3	391	c.345G>A	c.(343-345)ccG>ccA	p.P115P	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.P115P|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Silent_p.P20P	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	115	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		CAGCCTTCCCGGACCAGCTGA	0.706000													10	13					0	0	0.001368	0	0
ALPL	249	broad.mit.edu	37	1	21887146	21887146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:21887146G>A	ENST00000374840.3	+	3	339	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	ALPL_ENST00000374832.1_Missense_Mutation_p.R30Q|ALPL_ENST00000425315.2_Missense_Mutation_p.R30Q|ALPL_ENST00000539907.1_5'UTR|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_5'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	30					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AAGTACTGGCGAGACCAAGCG	0.517000													14	26					0	0	0.002450	0	0
APCS	325	broad.mit.edu	37	1	159558477	159558477	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:159558477C>T	ENST00000255040.2	+	2	748	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	217	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ATGTCATCATCAAACCCTTGG	0.463000													41	40					0	0	0.003610	0	0
RSPH1	89765	broad.mit.edu	37	21	43897548	43897548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr21:43897548C>T	ENST00000291536.3	-	7	747	c.580G>A	c.(580-582)Gga>Aga	p.G194R	RSPH1_ENST00000398352.3_Missense_Mutation_p.G156R	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	194					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCCTCTTCTCCTCTTTCCTAT	0.393000													18	32					0	0	0.002299	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499502	59499502	+	Silent	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:59499502G>A	ENST00000307144.4	+	1	461	c.363G>A	c.(361-363)acG>acA	p.T121T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	121					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCCCTTTCACGAAAATGCCAA	0.428000													21	66					0	0	0.001523	0	0
COL17A1	1308	broad.mit.edu	37	10	105824312	105824312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:105824312G>A	ENST00000353479.5	-	10	940	c.650C>T	c.(649-651)cCc>cTc	p.P217L	COL17A1_ENST00000393211.3_Missense_Mutation_p.P217L|COL17A1_ENST00000369733.3_Missense_Mutation_p.P217L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	217	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|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)		CACATGGGAGGGAAGGTTGGC	0.572000													7	6					0	0	0.001984	0	0
TRAF5	7188	broad.mit.edu	37	1	211534078	211534078	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:211534078T>A	ENST00000261464.5	+	6	632	c.578T>A	c.(577-579)gTa>gAa	p.V193E	TRAF5_ENST00000367004.3_Missense_Mutation_p.V193E|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Missense_Mutation_p.V193E	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	193					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			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)		GAATACCCAGTATTTTGTCCC	0.353000													25	33					0	0	0.001271	0	0
ALOX5	240	broad.mit.edu	37	10	45878075	45878075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:45878075C>T	ENST00000374391.2	+	2	348	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	ALOX5_ENST00000542434.1_Missense_Mutation_p.P99S	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	99	PLAT.				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)	CATCGAGTTCCCCTGCTACCG	0.602000													4	9					0	0	0.000248	0	0
RRM1	6240	broad.mit.edu	37	11	4147981	4147981	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:4147981T>A	ENST00000300738.5	+	13	1592	c.1388T>A	c.(1387-1389)tTt>tAt	p.F463Y	RRM1_ENST00000534285.1_Missense_Mutation_p.F241Y|RRM1_ENST00000423050.2_Missense_Mutation_p.F366Y|RRM1_ENST00000537197.1_Missense_Mutation_p.F125Y	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	463					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACATACGACTTTAAGAAGTTG	0.373000													20	33					0	0	0.002299	0	0
EDIL3	10085	broad.mit.edu	37	5	83360633	83360633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:83360633G>A	ENST00000296591.5	-	8	1256	c.838C>T	c.(838-840)Cca>Tca	p.P280S	EDIL3_ENST00000380138.3_Missense_Mutation_p.P270S|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	280	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTAGCATATGGAGTGTTGTTA	0.368000													10	29					0	0	0.002450	0	0
MANEA	79694	broad.mit.edu	37	6	96053773	96053773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:96053773C>T	ENST00000358812.4	+	5	1015	c.881C>T	c.(880-882)cCt>cTt	p.P294L	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	294	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)		CGCAATTCTCCTTATGATGGA	0.368000													15	46					0	0	0.003163	0	0
ZNF407	55628	broad.mit.edu	37	18	72347586	72347586	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr18:72347586C>T	ENST00000299687.5	+	1	4611	c.4611C>T	c.(4609-4611)aaC>aaT	p.N1537N	ZNF407_ENST00000577538.1_Silent_p.N1537N|ZNF407_ENST00000582337.1_Silent_p.N1537N|ZNF407_ENST00000309902.6_Silent_p.N1537N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1537					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)		ACCAGGGAAACGTCTGCAAGT	0.488000													18	15					0	0	0.006122	0	0
