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
PIK3CD	5293	broad.mit.edu	37	1	9780231	9780231	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:9780231C>T	uc001aqe.4	+	9	1504	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	PIK3CD_uc001aqb.4_Silent_p.S467S|PIK3CD_uc010oaf.2_Silent_p.S467S|PIK3CD_uc021ogb.1_Silent_p.S251S	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	467					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ACACGGATAGCGCCGCTGCCC	0.662												
MUL1	79594	broad.mit.edu	37	1	20828674	20828674	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:20828674G>A	uc001bdi.4	-	2	374	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	73					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTAACAGACCGCACAGCTCCT	0.433												
ZNF644	84146	broad.mit.edu	37	1	91404393	91404393	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:91404393C>T	uc001dnw.3	-	2	2801	c.2518G>A	c.(2518-2520)Gtt>Att	p.V840I	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.V840I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTGCAAAACGACAACAGTC	0.363												
AMPD1	270	broad.mit.edu	37	1	115220069	115220069	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:115220069G>A	uc001efe.2	-	9	1438	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	AMPD1_uc001eff.2_Missense_Mutation_p.R460C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	431					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGGACTGCGGCCATAGATG	0.567												
PPIAL4G	644591	broad.mit.edu	37	1	143767630	143767630	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:143767630G>A	uc001ejt.3	-	0	252	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	73	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.T73T(2)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ACTTGTCACCGGTGCCATTAG	0.468												
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	Missense_Mutation	SNP	G	G	A	rs141949470	by1000genomes	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:146494538G>A	uc001epd.2	-	3	535	c.461C>T	c.(460-462)gCg>gTg	p.A154V						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGGCAGGGCCGCTCTCCAGAA	0.572												
PEAR1	375033	broad.mit.edu	37	1	156879622	156879622	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:156879622C>T	uc001fqj.1	+	11	1607	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	PEAR1_uc001fqk.1_Silent_p.A122A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	497	EGF-like 6.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTGTGCCCATGAGGCAG	0.662												
PVRL4	81607	broad.mit.edu	37	1	161049529	161049529	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:161049529C>T	uc001fxo.2	-	1	589	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	97	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCTCCACGCGGCCCTCGTA	0.687												
SIPA1L2	57568	broad.mit.edu	37	1	232561420	232561420	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232561420G>A	uc001hvg.3	-	15	4703	c.4545C>T	c.(4543-4545)aaC>aaT	p.N1515N	SIPA1L2_uc001hvf.3_Silent_p.N589N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1515					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACAGAATGTCGTTGGGCAGGG	0.642												
SIPA1L2	57568	broad.mit.edu	37	1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232626679G>A	uc001hvg.3	-	2	1905	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	583					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463												
OR2T6	254879	broad.mit.edu	37	1	248551010	248551010	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:248551010T>C	uc001iei.1	+	0	101	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V34A(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTGTGCCGTCTTCTTCATG	0.463												
EPC1	80314	broad.mit.edu	37	10	32580102	32580102	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:32580102T>C	uc001iwg.1	-	5	1234	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	322					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTATTAACTTTGAACTCCTTC	0.333												
TBC1D12	23232	broad.mit.edu	37	10	96163266	96163266	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96163266C>A	uc001kjr.2	+	0	1081	c.896C>A	c.(895-897)cCc>cAc	p.P299H		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	299						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTGCCCTTGCCCGCCGCGGAG	0.692												
C10orf129	142827	broad.mit.edu	37	10	96979715	96979715	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96979715C>T	uc001kke.3	+	8	1312	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	C10orf129_uc009xuu.1_Missense_Mutation_p.P306L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	396					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATTGCCACCTTATATTGTC	0.368												
DMBT1	1755	broad.mit.edu	37	10	124351971	124351971	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124351971G>A	uc001lgk.1	+	19	2466	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R777Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R787Q|DMBT1_uc021qag.1_Missense_Mutation_p.R777Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R787Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R400Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	787	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.622												
