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
MAP3K11	4296	broad.mit.edu	37	11	65375774	65375774	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:65375774C>T	ENST00000309100.3	-	2	1370	c.885G>A	c.(883-885)aaG>aaA	p.K295K	MAP3K11_ENST00000530153.1_Silent_p.K38K	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	295	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGGTGGAGGCCTTGATAACCT	0.627000													22	63					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100212	50100212	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:50100212C>A	ENST00000298292.8	-	1	1736	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	DNAAF2_ENST00000406043.3_Missense_Mutation_p.L552F	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	552					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						AGAGGGGATTCAAATCTCCTT	0.443000													17	48					3.32936e-07	3.5329e-07	1	1	0
ATP8A1	10396	broad.mit.edu	37	4	42545975	42545975	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:42545975G>A	ENST00000381668.5	-	20	1912	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R546C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	561					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GATGGAGTGCGAACAATCACT	0.338000													16	31					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24850033	24850033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:24850033C>T	ENST00000259698.4	-	11	1119	c.944G>A	c.(943-945)tGg>tAg	p.W315*	FAM65B_ENST00000378023.4_Nonsense_Mutation_p.W315*|FAM65B_ENST00000538035.1_Nonsense_Mutation_p.W344*|FAM65B_ENST00000510784.2_Nonsense_Mutation_p.W349*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.W315*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	315					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CACTTACTACCAGGTGATTTC	0.488000													27	374					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55422846	55422846	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:55422846A>G	ENST00000341048.4	-	8	851	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	ANKRD55_ENST00000504958.2_Missense_Mutation_p.C191R|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	233										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATATGTACACATGTCTTCCCA	0.498000													60	122					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52862253	52862253	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:52862253C>T	ENST00000343457.3	-	4	941	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	312						integral to membrane		p.R312H(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCTTTTCATGCGATGCAGATG	0.562000													28	36					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11300786	11300786	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:11300786G>A	ENST00000295083.3	+	3	437	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.G88R|PQLC3_ENST00000402361.1_Missense_Mutation_p.G88R	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	88						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCATTTTAACGGGAACGTGAA	0.517000													39	73					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													6	218					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088092	94088092	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:94088092G>A	ENST00000553484.1	+	31	4733	c.4579G>A	c.(4579-4581)Ggg>Agg	p.G1527R	UNC79_ENST00000393151.2_Missense_Mutation_p.G1505R|UNC79_ENST00000555664.1_Missense_Mutation_p.G1505R|UNC79_ENST00000256339.4_Missense_Mutation_p.G1328R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1505						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						TCTTGATATAGGGAATGCAGA	0.438000													33	64					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31750569	31750569	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31750569G>A	ENST00000375663.3	-	15	2256	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	606					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCCCGTGCCGCTGCCCAACT	0.607000													5	73					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	813678	813678	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:813678C>G	ENST00000566549.1	+	4	583	c.166C>G	c.(166-168)Cct>Gct	p.P56A	MSLN_ENST00000563941.1_Missense_Mutation_p.P56A|MSLN_ENST00000545450.2_Missense_Mutation_p.P56A|MSLN_ENST00000382862.3_Missense_Mutation_p.P56A			Q13421	MSLN_HUMAN	mesothelin	56				ANPP -> TTPH (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCCAACCCACCTAACATTTC	0.662000													14	12					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059029	248059029	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:248059029G>A	ENST00000537741.1	+	3	398	c.141G>A	c.(139-141)ctG>ctA	p.L47L	OR2W3_ENST00000360358.3_Silent_p.L47L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	47					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)			CCATCATCCTGGTGTCCCGGC	0.592000													15	343					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696843	31696843	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31696843G>A	ENST00000375789.2	-	1	726	c.96C>T	c.(94-96)ggC>ggT	p.G32G	DDAH2_ENST00000375787.2_Silent_p.G32G|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375792.3_Silent_p.G32G			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	32					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GAGCGGGAAGGCCAGCCCCCG	0.677000													57	75					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52474664	52474664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:52474664C>T	ENST00000216286.5	-	19	3743	c.3744G>A	c.(3742-3744)tgG>tgA	p.W1248*	NID2_ENST00000541773.1_Nonsense_Mutation_p.W1147*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1248						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCTCTATTCCAGTCTGTCC	0.403000													5	54					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987073	61987073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:61987073C>A	ENST00000409186.1	-	5	3264	c.1159G>T	c.(1159-1161)Gga>Tga	p.G387*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.G387*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	360	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACTTCCTCCAATCTTACTG	0.398000													58	96					1.61742e-36	1.88958e-36	1	1	0
ATCAY	85300	broad.mit.edu	37	19	3905458	3905458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:3905458G>T	ENST00000450849.2	+	4	630	c.163G>T	c.(163-165)Gga>Tga	p.G55*	ATCAY_ENST00000301260.6_Nonsense_Mutation_p.G55*|ATCAY_ENST00000600960.1_Nonsense_Mutation_p.G55*|ATCAY_ENST00000398448.3_Nonsense_Mutation_p.G61*	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	55					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AAATTTCAACGGAGCGCATCG	0.498000													22	23					4.35082e-09	4.65748e-09	1	1	0
MPP7	143098	broad.mit.edu	37	10	28358781	28358781	+	Splice_Site	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:28358781C>A	ENST00000337532.5	-	14	1400	c.1124G>T	c.(1123-1125)gGt>gTt	p.G375V	MPP7_ENST00000375719.3_Splice_Site_p.G375V|MPP7_ENST00000445954.2_Splice_Site_p.G250V|MPP7_ENST00000540098.1_Splice_Site_p.G375V|MPP7_ENST00000375732.1_Splice_Site_p.G375V	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	375	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCCACGGGACCTGAAAAACA	0.463000													13	16					5.50884e-06	5.77003e-06	1	1	0
EXOSC9	5393	broad.mit.edu	37	4	122723018	122723018	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:122723018A>T	ENST00000512454.1	+	1	271	c.55A>T	c.(55-57)Atc>Ttc	p.I19F	EXOSC9_ENST00000243498.5_Missense_Mutation_p.I35F|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.I35F			Q06265	EXOS9_HUMAN	exosome component 9	35	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTATAGGAACATCAGGATCTC	0.368000													31	51					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36216719	36216719	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:36216719G>A	ENST00000222270.7	+	13	3885	c.3885G>A	c.(3883-3885)tgG>tgA	p.W1295*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site_p.W1295*	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GGCGCCACTGGGTGAGAGATG	0.612000													6	0					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151018593	151018593	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:151018593C>A	ENST00000295294.7	+	9	1352	c.743C>A	c.(742-744)gCc>gAc	p.A248D	BNIPL_ENST00000368931.3_Missense_Mutation_p.A330D|BNIPL_ENST00000491386.1_3'UTR	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	330	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGAGCTGGCCCAACTCATA	0.453000													37	40					7.04047e-22	7.84787e-22	1	1	0
DENND3	22898	broad.mit.edu	37	8	142151356	142151356	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:142151356G>A	ENST00000519811.1	+	4	626	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	DENND3_ENST00000424248.1_Missense_Mutation_p.V106M|DENND3_ENST00000262585.2_Missense_Mutation_p.V106M|DENND3_ENST00000518347.1_Missense_Mutation_p.V186M			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	106	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGCTTCGTGCCCTTCGC	0.577000													14	144					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486976	36486976	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:36486976C>G	ENST00000342292.4	-	11	2496	c.2476G>C	c.(2476-2478)Gga>Cga	p.G826R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	826						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCCTCTCTCCCACCGTCAGG	0.667000													10	17					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237730002	237730002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:237730002G>A	ENST00000366574.2	+	28	3667	c.3350G>A	c.(3349-3351)tGg>tAg	p.W1117*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.W1115*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.W1101*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1117	4 X approximate repeats.|B30.2/SPRY 2.				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)			AGGGTTGGTTGGAGTCGTCCT	0.532000													114	325					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802170	68802170	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:68802170C>T	ENST00000295569.7	-	4	623		c.e4-1			NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4							extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TGGTGGTGACCTAGTTGGTAA	0.478000													16	29					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11190347	11190347	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:11190347C>T	ENST00000379446.5	-	5	1921	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.Q585Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	585					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCAGCTGTCCCTGGGAGCCAC	0.632000													32	65					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874968	20874968	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:20874968A>T	ENST00000381552.1	+	8	1374	c.1006A>T	c.(1006-1008)Atg>Ttg	p.M336L	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.M336L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.M287L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.M218L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.M336L			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	336					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)					TGCAAAAATAATGGAAATGGC	0.353000													14	27					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740651	140740651	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140740651C>G	ENST00000522605.1	+	1	949	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTTACACTCTGAGTATCGA	0.388000													4	35					0	0	1	0	0