RPL13A	23521	broad.mit.edu	37	19	49995048	49995048	+	Silent	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49995048C>T	ENST00000391857.4	+	8	664	c.588C>T	c.(586-588)ctC>ctT	p.L196L	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	196					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		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;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAGAGGTCCTCAAGACCCACG	0.527000													21	4					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	8976277	8976277	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:8976277T>C	ENST00000397910.4	-	75	42754	c.42551A>G	c.(42550-42552)gAt>gGt	p.D14184G	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.D825G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14215	SEA 14.			Missing (in Ref. 3; AAK74120).	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						GAAGAGGCTATCCCTGTCCAG	0.512000													8	14					0	0	0.000443	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170023	20170023	+	RNA	SNP	G	G	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:20170023G>A	ENST00000338912.5	-	0	248																											CTCTGCCCTGGAACTTCTGTG	0.547000													24	96					0	0	0.003330	0	0
DNAH10	196385	broad.mit.edu	37	12	124409633	124409633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr12:124409633C>T	ENST00000409039.3	+	67	11474	c.11449C>T	c.(11449-11451)Ccc>Tcc	p.P3817S	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3817					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTTCCCGTCCCCTTGGGTTA	0.473000													13	18					0	0	0.001855	0	0
PHKA1	5255	broad.mit.edu	37	X	71925051	71925051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:71925051C>T	ENST00000373545.3	-	3	719	c.281G>A	c.(280-282)aGa>aAa	p.R94K	PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000339490.3_Missense_Mutation_p.R94K|PHKA1_ENST00000541944.1_Missense_Mutation_p.R94K|PHKA1_ENST00000373542.4_Missense_Mutation_p.R94K|PHKA1_ENST00000373539.3_Missense_Mutation_p.R94K			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	94					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATACCTGTCTGATCATGCA	0.363000													20	16					0	0	0.002780	0	0
FOXD2	2306	broad.mit.edu	37	1	47905020	47905020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:47905020delG	ENST00000334793.5	+	1	3332	c.1213delG	c.(1213-1215)ggfs	p.G405fs		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	405	Ala-rich.|Gly-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			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CGGGGGCGCCGGGGCAGGGCA	0.766													2	4	---	---	---	---					
GPR61	83873	broad.mit.edu	37	1	110085890	110085905	+	Frame_Shift_Del	DEL	CTGCCTGGTGGACCTG	CTGCCTGGTGGACCTG	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr1:110085890_110085905delCTGCCTGGTGGACCTG	ENST00000527748.1	+	2	929_944	c.246_261delCTGCCTGGTGGACCTG	c.(244-261)ctfs	p.LCLVDL82fs	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	82						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D86G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCCACCTCTGCCTGGTGGACCTGCTGGCTGCCC	0.616													23	33	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32828074	32828074	+	Splice_Site	DEL	T	T	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr2:32828074delT	ENST00000421745.2	+	71	14128	c.13992_splice	c.e71-1	p.V4665_splice		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4665	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)					GTTCGTCAGGTTTGTTTAAGC	0.343													14	48	---	---	---	---					
YTHDC2	64848	broad.mit.edu	37	5	112874846	112874846	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr5:112874846delA	ENST00000161863.4	+	8	1391	c.1178delA	c.(1177-1179)gafs	p.E393fs	YTHDC2_ENST00000515883.1_Frame_Shift_Del_p.E393fs	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	393							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACAAACAAAGAAATGTTAAAA	0.229													17	16	---	---	---	---					
GRIK2	2898	broad.mit.edu	37	6	102247659	102247659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr6:102247659delT	ENST00000369138.1	+	7	1578	c.1088delT	c.(1087-1089)atfs	p.I363fs	GRIK2_ENST00000413795.1_Frame_Shift_Del_p.I363fs|GRIK2_ENST00000421544.1_Frame_Shift_Del_p.I363fs|GRIK2_ENST00000318991.6_Frame_Shift_Del_p.I363fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.I363fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.I314fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	363					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATGAGTCTAATTAAAGAGGTA	0.438													16	42	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													3	5	---	---	---	---					
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr9:123675735delC	ENST00000373887.3	-	5	3021	c.576delG	c.(574-576)ggfs	p.G192fs	TRAF1_ENST00000540010.1_Frame_Shift_Del_p.G192fs|TRAF1_ENST00000546084.1_Frame_Shift_Del_p.G70fs	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.G192G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612													19	33	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8007517	8007517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr10:8007517delT	ENST00000344293.5	+	3	2250	c.2044delT	c.(2044-2046)tgfs	p.L682fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	682	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCATCTTTGTTGCCAGTGCT	0.507													32	42	---	---	---	---					
AMPD3	272	broad.mit.edu	37	11	10514955	10514956	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr11:10514955_10514956insA	ENST00000444303.2	+	6	994_995	c.522_523insA	c.(520-525)atagcafs	p.A175fs	AMPD3_ENST00000396554.3_Frame_Shift_Ins_p.A343fs	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	334					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCTTCATCAAGCACACATA	0.614													47	77	---	---	---	---					
AKAP11	11215	broad.mit.edu	37	13	42876378	42876387	+	Frame_Shift_Del	DEL	CTCATGCGAT	CTCATGCGAT	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr13:42876378_42876387delCTCATGCGAT	ENST00000025301.2	+	8	3671_3680	c.3496_3505delCTCATGCGAT	c.(3496-3507)ctfs	p.LMRS1166fs		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1166					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)		CATGTTGAAACTCATGCGATCTCTTTCTGA	0.429													27	47	---	---	---	---					
SSTR1	6751	broad.mit.edu	37	14	38678738	38678738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr14:38678738delC	ENST00000267377.2	+	3	761	c.144delC	c.(142-144)aafs	p.N48fs		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	48					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGTCCCAGAACGGGACCTTGA	0.692													11	11	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33359221	33359221	+	Frame_Shift_Del	DEL	C	C	-	rs142673160	by1000genomes	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:33359221delC	ENST00000334528.9	-	1	864	c.865delG	c.(865-867)ctfs	p.A289fs	FMN1_ENST00000558197.1_Frame_Shift_Del_p.A289fs|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	400	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTCCCTCAGCGGTAGCCCCC	0.498													16	25	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62214170	62214170	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr15:62214170delC	ENST00000261517.5	-	55	7111	c.7038delG	c.(7036-7038)aafs	p.K2346fs	VPS13C_ENST00000395898.3_Frame_Shift_Del_p.K2303fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.K2303fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.K2346fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2346					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						TCCATTGTCTCTTCCCCTCCA	0.358													40	47	---	---	---	---					
DNAJA2	10294	broad.mit.edu	37	16	47005416	47005416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr16:47005416delG	ENST00000317089.5	-	3	422	c.207delC	c.(205-207)tafs	p.Y69fs		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	69	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CTTGCTCTCCGTATCTGTCAT	0.398													87	121	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29528134	29528141	+	Frame_Shift_Del	DEL	TTTCTTGC	TTTCTTGC	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:29528134_29528141delTTTCTTGC	ENST00000358273.4	+	10	1525_1532	c.1142_1149delTTTCTTGC	c.(1141-1149)gfs	p.VSC381fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.VSC381fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.VSC381fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	381					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGCCTTGTTTCTTGCTTTCGTATAA	0.370			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	43	---	---	---	---					
SPATA20	64847	broad.mit.edu	37	17	48632997	48632997	+	Frame_Shift_Del	DEL	G	G	-	rs150608206	byFrequency	TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:48632997delG	ENST00000006658.6	+	17	2503	c.2383delG	c.(2383-2385)aafs	p.E795fs	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Frame_Shift_Del_p.E779fs|SPATA20_ENST00000393244.3_Frame_Shift_Del_p.E735fs	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	779					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	p.E795K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGATCCCTGCGAATTACGAAA	0.567													14	15	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61902618	61902624	+	Frame_Shift_Del	DEL	GATCTCT	GATCTCT	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr17:61902618_61902624delGATCTCT	ENST00000427159.2	-	7	1218_1224	c.573_579delAGAGATC	c.(571-579)gcfs	p.AEI191fs		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	191					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	p.E192Q(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGACTACAAAGATCTCTGCAGATTCAT	0.488													37	43	---	---	---	---					
ALDH16A1	126133	broad.mit.edu	37	19	49969512	49969512	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chr19:49969512delG	ENST00000293350.4	+	14	2073	c.1910delG	c.(1909-1911)cgfs	p.R637fs	ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.R472fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.R474fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.R586fs|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	637							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGGGGGGCCCGGGTGCAGGCC	0.697													2	4	---	---	---	---					
TLR7	51284	broad.mit.edu	37	X	12905306	12905308	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2GR-06A-11D-A197-08	TCGA-EE-A2GR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a17dfc3-f54c-4ca4-a2c3-0a387585d99b	9cff6731-b26a-4b4b-a68e-051b496c2f34	g.chrX:12905306_12905308delCAG	ENST00000380659.3	+	3	1818_1820	c.1679_1681delCAG	c.(1678-1683)aca>a	p.TA560del		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	560					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTCCATTCAACAGCATTTGAAGA	0.369													173	14	---	---	---	---