HMX3	340784	broad.mit.edu	37	10	124896723	124896723	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124896723G>C	uc010quc.2	+	1	550	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	Homo sapiens H6 family homeobox 3 (HMX3), mRNA.	184					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACTCCGAGGAAAGCAAAAA	0.677												
PAOX	196743	broad.mit.edu	37	10	135197588	135197588	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:135197588C>A	uc001lmv.3	+	3	1073	c.993C>A	c.(991-993)ttC>ttA	p.F331L	PAOX_uc001lmx.3_Missense_Mutation_p.F331L|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	469					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGAGCCCTTCTGGGAGCCAG	0.587												
PCF11	51585	broad.mit.edu	37	11	82878503	82878505	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:82878503_82878505delTTG	uc001ozx.4	+	6	2393_2395	c.2048_2050delTTG	c.(2047-2052)cttgtt>ctt	p.V686del	PCF11_uc010rsu.1_In_Frame_Del_p.V686del	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	686					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATGACTTCCTTGTTGTTGTGCA	0.330												
TRIM49	57093	broad.mit.edu	37	11	89531467	89531467	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:89531467A>T	uc001pdb.3	-	7	1519	c.1190T>A	c.(1189-1191)cTt>cAt	p.L397H		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	397	B30.2/SPRY.					intracellular	zinc ion binding	p.P396Q(1)|p.P396T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGCAGCATAAGTGGGGAGGT	0.428												
ANGPTL5	253935	broad.mit.edu	37	11	101762250	101762250	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:101762250C>T	uc001pgl.3	-	8	1523	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	309	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGGGCGACACCCATCATTAT	0.443												
TSPAN9	10867	broad.mit.edu	37	12	3389625	3389625	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr12:3389625C>T	uc001qlp.3	+	5	591	c.408C>T	c.(406-408)aaC>aaT	p.N136N	TSPAN9_uc021qtd.1_Silent_p.N136N	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	136						integral to plasma membrane|membrane fraction		p.K135R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCTGAAGAACGCCTGGAACA	0.657												
PABPC3	5042	broad.mit.edu	37	13	25671151	25671151	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:25671151G>A	uc001upy.3	+	0	876	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	272					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.R272Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398												
UGGT2	55757	broad.mit.edu	37	13	96530054	96530054	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:96530054T>C	uc001vmt.3	-	27	3455	c.3285A>G	c.(3283-3285)caA>caG	p.Q1095Q	UGGT2_uc001vmu.1_Silent_p.Q182Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1095					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCAAAGCATTGTCCTTCCA	0.403												
ADPRHL1	113622	broad.mit.edu	37	13	114107590	114107590	+	Missense_Mutation	SNP	C	C	T	rs149499588		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:114107590C>T	uc001vtq.1	-	0	250	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	55					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TTGTCACTCACGGGCCATTCT	0.632												
PEX11A	8800	broad.mit.edu	37	15	90226620	90226620	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr15:90226620C>T	uc002boi.3	-	2	827	c.732G>A	c.(730-732)ctG>ctA	p.L244L	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	244					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AACGGGTCTTCAGCTTCATCT	0.453												
TIGD7	91151	broad.mit.edu	37	16	3349388	3349400	+	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TTCAGGTTCCTTT	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:3349388_3349400delTTCAGGTTCCTTT	uc021tcc.1	-	0	1215_1227	c.1215_1227delAAAGGAACCTGAA	c.(1213-1227)aaaaaggaacctgaafs	p.K405fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.K405fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	405					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA	0.329												
CDH5	1003	broad.mit.edu	37	16	66429972	66429972	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:66429972C>T	uc002eom.4	+	7	1384	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	410	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.R410H(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATACTCCATCCGCAGGACCAG	0.493												
CDH15	1013	broad.mit.edu	37	16	89251737	89251737	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:89251737G>A	uc002fmt.3	+	4	736	c.659G>A	c.(658-660)cGc>cAc	p.R220H	CDH15_uc010cij.1_Missense_Mutation_p.R220H	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTGGACCGCGAGGTGAGG	0.706												
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:7578534C>A	uc002gim.2	-	4	590	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.3_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.K93N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(94)|p.K132R(37)|p.K132E(20)|p.K132Q(13)|p.Y126_K132delYSPALNK(12)|p.N131del(11)|p.K132M(10)|p.N131Y(8)|p.0?(8)|p.N131I(5)|p.K132T(5)|p.K132*(4)|p.N131fs*27(4)|p.N131fs*39(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.N131H(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_N131delALN(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.K132W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