RGS13	6003	broad.mit.edu	37	1	192628536	192628536	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:192628536T>C	ENST00000391995.2	+	7	651	c.363T>C	c.(361-363)ttT>ttC	p.F121F	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Silent_p.F121F	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	121	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AAACATGTTTTGAAGAAGCTC	0.353000													45	25					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88583193	88583193	+	Silent	SNP	G	G	A	rs145650472		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:88583193G>A	ENST00000418177.2	-	3	1159	c.792C>T	c.(790-792)ctC>ctT	p.L264L	GRM5_ENST00000305432.5_Silent_p.L264L|GRM5_ENST00000393297.1_Silent_p.L264L|GRM5_ENST00000305447.4_Silent_p.L264L|GRM5_ENST00000455756.2_Silent_p.L264L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	264					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGTGACTTGTGAGCTTCTTCA	0.547000													27	42					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782928	54782928	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:54782928C>T	ENST00000391748.1	-	6	821	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	LILRB2_ENST00000314446.5_Missense_Mutation_p.G232S|LILRB2_ENST00000391749.4_Missense_Mutation_p.G232S|LILRB2_ENST00000434421.1_Missense_Mutation_p.G116S|LILRB2_ENST00000391746.1_Missense_Mutation_p.G232S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	232	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGACAGGACCCGGCTGCACT	0.572000													7	133					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34501269	34501269	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:34501269G>A	ENST00000374012.3	+	11	1789	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					aaCCAAACCTGGTAATTTTTT	0.408000													11	25					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104092983	104092983	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:104092983G>A	ENST00000388887.2	+	34	3896	c.3692G>A	c.(3691-3693)aGc>aAc	p.S1231N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1231	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATTTCCTTAGCTTCTTTCTC	0.473000													16	26					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806089	1806089	+	Missense_Mutation	SNP	G	G	T	rs121913479		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:1806089G>T	ENST00000340107.4	+	9	1370	c.1114G>T	c.(1114-1116)Ggc>Tgc	p.G372C	FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	370					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G370C(108)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGACGAGGCGGGCAGTGTGTA	0.687000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				104	153					1.16068e-44	1.36915e-44	1	1	0
STAG2	10735	broad.mit.edu	37	X	123196751	123196751	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:123196751G>A	ENST00000371160.1	+	18	1928		c.e18-1		STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGTTCCTTTAGGTGCTTACAG	0.343000													29	8					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138270	126138270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:126138270G>T	ENST00000299308.3	+	9	2259	c.2251G>T	c.(2251-2253)Gag>Tag	p.E751*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.E263*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	751						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)		TGTGGTTGCAGAGGGTGAAGG	0.433000													50	89					1.30916e-28	1.5006e-28	1	1	0
SBNO2	22904	broad.mit.edu	37	19	1110743	1110743	+	Splice_Site	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:1110743C>A	ENST00000361757.3	-	26	3266		c.e26+1		SBNO2_ENST00000587024.1_Splice_Site|SBNO2_ENST00000438103.2_Splice_Site	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGCTCACCCAGGATGCC	0.637000													52	85					1.11015e-26	1.26059e-26	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520532	72520532	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:72520532C>G	ENST00000373208.1	+	22	3604	c.3604C>G	c.(3604-3606)Cct>Gct	p.P1202A	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1199A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1199	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TACGCCAGTCCCTGAGGACAA	0.647000													32	64					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112585986	112585986	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:112585986G>T	ENST00000257604.5	+	8	1653	c.1036G>T	c.(1036-1038)Gca>Tca	p.A346S	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A346S	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	346					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GCAACAGGCTGCAAGTAACCA	0.502000													11	88					0.0692343	0.0698089	1	1	0
LPHN1	22859	broad.mit.edu	37	19	14273534	14273534	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:14273534G>C	ENST00000340736.6	-	6	1391	c.1094C>G	c.(1093-1095)cCc>cGc	p.P365R	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.P360R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	365	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAACTGGTAGGGGTTGGGGAA	0.587000													11	147					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113145992	113145992	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:113145992G>A	ENST00000316851.7	+	18	2430	c.2430G>A	c.(2428-2430)aaG>aaA	p.K810K	NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	820					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCAGGAAGGGCCCCGTAG	0.592000													18	23					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175218	140175218	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140175218G>A	ENST00000526136.1	+	1	669	c.669G>A	c.(667-669)acG>acA	p.T223T	PCDHA2_ENST00000378132.1_Silent_p.T223T|PCDHA2_ENST00000520672.2_Silent_p.T223T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	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)			CTGAGCTCACGGGCACCGTTC	0.418000													64	72					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74034625	74034625	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:74034625G>A	ENST00000307365.3	+	3	579	c.378G>A	c.(376-378)caG>caA	p.Q126Q		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	126					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGGTAAGCCAGGTGGGCAAAG	0.692000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	107					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99944886	99944886	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:99944886C>A	ENST00000524871.1	+	13	1730	c.1440C>A	c.(1438-1440)ccC>ccA	p.P480P	CNTN5_ENST00000279463.3_Silent_p.P480P|CNTN5_ENST00000527185.1_Silent_p.P480P|CNTN5_ENST00000418526.2_Silent_p.P406P|CNTN5_ENST00000528682.1_Silent_p.P480P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	480	Ig-like C2-type 5.				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)		CTTCAGCTCCCACTTTTGCAC	0.363000													11	8					0.00136819	0.00139109	1	1	0
HYOU1	10525	broad.mit.edu	37	11	118920312	118920312	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:118920312C>T	ENST00000404233.3	-	16	1886	c.1762G>A	c.(1762-1764)Ggt>Agt	p.G588S	HYOU1_ENST00000543287.1_Missense_Mutation_p.G501S|HYOU1_ENST00000529972.1_Missense_Mutation_p.G588S|HYOU1_ENST00000525859.1_Missense_Mutation_p.G588S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	588						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGTGTGGTACCGCCTCCAAAC	0.527000													5	124					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209159	34209159	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:34209159G>A	ENST00000373381.4	-	14	2071	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	592	CUB 4.					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)				TGGGTAGTTGGGAGACAGGAC	0.572000													8	102					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296395	20296395	+	Missense_Mutation	SNP	G	G	T	rs148867085		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:20296395G>T	ENST00000315947.1	+	1	788	c.788G>T	c.(787-789)aGg>aTg	p.R263M	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	263					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)		CGCCCCTTCAGGGCTTTCCCA	0.458000													52	73					4.6707e-30	5.37905e-30	1	1	0
SLC16A5	9121	broad.mit.edu	37	17	73100105	73100105	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:73100105C>T	ENST00000450736.2	+	5	1609	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	SLC16A5_ENST00000538213.2_Silent_p.F438F|SLC16A5_ENST00000329783.4_Silent_p.F398F|SLC16A5_ENST00000580123.1_Silent_p.F398F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	398					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCTATGTTTTCTACATGTCCA	0.567000													13	117					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156927	33156927	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:33156927G>A	ENST00000341947.2	-	3	498	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	COL11A2_ENST00000374708.4_Missense_Mutation_p.R91W|COL11A2_ENST00000395194.1_Missense_Mutation_p.R91W|COL11A2_ENST00000357486.1_Missense_Mutation_p.R91W|COL11A2_ENST00000374712.1_Missense_Mutation_p.R91W|COL11A2_ENST00000374713.1_Missense_Mutation_p.R91W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R91W|COL11A2_ENST00000395197.1_Missense_Mutation_p.R91W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R91W	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	91	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGCGGGTCCGGACAACAGTC	0.592000													4	102					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65170940	65170940	+	Missense_Mutation	SNP	C	C	A	rs141462797		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:65170940C>A	ENST00000381210.3	-	7	784	c.674G>T	c.(673-675)tGg>tTg	p.W225L	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.W225L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	225					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGTAAATCCCCAGTAAAAGGC	0.308000													6	115					0.00116845	0.00119803	1	1	0
SPIC	121599	broad.mit.edu	37	12	101880371	101880371	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:101880371C>T	ENST00000551346.1	+	6	728	c.569C>T	c.(568-570)aCt>aTt	p.T190I	SPIC_ENST00000299272.5_Missense_Mutation_p.T190I			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AGGAAGCTGACTTACCAGTTC	0.443000													12	116					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32575281	32575281	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr21:32575281T>C	ENST00000286827.3	-	13	2907	c.2436A>G	c.(2434-2436)ctA>ctG	p.L812L	TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	812	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGTTTTCTATTAGAAATTTCA	0.388000													81	88					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158059334	158059334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:158059334C>T	ENST00000368172.1	+	5	541	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	KIRREL_ENST00000368173.3_Nonsense_Mutation_p.Q379*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.Q263*|KIRREL_ENST00000359209.6_Nonsense_Mutation_p.Q363*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.Q260*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.Q199*			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	363	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GTCGGTGACTCAGGCAGACGC	0.647000													6	130					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88717888	88717888	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:88717888G>T	ENST00000393294.3	-	4	1249	c.880C>A	c.(880-882)Cgt>Agt	p.R294S	GRM5_ENST00000305432.5_Intron|GRM5_ENST00000418177.2_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Intron|GRM5_ENST00000455756.2_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	0					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACATTCAAACGGTTTATTAAA	0.289000													4	1					0.150653	0.151276	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725934	140725934	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140725934G>A	ENST00000253812.6	+	1	2334	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	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)			ATGCGGACACGCTCATCAGCC	0.522000													14	207					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143399942	143399942	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:143399942A>G	ENST00000519651.1	-	5	393	c.290T>C	c.(289-291)gTg>gCg	p.V97A	TSNARE1_ENST00000524325.1_Missense_Mutation_p.V316A|TSNARE1_ENST00000307180.3_Missense_Mutation_p.V316A|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.V316A			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	316					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CATCTGCTTCACGGAGCTGGC	0.662000													62	125					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455151	187455151	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:187455151T>C	ENST00000307161.5	-	2	946	c.745A>G	c.(745-747)Att>Gtt	p.I249V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	249					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCCAGCAAATGGCAAAAAGG	0.527000													51	109					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18849753	18849753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:18849753G>A	ENST00000446231.2	-	44	7532	c.7120C>T	c.(7120-7122)Cga>Tga	p.R2374*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.R2374*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2374	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTGTCATTCGAAAAGGTACT	0.373000													7	76					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168084	69168084	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:69168084C>T	ENST00000420581.2	-	2	1601	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	LMOD3_ENST00000489031.1_Silent_p.Q474Q|LMOD3_ENST00000475434.1_Silent_p.Q474Q	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	474						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACTTCGGGGCCTGCGATGGCT	0.562000													4	68					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75665679	75665679	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:75665679C>T	ENST00000319410.5	-	9	1195	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	KARS_ENST00000302445.3_Silent_p.T330T|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	330					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CAGGATTGTGCGTCAAATCAA	0.493000													87	135					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636642	73636642	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:73636642C>A	ENST00000377687.4	+	2	1441	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P211Q	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	302					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TACTTTCCCCCGTCACCACCA	0.502000													67	63					2.89935e-36	3.37102e-36	1	1	0
