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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CLOCK	9575	broad.mit.edu	37	4	56325372	56325372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:56325372C>T	uc003haz.1	-	10	1542	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CLOCK_uc003hba.1_Missense_Mutation_p.E206K	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	206					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E206E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTAGATGGCTCCTTTGGGTCT	0.294000														26			20		0	0	0.012319	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:75312457G>A	uc021xpc.1	+	1	478	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	90					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000														55			39		0	0	0.014410	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103525627	103525627	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:103525627C>T	uc001vpu.2	+	21	4382	c.4260C>T	c.(4258-4260)ttC>ttT	p.F1420F	BIVM-ERCC5_uc001vpw.3_Silent_p.F966F	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1391					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										AGCGGTATTTCGGCTGGAACA	0.383000														67			44		0	0	0.014410	0	0
ZNF676	163223	broad.mit.edu	37	19	22363491	22363491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:22363491C>T	uc002nqs.1	-	2	1346	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G343A(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAAGCTTTCCCGCATTCTTC	0.408000														43			15		0	0	0.003163	0	0
SASS6	163786	broad.mit.edu	37	1	100587028	100587028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:100587028G>A	uc001dsu.3	-	4	530	c.389C>T	c.(388-390)cCt>cTt	p.P130L	SASS6_uc009wdz.3_5'UTR	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	130					centriole replication	centriole		p.P130L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATGCTTAAAAGGATTTGTCTC	0.348000														23			21		0	0	0.008871	0	0
NR3C1	2908	broad.mit.edu	37	5	142689668	142689668	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:142689668G>A	uc003lnd.3	-	3	2456	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	NR3C1_uc003lmy.3_Silent_p.L489L|NR3C1_uc003lmz.3_Silent_p.L153L|NR3C1_uc003lna.3_Silent_p.L488L|NR3C1_uc003lnb.3_Silent_p.L488L|NR3C1_uc011dbk.2_Silent_p.L91L|NR3C1_uc003lnf.3_Silent_p.L489L|NR3C1_uc003lne.3_Silent_p.L488L|NR3C1_uc003lnc.3_Silent_p.L488L|NR3C1_uc021yfa.1_Silent_p.L488L|NR3C1_uc021yfb.1_Silent_p.L488L	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	488	Hinge.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTACCTTCCAGGTTCATTCCA	0.343000														17			18		0	0	0.008871	0	0
SCAF4	57466	broad.mit.edu	37	21	33057751	33057751	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:33057751G>A	uc002ypd.2	-	17	2682	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	SCAF4_uc002ype.2_Silent_p.S752S|SCAF4_uc010glu.2_Silent_p.S737S|SCAF4_uc002ypf.1_Silent_p.S426S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	752						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGGAGGAATGGATACTGGTG	0.453000														54			38		0	0	0.007835	0	0
GRIA3	2892	broad.mit.edu	37	X	122551445	122551445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:122551445G>A	uc004etq.4	+	10	1985	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	GRIA3_uc004etr.4_Missense_Mutation_p.G565R|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G549R	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	565					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.I564V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGCTTACATTGGAGTCAGCGT	0.438000														150			119		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13714710	13714710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:13714710C>T	uc003jfd.2	-	74	12971	c.12929G>A	c.(12928-12930)aGc>aAc	p.S4310N	DNAH5_uc003jfc.2_Missense_Mutation_p.S478N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4310					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACCTCAGGGCTGTCATAGGC	0.502000									Kartagener syndrome					23			18		0	0	0.006122	0	0
FAM134A	79137	broad.mit.edu	37	2	220044464	220044464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:220044464C>T	uc002vjw.4	+	2	534	c.398C>T	c.(397-399)cCa>cTa	p.P133L	CNPPD1_uc002vju.4_5'Flank|CNPPD1_uc002vjv.3_5'Flank|FAM134A_uc010fwc.3_5'UTR|FAM134A_uc002vjx.3_5'Flank	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	133						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCATCCCCAGAGGAGCCA	0.572000														64			42		0	0	0.014410	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:99932099C>T	uc001pga.3	+	9	1640	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000														27			22		0	0	0.012319	0	0
LGALS9	3965	broad.mit.edu	37	17	25970616	25970616	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:25970616C>T	uc002gzp.3	+	4	628	c.510C>T	c.(508-510)ttC>ttT	p.F170F	LGALS9_uc002gzq.3_Intron|LGALS9_uc002gzr.3_Intron|LGALS9_uc010waa.2_Silent_p.F113F	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	170					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTGTCTGTTTCCCACCCAGGC	0.607000														23			12		0	0	0.006122	0	0
HSD17B14	51171	broad.mit.edu	37	19	49335008	49335008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:49335008G>A	uc002pkv.1	-	4	552	c.286C>T	c.(286-288)Cca>Tca	p.P96S	HSD17B14_uc010emk.1_Missense_Mutation_p.P96S	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	96					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCCTCTGTGGGGGTGGGTCT	0.622000														48			117		0	0	0.014410	0	0
ERN2	10595	broad.mit.edu	37	16	23703508	23703508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:23703508G>A	uc002dma.4	-	17	2558	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y	ERN2_uc010bxp.3_Missense_Mutation_p.H745Y	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	749	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTCACCGTGGACCTCTTCC	0.612000														67			58		0	0	0.014410	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522294	144522294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:144522294G>A	uc003yyd.2	-	10	2761	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	911					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGAGATGAAGGAAGGCAGCTT	0.667000														17			26		0	0	0.004656	0	0
PSMD3	5709	broad.mit.edu	37	17	38142870	38142870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:38142870G>A	uc002htn.1	+	2	618	c.454G>A	c.(454-456)Gga>Aga	p.G152R	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.G53R	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	152					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCCCGCACGGGAAAAGCTGC	0.507000														99			69		0	0	0.014410	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478632	21478632	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:21478632A>C	uc003cce.3	-	4	911	c.503T>G	c.(502-504)gTt>gGt	p.V168G	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	168	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.V168I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTTGTCATAACACTGCTTTT	0.443000														65			41		0	0	0.011902	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789847	133789847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:133789847G>A	uc001qgx.4	-	17	4004	c.3773C>T	c.(3772-3774)cCc>cTc	p.P1258L		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1258	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCTGGGAGGGGGAGCCTGT	0.692000														33			5		0	0	0.001168	0	0
SENP3	26168	broad.mit.edu	37	17	7467989	7467989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:7467989C>T	uc002ghm.3	+	2	1046	c.763C>T	c.(763-765)Cca>Tca	p.P255S	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_Missense_Mutation_p.P90S	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	255					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				ACAATCTGGGCCAGAAGGGGA	0.587000														39			14		0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38991749	38991749	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:38991749C>T	uc021wvy.1	-	0	304	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	35					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTTTTCTCCTTTTGGATGG	0.512000														75			59		0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41450636	41450636	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:41450636G>A	uc002yyq.1	-	25	5141	c.4689C>T	c.(4687-4689)ttC>ttT	p.F1563F	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1563	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.F1563F(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGCGTAGCGAAGTTGGCCT	0.592000														22			12		0	0	0.001855	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457813	144457813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:144457813C>T	uc003ijg.3	+	10	1939	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	493	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CAAGCTGCTCCCTAAGTTAAA	0.378000														12			9		0	0	0.008291	0	0
DENND5A	23258	broad.mit.edu	37	11	9225655	9225656	+	Missense_Mutation	DNP	GG	AA	AA	rs146129513		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:9225655_9225656GG>AA	uc001mhl.3	-	3	757_758	c.500_501CC>TT	c.(499-501)ccc>cTT	p.P167L	DENND5A_uc010rbw.2_Missense_Mutation_p.P167L|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	167										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCAGCAGGGGGAGCATGTAG	0.515000														43			22		0	0	0.004672	0	0
RFX6	222546	broad.mit.edu	37	6	117250008	117250008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:117250008C>T	uc003pxm.3	+	17	2548	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	829					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGCAGCATTCGTTCACTGCC	0.448000														48			35		0	0	0.012213	0	0
C3orf67	200844	broad.mit.edu	37	3	58855130	58855130	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:58855130G>A	uc003dkt.1	-	8	973	c.564C>T	c.(562-564)gcC>gcT	p.A188A	C3orf67_uc003dks.1_Silent_p.A3A|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.A3A|C3orf67_uc003dkw.3_Silent_p.A96A	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	188										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTATCAGCAAGGCTGACATTT	0.388000														27			29		0	0	0.007291	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433084	140433084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140433084C>T	uc003lik.1	+	0	2106	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	677					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGGATCCAACCAAGCA	0.448000														69			59		0	0	0.014410	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554577	44554577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:44554577C>T	uc010xdb.2	-	0	1873	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R545*(1)|p.R545R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGAGTTTATCGTCGGGAGAA	0.567000														296			26		0	0	0.012213	0	0
FBXW10	10517	broad.mit.edu	37	17	18653121	18653121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:18653121G>A	uc002gul.3	+	2	989	c.757G>A	c.(757-759)Gat>Aat	p.D253N	FBXW10_uc002guj.3_Missense_Mutation_p.D253N|FBXW10_uc002guk.3_Missense_Mutation_p.D253N|FBXW10_uc010cqh.2_Missense_Mutation_p.D253N	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	253										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCCAGGGTACGATCCCTGCAA	0.483000														124			57		0	0	0.014410	0	0
ALB	213	broad.mit.edu	37	4	74283809	74283809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:74283809C>T	uc003hgs.4	+	11	1506	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	ALB_uc011cbe.2_Missense_Mutation_p.S157F|ALB_uc003hgw.4_Missense_Mutation_p.S286F|ALB_uc011cbf.2_Missense_Mutation_p.S368F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	478	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S478F(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CTTTAGCTATCCGTGGTCCTG	0.443000											OREG0007698	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ALB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		38			18		0	0	0.006122	0	0
C6orf221	154288	broad.mit.edu	37	6	74073478	74073478	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:74073478C>T	uc003pgt.4	+	2	602	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	183										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						AGCAGTCTCTCCAGGCTGCCA	0.667000														20			23		0	0	0.003330	0	0