PHF12	57649	broad.mit.edu	37	17	27240145	27240145	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:27240145T>C	uc002hdg.1	-	8	1974	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	482	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCAGCTGTTTGCAGGGAG	0.542												
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs349782	by1000genomes	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	uc002hvy.3	-	0	359_373	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184	NP_001158724	Q9BYR9	KRA24_HUMAN	Homo sapiens keratin associated protein 2-4 (KRTAP2-4), mRNA.	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.660												
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657												
KIF18B	146909	broad.mit.edu	37	17	43005601	43005601	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:43005601C>G	uc010wji.2	-	12	2179	c.2078G>C	c.(2077-2079)tGc>tCc	p.C693S	KIF18B_uc002iht.3_Missense_Mutation_p.C702S|KIF18B_uc010wjh.2_Missense_Mutation_p.C690S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGCTGGGCAAACGCGAGG	0.647												
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:55028016delT	uc002iuu.3	-	1	618	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393												
EPB41L3	23136	broad.mit.edu	37	18	5415838	5415838	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:5415838C>T	uc002kmt.1	-	12	2132	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	682	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.D681Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACTGTCACTCGGGTCATTGT	0.582												
SOGA2	23255	broad.mit.edu	37	18	8786006	8786020	+	In_Frame_Del	DEL	CGAGCCGCGCGGGAG	CGAGCCGCGCGGGAG	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:8786006_8786020delCGAGCCGCGCGGGAG	uc002knr.2	+	6	1946_1960	c.1804_1818delCGAGCCGCGCGGGAG	c.(1804-1818)cgagccgcgcgggagdel	p.RAARE602del	SOGA2_uc002knq.2_In_Frame_Del_p.RAARE602del|SOGA2_uc010dkw.1_In_Frame_Del_p.RAARE440del	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	953																	CCTGCGCCTCCGAGCCGCGCGGGAGCTGCACCGCC	0.707												
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:9886894A>G	uc002koi.4	+	1	867	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_uc002koh.4_Missense_Mutation_p.K73E|TXNDC2_uc021ugx.1_Missense_Mutation_p.K73E	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547												
NWD1	284434	broad.mit.edu	37	19	16860196	16860196	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:16860196G>A	uc002neu.4	+	5	1165	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NWD1_uc002net.4_Missense_Mutation_p.R113H|NWD1_uc002nev.4_Missense_Mutation_p.R42H|NWD1_uc021uqg.1_Missense_Mutation_p.R113H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGTGGAGCCGCGACTTGGTG	0.597												
MAST3	23031	broad.mit.edu	37	19	18218415	18218415	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:18218415C>T	uc002nhz.4	+	1	58	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	20							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GAGCCTGCCACGCCGAGGACG	0.572												
MLL2	9757	broad.mit.edu	37	19	36224327	36224327	+	Frame_Shift_Del	DEL	C	C	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:36224327delC	uc021usv.1	+	27	6877	c.6877delC	c.(6877-6879)cccfs	p.P2293fs	MLL2_uc021usu.1_Frame_Shift_Del_p.P1107fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	863	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCAGCACCTCCCCCATACAA	0.682			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
CD33	945	broad.mit.edu	37	19	51742917	51742917	+	Missense_Mutation	SNP	G	G	A	rs148758925	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:51742917G>A	uc002pwa.2	+	6	1109	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	357					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCTCCACCGAATACTCAGA	0.527												
MBOAT7	79143	broad.mit.edu	37	19	54677935	54677935	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:54677935C>G	uc002qdq.3	-	8	1488	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Missense_Mutation_p.D92H|MBOAT7_uc010yem.2_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.3_Missense_Mutation_p.D408H|MBOAT7_uc002qds.3_Missense_Mutation_p.D335H|MBOAT7_uc010yen.2_Missense_Mutation_p.D335H	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	408					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACATGTAGTCATAGGCGCGC	0.652												
MYCN	4613	broad.mit.edu	37	2	16082359	16082359	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:16082359C>T	uc002rci.3	+	1	473	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.T58M	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	58					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTGCTGCCCACGCCCCCGCTG	0.677			A		neuroblastoma							
SCN9A	6335	broad.mit.edu	37	2	167141183	167141183	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:167141183C>G	uc010fpl.3	-	11	2095	c.1754G>C	c.(1753-1755)aGg>aCg	p.R585T	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGTGAGCCCCTTCTGCTCTC	0.502												