ORC3	23595	broad.mit.edu	37	6	88376826	88376826	+	Silent	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:88376826A>T	ENST00000392844.3	+	20	2169	c.2121A>T	c.(2119-2121)acA>acT	p.T707T	ORC3_ENST00000546266.1_Silent_p.T564T|ORC3_ENST00000257789.4_Silent_p.T708T	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	707					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAAGACTAACATGGGGAGGCT	0.393000													21	30					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107475	31107475	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31107475G>A	ENST00000259881.9	+	6	514	c.225G>A	c.(223-225)caG>caA	p.Q75Q	PSORS1C1_ENST00000481450.2_Silent_p.Q12Q|PSORS1C1_ENST00000547221.1_Silent_p.Q27Q	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	75										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CAGCCACCCAGGATGACTGCA	0.547000													34	33					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74473393	74473393	+	Silent	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:74473393C>G	ENST00000437994.2	+	10	1523	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L	CD109_ENST00000287097.5_Silent_p.L364L|CD109_ENST00000422508.2_Silent_p.L287L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	364						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCATCTCTCAACTTCACAG	0.318000													20	35					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150075243	150075243	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:150075243C>T	ENST00000199814.4	-	7	692	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RBM22_ENST00000540000.1_Missense_Mutation_p.D142N|RBM22_ENST00000447771.2_Missense_Mutation_p.D142N	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	191					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAGGGGGTCATCTGGATCT	0.413000													8	52					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827910	52827910	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:52827910C>T	ENST00000252245.5	-	1	399	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	60	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTAGAGGCTGCGGCTTCCAAA	0.652000													10	114					0	0	1	0	0
IDI2	91734	broad.mit.edu	37	10	1066766	1066766	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:1066766C>T	ENST00000277517.1	-	4	371	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	103	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTCCTCACTCCGATGGCATCC	0.542000													22	29					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45403752	45403752	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:45403752C>T	ENST00000389039.6	-	6	930	c.545G>A	c.(544-546)aGc>aAc	p.S182N	DUOX2_ENST00000603300.1_Missense_Mutation_p.S182N			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	182	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATAGATGGCGCTGCCGTCCAG	0.766000													4	9					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54319028	54319028	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:54319028A>G	ENST00000329734.3	-	2	1477	c.765T>C	c.(763-765)gaT>gaC	p.D255D		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	255	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AGTTCTCCAAATCGATctcct	0.682000													18	23					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154295499	154295499	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:154295499G>A	ENST00000484864.1	+	3	310	c.274G>A	c.(274-276)Gtt>Att	p.V92I	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.V92I			Q96PS8	AQP10_HUMAN	aquaporin 10	92					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.V92I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATGTGCATCGTTGGACGCCT	0.517000													4	204					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265192	25265192	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:25265192G>C	ENST00000218548.6	+	8	1223	c.890G>C	c.(889-891)gGa>gCa	p.G297A	ATP12A_ENST00000381946.3_Missense_Mutation_p.G291A	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	291					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTGGCCTCAGGAGTTGGAAAT	0.502000													5	143					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159835026	159835026	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:159835026C>A	ENST00000297151.4	-	9	1256	c.869G>T	c.(868-870)aGa>aTa	p.R290I		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	290					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCATTGCTCTAGTTTTTGG	0.299000													45	75					1.61863e-15	1.7638e-15	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219894290	219894290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:219894290G>T	ENST00000341552.5	-	11	1568	c.1485C>A	c.(1483-1485)tgC>tgA	p.C495*	CCDC108_ENST00000441968.1_Nonsense_Mutation_p.C495*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.C484*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.C430*|CCDC108_ENST00000453220.1_Nonsense_Mutation_p.C495*	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	495						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)		AGTGGGCCGTGCAGTCCGATT	0.597000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	113					0.00024832	0.000255685	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10089574	10089574	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:10089574C>T	ENST00000264828.3	-	40	3042	c.2957G>A	c.(2956-2958)gGg>gAg	p.G986E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	986	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)			CACCGGGTCCCCAGGGCCCCC	0.622000													11	16					0	0	1	0	0
MIR297	100126354	broad.mit.edu	37	4	111781801	111781801	+	RNA	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:111781801A>G	ENST00000401142.1	-	0	2					NR_030643.1																						acacatacatacataTGTTCA	0.328000													18	30					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51020239	51020239	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:51020239C>T	ENST00000406938.2	-	3	603	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	129					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CCCCAGCGACCGCTCCGCAAG	0.617000													49	92					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101305	3101305	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:3101305A>G	ENST00000381951.1	+	1	493	c.493A>G	c.(493-495)Agt>Ggt	p.S165G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GCTCACAGCTAGTTTGTCCTT	0.458000													49	73					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29750657	29750657	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:29750657T>C	ENST00000357586.2	-	7	1106	c.920A>G	c.(919-921)aAt>aGt	p.N307S	AP1B1_ENST00000402502.1_Missense_Mutation_p.N307S|AP1B1_ENST00000415447.1_Missense_Mutation_p.N307S|AP1B1_ENST00000432560.2_Missense_Mutation_p.N307S|AP1B1_ENST00000405198.1_Missense_Mutation_p.N307S|AP1B1_ENST00000317368.7_Missense_Mutation_p.N307S|AP1B1_ENST00000356015.2_Missense_Mutation_p.N307S	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	307					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACGATGAGATTGATGTTGCG	0.582000													10	94					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186158668	186158668	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:186158668C>T	ENST00000271588.4	+	107	16795	c.16566C>T	c.(16564-16566)ccC>ccT	p.P5522P	HMCN1_ENST00000367492.2_Silent_p.P5405P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5522					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						ACTGTCCACCCAATGATTTGG	0.438000													47	61					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111636553	111636553	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:111636553C>G	ENST00000435970.1	-	29	8965	c.8149G>C	c.(8149-8151)Gag>Cag	p.E2717Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E2795Q|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_Missense_Mutation_p.E2795Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E2795Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2795					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGACTGCTCCTTAGTGGCT	0.343000								DNA polymerases (catalytic subunits)					14	23					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	224136	224136	+	Silent	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:224136G>T	ENST00000326153.4	-	5	630	c.631C>A	c.(631-633)Cgg>Agg	p.R211R				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	440						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		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)				CCGTGGCCCCGCAGGGCAGAC	0.677000													14	35					2.32078e-09	2.49536e-09	1	1	0
PANX3	116337	broad.mit.edu	37	11	124489476	124489476	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:124489476C>T	ENST00000284288.2	+	4	891	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	275					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTTAGCCTCTCCAGTGTAGCA	0.458000													22	47					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100365467	100365467	+	RNA	SNP	G	G	A	rs74848966	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:100365467G>A	ENST00000542585.1	+	0	5022				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATGGCCATCGGGTGGCCCTA	0.582000													18	33					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26598817	26598817	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:26598817G>A	ENST00000274849.1	+	3	794	c.763G>A	c.(763-765)Gga>Aga	p.G255R		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	255					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CAGGATCTTTGGAGCCCCGCC	0.662000													26	41					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102808061	102808061	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:102808061G>A	ENST00000262236.5	+	8	2342	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	ZNF839_ENST00000559185.1_Missense_Mutation_p.D661N|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000558850.1_Missense_Mutation_p.D661N|ZNF839_ENST00000442396.2_Missense_Mutation_p.D777N	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	661						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGGTTTGTGACTTCCACCT	0.622000													9	120					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50074470	50074470	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:50074470A>G	ENST00000281631.5	+	9	814	c.656A>G	c.(655-657)tAt>tGt	p.Y219C	PARP8_ENST00000505554.1_Missense_Mutation_p.Y198C|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.Y219C|PARP8_ENST00000505697.2_Missense_Mutation_p.Y219C|PARP8_ENST00000503750.2_Missense_Mutation_p.Y219C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	219						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTACACAGTATTTAAATGGC	0.333000													4	22					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758001	8758001	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:8758001G>A	ENST00000229335.6	-	3	340	c.237C>T	c.