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
TNFRSF8	943	broad.mit.edu	37	1	12172031	12172031	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:12172031C>T	uc001atq.3	+	6	975	c.753C>T	c.(751-753)gaC>gaT	p.D251D	TNFRSF8_uc010obc.2_Silent_p.D140D	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	251					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACCTGGACGAGGCCGGCC	0.602												
NT5C1A	84618	broad.mit.edu	37	1	40131873	40131873	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:40131873G>A	uc001cdq.1	-	1	171	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	57					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGCTCGGGAGGACACAGCGA	0.582												
MSH4	4438	broad.mit.edu	37	1	76272802	76272802	+	Silent	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:76272802T>C	uc001dhd.2	+	2	679	c.564T>C	c.(562-564)ttT>ttC	p.F188F		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	188					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TATCCCAGTTTGCAGACAACA	0.373								Mismatch excision repair (MMR)				
ELTD1	64123	broad.mit.edu	37	1	79392712	79392712	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:79392712G>T	uc001diq.4	-	7	1098	c.942C>A	c.(940-942)aaC>aaA	p.N314K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	314					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAATAAGAAGTTGTCAGATG	0.318												
CCDC76	54482	broad.mit.edu	37	1	100602642	100602643	+	Splice_Site	INS	-	-	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:100602642_100602643insT	uc001dsv.3	+	3	280	c.261_splice	c.e3+1	p.P87_splice	CCDC76_uc010ouf.2_Splice_Site|CCDC76_uc009wea.3_Splice_Site_p.P87_splice	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	87					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ACCAAAACCTGTAAGTGTTTGA	0.337												
KCND3	3752	broad.mit.edu	37	1	112524445	112524445	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:112524445G>A	uc001ebu.1	-	1	1384	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	KCND3_uc001ebv.1_Missense_Mutation_p.R302C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGGAGTGGCGGGAAAACTTG	0.582												
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	Splice_Site	SNP	A	A	G	rs9729175	by1000genomes	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:148933289A>G	uc010pbc.1	+	3		c.236_splice	c.e3-2		LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		TGCTGCCCGCAGGATATTGTG	0.562												
FLG	2312	broad.mit.edu	37	1	152283656	152283656	+	Missense_Mutation	SNP	G	G	A	rs144184134	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152283656G>A	uc001ezu.1	-	2	3742	c.3706C>T	c.(3706-3708)Cgt>Tgt	p.R1236C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1236	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)			TCATGGTGACGTGACCCTGAG	0.562									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152328935	152328935	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152328935C>T	uc001ezw.4	-	2	1400	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	443	Ser-rich.						calcium ion binding|structural molecule activity	p.F442L(1)|p.E443V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATGTTGTTCGAACCCAGAG	0.448												
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152857174G>A	uc021ozk.1	+	0	276	c.276G>A	c.(274-276)ccG>ccA	p.P92P	SMCP_uc001fat.3_Silent_p.P92P	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(2)|p.P92L(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537												
USH2A	7399	broad.mit.edu	37	1	215799138	215799138	+	Silent	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:215799138T>C	uc001hku.1	-	71	15981	c.15594A>G	c.(15592-15594)acA>acG	p.T5198T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5198					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)		GGTGGGTGTCTGTGAATGTGG	0.463										HNSCC(13;0.011)		
RYR2	6262	broad.mit.edu	37	1	237806746	237806746	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:237806746A>T	uc001hyl.1	+	48	7462	c.7342_splice	c.e48+1	p.D2448_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2448	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATAGCCAAAGGTAAGGCCA	0.438												