SMURF2	64750	broad.mit.edu	37	17	62553786	62553786	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:62553786G>A	uc002jep.1	-	12	1759	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	SMURF2_uc002jeq.1_Silent_p.F216F|SMURF2_uc002jer.1_Silent_p.F216F	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	457	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTGAATACTGGAAGAGGCCAT	0.333000														50			35		0	0	0.004878	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256358	140256358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140256358C>T	uc003lic.2	+	0	1428	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S434L	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.627000														96			74		0	0	0.014410	0	0
RASD2	23551	broad.mit.edu	37	22	35947777	35947777	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:35947777G>C	uc003anx.3	+	2	704	c.499G>C	c.(499-501)Gcc>Ccc	p.A167P	RASD2_uc003any.3_Missense_Mutation_p.A167P	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	167					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGAGAACTGCGCCTACTTCGA	0.627000														19			12		0	0	0.013537	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772613	5772613	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:5772613C>T	uc003zjl.4	+	22	3746	c.3555C>T	c.(3553-3555)tcC>tcT	p.S1185S	KIAA1432_uc003zji.3_Silent_p.S1143S	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1222						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAAGTAGCTCCATGGTGGATG	0.428000														6			20		0	0	0.010504	0	0
AX746964	0	broad.mit.edu	37	5	140242880	140242880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140242880C>T	uc003lhy.1	-	0	345	c.96G>A	c.(94-96)atG>atA	p.M32I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		TGTACCTGATCATCGCCATCT	0.652000														17			9		0	0	0.008291	0	0
LOC646813	646813	broad.mit.edu	37	11	50378132	50378132	+	RNA	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:50378132G>A	uc001nhe.2	+	4		c.762G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		AGAAGAAGAAGGATAAGGATG	0.398000														24			25		0	0	0.002780	0	0
FAT4	79633	broad.mit.edu	37	4	126373578	126373578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:126373578C>T	uc003ifj.4	+	8	11407	c.11407C>T	c.(11407-11409)Cat>Tat	p.H3803Y	FAT4_uc011cgp.2_Missense_Mutation_p.H2101Y|FAT4_uc003ifi.1_Missense_Mutation_p.H1281Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3803	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H3803Y(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTGTGGATCATGACTCCTG	0.483000														32			23		0	0	0.014323	0	0
LARP4	113251	broad.mit.edu	37	12	50867196	50867196	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:50867196A>G	uc001rwp.2	+	14	1748	c.1546_splice	c.e14-2	p.D516_splice	LARP4_uc001rwq.2_Splice_Site_p.D445_splice|LARP4_uc001rwt.2_Splice_Site_p.D374_splice|LARP4_uc001rws.2_Splice_Site_p.D515_splice|LARP4_uc001rwr.2_Splice_Site_p.D445_splice|LARP4_uc021qxv.1_Splice_Site_p.D446_splice|LARP4_uc009zlr.1_Splice_Site_p.D335_splice	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	516							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTTTACTTTAAGGATAATGAA	0.373000														5			19		0	0	0.007413	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086326	41086326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:41086326C>T	uc002oob.3	+	6	546	c.497C>T	c.(496-498)cCc>cTc	p.P166L	SHKBP1_uc002ooc.3_Missense_Mutation_p.P166L|SHKBP1_uc010xvl.1_Missense_Mutation_p.P89L|SHKBP1_uc002ooe.3_Missense_Mutation_p.P3L|SHKBP1_uc010xvm.2_Missense_Mutation_p.P3L|SHKBP1_uc010xvn.2_Missense_Mutation_p.P44L	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGATGCCCCCCAACCTTGGC	0.627000														45			12		0	0	0.010729	0	0
ISL1	3670	broad.mit.edu	37	5	50687119	50687119	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:50687119G>A	uc003jor.3	+	4	1325	c.777G>A	c.(775-777)ggG>ggA	p.G259G		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	259	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ATATCCAGGGGATGACAGGAA	0.517000														23			15		0	0	0.004990	0	0
LGALS9	3965	broad.mit.edu	37	17	25974412	25974412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:25974412G>A	uc002gzp.3	+	9	993	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	LGALS9_uc002gzq.3_Missense_Mutation_p.R260Q|LGALS9_uc002gzr.3_Missense_Mutation_p.R203Q|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	292	Beta-galactoside binding 2 (By similarity).|Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TCTGAGGAGCGAAGTCTGCCC	0.597000														21			15		0	0	0.003163	0	0
SMG1	23049	broad.mit.edu	37	16	18908210	18908210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:18908210G>A	uc002dfm.3	-	1	524	c.161C>T	c.(160-162)tCc>tTc	p.S54F	SMG1_uc010bwb.3_5'UTR	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	54	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCATAAGAGGAAGAACCACC	0.403000														11			10		0	0	0.010729	0	0
EXPH5	23086	broad.mit.edu	37	11	108383806	108383806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:108383806G>A	uc001pkk.3	-	5	2539	c.2428C>T	c.(2428-2430)Ctt>Ttt	p.L810F	EXPH5_uc010rvz.2_Missense_Mutation_p.L654F|EXPH5_uc010rvy.2_Missense_Mutation_p.L622F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	810					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGAAAGGAAGGGAAGCTGTT	0.378000														74			53		0	0	0.014410	0	0
NPHS1	4868	broad.mit.edu	37	19	36333452	36333452	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:36333452C>T	uc002oby.3	-	18	2491	c.2335_splice	c.e18-1	p.G779_splice		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	779	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.G779*(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCATCTTCTCCCTGGAGGCCC	0.572000														97			24		0	0	0.014323	0	0
FAM123B	139285	broad.mit.edu	37	X	63410355	63410355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:63410355C>T	uc022byb.1	-	0	2812	c.2812G>A	c.(2812-2814)Gga>Aga	p.G938R	FAM123B_uc004dvo.3_Missense_Mutation_p.G938R	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	938	Poly-Glu.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CTCCATTCTCCTTCTTCCTCC	0.587000														26			33		0	0	0.004289	0	0
CLK2	1196	broad.mit.edu	37	1	155239385	155239385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155239385G>A	uc001fjy.3	-	2	583	c.293C>T	c.(292-294)tCc>tTc	p.S98F	CLK2_uc001fjw.3_Missense_Mutation_p.S98F|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Missense_Mutation_p.S98F	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	98						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATATTCATAGGAATGCCGATA	0.587000								Other conserved DNA damage response genes						91			123		0	0	0.014410	0	0
HBBP1	3044	broad.mit.edu	37	11	5264433	5264433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:5264433C>T	uc001mag.3	-	1	269	c.53G>A	c.(52-54)gGa>gAa	p.G18E						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		AACAGCTTTTCCGAAGGAGAT	0.493000														15			15		0	0	0.004990	0	0
WBP11	51729	broad.mit.edu	37	12	14943565	14943565	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:14943565G>A	uc001rci.3	-	9	1295	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	378					RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CATCAGAATGGGATTCCTCTT	0.498000														31			23		0	0	0.002780	0	0
JPH3	57338	broad.mit.edu	37	16	87717753	87717753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:87717753C>T	uc002fkd.3	+	2	1420	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	389	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.T388T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCCAGGACCTCCCACTCTCGG	0.662000														14			12		0	0	0.001855	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291413	141291413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:141291413C>T	uc022cfj.1	-	0	361	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	MAGEC2_uc004fbu.2_Missense_Mutation_p.G121R	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	121						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCCTCCCCTTTCTGGCTG	0.547000										HNSCC(46;0.14)				55			25		0	0	0.007291	0	0
TCRA	0	broad.mit.edu	37	14	22970647	22970647	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22970647C>T	uc001wev.3	+	1	59	c.43_splice	c.e1+1	p.H15_splice	TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001weh.1_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc021rqd.1_Splice_Site|ADV21S1A1N_uc021rqe.1_5'Flank|TCRA_uc021rqf.1_5'Flank|TCRA_uc010tmv.2_5'Flank					SubName: Full=TRA@ protein;																		GGTCAAACCCCGTGAGTATCT	0.408000														33			19		0	0	0.007413	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764768	77764768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:77764768G>A	uc003yau.2	+	9	5998	c.5611G>A	c.(5611-5613)Gaa>Aaa	p.E1871K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E1826K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1826						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCAAAGCAGGAATTTATAAG	0.433000										HNSCC(33;0.089)				5			7		0	0	0.010729	0	0
FAM163A	148753	broad.mit.edu	37	1	179783102	179783102	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:179783102C>T	uc009wxj.3	+	5	741	c.282C>T	c.(280-282)caC>caT	p.H94H	FAM163A_uc001gnj.3_Silent_p.H94H|FAM163A_uc009wxk.3_Silent_p.H94H	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	94						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CCGCGAGCCACTGCACTACCT	0.657000														26			38		0	0	0.014410	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991400	52991400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:52991400G>A	uc001cty.2	-	1	806	c.553C>T	c.(553-555)Cca>Tca	p.P185S	ZCCHC11_uc001ctx.2_Missense_Mutation_p.P185S|ZCCHC11_uc009vze.1_Missense_Mutation_p.P185S|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.3_Missense_Mutation_p.P185S|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.P185S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	185					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAGGAGCTTGGAATTTTTTTT	0.408000														110			62		0	0	0.014410	0	0
MET	4233	broad.mit.edu	37	7	116436101	116436101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:116436101C>T	uc003vij.3	+	20	4283	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	MET_uc010lkh.3_Missense_Mutation_p.P1384S|MET_uc011knj.2_Missense_Mutation_p.P936S	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1366	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTCCGTATCCTTCTCTGTT	0.468000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					80			54		0	0	0.014410	0	0
WDR45L	56270	broad.mit.edu	37	17	80579641	80579641	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:80579641G>A	uc002kfq.3	-	5	657	c.462C>T	c.(460-462)tcC>tcT	p.S154S	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	154					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			AGGCCAGGAGGGAGTTGTTAC	0.572000														17			5		0	0	0.001984	0	0
OR4C6	219432	broad.mit.edu	37	11	55433566	55433566	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:55433566G>A	uc010rik.2	+	0	924	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTTTGGCTGGGAAATAACTGC	0.423000														14			10		0	0	0.006214	0	0
UBXN10	127733	broad.mit.edu	37	1	20517684	20517684	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:20517684G>A	uc001bdb.3	+	1	714	c.630G>A	c.(628-630)agG>agA	p.R210R	UBXN10_uc021oia.1_Silent_p.R210R	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	210	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAGGCCAAAGGTTTGTACGCC	0.488000														49			35		0	0	0.006230	0	0
CGNL1	84952	broad.mit.edu	37	15	57731076	57731076	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:57731076C>T	uc010bfw.3	+	2	1072	c.879C>T	c.(877-879)tcC>tcT	p.S293S	CGNL1_uc002aeg.3_Silent_p.S293S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	293	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCTCGGTCCCGGAGGTCCT	0.562000														10			15		0	0	0.004990	0	0
LRP6	4040	broad.mit.edu	37	12	12311842	12311842	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:12311842G>A	uc001rah.4	-	11	2854	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.C904C	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	904	EGF-like 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCACAGCCAAGCAGAGGTGGG	0.507000														307			171		0	0	0.014410	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776907	18776907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:18776907G>A	uc003zne.4	+	18	2832	c.2680G>A	c.(2680-2682)Gcg>Acg	p.A894T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	894	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCCAAGACGGCGGTGGTGCT	0.682000														0			14		0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141773412	141773412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:141773412C>T	uc002tvj.1	-	12	3015	c.2043G>A	c.(2041-2043)atG>atA	p.M681I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	681					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAATCCATCCATCCAGGCCT	0.418000										TSP Lung(27;0.18)				37			19		0	0	0.014323	0	0
PRLR	5618	broad.mit.edu	37	5	35065416	35065416	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:35065416C>T	uc003jjm.3	-	9	2203	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.K447K|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	548					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCCCGGACACCTTGGCATACT	0.493000														26			35		0	0	0.003755	0	0
DHX58	79132	broad.mit.edu	37	17	40260089	40260089	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:40260089T>A	uc002hyw.3	-	6	939	c.716A>T	c.(715-717)cAa>cTa	p.Q239L	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.Q232L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	239					innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTCATGGATTTGGTCCATGAG	0.562000														54			39		0	0	0.009718	0	0
PPFIA4	8497	broad.mit.edu	37	1	203020942	203020942	+	Silent	SNP	A	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:203020942A>T	uc009xaj.3	+	17	2010	c.2010A>T	c.(2008-2010)acA>acT	p.T670T	PPFIA4_uc010pqf.2_Silent_p.T226T|PPFIA4_uc001gyz.3_Silent_p.T13T|PPFIA4_uc001gza.3_Silent_p.T13T			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	13					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCTGGGCACAACCACACACG	0.637000														18			15		0	0	0.004007	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887961	30887961	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:30887961C>T	uc003aid.2	-	10	872	c.772_splice	c.e10-1	p.I258_splice	SEC14L4_uc011akz.1_Splice_Site_p.I258_splice|SEC14L4_uc003aie.2_Splice_Site_p.I243_splice|SEC14L4_uc003aif.2_Splice_Site_p.I204_splice	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	258	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CATAGTTGATCTGTGGGTGAA	0.617000														35			24		0	0	0.005443	0	0
CD163	9332	broad.mit.edu	37	12	7640090	7640090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:7640090C>T	uc001qsz.3	-	7	2043	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	CD163_uc001qta.3_Missense_Mutation_p.G639R|CD163_uc009zfw.2_Missense_Mutation_p.G672R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	639	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTCCTTTTCCAAAACGTGCT	0.483000														73			38		0	0	0.009718	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862791	9862791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:9862791C>T	uc010uym.2	-	12	2822	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	GRIN2A_uc002czo.4_Missense_Mutation_p.E838K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E681K|GRIN2A_uc002czr.4_Missense_Mutation_p.E838K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	838					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGAGGTGCTCCCAGATGAAG	0.592000														30			27		0	0	0.003954	0	0
LRRC42	115353	broad.mit.edu	37	1	54418140	54418140	+	Silent	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:54418140A>G	uc001cwj.1	+	1	668	c.468A>G	c.(466-468)cgA>cgG	p.R156R	LRRC42_uc001cwk.1_Silent_p.R156R	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	156										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTGTTTGCGAAACAGGTGGG	0.478000														30			15		0	0	0.003163	0	0
NOVA1	4857	broad.mit.edu	37	14	26918122	26918122	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:26918122C>T	uc001wqa.3	-	5	987	c.201G>A	c.(199-201)aaG>aaA	p.K67K	NOVA1_uc001wpy.3_Silent_p.K189K|NOVA1_uc001wpz.3_Silent_p.K165K	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	192	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAGCACCTCCCTTCCCTATTA	0.423000														59			38		0	0	0.010771	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770964	145770964	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:145770964G>A	uc003zds.1	-	6	2745	c.2190C>T	c.(2188-2190)ccC>ccT	p.P730P	ARHGAP39_uc011llk.1_Silent_p.P730P|ARHGAP39_uc003zdt.1_Silent_p.P730P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	730	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCACGATCATGGGCTTCTTGA	0.617000														36			44		0	0	0.008740	0	0
ATF6B	1388	broad.mit.edu	37	6	32085370	32085370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:32085370G>A	uc003nzn.3	-	12	1559	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Missense_Mutation_p.S82F|ATF6B_uc003nzo.3_Missense_Mutation_p.S506F|ATF6B_uc003nzp.1_Missense_Mutation_p.S198F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	509					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ACACCTCAGGGACTCAGTGCG	0.602000														96			118		0	0	0.014410	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406235	39406235	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:39406235C>A	uc002hwi.3	+	0	297	c.263C>A	c.(262-264)tCc>tAc	p.S88Y		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	88	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.G87R(2)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGTGGGTCCAGCTGTGAC	0.597000														68			45		6.57855e-14	6.88924e-14	0.009718	1	0
GPR141	353345	broad.mit.edu	37	7	37780780	37780780	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:37780780T>C	uc003tfm.1	+	0	785	c.785T>C	c.(784-786)gTt>gCt	p.V262A	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACAGCAAGGTTGCATTTTAT	0.378000														51			42		0	0	0.008740	0	0
FAM71F1	84691	broad.mit.edu	37	7	128356957	128356957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:128356957C>T	uc003vno.1	+	1	393	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	FAM71F1_uc010llo.1_Missense_Mutation_p.P15S|FAM71F1_uc011koq.1_Missense_Mutation_p.P38L|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.P35L|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Missense_Mutation_p.P114S	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	114										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCCCCTCCCCAACATCCT	0.567000														19			18		0	0	0.006122	0	0
KCND2	3751	broad.mit.edu	37	7	119914791	119914791	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:119914791G>A	uc003vjj.1	+	0	1070	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	35					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGCAGGAGAGGAAAAGGACCC	0.637000														149			80		0	0	0.014410	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:53303922G>A	uc002qad.3	-	3	1333	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000														107			27		0	0	0.003954	0	0
RASEF	158158	broad.mit.edu	37	9	85607903	85607903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:85607903C>T	uc004amo.1	-	14	2219	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	653					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGCCTTGTTTCCTACCAGCAT	0.483000														8			39		0	0	0.004289	0	0
FAM22G	441457	broad.mit.edu	37	9	99691310	99691310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:99691310G>A	uc022bkp.1	+	0	25	c.4G>A	c.(4-6)Gct>Act	p.A2T	FAM22G_uc004awq.2_Missense_Mutation_p.A2T	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	2										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				TGAGGGGATGGCTTCAAATGG	0.537000														20			51		0	0	0.014410	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432890	111432890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:111432890C>T	uc003dya.3	+	2	1351	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	PLCXD2_uc003dxz.3_Missense_Mutation_p.H261Y	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGGCTCCTTCCATGTCTCCCA	0.557000														28			18		0	0	0.008871	0	0
TAL1	6886	broad.mit.edu	37	1	47685844	47685844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:47685844G>A	uc001cqx.2	-	3	1121	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.P182S	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	182					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TTGGTGTGGGGACCTGGAGAT	0.552000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									13			11		0	0	0.010729	0	0
LCMT1	51451	broad.mit.edu	37	16	25172473	25172473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:25172473C>T	uc002dnx.1	+	5	675	c.517C>T	c.(517-519)Cga>Tga	p.R173*	LCMT1_uc002dny.1_Intron	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	173							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGCAGATCTCCGAGACCTGTC	0.348000														7			5		0	0	0.000602	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098186	13098186	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:13098186C>T	uc002wod.1	+	7	1255	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	322					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGCCCCAGATCATAGCTCTAA	0.507000														115			64		0	0	0.014410	0	0
BRDT	676	broad.mit.edu	37	1	92446853	92446853	+	Silent	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:92446853A>G	uc001dol.4	+	11	2197	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	BRDT_uc010osz.2_Silent_p.E597E|BRDT_uc001dok.4_Silent_p.E593E|BRDT_uc009wdf.3_Silent_p.E520E|BRDT_uc010otb.2_Silent_p.E547E|BRDT_uc010ota.2_Silent_p.E547E|BRDT_uc001dom.4_Silent_p.E593E	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.E592Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CCAAAGAAGAACTTCACTCAC	0.328000														29			21		0	0	0.012319	0	0
CNGA2	1260	broad.mit.edu	37	X	150912755	150912755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:150912755G>A	uc004fey.1	+	6	2004	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	594					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AACCAGCATGGAGGTCGACGT	0.577000														100			54		0	0	0.014410	0	0
TECTA	7007	broad.mit.edu	37	11	121008491	121008491	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:121008491C>T	uc010rzo.2	+	9	3303	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1101	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTCCTGCATCGTCTCAGGCT	0.587000														24			22		0	0	0.010504	0	0
UROC1	131669	broad.mit.edu	37	3	126220660	126220660	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:126220660A>G	uc010hsi.2	-	9	1088	c.1034T>C	c.(1033-1035)tTc>tCc	p.F345S	UROC1_uc003eiz.2_Intron	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGCCTGGAGAAGCCCGAGGG	0.587000														48			26		0	0	0.008361	0	0
ADH4	127	broad.mit.edu	37	4	100057678	100057678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:100057678C>T	uc003hun.3	-	4	597	c.521G>A	c.(520-522)aGa>aAa	p.R174K	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.R193K	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	174					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAGACAAACTCTCTCTAAATT	0.388000														41			24		0	0	0.004656	0	0
DNAH2	146754	broad.mit.edu	37	17	7663240	7663240	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:7663240C>T	uc002giu.1	+	15	2783	c.2769C>T	c.(2767-2769)ccC>ccT	p.P923P		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	923	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGTGAACCCATCCAAACAG	0.562000														117			77		0	0	0.014410	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81066066	81066066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:81066066C>T	uc001kaf.2	+	21	3205	c.2633C>T	c.(2632-2634)cCa>cTa	p.P878L	ZMIZ1_uc001kag.2_Missense_Mutation_p.P754L|ZMIZ1_uc010qlq.1_Missense_Mutation_p.P31L	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	878	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGCCTCCCCCAGGGGGCACC	0.642000														7			32		0	0	0.009535	0	0
TRPC4	7223	broad.mit.edu	37	13	38266349	38266349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:38266349G>A	uc010abx.3	-	3	1256	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.P341S|TRPC4_uc001uws.3_Missense_Mutation_p.P341S|TRPC4_uc010tey.2_Missense_Mutation_p.P341S|TRPC4_uc010abw.3_Missense_Mutation_p.P168S|TRPC4_uc010aby.3_Missense_Mutation_p.P341S	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGAAGACAGGAAAAAGAAGT	0.473000														21			12		0	0	0.013537	0	0
FAM118A	55007	broad.mit.edu	37	22	45719147	45719147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:45719147C>T	uc003bfz.4	+	3	755	c.139C>T	c.(139-141)Cct>Tct	p.P47S	FAM118A_uc003bga.4_Missense_Mutation_p.P47S	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	47						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCCGGAATCCCTGCCCTTTG	0.597000														29			17		0	0	0.004990	0	0
TMEM108	66000	broad.mit.edu	37	3	133099648	133099648	+	Missense_Mutation	SNP	G	A	A	rs79118437		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:133099648G>A	uc003epi.3	+	3	1363	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	TMEM108_uc003eph.3_Missense_Mutation_p.D365N|TMEM108_uc003epj.1_Missense_Mutation_p.D365N|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	365						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCTGCCTTCGATACCAGTGT	0.592000														31			27		0	0	0.006320	0	0
OR11L1	391189	broad.mit.edu	37	1	248004495	248004495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:248004495C>T	uc001idn.1	-	0	704	c.704G>A	c.(703-705)aGa>aAa	p.R235K		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAAGGTCTTTCTCCGGCCAGA	0.507000														49			29		0	0	0.007291	0	0
FAM75A2	642265	broad.mit.edu	37	9	39888169	39888169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:39888169G>A	uc004abp.3	+	3	1185	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	386						integral to membrane		p.M385I(1)		lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGGAACATGGGAGAGAACTC	0.473000														34			83		0	0	0.014410	0	0
LRFN1	57622	broad.mit.edu	37	19	39804582	39804582	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:39804582G>A	uc002okw.2	-	0	1395	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	465	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTAGACGAGGGAGTCATCAA	0.632000														80			9		0	0	0.006214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					7			51		0	0	0.014410	0	0
OR1E1	8387	broad.mit.edu	37	17	3301279	3301279	+	Silent	SNP	G	A	A	rs144699002		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:3301279G>A	uc002fvj.1	-	0	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CCACCAGGGCGAGACAGAGCA	0.572000											OREG0007321	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		31			19		0	0	0.014323	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480495	140480495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140480495G>A	uc003lio.3	+	0	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGAATGAGAAATTGGA	0.488000														57			39		0	0	0.006999	0	0
FGD5	152273	broad.mit.edu	37	3	14905670	14905670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:14905670C>T	uc003bzc.3	+	1	2671	c.2561C>T	c.(2560-2562)tCg>tTg	p.S854L	FGD5_uc011avk.2_Missense_Mutation_p.S854L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	854					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGTCCCATCTCGTCGGCAGCC	0.532000														48			24		0	0	0.014323	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679273	37679273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:37679273C>T	uc001uwm.1	-	0	529	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	41	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G40G(1)|p.G40S(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTACGTCCTCGCCGTTGGTG	0.537000														44			27		0	0	0.005443	0	0
ZNF839	55778	broad.mit.edu	37	14	102792356	102792356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:102792356G>A	uc010awk.1	+	1	330	c.323G>A	c.(322-324)gGa>gAa	p.G108E	ZNF839_uc001ylo.2_5'UTR|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_5'UTR|ZNF839_uc001ylr.2_5'UTR	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	0	Poly-Ser.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTAACGTCTGGAGAAACAAAA	0.478000														13			13		0	0	0.013537	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325507	37325507	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:37325507G>A	uc003aqa.4	+	4	672	c.455G>A	c.(454-456)tGg>tAg	p.W152*	CSF2RB_uc003aqc.4_Nonsense_Mutation_p.W152*	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	152	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTGCTGACCTGGAGTGTGGCC	0.617000														51			51		0	0	0.014410	0	0
FAT2	2196	broad.mit.edu	37	5	150947900	150947900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:150947900G>A	uc003lue.4	-	0	606	c.593C>T	c.(592-594)cCc>cTc	p.P198L	FAT2_uc010jhx.1_Missense_Mutation_p.P198L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	198	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGCTGGTGGGATGGATGGC	0.532000														50			34		0	0	0.003271	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563824	50563824	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:50563824C>T	uc003bjj.3	+	10	1656	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	MOV10L1_uc003bjk.4_Silent_p.L525L|MOV10L1_uc011arp.2_Silent_p.L505L|MOV10L1_uc011arq.1_Silent_p.L286L|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	525					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.L525L(2)|p.L505L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCCAGCTTCTGAACATGTC	0.438000														32			21		0	0	0.010504	0	0
OR52L1	338751	broad.mit.edu	37	11	6007845	6007845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:6007845G>A	uc001mcd.2	-	0	371	c.316C>T	c.(316-318)Cat>Tat	p.H106Y		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F106F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGTGGGCATGAACCAGGAGC	0.547000														14			14		0	0	0.004007	0	0
BMP7	655	broad.mit.edu	37	20	55777679	55777679	+	Splice_Site	SNP	C	T	T	rs142693632		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:55777679C>T	uc010gip.1	-	3	1141	c.612_splice	c.e3-1	p.R204_splice	BMP7_uc002xyc.3_Splice_Site_p.R204_splice	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	204					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GATCCGATTCCCTGCGAGAGA	0.622000														27			20		0	0	0.008871	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618462	175618462	+	Missense_Mutation	SNP	C	T	T	rs145421881		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:175618462C>T	uc002ujd.2	-	6	700	c.622G>A	c.(622-624)Gac>Aac	p.D208N	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.D183N|CHRNA1_uc002ujf.4_Missense_Mutation_p.D183N	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	208					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCTGGCTGGTCGCTTTCCTGA	0.572000														12			7		0	0	0.003080	0	0
CDH19	28513	broad.mit.edu	37	18	64172126	64172126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:64172126C>T	uc002lkc.1	-	11	2380	c.2242G>A	c.(2242-2244)Gat>Aat	p.D748N	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	748					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTAAGGTAATCATAGCTTTCA	0.413000														25			20		0	0	0.007413	0	0
FRMD7	90167	broad.mit.edu	37	X	131216398	131216398	+	Missense_Mutation	SNP	G	A	A	rs139411571	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:131216398G>A	uc004ewn.3	-	8	1076	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	FRMD7_uc022cdy.1_Missense_Mutation_p.R180C|FRMD7_uc011muy.2_Missense_Mutation_p.R285C	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	300					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCTATAGCGGAAACTGGAA	0.438000														253			172		0	0	0.014410	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488820	20488820	+	RNA	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:20488820C>T	uc001ytf.1	+	1		c.303C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GAACCCCCACCTGCTTGGCTC	0.423000														87			15		0	0	0.003163	0	0
ARNT	405	broad.mit.edu	37	1	150812125	150812125	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:150812125T>C	uc001evr.2	-	5	479	c.278A>G	c.(277-279)aAt>aGt	p.N93S	ARNT_uc001evs.2_Missense_Mutation_p.N78S|ARNT_uc009wmd.2_Missense_Mutation_p.N78S|ARNT_uc009wmb.2_Missense_Mutation_p.N84S|ARNT_uc009wmc.2_Missense_Mutation_p.N93S|ARNT_uc009wme.2_Missense_Mutation_p.N93S|ARNT_uc010pcl.2_Missense_Mutation_p.N77S	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	93					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCACTGTGATTTTCCCTGCA	0.498000			T	ETV6	AML									6			21		0	0	0.010504	0	0
SENP1	29843	broad.mit.edu	37	12	48458952	48458952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:48458952G>A	uc001rqx.3	-	11	1617	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SENP1_uc001rqw.3_Missense_Mutation_p.R391C|SENP1_uc001rqy.3_Missense_Mutation_p.R192C|SENP1_uc001rqz.3_Missense_Mutation_p.R192C|SENP1_uc009zkx.3_Missense_Mutation_p.R391C	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	391					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AGAGGTACACGAAGATGTAGT	0.358000														16			11		0	0	0.008291	0	0
MYH11	4629	broad.mit.edu	37	16	15931898	15931898	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:15931898A>T	uc002ddx.3	-	1	319	c.212T>A	c.(211-213)gTt>gAt	p.V71D	MYH11_uc002ddv.3_Missense_Mutation_p.V71D|MYH11_uc002ddw.3_Missense_Mutation_p.V71D|MYH11_uc002ddy.3_Missense_Mutation_p.V71D|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.V71D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	71	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTTTCCCAACCGTGACCTT	0.572000			T	CBFB	AML									111			81		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38968362	38968362	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:38968362G>A	uc021wvy.1	-	3	748	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	183					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATCCAGAATGAAACCTCTTG	0.343000														59			33		0	0	0.009535	0	0
PCLO	27445	broad.mit.edu	37	7	82582113	82582113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:82582113C>T	uc003uhx.2	-	4	8445	c.8156G>A	c.(8155-8157)gGa>gAa	p.G2719E	PCLO_uc003uhv.2_Missense_Mutation_p.G2719E|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2650					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAATTTTCCATCTTCTTT	0.373000														14			15		0	0	0.003163	0	0
FAM83B	222584	broad.mit.edu	37	6	54804573	54804573	+	Silent	SNP	C	T	T	rs142915319	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:54804573C>T	uc003pck.3	+	4	920	c.804C>T	c.(802-804)tcC>tcT	p.S268S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	268										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGTTGAGTCCTTTGATGAAG	0.403000														38			31		0	0	0.003271	0	0
ASH1L	55870	broad.mit.edu	37	1	155450917	155450917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155450917G>A	uc009wqq.3	-	2	2224	c.1744C>T	c.(1744-1746)Cca>Tca	p.P582S	ASH1L_uc001fkt.3_Missense_Mutation_p.P582S|ASH1L_uc009wqr.1_Missense_Mutation_p.P582S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	582					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAAGTAATGGATTAGGAGCC	0.403000														56			21		0	0	0.008871	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	RNA	SNP	G	C	C	rs143919579	by1000genomes	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:132905792G>C	uc002tti.3	-	6		c.1099C>G			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.									p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443000														17			3		0	0	0.000602	0	0
MYOCD	93649	broad.mit.edu	37	17	12649307	12649307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:12649307C>T	uc002gno.2	+	8	1342	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	MYOCD_uc002gnn.2_Missense_Mutation_p.P348L|MYOCD_uc002gnp.1_Missense_Mutation_p.P252L|MYOCD_uc002gnq.2_Missense_Mutation_p.P67L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	348					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCTTGTCTCCTGTCAAAAAC	0.428000														58			63		0	0	0.014410	0	0
VWA5A	4013	broad.mit.edu	37	11	124012361	124012361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124012361G>A	uc001pzu.3	+	15	2145	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	VWA5A_uc001pzt.3_Missense_Mutation_p.E646K	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	646										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCCCAGAGGGGAACTTATGTG	0.473000														49			24		0	0	0.004656	0	0
DNAH1	25981	broad.mit.edu	37	3	52428618	52428618	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:52428618C>T	uc011bef.2	+	66	11025	c.10764C>T	c.(10762-10764)tcC>tcT	p.S3588S	DNAH1_uc003ddv.3_Silent_p.S446S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3653					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTTCTCTTCCGACTTCGTGA	0.577000														27			14		0	0	0.001855	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340161	29340161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:29340161G>A	uc002kxa.2	-	0	683	c.464C>T	c.(463-465)aCc>aTc	p.T155I		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	155					transport	integral to membrane|mitochondrial inner membrane											ATAAGTGTTGGTAAATTTGTC	0.463000														56			47		0	0	0.011902	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570536	47570536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:47570536G>A	uc002pga.4	-	14	3027	c.2989C>T	c.(2989-2991)Ccc>Tcc	p.P997S	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	997							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGCACGGGGGGCACTGCG	0.736000														138			35		0	0	0.003755	0	0