COL6A3	1293	broad.mit.edu	37	2	238270475	238270475	+	Splice_Site	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:238270475C>G	uc002vwl.2	-	15	6349	c.6064_splice	c.e15-1	p.D2022_splice	COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2022	Nonhelical region.|VWFA 10.				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)		CAATGTTGTCCTACCGAAAGG	0.527												
SAMHD1	25939	broad.mit.edu	37	20	35547889	35547889	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr20:35547889G>A	uc002xgh.2	-	6	930	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	244	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GAATTAATAAGGTGCTCAAAC	0.368												
OXSM	54995	broad.mit.edu	37	3	25832620	25832620	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:25832620A>G	uc003cdn.3	+	1	216	c.109A>G	c.(109-111)Ata>Gta	p.I37V	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.I37V|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTGTGCCAATATCCAGATT	0.428												
PIK3CA	5290	broad.mit.edu	37	3	178916882	178916882	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:178916882G>A	uc003fjk.3	+	1	426	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	90	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGACGACTTTGTGACCTTCGG	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
UGT2B10	7365	broad.mit.edu	37	4	69696492	69696492	+	Silent	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:69696492G>T	uc003hee.3	+	5	1507	c.1482G>T	c.(1480-1482)ggG>ggT	p.G494G	UGT2B10_uc011cam.2_Silent_p.G410G	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	494					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGTGATTGGGTTCCTGCTGG	0.458												
FAM13A	10144	broad.mit.edu	37	4	89941642	89941642	+	Silent	SNP	C	C	T	rs147082682	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:89941642C>T	uc003hse.1	-	2	604	c.396G>A	c.(394-396)gcG>gcA	p.A132A	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	132	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S131*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGGCTGCAACGCTGAGGTGA	0.512												
PTGER4	5734	broad.mit.edu	37	5	40681502	40681502	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr5:40681502C>T	uc003jlz.3	+	1	999	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	136					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.A136A(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AAGCGATTGGCGGGCCTCACG	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HSP90AB1	3326	broad.mit.edu	37	6	44217321	44217321	+	Splice_Site	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr6:44217321G>T	uc003oxa.1	+	3	438	c.354_splice	c.e3+1	p.Q118_splice	HSP90AB1_uc011dvr.1_Splice_Site_p.Q118_splice|HSP90AB1_uc003oxb.1_Splice_Site_p.Q118_splice|HSP90AB1_uc011dvs.1_Splice_Site|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	118					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCTTCAGGTATTGCAGTT	0.403												
DPY19L2P1	554236	broad.mit.edu	37	7	35130052	35130052	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:35130052C>T	uc003teq.1	-	20	2240	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TATTTTTGTCCGAGCCCTTTA	0.264												
RABGEF1	27342	broad.mit.edu	37	7	66262470	66262470	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:66262470T>C	uc003tvf.3	+	9	1540	c.324T>C	c.(322-324)gaT>gaC	p.D108D	RABGEF1_uc003tvg.3_Silent_p.D43D|RABGEF1_uc003tvh.3_Silent_p.D235D|RABGEF1_uc010lag.3_Silent_p.D235D|RABGEF1_uc011kee.2_Silent_p.D249D|RABGEF1_uc003tvi.3_Silent_p.D69D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	452					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	p.A107A(1)|p.A107T(1)|p.S108F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAAGAAAGATCTTGCCATTC	0.358												
TRIM50	135892	broad.mit.edu	37	7	72734159	72734159	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:72734159C>T	uc003txy.1	-	2	683	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	161						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GATTCGGGTCCGGTTGTTCAC	0.562												
BAIAP2L1	55971	broad.mit.edu	37	7	97922864	97922864	+	Missense_Mutation	SNP	G	G	A	rs140138864		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:97922864G>A	uc003upj.3	-	13	1768	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	502	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCGATCATTCGTCACAGTCGG	0.547												
RELN	5649	broad.mit.edu	37	7	103389896	103389896	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:103389896T>C	uc022ajr.1	-	5	793	c.633A>G	c.(631-633)caA>caG	p.Q211Q	RELN_uc022ajq.1_Silent_p.Q211Q|RELN_uc010liz.3_Silent_p.Q211Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	211					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAATTGCAGTTGGTGGTAGG	0.353												
PARP12	64761	broad.mit.edu	37	7	139724367	139724367	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:139724367C>T	uc003vvl.1	-	11	2973	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	700						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGCTCACTGTCGGCTGCTGAA	0.522												
OR2F2	135948	broad.mit.edu	37	7	143632582	143632582	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:143632582T>C	uc011ktv.2	+	0	257	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCACATTTTCTTGCAGAACAT	0.522												