PCDH15	65217	broad.mit.edu	37	10	55944974	55944974	+	Missense_Mutation	SNP	C	C	T	rs61735473	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:55944974C>T	uc010qhy.1	-	12	1770	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	PCDH15_uc010qhq.2_Missense_Mutation_p.V459I|PCDH15_uc010qhr.2_Missense_Mutation_p.V454I|PCDH15_uc021pqv.1_Missense_Mutation_p.V454I|PCDH15_uc021pqw.1_Missense_Mutation_p.V466I|PCDH15_uc010qht.2_Missense_Mutation_p.V461I|PCDH15_uc021pqx.1_Missense_Mutation_p.V454I|PCDH15_uc001jjv.1_Missense_Mutation_p.V432I|PCDH15_uc021pqy.1_Missense_Mutation_p.V454I|PCDH15_uc021pqz.1_Missense_Mutation_p.V432I|PCDH15_uc010qhv.1_Missense_Mutation_p.V454I|PCDH15_uc010qhw.1_Missense_Mutation_p.V417I|PCDH15_uc010qhx.1_Missense_Mutation_p.V454I|PCDH15_uc010qhz.1_Missense_Mutation_p.V454I|PCDH15_uc010qia.1_Missense_Mutation_p.V432I|PCDH15_uc001jju.1_Missense_Mutation_p.V454I|PCDH15_uc010qib.1_Missense_Mutation_p.V432I|PCDH15_uc001jjw.3_Missense_Mutation_p.V454I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	454	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V454I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTGTGTGACGGTGAAGACT	0.393										HNSCC(58;0.16)		
WDR96	80217	broad.mit.edu	37	10	105928529	105928529	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:105928529C>T	uc001kxw.3	-	20	2780	c.2664G>A	c.(2662-2664)tcG>tcA	p.S888S	WDR96_uc009xxq.3_Silent_p.S196S|WDR96_uc001kxx.4_Silent_p.S889S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	888										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACAGCCATCGAATTCCAAC	0.373												
ADRB1	153	broad.mit.edu	37	10	115804336	115804336	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:115804336C>T	uc001lba.3	+	0	531	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	149					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CATCGAGACCCTGTGTGTCAT	0.682												
CD6	923	broad.mit.edu	37	11	60780934	60780934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:60780934G>A	uc001nqq.3	+	6	1415	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	CD6_uc009yni.3_Missense_Mutation_p.R296Q|CD6_uc009ynj.3_Missense_Mutation_p.R274Q|CD6_uc001nqp.3_Missense_Mutation_p.R397Q|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.R397Q|CD6_uc001nqt.3_Missense_Mutation_p.R397Q	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	397					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AAGGAATCTCGGGAGCTAATG	0.443												
PPP2R5B	5526	broad.mit.edu	37	11	64695622	64695622	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:64695622G>T	uc001obz.3	+	3	876	c.583G>T	c.(583-585)Gtc>Ttc	p.V195F	PPP2R5B_uc001oby.3_Missense_Mutation_p.V195F	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	195					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCAAAAGTTTGTCCTGATGGT	0.582												
SNX32	254122	broad.mit.edu	37	11	65617743	65617744	+	Splice_Site	INS	-	-	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:65617743_65617744insT	uc001ofr.3	+	4	501	c.374_splice	c.e4+1	p.A125_splice	SNX32_uc010rop.1_3'UTR	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	125	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGCTGGAAGCGTGAGTGCCCCC	0.554												
CABP4	57010	broad.mit.edu	37	11	67222962	67222962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:67222962C>T	uc001olo.3	+	0	145	c.68C>T	c.(67-69)gCg>gTg	p.A23V	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	23					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCCCCCTGCGGGGGTTGTG	0.632												
AMOTL1	154810	broad.mit.edu	37	11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:94554698G>A	uc001pfb.3	+	3	1294	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_uc001pfc.3_Missense_Mutation_p.R325H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	375						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602												
IL26	55801	broad.mit.edu	37	12	68619233	68619233	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr12:68619233C>G	uc001stx.1	-	1	254	c.219G>C	c.(217-219)aaG>aaC	p.K73N		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	73					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CCATAAACTGCTTTTTTGTTT	0.274												
RCBTB1	55213	broad.mit.edu	37	13	50140816	50140816	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:50140816C>T	uc001vde.1	-	3	476	c.215G>A	c.(214-216)tGt>tAt	p.C72Y		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	72					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CTTCTTTCCACATAAGCCTTC	0.408												
ABCC4	10257	broad.mit.edu	37	13	95715080	95715080	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:95715080T>C	uc001vmd.4	-	25	3363	c.3244A>G	c.(3244-3246)Agt>Ggt	p.S1082G	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.S1035G	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1082	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ATGAGGGAACTTTTTCCAGCT	0.398												