(235-237)acC>acT	p.T79T	AICDA_ENST00000537228.1_Silent_p.T79T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	79					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			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)					AGGTGAACCAGGTGACGCGGT	0.627000													25	66					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536733	130536733	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:130536733G>C	ENST00000314830.8	-	2	164	c.51C>G	c.(49-51)ttC>ttG	p.F17L		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	17					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAAAGCCCTTGAACTTGAAGA	0.473000													5	48					0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066461	46066461	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr21:46066461C>T	ENST00000334670.8	+	1	131	c.86C>T	c.(85-87)cCc>cTc	p.P29L	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	29	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TGCTGTGAGCCCCCCTGCAGC	0.706000													55	71					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016850	23016850	+	Missense_Mutation	SNP	C	C	T	rs4988474	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:23016850C>T	ENST00000255008.3	+	1	794	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	244					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGGCCCTGCGCGCTGGCTG	0.622000													8	157					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526293	13526293	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:13526293G>A	ENST00000318426.2	-	3	479	c.262C>T	c.(262-264)Cct>Tct	p.P88S	C12orf36_ENST00000527705.2_Missense_Mutation_p.P88S					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		CCCAGGGGAGGAGCTCGTGCA	0.463000													63	81					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144863938	144863938	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:144863938G>A	ENST00000367545.3	+	45	6527	c.6527G>A	c.(6526-6528)aGa>aAa	p.R2176K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2176					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)		TAGATTTGCAGAGAGGTGCCT	0.403000													11	13					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816212	55816212	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:55816212C>A	ENST00000309383.1	+	14	1918	c.1641C>A	c.(1639-1641)gcC>gcA	p.A547A	BRSK1_ENST00000590333.1_Silent_p.A563A|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.A242A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	547					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGGGGGAGCCGCCTGGAGGA	0.701000													37	4					1.836e-18	2.01877e-18	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5154246	5154246	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:5154246G>A	ENST00000252321.3	+	1	1162	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	311						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTGGCCCTACGGTGGCACCGC	0.711000													53	91					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56479254	56479254	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:56479254T>G	ENST00000370754.5	-	36	4858	c.4859A>C	c.(4858-4860)cAt>cCt	p.H1620P	DST_ENST00000370788.2_Missense_Mutation_p.H1442P|DST_ENST00000446842.2_Missense_Mutation_p.H1116P|DST_ENST00000361203.3_Missense_Mutation_p.H1442P|DST_ENST00000244364.6_Missense_Mutation_p.H1116P|DST_ENST00000370769.4_Missense_Mutation_p.H1442P|DST_ENST00000312431.6_Missense_Mutation_p.H1442P|DST_ENST00000421834.2_Missense_Mutation_p.H1442P			Q03001	DYST_HUMAN	dystonin	1442					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)			TTTTTCAACATGTTCTTTCTT	0.368000													7	15					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16994309	16994309	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:16994309C>T	ENST00000377833.4	-	33	5000	c.4935G>A	c.(4933-4935)caG>caA	p.Q1645Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1645	CUB 11.				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)	AGCTGCAGTTCTGATTGTTTG	0.478000													49	65					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98240410	98240410	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:98240410G>A	ENST00000430669.2	-	9	1661	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	PTCH1_ENST00000418258.1_Missense_Mutation_p.T274M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T424M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T274M|PTCH1_ENST00000429896.2_Missense_Mutation_p.T274M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T359M|PTCH1_ENST00000331920.6_Missense_Mutation_p.T425M			Q13635	PTC1_HUMAN	patched 1	425					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCCAGGGTCGTGGTGGTGAA	0.532000													26	68					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782929	54782929	+	Silent	SNP	C	C	T	rs141840014		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:54782929C>T	ENST00000391748.1	-	6	820	c.693G>A	c.(691-693)ccG>ccA	p.P231P	LILRB2_ENST00000314446.5_Silent_p.P231P|LILRB2_ENST00000391749.4_Silent_p.P231P|LILRB2_ENST00000434421.1_Silent_p.P115P|LILRB2_ENST00000391746.1_Silent_p.P231P	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	231	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGACAGGACCCGGCTGCACTG	0.572000													7	131					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87951882	87951882	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:87951882A>T	ENST00000518476.1	+	4	382	c.331A>T	c.(331-333)Ata>Tta	p.I111L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	111										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTCTAACAATATAGCTGTCCA	0.348000													33	58					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68384826	68384826	+	Splice_Site	SNP	A	A	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:68384826A>C	ENST00000406334.3	-	8	981	c.763T>G	c.(763-765)Tat>Gat	p.Y255D							130																	ACACATACATACTAGAGATTA	0.507000													19	31					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124075	103124075	+	Silent	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:103124075C>G	ENST00000375735.2	+	66	10248	c.10104C>G	c.(10102-10104)ctC>ctG	p.L3368L	DYNC2H1_ENST00000398093.3_Silent_p.L3375L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373000													34	52					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874209	47874209	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:47874209G>A	ENST00000259021.4	+	3	541	c.261G>A	c.(259-261)gtG>gtA	p.V87V	KAT7_ENST00000424009.2_Silent_p.V87V|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Silent_p.V87V|KAT7_ENST00000503935.2_5'UTR	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	87					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CTACCCCAGTGACACCGAAAA	0.488000													23	263					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594909	179594909	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:179594909G>T	ENST00000589042.1	-	62	18442	c.18218C>A	c.(18217-18219)gCa>gAa	p.A6073E	TTN_ENST00000591111.1_Missense_Mutation_p.A5756E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4829E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5756	Ig-like 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)			AGCTTTGGCTGCAAAGAGCTC	0.458000													4	46					1	1	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99944885	99944885	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:99944885C>A	ENST00000524871.1	+	13	1729	c.1439C>A	c.(1438-1440)cCc>cAc	p.P480H	CNTN5_ENST00000279463.3_Missense_Mutation_p.P480H|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480H|CNTN5_ENST00000418526.2_Missense_Mutation_p.P406H|CNTN5_ENST00000528682.1_Missense_Mutation_p.P480H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	480	Ig-like C2-type 5.				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)		GCTTCAGCTCCCACTTTTGCA	0.368000													11	8					0.00136819	0.00139109	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576479	33576479	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33576479C>G	ENST00000504830.1	-	19	3987	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1133Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1218	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCAGTCCTTCCATTACTGTG	0.542000										HNSCC(64;0.19)			9	145					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													7	73					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63380641	63380641	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:63380641C>T	ENST00000409120.1	-	10	5121	c.1571G>A	c.(1570-1572)tGt>tAt	p.C524Y	WDPCP_ENST00000272321.7_Missense_Mutation_p.C716Y|WDPCP_ENST00000398544.3_Missense_Mutation_p.C557Y|WDPCP_ENST00000409199.1_Missense_Mutation_p.C524Y			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	716					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTCTGCATTACAGGTATTAGT	0.299000													22	25					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128821	197128821	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:197128821G>T	ENST00000367405.4	-	10	2466	c.2398C>A	c.(2398-2400)Cag>Aag	p.Q800K	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GATACATTCTGTAACATCGTC	0.443000													56	125					5.57489e-27	6.36009e-27	1	1	0
MGAT5	4249	broad.mit.edu	37	2	135206286	135206286	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:135206286G>T	ENST00000409645.1	+	17	2346	c.2094G>T	c.(2092-2094)aaG>aaT	p.K698N	MGAT5_ENST00000281923.2_Missense_Mutation_p.K698N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	698					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCCTAAGAATAAGCACT	0.567000													5	219					8.12818e-05	8.40489e-05	1	1	0
BAI1	575	broad.mit.edu	37	8	143599522	143599522	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:143599522G>A	ENST00000517894.1	+	19	3735	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P	BAI1_ENST00000323289.5_Silent_p.P947P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	947					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGACTCTGCCGTCGGTGACGC	0.647000													38	65					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97035169	97035169	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:97035169C>T	ENST00000455200.1	+	17	2359	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	NCAPH_ENST00000427946.1_Silent_p.P563P|NCAPH_ENST00000240423.4_Silent_p.P699P			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	699					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGCCTGCCCCCTGTCATGG	0.428000													39	76					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183204	55183204	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:55183204G>A	ENST00000337714.3	+	2	612	c.379G>A	c.(379-381)Gac>Aac	p.D127N	AKAP1_ENST00000539273.1_Missense_Mutation_p.D127N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D127N|AKAP1_ENST00000571629.1_Missense_Mutation_p.D127N|AKAP1_ENST00000314126.3_Missense_Mutation_p.D127N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	127					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					ACGCAGAGATGACAGTACAAA	0.522000													32	47					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43465060	43465060	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:43465060G>A	ENST00000039989.4	+	17	2451	c.2437G>A	c.(2437-2439)Ggt>Agt	p.G813S	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.G870S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	813							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCTGAAGAAAGGTCCCCAGGA	0.488000													8	97					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040245	3040245	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:3040245G>C	ENST00000448120.2	+	6	586	c.535G>C	c.(535-537)Gat>Cat	p.D179H	TULP3_ENST00000397132.2_Missense_Mutation_p.D179H	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	179				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCAACCAGCTGATAACCTCCT	0.507000													48	80					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576554	33576554	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33576554C>G	ENST00000504830.1	-	19	3912	c.3577G>C	c.(3577-3579)Gaa>Caa	p.E1193Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1108Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1193	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E1193K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTGGCATTTCTGTACTTTCC	0.512000										HNSCC(64;0.19)			16	140					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15552335	15552335	+	Splice_Site	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:15552335T>A	ENST00000357607.2	+	12	1208	c.1020T>A	c.(1018-1020)aaT>aaA	p.N340K	BMX_ENST00000348343.6_Splice_Site_p.N340K|BMX_ENST00000342014.6_Splice_Site_p.N340K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	340	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CTGTTACTAGTGATAAAAAAG	0.303000													16	54					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1271012	1271012	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:1271012C>G	ENST00000589710.1	+	2	227	c.80C>G	c.(79-81)tCa>tGa	p.S27*	CIRBP_ENST00000413636.2_Nonsense_Mutation_p.S27*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000444172.2_Missense_Mutation_p.Q10E|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.S27*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.S27*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	27	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CAGGTCTTCTCAAAGTACGGA	0.592000													5	250					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287358	238287358	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:238287358T>C	ENST00000295550.4	-	6	2870	c.2418A>G	c.(2416-2418)ccA>ccG	p.P806P	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000409809.1_Silent_p.P600P|COL6A3_ENST00000392003.2_Silent_p.P399P|COL6A3_ENST00000392004.3_Silent_p.P600P|COL6A3_ENST00000353578.4_Silent_p.P600P|COL6A3_ENST00000347401.3_Silent_p.P605P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	806	Nonhelical region.|VWFA 4.				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)		GAGGCAAAGCTGGCAGGGAGC	0.527000													39	65					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896928	175896928	+	Silent	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:175896928A>T	ENST00000359240.3	+	5	922	c.252A>T	c.(250-252)acA>acT	p.T84T	ADAM29_ENST00000404450.4_Silent_p.T84T|ADAM29_ENST00000445694.1_Silent_p.T84T|ADAM29_ENST00000514159.1_Silent_p.T84T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	84					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCACCTACACAGACCAGGGTG	0.478000													20	38					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605269	45605269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:45605269G>A	ENST00000267430.5	+	1	120	c.35G>A	c.(34-36)tGg>tAg	p.W12*	FANCM_ENST00000556036.1_Nonsense_Mutation_p.W12*|FANCM_ENST00000542564.2_Nonsense_Mutation_p.W12*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	12					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						TTTCAGACGTGGGGCTCAAGT	0.587000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	81					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17843094	17843094	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:17843094A>G	ENST00000409389.1	-	21	2379	c.2207T>C	c.(2206-2208)aTg>aCg	p.M736T	SNX13_ENST00000428135.3_Missense_Mutation_p.M725T|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	736					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATTTTGCCCATGTTGTCTGA	0.338000													14	16					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806088	1806088	+	Silent	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:1806088G>T	ENST00000340107.4	+	9	1369	c.1113G>T	c.(1111-1113)gcG>gcT	p.A371A	FGFR3_ENST00000481110.2_Silent_p.A369A|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Silent_p.A369A|FGFR3_ENST00000440486.2_Silent_p.A369A|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	369			S -> C (in KERSEB and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.A369A(6)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTGACGAGGCGGGCAGTGTGT	0.692000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				101	150					2.1459e-41	2.5191e-41	1	1	0
LTBR	4055	broad.mit.edu	37	12	6499851	6499851	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:6499851C>T	ENST00000228918.4	+	10	1382	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	LTBR_ENST00000539925.1_Silent_p.G333G|LTBR_ENST00000541102.1_Silent_p.G209G	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	352					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ATGTCACCGGCGGGTCTATGA	0.562000													96	98					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663675	10663675	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:10663675C>T	ENST00000309469.4	+	10	1530	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	ATG4D_ENST00000540862.1_Missense_Mutation_p.R120W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	453					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCCCACACTCCGGCTCCCTCG	0.617000													10	83					0	0	1	0	0
TRAV18	28665	broad.mit.edu	37	14	22471897	22471897	+	RNA	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:22471897A>G	ENST00000390446.3	+	0	425																											GCCGTGTACTACTGCGCTCTG	0.607000													15	34					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694316	141694316	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:141694316C>A	ENST00000344120.4	-	3	613	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	SPRY4_ENST00000434127.2_Missense_Mutation_p.V120L	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	120					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCAGCCACGGGTGGTGGT	0.662000									Testicular Cancer, Familial Clustering of				57	94					2.73381e-35	3.16341e-35	1	1	0
SLC10A1	6554	broad.mit.edu	37	14	70252943	70252943	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:70252943A>G	ENST00000216540.4	-	2	571	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	146					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GGTCCCCATCATAGATCCCCC	0.522000													56	72					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954330	32954330	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:32954330G>T	ENST00000399302.2	+	4	1474	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	380	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACTTTTTCTGGGTCATCTCAG	0.383000													46	69					2.13384e-23	2.38951e-23	1	1	0
HIPK2	28996	broad.mit.edu	37	7	139416296	139416296	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:139416296T>A	ENST00000406875.3	-	2	632	c.538A>T	c.(538-540)Agc>Tgc	p.S180C	HIPK2_ENST00000428878.2_Missense_Mutation_p.S180C|HIPK2_ENST00000342645.6_Missense_Mutation_p.S180C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	180	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCGCCCTCGCTGTTGGAGCCG	0.572000													66	83					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72298716	72298716	+	RNA	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:72298716G>T	ENST00000438904.2	-	0	37				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTTCGCACTGGTACTGCGAGA	0.652000													9	15					1.12685e-05	1.17521e-05	1	1	0
KLHL34	257240	broad.mit.edu	37	X	21675187	21675187	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:21675187A>G	ENST00000379499.2	-	1	1261	c.720T>C	c.(718-720)tcT>tcC	p.S240S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	240										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCACGAGGCCAGAGCCCGAGT	0.672000													6	19					0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72608188	72608188	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:72608188C>T	ENST00000287202.5	-	2	597	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569547.1_Missense_Mutation_p.G115R|CELF6_ENST00000567083.1_Missense_Mutation_p.G115R	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	115	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GGACTTACCCCTGGCAGGGTC	0.642000													3	9					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62442653	62442653	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:62442653T>C	ENST00000281156.4	-	7	1105	c.827A>G	c.(826-828)tAc>tGc	p.Y276C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCACCCCCGTAGCCATCATC	0.383000													26	43					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126732390	126732390	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:126732390G>A	ENST00000274473.6	+	7	846	c.579G>A	c.(577-579)caG>caA	p.Q193Q	MEGF10_ENST00000508365.1_Silent_p.Q193Q|MEGF10_ENST00000503335.2_Silent_p.Q193Q|MEGF10_ENST00000418761.2_Silent_p.Q193Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	193	EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTGTCATCAGAGATGCCAGT	0.642000													56	80					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	rs143627388		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:168244341C>T	ENST00000519560.1	-	8	1176	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	253	LRRCT 1.				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)			ACATCCGCCACGTTGAAGCCC	0.597000													8	91					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860382	228860382	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:228860382C>T	ENST00000392056.3	-	8	4523	c.4477G>A	c.(4477-4479)Gag>Aag	p.E1493K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1493K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1493						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)		GCTTCAGCCTCTGGTACATCT	0.557000													23	45					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32786414	32786414	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:32786414G>A	ENST00000265074.8	+	8	1932	c.1589G>A	c.(1588-1590)cGg>cAg	p.R530Q	NPR3_ENST00000415167.2_Missense_Mutation_p.R529Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R314Q|NPR3_ENST00000415685.2_Missense_Mutation_p.R313Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	530					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGGAATTACGGGAAGATTCC	0.418000													7	13					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108523160	108523160	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:108523160T>G	ENST00000281092.4	+	20	2737	c.2353T>G	c.(2353-2355)Tgt>Ggt	p.C785G	FER_ENST00000438717.2_Missense_Mutation_p.C610G	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	785	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TCCCCAGCACTGTCCAGAGGA	0.423000													4	100					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													4	102					0	0	1	0	0
GEMIN2	8487	broad.mit.edu	37	14	39597482	39597482	+	Splice_Site	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										TTTTTTTTTTAGGCAACAGTA	0.308000													4	67					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186014962	186014962	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:186014962C>T	ENST00000271588.4	+	41	6676	c.6447C>T	c.(6445-6447)ggC>ggT	p.G2149G	HMCN1_ENST00000367492.2_Silent_p.G2149G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2149	Ig-like C2-type 19.				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						AGAAACCAGGCCTCAGTATAT	0.378000													25	58					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071232	73071232	+	RNA	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:73071232G>A	ENST00000429829.1	-	0	1356					NR_001564.2																						CTGTGTGACCGCACATGTCCA	0.532000													5	236					0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145518173	145518173	+	Missense_Mutation	SNP	A	A	G	rs146562689	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:145518173A>G	ENST00000369306.3	+	3	424	c.275A>G	c.(274-276)aAt>aGt	p.N92S	PEX11B_ENST00000537888.1_Missense_Mutation_p.N78S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	92					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTCACCTCAATCGAGCCTTG	0.532000													5	240					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056507	26056507	+	Silent	SNP	G	G	A	rs150897775		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:26056507G>A	ENST00000343677.2	-	1	192	c.150C>T	c.(148-150)gcC>gcT	p.A50A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	50	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTCTTTAGAGGCGGCCACAG	0.567000													55	89					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155030474	155030474	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:155030474G>A	ENST00000356955.2	+	14	1665	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	ADAM15_ENST00000368410.2_Missense_Mutation_p.G228R|ADAM15_ENST00000449910.2_Missense_Mutation_p.G522R|ADAM15_ENST00000360674.4_Missense_Mutation_p.G522R|ADAM15_ENST00000355956.2_Missense_Mutation_p.G522R|ADAM15_ENST00000447332.3_Missense_Mutation_p.G506R|ADAM15_ENST00000368413.1_Missense_Mutation_p.G228R|ADAM15_ENST00000368412.3_Missense_Mutation_p.G522R|ADAM15_ENST00000531455.1_Missense_Mutation_p.G532R|ADAM15_ENST00000271836.6_Missense_Mutation_p.G522R|ADAM15_ENST00000359280.4_Missense_Mutation_p.G522R|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	522	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGCATGCACGGGCGTTGTGC	0.632000													39	108					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55525777	55525777	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:55525777A>G	ENST00000219070.4	+	8	1754	c.1245A>G	c.(1243-1245)caA>caG	p.Q415Q	MMP2_ENST00000570308.1_Silent_p.Q339Q|MMP2_ENST00000437642.2_Silent_p.Q365Q|MMP2_ENST00000543485.1_Silent_p.Q339Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCACTCCCAAGACCCTGGGG	0.577000													41	75					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275760	64275760	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:64275760G>T	ENST00000261891.3	-	2	291	c.286C>A	c.(286-288)Cgc>Agc	p.R96S	DAPK2_ENST00000558069.1_Missense_Mutation_p.R96S|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.R96S			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	96	Protein kinase.				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)		ACGTCGGTGCGGTTCTCATAG	0.652000													37	66					1.52319e-26	1.72155e-26	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131865461	131865461	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:131865461C>T	ENST00000359827.3	-	19	4485	c.3523G>A	c.(3523-3525)Ggc>Agc	p.G1175S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1175S			Q9HCM2	PLXA4_HUMAN	plexin A4	1175	IPT/TIG 4.					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						TTCACGTTGCCCCCAGCCACA	0.597000													4	62					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103602	55103602	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr18:55103602C>A	ENST00000491143.2	+	1	686	c.654C>A	c.(652-654)ccC>ccA	p.P218P		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	218					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGGAGATGCCCGGCATGAGCC	0.687000													20	29					0.00741294	0.0075056	1	1	0
KLHL15	80311	broad.mit.edu	37	X	24024257	24024257	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:24024257T>C	ENST00000328046.8	-	3	809	c.554A>G	c.(553-555)gAt>gGt	p.D185G		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	185	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATGATCATTATCCAAGTAAGA	0.478000													79	17					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74880637	74880637	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:74880637T>C	ENST00000241436.4	+	9	1284	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.I371T|POLK_ENST00000380481.3_Missense_Mutation_p.I281T|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.I371T	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	371					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTGGAATTATTACATGTACA	0.333000								DNA polymerases (catalytic subunits)					23	33					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158528300	158528300	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:158528300C>T	ENST00000251527.5	-	20	2546		c.e20-1		ESYT2_ENST00000435514.2_Splice_Site	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2							integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAAATCAAAGCTGAAATAGGA	0.428000													66	83					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511786	169511786	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:169511786G>A	ENST00000367796.3	-	13	2758	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	F5_ENST00000367797.3_Missense_Mutation_p.R848C			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	848	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAAAGTAGACGTATCCCTGTG	0.458000													97	233					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929352	51929352	+	Splice_Site	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:51929352G>T	ENST00000310914.5	-	4	234	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	58										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTTCTGGGGGCTTTCAAGAA	0.562000													30	42					1.2476e-16	1.36561e-16	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13766144	13766144	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:13766144G>A	ENST00000265104.4	-	59	10146	c.10042C>T	c.(10042-10044)Ccc>Tcc	p.P3348S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3348	Stalk (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)					TGCCAGGAGGGCATGGTACAG	0.468000									Kartagener syndrome				8	147					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:125113410C>A	ENST00000522917.1	+	38	5162	c.4956C>A	c.(4954-4956)aaC>aaA	p.N1652K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.N1652K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1652	C2 6.					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)			GAGAGGGCAACTTCAACTGGC	0.433000													29	50					3.73808e-20	4.14774e-20	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908520	103908520	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:103908520C>A	ENST00000302259.3	+	1	1213	c.970C>A	c.(970-972)Caa>Aaa	p.Q324K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	324					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACTTGAGGATCAACCCATGGA	0.448000													46	83					1.06522e-23	1.19837e-23	1	1	0
FNIP1	96459	broad.mit.edu	37	5	131006321	131006321	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:131006321T>C	ENST00000307968.7	-	14	2858	c.2859A>G	c.(2857-2859)tcA>tcG	p.S953S	FNIP1_ENST00000510461.1_Silent_p.S981S|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.S936S	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CGATTAACTTTGACCTGGAAG	0.373000													43	60					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606409	139606409	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:139606409G>A	ENST00000303045.6	-	63	4912	c.4466C>T	c.(4465-4467)cCg>cTg	p.P1489L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1469L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	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)			CATGTACGCCGGGGGCATCTG	0.592000										HNSCC(7;0.00092)			44	52					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20180780	20180780	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:20180780G>A	ENST00000524983.2	-	2	714	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DBX1_ENST00000227256.3_Silent_p.F142F			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	142					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F142F(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGACCCTTCGAAGTAGGGAA	0.602000													7	128					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28358782	28358782	+	Splice_Site	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:28358782C>A	ENST00000337532.5	-	14	1400		c.e14-1		MPP7_ENST00000375719.3_Splice_Site|MPP7_ENST00000445954.2_Splice_Site|MPP7_ENST00000540098.1_Splice_Site|MPP7_ENST00000375732.1_Splice_Site	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)						establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCCACGGGACCTGAAAAACAG	0.458000													13	16					5.50884e-06	5.77003e-06	1	1	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													5	4					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131727	82131727	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:82131727C>G	ENST00000199936.4	+	5	1043	c.850C>G	c.(850-852)Ctg>Gtg	p.L284V	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	284					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAAGGACATTCTGGACCACCT	0.527000													4	101					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65146799	65146799	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:65146799T>C	ENST00000381210.3	-	11	1034	c.924A>G	c.(922-924)ggA>ggG	p.G308G	TECRL_ENST00000507440.1_Silent_p.G308G	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	308					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TAATCCATGATCCAATCTGTT	0.279000													13	14					0	0	1	0	0
PINX1	54984	broad.mit.edu	37	8	10623339	10623339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:10623339C>T	ENST00000314787.3	-	7	678	c.559G>A	c.(559-561)Gca>Aca	p.A187T	PINX1_ENST00000519088.1_Missense_Mutation_p.G161D|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000426190.2_Missense_Mutation_p.G159D|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCAGTGCTGCCATCCGCTTG	0.547000													162	171					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:106509636C>T	ENST00000359195.3	+	2	1940	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	544					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACCGGGTTCGAGCAGAAAT	0.542000													43	66					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241857	126241857	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:126241857G>C	ENST00000394329.3	+	1	4304	c.4291G>C	c.(4291-4293)Gag>Cag	p.E1431Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1431	Cadherin 14.				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						GTCTATTGTTGAGAACATTCC	0.423000													12	154					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22922604	22922604	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:22922604G>T	ENST00000166244.3	+	9	1775	c.1703G>T	c.(1702-1704)tGt>tTt	p.C568F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	568						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCAGGCACTGTGGCTACAGC	0.637000													40	50					8.16277e-20	9.01615e-20	1	1	0
HCN4	10021	broad.mit.edu	37	15	73616453	73616453	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:73616453G>C	ENST00000261917.3	-	7	3113	c.2120C>G	c.(2119-2121)gCg>gGg	p.A707G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	707					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCGGTCCAGCGCCACGGTCTC	0.657000													4	100					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1654058	1654058	+	Translation_Start_Site	SNP	C	C	T	rs61777495	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:1654058C>T	ENST00000356200.3	-	0	212				CDK11A_ENST00000358779.5_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378633.1_Intron					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338000													5	2					0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226784667	226784667	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:226784667A>G	ENST00000366788.3	+	2	472	c.367A>G	c.(367-369)Atg>Gtg	p.M123V	C1orf95_ENST00000366789.4_Missense_Mutation_p.M123V	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	123						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGGCATGGACATGGTCATCCT	0.592000													13	200					0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2252898	2252898	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:2252898G>A	ENST00000337190.2	-	5	698	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	129					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTCCAGGCGCCGCTTCAGG	0.662000													8	10					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G	rs143464834	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1																						AGTGTCCTAACAGCCCTGCTT	0.627000													4	22					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21335037	21335037	+	Splice_Site	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:21335037C>G	ENST00000399167.2	+	20	1999	c.1759C>G	c.(1759-1761)Ctg>Gtg	p.L587V	AIFM3_ENST00000465606.1_Intron|AIFM3_ENST00000440238.2_Splice_Site_p.L587V|AIFM3_ENST00000405089.1_Intron|AIFM3_ENST00000399163.2_Intron|AIFM3_ENST00000333607.6_Intron|AIFM3_ENST00000335375.5_Intron|LZTR1_ENST00000479606.1_Intron	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTCGTGAAGGCTGTTTGTGCT	0.522000													21	220					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888718	38888718	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:38888718C>T	ENST00000450244.1	-	26	5041	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1577K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1615K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1615					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGGGTCCTCACTTTCTTCA	0.368000													13	144					0	0	1	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28965901	28965901	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:28965901A>T	ENST00000320805.4	+	3	551	c.476A>T	c.(475-477)gAt>gTt	p.D159V	NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	159						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GAGCTGGCAGATTCGAGTGGT	0.522000													89	149					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035572	16035572	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:16035572C>T	ENST00000402119.4	-	5	1072	c.646G>A	c.(646-648)Gag>Aag	p.E216K	CYP4F11_ENST00000248041.8_Splice_Site_p.E216K|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000326742.8_Splice_Site_p.E216K	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						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						AGGACTCACTCCTGACAATTG	0.517000													8	97					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21721207	21721207	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:21721207T>C	ENST00000328843.6	+	31	5418	c.5387T>C	c.(5386-5388)cTt>cCt	p.L1796P	DNAH11_ENST00000409508.3_Missense_Mutation_p.L1791P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1796	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						CTGGGAGAACTTCCACCTGGA	0.388000									Kartagener syndrome				19	39					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498861	216498861	+	Missense_Mutation	SNP	C	C	T	rs3820464		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:216498861C>T	ENST00000366943.2	-	6	1315	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R310Q|USH2A_ENST00000366942.3_Missense_Mutation_p.R310Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	310	Laminin N-terminal.				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)		AGGGTGGACCCGCGGGTGGCT	0.532000										HNSCC(13;0.011)			93	60					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56619289	56619289	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:56619289G>A	ENST00000321691.3	-	2	1781	c.1600C>T	c.(1600-1602)Cta>Tta	p.L534L	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	534										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACCTTTTAGCCACCAGATG	0.507000													41	74					0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23586272	23586272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:23586272C>T	ENST00000376971.3	-	1	241	c.230G>A	c.(229-231)tGg>tAg	p.W77*		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	77						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATCCTCCCTCCATGAACTCAG	0.532000													86	127					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980911	44980911	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:44980911T>A	ENST00000221327.4	-	5	2068	c.1787A>T	c.(1786-1788)cAg>cTg	p.Q596L	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q569L|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q571L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATGAGTTCTCTGATGTACAAC	0.423000													4	114					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248113003	248113003	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:248113003C>T	ENST00000357191.3	+	1	844	c.844C>T	c.(844-846)Cca>Tca	p.P282S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			CATCCTCACCCCAATGCTCAA	0.483000													32	108					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113074110	113074110	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:113074110G>A	ENST00000409871.1	+	6	1212	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E271K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	271							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GCACACAGTGGAACACAAAGG	0.318000													13	16					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57100511	57100511	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:57100511G>A	ENST00000278412.2	-	5	725	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	153					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTGCGTCATCGTTTTGGTGGA	0.557000													76	98					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134981802	134981802	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:134981802G>C	ENST00000304613.3	+	3	367	c.346G>C	c.(346-348)Ggg>Cgg	p.G116R	KNDC1_ENST00000368571.2_Missense_Mutation_p.G51R|KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.G116R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	116	KIND 1.				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)		CGACGTGACCGGGAACACCTT	0.562000													63	98					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065048	119065048	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:119065048G>A	ENST00000328252.3	+	10	3335	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.R27Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	989					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						GAACCCAGCCGGTGCTATTTC	0.453000													18	45					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58038711	58038711	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:58038711G>A	ENST00000556826.1	-	5	1070	c.834C>T	c.(832-834)acC>acT	p.T278T	SLC35F4_ENST00000554729.1_Silent_p.T155T|SLC35F4_ENST00000339762.6_Silent_p.T314T	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGACAATGCCGGTAATTGCCA	0.433000													9	12					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38926797	38926797	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:38926797C>G	ENST00000450244.1	-	17	3244	c.3046G>C	c.(3046-3048)Gag>Cag	p.E1016Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E978Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1016Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1016Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1016					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAACATCTCTCTGGTTGCTTT	0.428000													8	80					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71357850	71357850	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:71357850G>T	ENST00000244230.2	+	1	407	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G19C	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	19					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						GACGGAAGTCGGCAAAGCCAC	0.672000													20	20					2.21704e-12	2.40509e-12	1	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591910	56591910	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:56591910G>A	ENST00000338222.5	+	1	1885	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	535						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCCACGGGGCCTACTGTG	0.622000													5	1					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221088	140221088	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140221088C>A	ENST00000531613.1	+	1	182	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P61Q|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_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)			GAGCTGGTGCCGCGCCTGTTC	0.637000													100	149					6.00419e-47	7.11716e-47	1	1	0
ITIH4	3700	broad.mit.edu	37	3	52857966	52857966	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:52857966C>A	ENST00000266041.4	-	10	1322	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L	ITIH4_ENST00000434759.3_Missense_Mutation_p.R321L|ITIH4_ENST00000485816.1_Missense_Mutation_p.R409L|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.R409L|ITIH4_ENST00000346281.5_Missense_Mutation_p.R409L|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	409	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582000													34	75					6.90743e-12	7.46002e-12	1	1	0
STAB2	55576	broad.mit.edu	37	12	104067714	104067714	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:104067714A>G	ENST00000388887.2	+	23	2605	c.2401A>G	c.(2401-2403)Aac>Gac	p.N801D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	801					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATGCAATAACAGGATAGA	0.592000													47	50					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280711	152280711	+	Silent	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:152280711G>T	ENST00000368799.1	-	3	6686	c.6651C>A	c.(6649-6651)gcC>gcA	p.A2217A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2217	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)			TAGAGCTGTCGGCCCAAGAGG	0.552000									Ichthyosis				208	663					4.53876e-58	5.40646e-58	1	1	0
CHD1	1105	broad.mit.edu	37	5	98232075	98232075	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:98232075T>C	ENST00000284049.3	-	11	1714	c.1565A>G	c.(1564-1566)tAt>tGt	p.Y522C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	522	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATGAAACAAATAATTCAGAAA	0.363000													6	75					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139399556	139399556	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139399556G>A	ENST00000277541.6	-	26	4662	c.4587C>T	c.(4585-4587)aaC>aaT	p.N1529N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1529					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			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)		CGTACAGGGGGCTGTGGGGGG	0.731000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			16	18					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375671	46375671	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:46375671G>C	ENST00000302177.2	+	2	605	c.408G>C	c.(406-408)aaG>aaC	p.K136N		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	136					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CGCCGGGCAAGATGCTGACCT	0.577000													5	268					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122626341	122626341	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:122626341G>A	ENST00000319080.7	+	17	2874	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K	MLXIP_ENST00000538698.1_Silent_p.K521K			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGATTGGCAAGAGATTGGGAG	0.622000													40	73					0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139872040	139872040	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139872040C>T	ENST00000224167.2	+	1	85	c.10C>T	c.(10-12)Cat>Tat	p.H4Y	PTGDS_ENST00000371625.3_Missense_Mutation_p.H4Y			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	4					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AATGGCTACTCATCACACACT	0.672000													4	38					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30100021	30100021	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:30100021C>T	ENST00000331968.5	-	10	1828	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	PRKD1_ENST00000415220.2_Silent_p.E541E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	533	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATGGCTATCTCCCACATCC	0.522000													9	135					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:29589570C>T	ENST00000377034.4	-	10	1425	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R|GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TAGAAAAGTCCCACGATGATT	0.527000													43	54					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881544	33881544	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33881544G>T	ENST00000504830.1	-	2	504	c.169C>A	c.(169-171)Cca>Aca	p.P57T	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P57T|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P57T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTCGGACTGGACCCACCACG	0.488000										HNSCC(64;0.19)			12	213					6.40141e-05	6.64762e-05	1	1	0
CYP4F2	8529	broad.mit.edu	37	19	15990419	15990419	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:15990419G>A	ENST00000221700.6	-	11	1404	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGCACCTCAGGGTCCGGCCAC	0.557000													72	153					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2305696	2305696	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:2305696G>A	ENST00000565678.1	-	7	1253	c.708C>T	c.(706-708)acC>acT	p.T236T	RNPS1_ENST00000320225.5_Silent_p.T236T|RNPS1_ENST00000561718.1_Silent_p.T59T|RNPS1_ENST00000397086.2_Silent_p.T236T|RNPS1_ENST00000569598.2_Silent_p.T142T|RNPS1_ENST00000566458.1_Silent_p.T213T|RNPS1_ENST00000566397.1_Silent_p.T59T|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000301730.8_Silent_p.T236T|RNPS1_ENST00000568631.1_Silent_p.T236T|AC009065.1_ENST00000454671.1_Silent_p.A146A			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	236	Necessary for interaction with PNN and exon-skipping.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CCAGCACGGCGGTGGCAGTGA	0.562000													20	36					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444722	54444722	+	Splice_Site	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:54444722A>G	ENST00000391767.1	+	5	636		c.e5-1		CACNG7_ENST00000222212.2_Splice_Site|CACNG7_ENST00000468076.1_Splice_Site|CACNG7_ENST00000391766.1_Splice_Site			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7						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|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTGCTCCCCTAGGCCTCTCCT	0.582000													10	133					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346616	102346616	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:102346616G>C	ENST00000328882.4	+	1	715	c.694G>C	c.(694-696)Ggt>Cgt	p.G232R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATCTTCAGGTGGTATATTCAA	0.353000													54	115					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021608	132021608	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:132021608C>T	ENST00000356920.5	+	15	2674	c.2580C>T	c.(2578-2580)acC>acT	p.T860T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	860	Actin-like.						ATP binding	p.T860T(1)									ACGGGGTCACCCACACTGTGC	0.617000													61	121					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365704	97365704	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:97365704G>T	ENST00000415431.1	-	8	1205	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	FBP1_ENST00000375326.4_Missense_Mutation_p.L326I	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	326					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AGGAACTCGAGCACGTCGTCG	0.587000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	20					4.96729e-08	5.29409e-08	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52862934	52862934	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:52862934C>T	ENST00000252250.6	-	9	1654	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	536	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGGCCACCCCCAATGGCTCT	0.592000													25	72					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17292142	17292142	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:17292142G>A	ENST00000261381.6	-	5	1300	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	406					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGAGGTCCCGCATGCTCTGC	0.632000													5	101					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300200	161300200	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:161300200C>T	ENST00000428797.2	+	6	688	c.333C>T	c.(331-333)ctC>ctT	p.L111L	GABRA1_ENST00000437025.2_Silent_p.L111L|GABRA1_ENST00000420560.1_Silent_p.L111L|GABRA1_ENST00000393943.4_Silent_p.L111L|GABRA1_ENST00000444819.1_Silent_p.L111L|GABRA1_ENST00000023897.6_Silent_p.L111L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	111					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGACAGTCCTCCGGTTAAATA	0.393000													5	125					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58186750	58186750	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:58186750C>T	ENST00000483681.1	-	7	1101	c.520G>A	c.(520-522)Gac>Aac	p.D174N	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D144N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D174N|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D174N			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	174					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)		TGTTTCACGTCCGTGTAGACC	0.547000													100	175					0	0	1	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393													7	87	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152420419	152420419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:152420419delC	ENST00000397345.3	-	118	18699	c.18497delG	c.(18496-18498)ggcfs	p.G6166fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.G6166fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.G6166fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.G4465fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.G4465fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.G6166fs	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6160					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)		GGCCTTGGTGCCCTCCCACGC	0.443													10	19	---	---	---	---					
PGAP1	80055	broad.mit.edu	37	2	197781295	197781295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:197781295delT	ENST00000354764.4	-	3	438	c.324delA	c.(322-324)gcafs	p.A108fs	PGAP1_ENST00000409475.1_Frame_Shift_Del_p.A108fs|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Frame_Shift_Del_p.A66fs	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTTTTCTAAGTGCAATGGAGC	0.378													28	26	---	---	---	---					
COL4A4	1286	broad.mit.edu	37	2	227906897	227906897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:227906897delC	ENST00000396625.3	-	37	3679	c.3472delG	c.(3472-3474)gatfs	p.D1158fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.D1158fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1158	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCCCTGGATCCCCCTGGAGG	0.542													41	98	---	---	---	---					
MCTP1	79772	broad.mit.edu	37	5	94207113	94207113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:94207113delT	ENST00000515393.1	-	14	2045	c.2046delA	c.(2044-2046)aaafs	p.K682fs	MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K198fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K415fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K461fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K461fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	682	C2 3.				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)		AATGGATATCTTTAATGTTGC	0.338													25	36	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38810224	38810224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:38810224delT	ENST00000359357.3	+	32	4150	c.3896delT	c.(3895-3897)cttfs	p.L1299fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L1516fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.L1299fs					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						TATGAAATACTTTGGGGAGAT	0.343													30	72	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42236492	42236492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:42236492delC	ENST00000541110.1	-	5	1405	c.837delG	c.(835-837)gggfs	p.G279fs	TRERF1_ENST00000340840.2_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.G279fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	279	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TACGCTGTTGCCCGGCTTGCT	0.597													64	118	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													3	4	---	---	---	---					
SLC4A2	6522	broad.mit.edu	37	7	150761698	150761698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:150761698delC	ENST00000485713.1	+	4	1343	c.303delC	c.(301-303)ggcfs	p.G101fs	SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.G92fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.G101fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.G87fs|SLC4A2_ENST00000310317.5_Splice_Site	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	101	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCCCAGGGCCCAGGACGGA	0.682													55	75	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151877847	151877847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:151877847delA	ENST00000355193.2	-	36	7316	c.7098delT	c.(7096-7098)gatfs	p.D2366fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.D2366fs					lysine (K)-specific methyltransferase 2C																		TATTCTGTGTATCAGTTACTC	0.428													40	28	---	---	---	---					
MROH6	642475	broad.mit.edu	37	8	144650796	144650796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:144650796delG	ENST00000398882.3	-	10	1826	c.1570delC	c.(1570-1572)ctgfs	p.L524fs	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000534459.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		AGCTTCCGCAgggggccgcgg	0.736													2	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139395013	139395025	+	Frame_Shift_Del	DEL	ACCTTGTGCGTCG	ACCTTGTGCGTCG	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139395013_139395025delACCTTGTGCGTCG	ENST00000277541.6	-	31	5988_6000	c.5913_5925delCGACGCACAAGGT	c.(5911-5925)gccgacgcacaaggtfs	p.ADAQG1971fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1971					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			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)		CCTGGAAGACACCTTGTGCGTCGGCAGACACAG	0.676			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			36	120	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61536739	61536739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:61536739delC	ENST00000278836.5	+	4	502	c.406delC	c.(406-408)ccgfs	p.P136fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.P127fs	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CAGCACACTGCCGGACTCTCC	0.682													5	4	---	---	---	---					
PLEKHA8P1	51054	broad.mit.edu	37	12	45567306	45567306	+	RNA	DEL	A	A	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:45567306delA	ENST00000256692.5	-	0	1379					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAGTTCCTAACCTGGGCTA	0.418													33	57	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49425478	49425478	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49425478delG	ENST00000301067.7	-	39	13009	c.13010delC	c.(13009-13011)cctfs	p.P4338fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATGGGTGGGAGGGAGCTGGGC	0.617													17	16	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49442929	49442929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49442929delC	ENST00000301067.7	-	12	3978	c.3979delG	c.(3979-3981)gccfs	p.A1327fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTTAGCCGGGCCCGTCCTCTA	0.572													7	22	---	---	---	---					
FAM186B	84070	broad.mit.edu	37	12	49994518	49994518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49994518delC	ENST00000544141.1	-	4	1234	c.635delG	c.(634-636)ggafs	p.G212fs	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.G302fs|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	302						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGTACCTTCCCCCTAAGAT	0.542													20	226	---	---	---	---					
IGHG4	3503	broad.mit.edu	37	14	106092258	106092258	+	RNA	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:106092258delC	ENST00000390543.2	-	0	145																											GGTGTGCACGCCGCTGGTCAG	0.652													14	74	---	---	---	---					
LINC01581	101927112	broad.mit.edu	37	15	94577060	94577060	+	RNA	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:94577060delC	ENST00000558874.1	-	0	1141																											CCTCCTGTGTCCGCAGCCCTC	0.662													9	17	---	---	---	---					
MBD1	4152	broad.mit.edu	37	18	47802020	47802020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr18:47802020delG	ENST00000591416.1	-	8	1173	c.742delC	c.(742-744)cgcfs	p.R248fs	MBD1_ENST00000398495.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.R274fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.R248fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.R199fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.R199fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.R248fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.R248fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	248					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R248C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGACCAGGGCGGGGAGGGCGA	0.632													28	49	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41205816	41205818	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:41205816_41205818delCAA	ENST00000399959.2	+	14	2411_2413	c.1556_1558delCAA	c.(1555-1560)ccaagt>cgt	p.519_520PS>R	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_In_Frame_Del_p.503_504PS>R|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	519	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTGACTTGCCAAGTGATATTGA	0.360										HNSCC(61;0.18)			10	76	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99661761	99661762	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:99661761_99661762insG	ENST00000373034.4	-	1	3509_3510	c.1834_1835insC	c.(1834-1836)cgcfs	p.R612fs	PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.R612fs|PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.R612fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	612	Cadherin 6.				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						AAAGAAGCCGCGGTCGCCCTCG	0.564													42	11	---	---	---	---					