SLC4A2	6522	broad.mit.edu	37	7	150759094	150759094	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:150759094G>A	uc022apz.1	+	1	1060	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SLC4A2_uc003wit.4_Missense_Mutation_p.R7H|SLC4A2_uc011kve.2_5'Flank|SLC4A2_uc003wiu.4_5'Flank	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	7	Pro-rich.			R -> L (in Ref. 1; CAA44067).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.R7L(2)		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)		GCCCCTCGGCGCCCCGCCAAG	0.667												
TRIM14	9830	broad.mit.edu	37	9	100857227	100857227	+	Missense_Mutation	SNP	C	C	T	rs149392923		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:100857227C>T	uc004ayd.2	-	3	640	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	208						cytoplasm|intracellular	zinc ion binding	p.V208I(2)|p.P207L(1)|p.P207P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582												
C9orf163	158055	broad.mit.edu	37	9	139379109	139379109	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:139379109G>A	uc004chy.3	+	0	1163	c.209G>A	c.(208-210)gGg>gAg	p.G70E	SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA.	70							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GTGAGGGAGGGGGTGATATCC	0.687												
PRKX	5613	broad.mit.edu	37	X	3573336	3573336	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:3573336G>C	uc010nde.3	-	2	834	c.453C>G	c.(451-453)ttC>ttG	p.F151L		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	151	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTGCAGAGTAGAAGAGCCCCG	0.587												
MSL3	10943	broad.mit.edu	37	X	11790274	11790274	+	Splice_Site	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:11790274G>A	uc004cuw.3	+	11	1387	c.1282_splice	c.e11-1	p.V428_splice	MSL3_uc011mig.2_Splice_Site_p.V279_splice|MSL3_uc011mih.2_Splice_Site_p.V416_splice|MSL3_uc004cuy.3_Splice_Site_p.V262_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	428					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCTTTTTCCAGGTCCTCTCCT	0.443												
XK	7504	broad.mit.edu	37	X	37545375	37545375	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:37545375C>T	uc004ddq.3	+	0	243	c.161C>T	c.(160-162)aCg>aTg	p.T54M		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	54					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTGCAGCTCACGCTTCTCTTC	0.662												
UBA1	7317	broad.mit.edu	37	X	47069360	47069360	+	Silent	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:47069360G>C	uc004dhj.4	+	17	2188	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	UBA1_uc004dhk.4_Silent_p.L679L|UBA1_uc004dhm.3_Silent_p.L127L	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	679					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTGCGGCTGGCAGGCACTC	0.607												
OTUD5	55593	broad.mit.edu	37	X	48814296	48814296	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:48814296G>A	uc004dlu.3	-	0	598	c.537C>T	c.(535-537)gaC>gaT	p.D179D	OTUD5_uc004dlt.4_Silent_p.D179D|OTUD5_uc004dlv.3_Silent_p.D179D|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	179					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCTCATACTCGTCCTCACTGT	0.677												
TEX11	56159	broad.mit.edu	37	X	69871358	69871358	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:69871358G>A	uc004dyl.3	-	17	1632	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	TEX11_uc004dyk.3_Silent_p.N165N|TEX11_uc004dym.3_Silent_p.N475N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	490							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAGTGAAAACGTTCCTAGGGT	0.358												
CXorf57	55086	broad.mit.edu	37	X	105855567	105855567	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:105855567C>T	uc004emi.4	+	0	408	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CXorf57_uc004emj.4_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	86										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGCGACACGGTGCCCAAG	0.557												
TMEM164	84187	broad.mit.edu	37	X	109247264	109247264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:109247264G>T	uc004eom.3	+	1	601	c.262G>T	c.(262-264)Gag>Tag	p.E88*	TMEM164_uc004eon.2_Intron|TMEM164_uc010npq.3_Nonsense_Mutation_p.E88*	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	88						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGAAGGCAAGGAGAGCCTGAG	0.617												
TREX2	11219	broad.mit.edu	37	X	152710600	152710600	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152710600C>T	uc022chv.1	-	0	289	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	TREX2_uc010nud.2_Missense_Mutation_p.V97M|TREX2_uc011myp.2_Missense_Mutation_p.V97M|TREX2_uc010nue.2_Missense_Mutation_p.V139M|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	140					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	p.V97M(2)|p.V140M(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGCACCACGGCGCCATCA	0.657								Editing and processing nucleases				
ATP2B3	492	broad.mit.edu	37	X	152830482	152830482	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152830482A>T	uc004fht.1	+	18	3389	c.3263A>T	c.(3262-3264)gAa>gTa	p.E1088V	ATP2B3_uc004fhs.1_Missense_Mutation_p.E1088V|ATP2B3_uc010nuf.1_Missense_Mutation_p.E111V|ATP2B3_uc004fhu.1_Missense_Mutation_p.E11V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1088					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCGAGGAAGAGATCGAC	0.662												