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr14:20010235A>G	uc001vwc.3	-	4	975	c.923T>C	c.(922-924)gTt>gCt	p.V308A	POTEM_uc001vwb.3_Non-coding_Transcript|P712P_uc001vwd.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368												
RYR3	6263	broad.mit.edu	37	15	33873724	33873724	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:33873724G>T	uc001zhi.3	+	13	1523	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	RYR3_uc010bar.3_Missense_Mutation_p.V485F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	485					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTGGCCCTTGTCTTAAATTG	0.438												
SLTM	79811	broad.mit.edu	37	15	59181723	59181723	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:59181723G>C	uc002afp.3	-	15	2198	c.2110C>G	c.(2110-2112)Cga>Gga	p.R704G	SLTM_uc002afn.3_Missense_Mutation_p.R246G|SLTM_uc002afo.3_Missense_Mutation_p.R686G|SLTM_uc002afq.3_Missense_Mutation_p.R273G|SLTM_uc010bgd.3_Missense_Mutation_p.R273G	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	704	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCTTTCTCGAGCAATCCGT	0.413												
CYP1A2	1544	broad.mit.edu	37	15	75042328	75042328	+	Silent	SNP	G	G	A	rs17861153	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:75042328G>A	uc002ayr.1	+	1	313	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	83			T -> M (in allele CYP1A2*9).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.T83T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TTGGCTCCACGCCCGTGCTGG	0.667												
IL4R	3566	broad.mit.edu	37	16	27374339	27374339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:27374339C>T	uc002don.3	+	10	1908	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	IL4R_uc002dop.4_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.3_Nonsense_Mutation_p.R556*|IL4R_uc002doo.3_Nonsense_Mutation_p.R396*	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	556	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATCCTCCGCCGAAATGTCCT	0.637												
IRX6	79190	broad.mit.edu	37	16	55361572	55361572	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:55361572C>T	uc002ehy.3	+	3	1021	c.488C>T	c.(487-489)gCc>gTc	p.A163V	IRX6_uc002ehx.3_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACACTCAAGGCCTGGCTCAAC	0.592												
SOX9	6662	broad.mit.edu	37	17	70118954	70118954	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:70118954C>T	uc002jiw.3	+	1	898	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	176					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAAGTACCAGCCGCGGCGGAG	0.652												
OTOP3	347741	broad.mit.edu	37	17	72943010	72943010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:72943010G>A	uc010wrr.2	+	5	1060	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	OTOP3_uc010wrq.2_Missense_Mutation_p.V336I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	354						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGTGTGTGCGTCTTTGTGCT	0.627												
EPB41L3	23136	broad.mit.edu	37	18	5395093	5395093	+	Silent	SNP	C	C	A	rs144676596		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:5395093C>A	uc002kmt.1	-	20	3212	c.3126G>T	c.(3124-3126)acG>acT	p.T1042T	EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1042	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T1042T(2)		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						CTGCATCCCCCGTGATGACTA	0.448												
FBXO15	201456	broad.mit.edu	37	18	71791770	71791770	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:71791770G>C	uc002llf.2	-	6	1029	c.949C>G	c.(949-951)Cat>Gat	p.H317D	FBXO15_uc002lle.2_Missense_Mutation_p.H241D	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	241										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGATGAAAATGAAGATTTGCC	0.328												
FUT5	2527	broad.mit.edu	37	19	5867028	5867028	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:5867028G>A	uc002mdo.4	-	1	880	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	FUT5_uc010duo.3_Missense_Mutation_p.R237C|FUT5_uc021uno.1_Missense_Mutation_p.R237C	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGTGGGAGCGTCCGTACACG	0.622												
MUC16	94025	broad.mit.edu	37	19	9091524	9091524	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:9091524G>A	uc002mkp.3	-	0	495	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	97	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTTTGCTCGGAGTGTGTCA	0.537												
ZNF833P	401898	broad.mit.edu	37	19	11796063	11796063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:11796063G>A	uc021upi.1	+	2	679	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CAGTGAAGATGAACCTTATAA	0.353												
LYPD4	147719	broad.mit.edu	37	19	42342222	42342222	+	Missense_Mutation	SNP	C	C	T	rs142442476	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:42342222C>T	uc002orp.1	-	3	1309	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	LYPD4_uc002orq.1_Missense_Mutation_p.V74I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	109						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GACCGGCAGACGCGACTGTAG	0.522												
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443												
PSG4	5672	broad.mit.edu	37	19	43708378	43708378	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43708378C>T	uc002ovy.3	-	1	192	c.90G>A	c.(88-90)ccG>ccA	p.P30P	PSG4_uc002ovz.3_Silent_p.P30P|PSG4_uc002owb.3_Silent_p.P30P	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	30					defense response|female pregnancy	extracellular region		p.P30P(3)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAGTTGTGGGCGGATTCCAGA	0.468												
NLRP4	147945	broad.mit.edu	37	19	56370207	56370207	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:56370207T>A	uc002qmd.4	+	2	1870	c.1448T>A	c.(1447-1449)tTg>tAg	p.L483*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.3_Nonsense_Mutation_p.L314*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	483							ATP binding	p.E482K(1)|p.L483F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTACAGGAATTGCTAGTTGCC	0.423												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
RAD51AP2	729475	broad.mit.edu	37	2	17692095	17692095	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:17692095G>A	uc002rcl.1	-	2	3480	c.3456C>T	c.(3454-3456)taC>taT	p.Y1152Y	RAD51AP2_uc010exn.1_Silent_p.Y1143Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1152	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAAGTTTCCGTAACACATTT	0.338												
TMEM17	200728	broad.mit.edu	37	2	62728426	62728426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:62728426C>T	uc002sbt.2	-	3	855	c.515G>A	c.(514-516)cGt>cAt	p.R172H	TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	172						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GAGGTGGAAACGAACTGCCAA	0.423												
TGFA	7039	broad.mit.edu	37	2	70683568	70683568	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:70683568C>T	uc002sgs.4	-	3	516	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	TGFA_uc010fdq.3_Missense_Mutation_p.V96M|TGFA_uc010fdr.3_Missense_Mutation_p.V95M|TGFA_uc002sgt.4_Missense_Mutation_p.V89M|TGFA_uc002sgu.3_Missense_Mutation_p.V89M|TGFA_uc002sgv.3_Missense_Mutation_p.V90M|TGFA_uc002sgw.3_Missense_Mutation_p.V89M	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	90					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	p.V90M(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GCAGCCACCACGGCCAGGAGG	0.577												
RGPD3	653489	broad.mit.edu	37	2	107040566	107040566	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:107040566T>A	uc010ywi.1	-	19	3914	c.3857A>T	c.(3856-3858)gAt>gTt	p.D1286V		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1286					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTTGACTCATCAAAGTGGAA	0.408												
JAG1	182	broad.mit.edu	37	20	10644609	10644612	+	Splice_Site	DEL	ACGA	ACGA	-			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:10644609_10644612delACGA	uc002wnw.2	-	3	955	c.439_splice	c.e3+1	p.Q147_splice		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	147					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGCGATACTTACGAACGGTGTCAT	0.466									Alagille Syndrome			
RALGAPA2	57186	broad.mit.edu	37	20	20493785	20493785	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:20493785G>A	uc002wrz.3	-	31	4371	c.4228C>T	c.(4228-4230)Cat>Tat	p.H1410Y	RALGAPA2_uc002wry.3_Missense_Mutation_p.H1025Y|RALGAPA2_uc010zsg.2_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1410					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCTTCCACATGGGCATTGTCA	0.547												
MYH7B	57644	broad.mit.edu	37	20	33584258	33584258	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:33584258A>G	uc002xbi.2	+	28	3496	c.3179A>G	c.(3178-3180)cAg>cGg	p.Q1060R		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1018						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGACCTGCAGGCCGAGGAG	0.672												
HMGB1P1	10357	broad.mit.edu	37	20	56063608	56063609	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:56063608_56063609delAT								MIR5095 (65330 upstream) : CTCFL (270 downstream)																							ATATGCAGCAATATCCTTTTCG	0.436												
NPBWR2	2832	broad.mit.edu	37	20	62737704	62737704	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:62737704G>A	uc011abt.2	-	0	481	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	161						plasma membrane	opioid receptor activity|protein binding	p.R161W(2)|p.R161Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TTCGCCCCCCGGTAGGTGCGC	0.632												
MME	4311	broad.mit.edu	37	3	154832945	154832945	+	Splice_Site	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:154832945G>A	uc010hvr.1	+	4	569	c.358_splice	c.e4+1	p.D120_splice	MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	120					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GTTTTGAAAGGTTAGTAGAGA	0.378												
PLD1	5337	broad.mit.edu	37	3	171330189	171330189	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:171330189C>G	uc003fhs.3	-	24	3109	c.2762G>C	c.(2761-2763)gGa>gCa	p.G921A	PLD1_uc003fht.3_Missense_Mutation_p.G883A|PLD1_uc003fhu.4_Missense_Mutation_p.G215A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	921	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.G921*(2)|p.L920L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCACGCTTTCCCAGCATGCT	0.507												
LPHN3	23284	broad.mit.edu	37	4	62452954	62452954	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:62452954G>A	uc010ihh.3	+	1	238	c.65G>A	c.(64-66)cGt>cAt	p.R22H	LPHN3_uc003hcq.4_Missense_Mutation_p.R22H|LPHN3_uc010ihg.1_Missense_Mutation_p.R90H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	22					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTCAGCCGTGCCCCAATT	0.453												
CXCL1	2919	broad.mit.edu	37	4	74735288	74735288	+	Splice_Site	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:74735288G>T	uc003hhh.2	+	1	179	c.100_splice	c.e1+1	p.G34_splice		NM_001511	NP_001502	P09341	GROA_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) (CXCL1), transcript variant 1, mRNA.	34					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCGCAGCAGGTGGGTACCGG	0.726												
EPGN	255324	broad.mit.edu	37	4	75174232	75174232	+	Translation_Start_Site	SNP	A	A	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:75174232A>T	uc003hic.1	+	0					BC016361_uc003hhv.1_Intron|EPGN_uc003hhw.3_5'UTR|EPGN_uc003hib.1_5'UTR|EPGN_uc003hhy.1_5'UTR|EPGN_uc003hhz.1_5'UTR|EPGN_uc010iin.1_5'UTR|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_5'UTR			Q6UW88	EPGN_HUMAN	Homo sapiens epithelial mitogen homolog (mouse) (EPGN), mRNA.						activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			AGAGAAAGAAAGTTAAGCAAC	0.363												
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Silent	SNP	C	C	T	rs143281239		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:96761394C>T	uc003htr.4	+	0	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.D31E(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTCAAATGACGCTACATTTG	0.502												
PRMT10	90826	broad.mit.edu	37	4	148591889	148591889	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:148591889G>A	uc003ilc.3	-	4	891	c.749C>T	c.(748-750)tCc>tTc	p.S250F	PRMT10_uc003ild.3_Missense_Mutation_p.S137F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	250						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACAACTAGGGACACTCTATA	0.328												
PIK3R1	5295	broad.mit.edu	37	5	67592121	67592121	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:67592121T>C	uc003jva.3	+	14	2517	c.1937T>C	c.(1936-1938)tTt>tCt	p.F646S	PIK3R1_uc003jvc.3_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.3_Missense_Mutation_p.F376S|PIK3R1_uc003jve.3_Missense_Mutation_p.F325S|PIK3R1_uc021xzn.1_Missense_Mutation_p.F283S	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	646	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GATGGCACTTTTCTTGTCCGG	0.453			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
LNPEP	4012	broad.mit.edu	37	5	96320900	96320900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:96320900C>T	uc003kmv.1	+	2	1491	c.977C>T	c.(976-978)aCc>aTc	p.T326I	LNPEP_uc003kmw.1_Missense_Mutation_p.T312I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	326					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGCAATACACCGCTTTATCA	0.378												
FAT2	2196	broad.mit.edu	37	5	150925630	150925630	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:150925630G>A	uc003lue.4	-	8	5071	c.5058C>T	c.(5056-5058)agC>agT	p.S1686S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1686	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.M1685V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGAGGGGCTCATAGCAG	0.443												
ENPP4	22875	broad.mit.edu	37	6	46107513	46107513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:46107513G>A	uc003oxy.3	+	1	452	c.193G>A	c.(193-195)Gtt>Att	p.V65I		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	65						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGTTAAAAATGTTTTTATCAC	0.363												
KIF25	3834	broad.mit.edu	37	6	168443353	168443353	+	Silent	SNP	G	G	A	rs147561163		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:168443353G>A	uc003qwk.1	+	7	1204	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	314					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.P314P(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652												
SDK1	221935	broad.mit.edu	37	7	4153898	4153898	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:4153898G>A	uc003smx.3	+	24	3954	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	SDK1_uc010kso.3_Missense_Mutation_p.R548Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1272					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCGGACGCGGGAGTCAGGT	0.652												
HGF	3082	broad.mit.edu	37	7	81386513	81386513	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:81386513G>A	uc003uhl.3	-	3	639	c.474C>T	c.(472-474)caC>caT	p.H158H	HGF_uc003uhm.3_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.3_Silent_p.H158H|HGF_uc022agw.1_Silent_p.H158H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	158	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCTGTGTTCGTGTGGTATCA	0.393												
SAMD12	401474	broad.mit.edu	37	8	119452171	119452171	+	Silent	SNP	C	C	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr8:119452171C>G	uc003yom.2	-	2	351	c.222G>C	c.(220-222)gtG>gtC	p.V74V	SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	74										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCCATAGAGCCACCGGTTTAG	0.428												
CELP	1057	broad.mit.edu	37	9	135961717	135961717	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr9:135961717C>T	uc011mcu.1	+	3	552	c.459C>T	c.(457-459)gcC>gcT	p.A153A						Homo sapiens carboxyl ester lipase pseudogene (CELP), non-coding RNA.																		GGGTGGGGGCCGACCATAGAG	0.602												
WWC3	55841	broad.mit.edu	37	X	10106937	10106937	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:10106937C>T	uc004csx.4	+	20	3243	c.3045C>T	c.(3043-3045)gaC>gaT	p.D1015D	WWC3_uc010nds.3_Silent_p.D679D|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	1015										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGCTTCGGGACGAGCGGCTCC	0.711												
MAGED2	10916	broad.mit.edu	37	X	54841851	54841851	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:54841851C>T	uc004dtk.1	+	11	1651	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	519										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCAACTGGGACGAAGCTGATA	0.617												
NLGN3	54413	broad.mit.edu	37	X	70368006	70368006	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:70368006A>G	uc004dzd.2	+	1	741	c.407A>G	c.(406-408)gAg>gGg	p.E136G	NLGN3_uc004dzb.3_Missense_Mutation_p.E136G|NLGN3_uc011mps.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.3_Missense_Mutation_p.E19G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	136					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TACATCCAGGAGCCCAACGAA	0.612												
ATRX	546	broad.mit.edu	37	X	76937694	76937694	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:76937694C>A	uc004ecp.4	-	8	3286	c.3054G>T	c.(3052-3054)aaG>aaT	p.K1018N	ATRX_uc004ecq.4_Missense_Mutation_p.K980N|ATRX_uc004eco.4_Missense_Mutation_p.K803N|ATRX_uc004ecr.2_Missense_Mutation_p.K950N|ATRX_uc010nlx.1_Missense_Mutation_p.K989N|ATRX_uc010nly.1_Missense_Mutation_p.K963N	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1018					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCTCAGGTAACTTTTCAGTGC	0.308			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
STAG2	10735	broad.mit.edu	37	X	123205085	123205085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:123205085T>A	uc004eua.3	+	24	2849	c.2445T>A	c.(2443-2445)taT>taA	p.Y815*	STAG2_uc004etz.4_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y815*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	815					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						CATTAGTGTATACCCCTGATT	0.363												