OR14A16	284532	broad.mit.edu	37	1	247978792	247978792	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:247978792G>A	uc001idm.1	-	0	240	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I80I(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGAATTGGCGATAGATTTGG	0.443000														26			28		0	0	0.004656	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752390	15752390	+	Silent	SNP	G	A	A	rs150573744	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:15752390G>A	uc010xok.2	+	1	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F3_uc010xol.2_Silent_p.P55P|CYP4F3_uc002nbj.3_Silent_p.P55P|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.P55P	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	55					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCAACCCCCGAAACGGAATT	0.617000														41			29		0	0	0.009535	0	0
AICDA	57379	broad.mit.edu	37	12	8757440	8757440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:8757440G>A	uc001qur.2	-	3	585	c.506C>T	c.(505-507)tCa>tTa	p.S169L	AICDA_uc001qup.1_Missense_Mutation_p.S154L|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	169					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GAGACGAACTGAATTTTCATG	0.378000														91			69		0	0	0.014410	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23952324	23952324	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:23952324G>A	uc003ccj.3	-	2	474	c.72C>T	c.(70-72)ctC>ctT	p.L24L	NKIRAS1_uc003cck.3_Silent_p.L24L	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	24					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TTCCATAAAGGAGCTGCTCCA	0.418000														12			11		0	0	0.008291	0	0
FCRL4	83417	broad.mit.edu	37	1	157567718	157567718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:157567718G>A	uc001fqw.3	-	0	153	c.17C>T	c.(16-18)tCc>tTc	p.S6F	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	6						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGCCAGCAAGGACGCCCACAG	0.547000														16			20		0	0	0.012319	0	0
CTCFL	140690	broad.mit.edu	37	20	56094368	56094368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:56094368G>A	uc010giw.1	-	3	931	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	CTCFL_uc010gix.1_Missense_Mutation_p.R274C|CTCFL_uc002xym.2_Missense_Mutation_p.R274C|CTCFL_uc010gjb.1_Missense_Mutation_p.R274C|CTCFL_uc010gja.1_Missense_Mutation_p.R274C|CTCFL_uc010gjc.1_Missense_Mutation_p.R274C|CTCFL_uc010gjd.1_Missense_Mutation_p.R274C|CTCFL_uc010gje.3_Missense_Mutation_p.R274C|CTCFL_uc010gjg.3_Missense_Mutation_p.R6C|CTCFL_uc010gjf.3_Missense_Mutation_p.R69C|CTCFL_uc010gjh.2_Missense_Mutation_p.R274C|CTCFL_uc010gji.2_Missense_Mutation_p.R69C|CTCFL_uc010gjj.2_Missense_Mutation_p.R274C|CTCFL_uc021wfe.1_Missense_Mutation_p.R274C|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R6C|CTCFL_uc010gjk.1_Missense_Mutation_p.R274C|CTCFL_uc010gjl.1_Missense_Mutation_p.R274C	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	274					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCATATGACGATTAAAACTT	0.443000														60			28		0	0	0.006320	0	0
F8	2157	broad.mit.edu	37	X	154215554	154215554	+	Missense_Mutation	SNP	T	A	A	rs5987076		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:154215554T>A	uc004fmt.3	-	4	799	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	210	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGTGCAAGGTCTGTGTCTTT	0.343000														27			19		0	0	0.008871	0	0
KCNK9	51305	broad.mit.edu	37	8	140630676	140630676	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:140630676G>T	uc003yvf.1	-	1	1014	c.950C>A	c.(949-951)tCc>tAc	p.S317Y	KCNK9_uc003yvg.1_Missense_Mutation_p.S317Y|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	317						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGCGCTGAAGGAGTTCTGCGG	0.592000														83			23		1.50039e-11	1.56803e-11	0.012319	1	0
DOCK1	1793	broad.mit.edu	37	10	129237477	129237477	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:129237477C>T	uc010qun.2	+	48	5311	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	DOCK1_uc001ljt.3_Silent_p.I1728I|DOCK1_uc009yaq.3_Silent_p.I723I	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1728					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGCTGTGATCCTTTCGGAAA	0.502000														2			4		0	0	0.000602	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227279642	227279642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:227279642C>T	uc001hqr.3	-	15	3243	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	CDC42BPA_uc001hqq.3_Missense_Mutation_p.R31Q|CDC42BPA_uc001hqs.3_Missense_Mutation_p.R686Q|CDC42BPA_uc009xes.3_Missense_Mutation_p.R767Q|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R767Q	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	767					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CACTTTTTCTCGTTCATATTG	0.323000														16			19		0	0	0.002780	0	0
GRPR	2925	broad.mit.edu	37	X	16170679	16170679	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:16170679A>G	uc004cxj.3	+	2	1719	c.1066A>G	c.(1066-1068)Acc>Gcc	p.T356A		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	356					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AAGGAGTACAACCTGCATGAC	0.527000														100			157		0	0	0.014410	0	0
EPCAM	4072	broad.mit.edu	37	2	47606944	47606944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:47606944G>A	uc002rvx.3	+	6	1052	c.694G>A	c.(694-696)Gac>Aac	p.D232N		NM_002354	NP_002345	P16422	EPCAM_HUMAN	Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.	232					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TAAGAAAATGGACCTGACAGT	0.343000														36			23		0	0	0.003954	0	0
TXN2	25828	broad.mit.edu	37	22	36863860	36863860	+	Silent	SNP	C	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:36863860C>A	uc003apk.1	-	3	569	c.492G>T	c.(490-492)ctG>ctT	p.L164L	TXN2_uc003apl.1_Non-coding_Transcript	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	164	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GTCAGCCAATCAGCTTCTTCA	0.587000														28			31		2.20262e-25	2.32575e-25	0.013726	1	0
GEM	2669	broad.mit.edu	37	8	95262655	95262655	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:95262655C>T	uc003ygi.3	-	4	898	c.774G>A	c.(772-774)agG>agA	p.R258R	GEM_uc003ygj.3_Silent_p.R258R	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	258					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCTCTCCTTCCTTTTCTGGT	0.552000														40			26		0	0	0.003954	0	0
LRRC32	2615	broad.mit.edu	37	11	76372239	76372239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:76372239C>T	uc001oxq.4	-	2	641	c.398G>A	c.(397-399)gGg>gAg	p.G133E	LRRC32_uc001oxr.4_Missense_Mutation_p.G133E|LRRC32_uc010rsf.2_Missense_Mutation_p.G133E	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	133						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGCTGTTCCCAGACAGGTC	0.687000														35			25		0	0	0.006320	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997405	19997405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:19997405C>T	uc002ktv.1	-	0	474	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	124						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATTTCTCTTCTTTTAACTCT	0.378000														84			58		0	0	0.014410	0	0
NOL4	8715	broad.mit.edu	37	18	31537311	31537311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:31537311C>T	uc010dmi.3	-	7	1705	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	NOL4_uc010xbs.2_Missense_Mutation_p.M184I|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.M395I|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	469						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACTTCTTTTCATCCGCCTGC	0.423000														44			26		0	0	0.009535	0	0
ODZ1	10178	broad.mit.edu	37	X	123657415	123657415	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:123657415G>A	uc010nqy.3	-	16	2896	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	ODZ1_uc011muj.2_Silent_p.F943F|ODZ1_uc004euj.3_Silent_p.F944F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	944					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.S944S(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCTCAGGCAGGAAAGGGGATC	0.458000														28			31		0	0	0.008361	0	0
WNT5B	81029	broad.mit.edu	37	12	1749083	1749083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:1749083G>A	uc009zdq.3	+	3	804	c.562G>A	c.(562-564)Gga>Aga	p.G188R	WNT5B_uc001qjj.3_Missense_Mutation_p.G188R|WNT5B_uc001qjk.3_Missense_Mutation_p.G188R|WNT5B_uc001qjl.3_Missense_Mutation_p.G188R	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	188					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CTTTGCCAAAGGATCAGAGGA	0.632000														23			11		0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857021	9857021	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:9857021G>A	uc010uym.2	-	13	4690	c.4380C>T	c.(4378-4380)atC>atT	p.I1460I	GRIN2A_uc002czo.4_Silent_p.I1460I|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1460					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATCAGATTCGATACTAGGCA	0.363000														24			9		0	0	0.004482	0	0
HHIP	64399	broad.mit.edu	37	4	145636452	145636452	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:145636452G>A	uc003ijs.2	+	10	2228	c.1548_splice	c.e10-1	p.G516_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	516						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTGTTGTAGGAATTTCCTAA	0.373000														23			17		0	0	0.006122	0	0
TRPC5	7224	broad.mit.edu	37	X	111090435	111090435	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:111090435T>C	uc004epl.1	-	5	2526	c.1607A>G	c.(1606-1608)aAc>aGc	p.N536S	TRPC5_uc004epm.1_Missense_Mutation_p.N536S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	536					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTAAAGCTGGTTCAGTCCATT	0.448000														78			54		0	0	0.014410	0	0
GABRE	2564	broad.mit.edu	37	X	151123444	151123445	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:151123444_151123445CC>TT	uc004ffi.3	-	8	1303_1304	c.1249_1250GG>AA	c.(1249-1251)gga>AAa	p.G417K	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTCCTCTCCATCACTTCCC	0.644000														9			8		0	0	0.004672	0	0
SPINT1	6692	broad.mit.edu	37	15	41146839	41146840	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:41146839_41146840AC>TT	uc001zna.3	+	7	1321_1322	c.1117_1118AC>TT	c.(1117-1119)acg>TTg	p.T373L	SPINT1_uc001znb.3_Missense_Mutation_p.T357L|SPINT1_uc001znc.3_Missense_Mutation_p.T357L|SPINT1_uc010ucs.2_Missense_Mutation_p.T364L	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	373						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTGCAGACACGAGTGGCTTT	0.604000														43			32		0	0	0.004672	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64508805	64508805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:64508805G>A	uc002anf.3	-	4	880	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R134*|CSNK1G1_uc002anh.1_Nonsense_Mutation_p.R134*|CSNK1G1_uc002anj.3_Nonsense_Mutation_p.R107*	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	134	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GTAAATGTTCGGTCACAGAGG	0.463000														23			17		0	0	0.004990	0	0
TRPV6	55503	broad.mit.edu	37	7	142575028	142575028	+	Silent	SNP	C	T	T	rs145023704		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:142575028C>T	uc003wbx.2	-	3	583	c.354G>A	c.(352-354)caG>caA	p.Q118Q	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	118					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGTGCAGTCTGACCTGGCC	0.622000														6			51		0	0	0.014410	0	0
EP300	2033	broad.mit.edu	37	22	41551054	41551054	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:41551054C>T	uc003azl.4	+	16	3593	c.3198C>T	c.(3196-3198)taC>taT	p.Y1066Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1066					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCACTTTACCGTCAGGATC	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					117			81		0	0	0.014410	0	0
PDE9A	5152	broad.mit.edu	37	21	44151975	44151975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:44151975G>A	uc002zbm.3	+	4	421	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Intron|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Intron|PDE9A_uc002zca.3_Missense_Mutation_p.E79K|PDE9A_uc002zcb.3_Missense_Mutation_p.E94K|PDE9A_uc002zcc.3_Intron|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Missense_Mutation_p.E53K|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	120					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCCCGGAGGGAAGGAGCATT	0.622000														39			19		0	0	0.008871	0	0
SYT4	6860	broad.mit.edu	37	18	40850433	40850433	+	Missense_Mutation	SNP	C	A	A	rs149020215	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:40850433C>A	uc002law.3	-	3	1520	c.1151G>T	c.(1150-1152)cGa>cTa	p.R384L	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.R366L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	384	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.R384Q(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TACCTCATTTCGGGACCCCCT	0.458000														54			41		1.30998e-17	1.37751e-17	0.005524	1	0
ABCA6	23460	broad.mit.edu	37	17	67109458	67109458	+	Missense_Mutation	SNP	G	A	A	rs34123357		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:67109458G>A	uc002jhw.1	-	14	2121	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	649	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTGATCTCTGGAAAAGGGATC	0.418000														14			18		0	0	0.007413	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209494	138209494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:138209494C>T	uc011cyz.1	-	1	1213	c.756G>A	c.(754-756)tgG>tgA	p.W252*	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Nonsense_Mutation_p.W118*|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	252						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTAAAGTGCCCCAGGTCCACT	0.423000														222			164		0	0	0.014410	0	0
CAPS2	84698	broad.mit.edu	37	12	75672694	75672694	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:75672694G>A	uc001sxl.3	-	16	1793	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	CAPS2_uc001sxm.3_Silent_p.I375I|CAPS2_uc009zsa.2_Silent_p.I197I|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Intron	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAGTACGTAAGATGTTAACAA	0.333000														22			22		0	0	0.010504	0	0
ADAM32	203102	broad.mit.edu	37	8	39027493	39027493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:39027493C>T	uc003xmt.4	+	9	1137	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ADAM32_uc011lch.2_Missense_Mutation_p.R305C|ADAM32_uc003xmu.4_Missense_Mutation_p.R298C	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	298	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R297S(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTGTATTACTCGTTATTCTGC	0.254000														38			18		0	0	0.003330	0	0
OR11H12	440153	broad.mit.edu	37	14	19378109	19378109	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:19378109G>A	uc010tkp.2	+	0	516	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGTTCCTGATCCCCATTG	0.478000														121			37		0	0	0.014410	0	0
TBX18	9096	broad.mit.edu	37	6	85446847	85446847	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:85446847C>T	uc003pkl.1	-	7	1380	c.1380G>A	c.(1378-1380)gtG>gtA	p.V460V	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	460					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCTGCTGCTCACGCCCACAT	0.577000														40			36		0	0	0.003755	0	0
AMOT	154796	broad.mit.edu	37	X	112022752	112022752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:112022752G>A	uc004epr.3	-	9	2648	c.2630C>T	c.(2629-2631)gCt>gTt	p.A877V	AMOT_uc004eps.3_Missense_Mutation_p.A468V|AMOT_uc011mtc.1_Missense_Mutation_p.A117V	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	877					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gggagcaacagctgcagTTTT	0.602000														20			22		0	0	0.012319	0	0
OBSCN	84033	broad.mit.edu	37	1	228494759	228494759	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:228494759G>A	uc009xez.1	+	44	12128	c.12084G>A	c.(12082-12084)caG>caA	p.Q4028Q	OBSCN_uc001hsn.3_Silent_p.Q4028Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4028	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGTGCAGGATGGTGCAG	0.642000														32			15		0	0	0.003163	0	0
VANGL2	57216	broad.mit.edu	37	1	160389254	160389254	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:160389254G>C	uc001fwb.2	+	4	954	c.655G>C	c.(655-657)Gcc>Ccc	p.A219P	VANGL2_uc001fwc.2_Missense_Mutation_p.A219P	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	219					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGCAGTTCGCCGTGTCGCT	0.622000														51			78		0	0	0.014410	0	0
HBG1	3047	broad.mit.edu	37	11	5275573	5275573	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:5275573C>T	uc001mai.1	-	1	701	c.264G>A	c.(262-264)caG>caA	p.Q88Q	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Silent_p.Q88Q	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	88					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	p.Q88R(2)		large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCACTCAGCTGGGCAAAGG	0.517000														98			42		0	0	0.011902	0	0
TEK	7010	broad.mit.edu	37	9	27212783	27212783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:27212783C>T	uc011lno.2	+	15	3078	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	TEK_uc003zqi.4_Missense_Mutation_p.T922M|TEK_uc011lnp.2_Missense_Mutation_p.T774M	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	922	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GTGCTGGAGACGGACCCAGCA	0.592000														3			13		0	0	0.001855	0	0
THSD7B	80731	broad.mit.edu	37	2	137917931	137917931	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:137917931G>A	uc002tva.1	+	4	1425	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G365G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCCTCAGGGGAAAAAAGGTG	0.468000														31			15		0	0	0.006122	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564905	47564905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:47564905G>A	uc001cqu.1	+	7	1019	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	339						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CATCAGCAGAGATGCCGAGAT	0.453000														24			24		0	0	0.003330	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358311	16358311	+	Missense_Mutation	SNP	A	G	G	rs139001368		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:16358311A>G	uc001axu.3	+	15	1809	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.T534A|CLCNKA_uc001axv.3_Missense_Mutation_p.T577A|CLCNKA_uc010oby.1_Intron|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	577	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CACAGACGTGACCGAGTATCC	0.607000														62			4		0	0	0.009096	0	0
RNF112	7732	broad.mit.edu	37	17	19319073	19319073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:19319073G>A	uc010vyw.2	+	13	1712	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	RNF112_uc021tsa.1_Non-coding_Transcript	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	494							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GACACCATGCGGAACCTCCTC	0.597000														27			17		0	0	0.004990	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202658	140202658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140202658C>T	uc003lhl.2	+	0	1298	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S433L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S433L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.637000														68			51		0	0	0.014410	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699655	153699655	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:153699655G>A	uc004flm.3	+	30	5537	c.5364G>A	c.(5362-5364)gtG>gtA	p.V1788V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1788					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAGCTGGGTGGAGAGGTGGG	0.657000														60			51		0	0	0.014410	0	0
NRK	203447	broad.mit.edu	37	X	105178249	105178249	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:105178249G>A	uc004emd.3	+	20	3616	c.3313_splice	c.e20-1	p.E1105_splice	NRK_uc010npc.1_Splice_Site_p.E773_splice	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1105							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTTCTTTTAGGAGCCAGGTG	0.418000										HNSCC(51;0.14)				49			34		0	0	0.004289	0	0
COL6A6	131873	broad.mit.edu	37	3	130345347	130345347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:130345347G>A	uc010htl.3	+	23	4928	c.4897G>A	c.(4897-4899)Gga>Aga	p.G1633R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1633	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGAGATCTGGGAGAAAAAGG	0.413000														48			32		0	0	0.012213	0	0
MUC5B	727897	broad.mit.edu	37	11	1258233	1258233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:1258233G>A	uc001lta.3	+	24	3195	c.3136G>A	c.(3136-3138)Ggg>Agg	p.G1046R	MUC5B_uc009yct.2_Missense_Mutation_p.G1046R	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1046	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCGTGGTGGGGGACGCACT	0.657000														8			9		0	0	0.004482	0	0
POTEH	23784	broad.mit.edu	37	22	16266957	16266957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:16266957G>A	uc010gqp.2	-	8	1544	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.P217S|POTEH_uc002zlj.1_Missense_Mutation_p.P333S	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	498										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCAGTGTCAGGAAATTGCTGG	0.413000														158			18		0	0	0.003755	0	0
KCNH8	131096	broad.mit.edu	37	3	19559536	19559536	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:19559536C>T	uc003cbk.1	+	14	2784	c.2589C>T	c.(2587-2589)acC>acT	p.T863T	KCNH8_uc010hex.1_Silent_p.T324T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	863						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGAGGAGACCAAGCAGCAGA	0.408000														32			41		0	0	0.006999	0	0
AURKB	9212	broad.mit.edu	37	17	8108286	8108286	+	Missense_Mutation	SNP	G	A	A	rs144169786		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:8108286G>A	uc002gkn.3	-	8	1002	c.941C>T	c.(940-942)tCg>tTg	p.S314L	AURKB_uc021tpy.1_Missense_Mutation_p.S281L|AURKB_uc010cnu.3_Missense_Mutation_p.S133L|AURKB_uc002gkm.3_Missense_Mutation_p.S313L|AURKB_uc010vuu.2_Missense_Mutation_p.S272L|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	313	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						CAGCCGTTCCGAGGGGTTATG	0.632000														26			15		0	0	0.003163	0	0
FERMT1	55612	broad.mit.edu	37	20	6093246	6093246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:6093246G>A	uc002wmr.3	-	3	1199	c.410C>T	c.(409-411)tCc>tTc	p.S137F	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.S137F	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	137	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAACAAGGAAAGCTCTTC	0.299000														22			21		0	0	0.008871	0	0
OR11H12	440153	broad.mit.edu	37	14	19377829	19377829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:19377829G>A	uc010tkp.2	+	0	236	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTTCCTGGGAAATTTCTCC	0.413000														62			50		0	0	0.014410	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093384	30093385	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:30093384_30093385CC>TT	uc010dmc.3	+	0		c.1759_1760CC>TT								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGATCTGCCCCCCTGGGCTTTT	0.500000														26			14		0	0	0.004672	0	0
KDR	3791	broad.mit.edu	37	4	55970857	55970857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:55970857C>T	uc003has.3	-	12	2242	c.1940G>A	c.(1939-1941)aGg>aAg	p.R647K	KDR_uc003hat.1_Missense_Mutation_p.R647K|KDR_uc011bzx.2_Missense_Mutation_p.R647K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	647	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGGTCTTCCTGTCTTGAGC	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				14			16		0	0	0.006122	0	0
CEP164	22897	broad.mit.edu	37	11	117209316	117209316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:117209316C>T	uc001prc.3	+	2	161	c.14C>T	c.(13-15)cCc>cTc	p.P5L	CEP164_uc001prb.3_Missense_Mutation_p.P5L|CEP164_uc001prd.2_Missense_Mutation_p.P5L|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.P5L	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	5	Interaction with ATRIP.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCTGGACGACCCCTCCGCATA	0.493000														58			44		0	0	0.014410	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540517	169540517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:169540517G>A	uc003fgb.3	+	0	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	270										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAACCGCCTGGAGAAGGTGCC	0.622000														2			15		0	0	0.003163	0	0
TCRA	0	broad.mit.edu	37	14	22891808	22891808	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22891808C>T	uc001wdv.4	+	1	185	c.120C>T	c.(118-120)ctC>ctT	p.L40L	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|AK125397_uc001wdt.1_Intron|TCRA_uc001wdu.2_Silent_p.L40L					SubName: Full=TRA@ protein;																		CTGCCACCCTCAGGTGCTCCA	0.488000														42			47		0	0	0.014410	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924038	230924038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:230924038C>T	uc002vqd.2	-	1	490	c.31G>A	c.(31-33)Gat>Aat	p.D11N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D11N|SLC16A14_uc002vqf.3_Missense_Mutation_p.D11N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	11						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTTCAAAATCATACCCAATA	0.373000														30			22		0	0	0.014323	0	0
TNXB	7148	broad.mit.edu	37	6	32065114	32065114	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:32065114A>C	uc003nzl.2	-	2	718	c.516T>G	c.(514-516)gaT>gaG	p.D172E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	172					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGATCTCAGCATCTGTGGGGT	0.622000														179			229		0	0	0.014410	0	0
CCNB2	9133	broad.mit.edu	37	15	59406661	59406661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:59406661G>A	uc002afz.3	+	3	470	c.286G>A	c.(286-288)Gag>Aag	p.E96K		NM_004701	NP_004692	O95067	CCNB2_HUMAN	Homo sapiens cyclin B2 (CCNB2), mRNA.	96					G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|mitosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCACACCTGAGGATGTCTC	0.443000														43			32		0	0	0.005524	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884669	228884669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:228884669G>A	uc002vpq.2	-	6	948	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P301S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P301S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	301						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCTGAGGGATCTAGACTC	0.403000														83			72		0	0	0.014410	0	0
EBF2	64641	broad.mit.edu	37	8	25708175	25708175	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:25708175G>T	uc003xes.2	-	14	1896	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	544					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCTGATGACAGGGGCAAAGGC	0.512000														11			44		8.01111e-26	8.47649e-26	0.010771	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130218372	130218372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:130218372G>A	uc004evz.3	+	4	1084	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ARHGAP36_uc004ewa.3_Missense_Mutation_p.E235K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E216K|ARHGAP36_uc004ewc.3_Missense_Mutation_p.E111K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	247	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAATTCATTGAAAAACATGG	0.478000														15			12		0	0	0.013537	0	0
SYTL4	94121	broad.mit.edu	37	X	99944858	99944858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:99944858C>T	uc004egd.4	-	10	1263	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SYTL4_uc010nnb.3_5'UTR|SYTL4_uc010nnc.3_Missense_Mutation_p.D303N|SYTL4_uc004ege.4_Missense_Mutation_p.D303N|SYTL4_uc004egf.4_Missense_Mutation_p.D303N|SYTL4_uc004egg.4_Missense_Mutation_p.D303N	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	303					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTACCATATCCACATTGAGG	0.403000														27			19		0	0	0.010504	0	0
BARX2	8538	broad.mit.edu	37	11	129306863	129306863	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:129306863G>A	uc001qfc.4	+	1	455	c.405G>A	c.(403-405)cgG>cgA	p.R135R		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	135										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGCCCCGCCGGAGTCGCACCA	0.627000														9			11		0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9063144	9063144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:9063144G>A	uc002mkp.3	-	2	24506	c.24302C>T	c.(24301-24303)tCa>tTa	p.S8101L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8103	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGGAGTTGATGTGGAGAC	0.483000														55			32		0	0	0.009535	0	0
OR8D2	283160	broad.mit.edu	37	11	124189897	124189897	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124189897A>G	uc010sah.2	-	0	197	c.197T>C	c.(196-198)tTg>tCg	p.L66S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AATGAAAGACAAATGACTGAG	0.418000														30			23		0	0	0.003954	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602760	96602760	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:96602760C>T	uc010qnz.2	+	6	1128	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	CYP2C19_uc010qny.2_Silent_p.F354F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	376					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACGTTAAATTCAGAAACTACC	0.473000														13			31		0	0	0.009535	0	0
ZNF480	147657	broad.mit.edu	37	19	52825260	52825260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:52825260C>T	uc010ydl.2	+	4	827	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF480_uc002pyv.3_Missense_Mutation_p.H176Y|ZNF480_uc010ydm.2_Missense_Mutation_p.H210Y|ZNF480_uc010epn.3_Missense_Mutation_p.H84Y|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTGTAGAATTCATACTGGAGA	0.368000														44			15		0	0	0.002450	0	0
MFSD4	148808	broad.mit.edu	37	1	205554093	205554093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:205554093G>A	uc001hcv.4	+	4	1035	c.949G>A	c.(949-951)Gta>Ata	p.V317I	MFSD4_uc010prk.2_Missense_Mutation_p.V230I|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.V262I	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	317					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGCGCCCTGGTACTGTTCAT	0.607000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			70		0	0	0.014410	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577418	67577418	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:67577418G>A	uc003xwn.3	-	0	2035	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	592					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGTAATAGGGAAAGCTTCTG	0.393000														52			32		0	0	0.010818	0	0
GRM8	2918	broad.mit.edu	37	7	126544728	126544728	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:126544728C>A	uc003vlr.2	-	2	1048	c.737G>T	c.(736-738)tGc>tTc	p.C246F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.C246F|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	246					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGAGCAATGCAAACACCACC	0.373000										HNSCC(24;0.065)				43			22		1.36565e-18	1.43901e-18	0.002780	1	0
ITGAM	3684	broad.mit.edu	37	16	31336029	31336029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:31336029G>A	uc002ebr.3	+	17	2316	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R	ITGAM_uc002ebq.3_Missense_Mutation_p.G739R|ITGAM_uc010can.3_Missense_Mutation_p.G145R|ITGAM_uc002ebs.1_Missense_Mutation_p.G145R|ITGAM_uc010vfj.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	739					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCTCTGGTGGGAACGCCATT	0.587000														21			10		0	0	0.013537	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10575720	10575720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:10575720C>T	uc002czw.3	+	10	1822	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	ATF7IP2_uc010uyp.2_Missense_Mutation_p.P99S|ATF7IP2_uc002czu.3_Missense_Mutation_p.P555S|ATF7IP2_uc002czv.3_Silent_p.H532H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	555				P -> L (in Ref. 5; BAD97212).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GCACCTGCCACCTCTCCCAGA	0.423000														33			19		0	0	0.012319	0	0
TUBG2	27175	broad.mit.edu	37	17	40818353	40818353	+	Silent	SNP	C	T	T	rs523338		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:40818353C>T	uc010wgr.2	+	9	1265	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	TUBG2_uc002iap.3_Silent_p.L184L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	337					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.L337L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCACAAGAGCCTGCAGAGGAT	0.672000														37			3		0	0	0.001168	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654804	8654804	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:8654804C>T	uc002mkj.1	-	15	2143	c.1869G>A	c.(1867-1869)ggG>ggA	p.G623G	ADAMTS10_uc002mki.1_Missense_Mutation_p.G114E|ADAMTS10_uc002mkk.1_Silent_p.G255G	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	623	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTAGAATTTCCCACGGAAAG	0.587000														44			21		0	0	0.014323	0	0
ATF2	1386	broad.mit.edu	37	2	175962221	175962221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:175962221G>A	uc002ujl.3	-	10	1191	c.929C>T	c.(928-930)tCt>tTt	p.S310F	ATF2_uc002ujv.3_Missense_Mutation_p.S57F|ATF2_uc002ujm.3_Missense_Mutation_p.S252F|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.S310F|ATF2_uc010fqu.3_Missense_Mutation_p.S292F|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.S252F|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.S261F|ATF2_uc002ujw.1_Missense_Mutation_p.S252F|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	310					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTGCGGTCGAGATTCCTCTGA	0.433000														45			33		0	0	0.005524	0	0
MST1P2	11209	broad.mit.edu	37	1	16975974	16975974	+	RNA	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:16975974C>T	uc010och.2	+	10		c.1996C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGCCAAGATGCTGTGTGGGCC	0.597000														33			7		0	0	0.004482	0	0
CD2	914	broad.mit.edu	37	1	117311171	117311171	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:117311171G>A	uc001egu.4	+	4	851	c.822G>A	c.(820-822)caG>caA	p.Q274Q		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	274					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAACCCCTCAGAATCCAGCAA	0.567000														18			12		0	0	0.010729	0	0
AGMAT	79814	broad.mit.edu	37	1	15901252	15901252	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:15901252C>T	uc001awv.2	-	6	1128	c.985_splice	c.e6+1	p.G329_splice	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	329					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTACTCACCAGAAAGATCA	0.478000														35			20		0	0	0.010504	0	0
GAD1	2571	broad.mit.edu	37	2	171702538	171702538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:171702538G>A	uc002ugi.3	+	9	1389	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	323					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AATTCCAGCTGATTTTGAGGC	0.353000														36			29		0	0	0.009535	0	0
ZNF676	163223	broad.mit.edu	37	19	22362962	22362962	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:22362962G>A	uc002nqs.1	-	2	1875	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S518S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTCAGTAAGGATCGAGGACC	0.398000														25			18		0	0	0.006122	0	0
GALNTL1	57452	broad.mit.edu	37	14	69795228	69795228	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:69795228G>A	uc001xlb.2	+	5	957	c.630G>A	c.(628-630)ctG>ctA	p.L210L	GALNTL1_uc001xla.2_Silent_p.L210L|GALNTL1_uc010aqu.2_Silent_p.L210L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCACCTTTCTGGATAGCCACT	0.642000														89			68		0	0	0.014410	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931860	109931860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:109931860C>T	uc004eou.4	-	8	1299	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CHRDL1_uc004eov.3_Missense_Mutation_p.G311E|CHRDL1_uc004eow.3_Missense_Mutation_p.G316E|CHRDL1_uc010nps.3_Missense_Mutation_p.G316E|CHRDL1_uc011mss.2_Missense_Mutation_p.G237E	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	310	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GCAGCATTTTCCGTCTATTTT	0.443000														81			56		0	0	0.014410	0	0
AP1M1	8907	broad.mit.edu	37	19	16318952	16318952	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:16318952C>T	uc002ndv.2	+	3	563	c.390C>T	c.(388-390)atC>atT	p.I130I	AP1M1_uc002ndu.2_Silent_p.I130I|AP1M1_uc010xpd.1_Silent_p.I130I	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	130					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACAGCAAGATCCTGCAGGAGT	0.592000														43			18		0	0	0.007413	0	0
HPD	3242	broad.mit.edu	37	12	122296617	122296617	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:122296617C>T	uc001ubj.3	-	1	46	c.6G>A	c.(4-6)acG>acA	p.T2T	HPD_uc001ubk.3_5'UTR	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	2					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CACTGTAAGTCGTCTAAGGAG	0.522000														38			22		0	0	0.012319	0	0
HTR7	3363	broad.mit.edu	37	10	92509351	92509351	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:92509351C>T	uc001kha.3	-	2	783	c.540_splice	c.e2-1	p.R180_splice	HTR7_uc001kgz.3_Splice_Site_p.R180_splice|HTR7_uc001khb.3_Splice_Site_p.R180_splice	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	180					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCCCAAGGTACCTAGTGGAGA	0.532000														8			28		0	0	0.005443	0	0
ZW10	9183	broad.mit.edu	37	11	113604494	113604494	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:113604494G>A	uc001poe.3	-	15	2359	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	754					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTACTTCACTGGAAGAGAACG	0.423000														26			37		0	0	0.003271	0	0
DOCK2	1794	broad.mit.edu	37	5	169423153	169423153	+	Silent	SNP	G	A	A	rs150071550	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:169423153G>A	uc003maf.3	+	29	3137	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.T511T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1019	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAACACACGAACTTTGAGT	0.502000														33			20		0	0	0.002780	0	0
CARD10	29775	broad.mit.edu	37	22	37912264	37912264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:37912264C>T	uc003asx.1	-	2	432	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asy.1_Missense_Mutation_p.E139K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	139					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGTCGCACCTCTGTCATCAAG	0.632000														12			6		0	0	0.001984	0	0
WARS	7453	broad.mit.edu	37	14	100828141	100828141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:100828141G>A	uc001yhh.1	-	2	598	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	WARS_uc001yhi.1_Missense_Mutation_p.H32Y|WARS_uc001yhg.2_Missense_Mutation_p.H73Y|WARS_uc001yhl.1_Missense_Mutation_p.H73Y|WARS_uc001yhk.1_Missense_Mutation_p.H32Y|WARS_uc010twz.1_Missense_Mutation_p.H73Y	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	73					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCTGGGCCATGATTACTGGTA	0.488000														110			64		0	0	0.014410	0	0
IL4R	3566	broad.mit.edu	37	16	27367137	27367137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:27367137G>A	uc002don.3	+	7	921	c.679G>A	c.(679-681)Gag>Aag	p.E227K	IL4R_uc002dop.4_Missense_Mutation_p.E212K|IL4R_uc010bxy.3_Missense_Mutation_p.E227K|IL4R_uc002doo.3_Missense_Mutation_p.E67K	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	227					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						AGCCTACAGGGAGCCCTTCGA	0.607000														40			18		0	0	0.007413	0	0
GLIS1	148979	broad.mit.edu	37	1	53975537	53975537	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:53975537G>A	uc001cvr.1	-	7	2089	c.1522C>T	c.(1522-1524)Ctg>Ttg	p.L508L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	508	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGCTGGGCAGAGGCGGGGGT	0.657000														18			11		0	0	0.003163	0	0
ABCC8	6833	broad.mit.edu	37	11	17483244	17483244	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:17483244G>A	uc001mnc.3	-	4	834	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ABCC8_uc010rcy.1_Silent_p.F236F	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	236					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGTCTTGATGAAGGCGTTCA	0.602000														308			243		0	0	0.014410	0	0
PPM1H	57460	broad.mit.edu	37	12	63225985	63225985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:63225985G>A	uc001srk.3	-	1	469	c.320C>T	c.(319-321)gCa>gTa	p.A107V		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	107							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CACGGCCCCTGCCTTCTTCTT	0.557000														9			14		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179458480	179458480	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:179458480A>T	uc021vsy.1	-	246	51068	c.50843T>A	c.(50842-50844)aTt>aAt	p.I16948N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I10643N|TTN_uc021vta.1_Missense_Mutation_p.I10576N|TTN_uc021vtb.1_Missense_Mutation_p.I10451N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17875	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTCAATAATATAATTGGT	0.393000														32			26		0	0	0.007291	0	0
DEDD	9191	broad.mit.edu	37	1	161092179	161092181	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:161092179_161092181GG>AT	uc009wty.3	-	4	900_902	c.803_805CC>AT	c.(802-807)tcccgg>tATgg	p.268_269SR>Y	NIT1_uc001fxw.3_Intron|DEDD_uc001fxz.3_Missense_Mutation_p.238_239SR>Y|DEDD_uc001fya.3_Missense_Mutation_p.238_239SR>Y|DEDD_uc001fyb.3_Missense_Mutation_p.238_239SR>Y|DEDD_uc010pkb.2_Missense_Mutation_p.195_196SR>Y	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.	238					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCAGGTCCCGGGACTTGAGGAT	0.522000														55			51		0	0	0.004672	0	0
RASL11A	387496	broad.mit.edu	37	13	27847287	27847287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:27847287C>T	uc001urd.1	+	3	1003	c.385C>T	c.(385-387)Cag>Tag	p.Q129*		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	129	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACCCCTTTATCAGCACATCCG	0.562000														44			32		0	0	0.012213	0	0
OR6C74	254783	broad.mit.edu	37	12	55641806	55641806	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:55641806C>T	uc010spg.2	+	0	735	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACATGGTGGTCGTGTCCATTT	0.388000														46			34		0	0	0.006999	0	0
C8orf34	116328	broad.mit.edu	37	8	69434100	69434100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:69434100G>A	uc010lyz.3	+	5	1123	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	C8orf34_uc010lyy.2_Missense_Mutation_p.E278K|C8orf34_uc003xyb.3_Missense_Mutation_p.E167K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	192					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGTAGAGAAGAAAATGATGC	0.428000														29			18		0	0	0.010504	0	0
OC90	729330	broad.mit.edu	37	8	133036941	133036941	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:133036941G>A	uc003ytg.2	-	12	1221	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	OC90_uc011lix.1_Silent_p.N407N	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	423	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGAGGCTTTGGTTAAAGGAGG	0.617000														15			19		0	0	0.008871	0	0
FAM170A	340069	broad.mit.edu	37	5	118969986	118969986	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:118969986C>T	uc003ksm.2	+	2	753	c.543C>T	c.(541-543)ctC>ctT	p.L181L	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.L181L|FAM170A_uc003kso.3_Silent_p.L134L	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	181						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCAGAAACCTCCTGTCTGACA	0.547000														54			39		0	0	0.008740	0	0
OR5D16	390144	broad.mit.edu	37	11	55607076	55607076	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:55607076G>A	uc010rio.2	+	0	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V282M(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACACCGTGGTGATCCCCTTGT	0.403000														26			34		0	0	0.009718	0	0
C15orf2	23742	broad.mit.edu	37	15	24923948	24923948	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:24923948G>A	uc001ywo.3	+	0	3408	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	978					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCACAGCAAAGACTTCTGGAT	0.483000														40			19		0	0	0.008871	0	0
TBCEL	219899	broad.mit.edu	37	11	120916475	120916475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:120916475C>T	uc001pxo.3	+	1	281	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C	TBCEL_uc009zay.3_Missense_Mutation_p.R26C|TBCEL_uc001pxp.3_5'UTR|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	26						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCCTTATCGCCGTGGCCCGGG	0.423000														28			17		0	0	0.004990	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969478	5969478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:5969478G>A	uc002kmz.4	-	17	1715	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	L3MBTL4_uc002kmy.4_Missense_Mutation_p.P510S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P519S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	519					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTGCCGAGGGGAAGGTCCCGA	0.612000														42			39		0	0	0.005524	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148791	103148791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:103148791G>A	uc002tbz.4	+	11	2498	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	681					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTCCTAGATGATGACAGCAG	0.443000														52			38		0	0	0.010771	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033912	110033912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:110033912C>T	uc001dxr.3	+	9	1742	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ATXN7L2_uc001dxs.3_Missense_Mutation_p.P203L|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	576										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGTTATCCCCTGGCCCTACC	0.592000														288			236		0	0	0.014410	0	0
MCF2	4168	broad.mit.edu	37	X	138697137	138697137	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:138697137C>T	uc011mwn.1	-	12	1707	c.1701G>A	c.(1699-1701)agG>agA	p.R567R	MCF2_uc004fav.3_Silent_p.R422R|MCF2_uc004fau.3_Silent_p.R422R|MCF2_uc010nsh.2_Silent_p.R422R|MCF2_uc011mwm.2_Silent_p.R383R|MCF2_uc011mwl.2_Silent_p.R383R|MCF2_uc011mwo.1_Silent_p.R482R|MCF2_uc004faw.2_Silent_p.R482R	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	422	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTGCCAGGTTCCTGAAACCAG	0.398000														134			108		0	0	0.014410	0	0
TBCE	6905	broad.mit.edu	37	1	235605135	235605135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:235605135G>A	uc010pxr.1	+	14	1553	c.1430G>A	c.(1429-1431)gGt>gAt	p.G477D	TBCE_uc001hwz.1_Missense_Mutation_p.G426D|TBCE_uc001hxa.1_Missense_Mutation_p.G426D|TBCE_uc001hxb.1_Missense_Mutation_p.G313D	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	426					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ACAGAATATGGTGCACCTGAA	0.338000														17			30		0	0	0.008361	0	0
abParts	0	broad.mit.edu	37	14	106653435	106653435	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:106653435T>C	uc021ser.1	-	1434		c.28785_splice	c.e1434+1							Parts of antibodies, mostly variable regions.																		ATACAGGAAGTTCCTGGAATT	0.522000														45			28		0	0	0.006320	0	0
FOXG1	2290	broad.mit.edu	37	14	29237290	29237290	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:29237290A>C	uc001wqe.3	+	0	1004	c.805A>C	c.(805-807)Acc>Ccc	p.T269P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	269					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCGGCGGCACCACGGGCAA	0.682000														22			13		0	0	0.002450	0	0
CHD6	84181	broad.mit.edu	37	20	40079728	40079728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:40079728G>A	uc002xka.1	-	22	3719	c.3541C>T	c.(3541-3543)Ccc>Tcc	p.P1181S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1181					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCCTCTGGGGACTGGGGCA	0.542000														56			32		0	0	0.004878	0	0
AKAP3	10566	broad.mit.edu	37	12	4736158	4736158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:4736158G>A	uc001qnb.4	-	3	2154	c.1910C>T	c.(1909-1911)cCc>cTc	p.P637L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	637					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TAGCCTGGGGGGAGAAGACGC	0.542000														20			15		0	0	0.002450	0	0
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	T	T	rs121913292		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:89692905G>T	uc001kfb.3	+	4	1421	c.389G>T	c.(388-390)cGa>cTa	p.R130L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403000	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				15			31		3.99451e-17	4.19177e-17	0.009535	1	0
LOC401010	401010	broad.mit.edu	37	2	132201387	132201387	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:132201387G>A	uc002tst.2	-	0	1081	c.615C>T	c.(613-615)ttC>ttT	p.F205F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCCGCTGCATGAAACTGATGA	0.577000														26			22		0	0	0.014323	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:215279114G>A	uc002vet.2	+	1	327	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	VWC2L_uc010zjl.1_Missense_Mutation_p.R66Q	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000														21			16		0	0	0.004990	0	0
UAP1	6675	broad.mit.edu	37	1	162536125	162536125	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:162536125C>T	uc001gce.4	+	1	596	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	89					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGCTCCAGGCCTGGGAAAGTG	0.413000														46			15		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179433574	179433574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:179433574G>A	uc021vsy.1	-	274	69806	c.69581C>T	c.(69580-69582)aCt>aTt	p.T23194I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T16889I|TTN_uc021vta.1_Missense_Mutation_p.T16822I|TTN_uc021vtb.1_Missense_Mutation_p.T16697I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24121	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T23193S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCCTTGAGTTAGGTTGGT	0.403000														43			48		0	0	0.014410	0	0
ITGB8	3696	broad.mit.edu	37	7	20418902	20418902	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:20418902G>C	uc003suu.3	+	3	1322	c.617G>C	c.(616-618)aGg>aCg	p.R206T	ITGB8_uc011jyh.2_Missense_Mutation_p.R71T|ITGB8_uc003sut.3_Missense_Mutation_p.R206T	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CACCCCGAAAGGATTCATAAT	0.338000														21			11		0	0	0.013537	0	0
RPN2	6185	broad.mit.edu	37	20	35833181	35833181	+	Silent	SNP	T	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:35833181T>G	uc002xgp.3	+	5	871	c.567T>G	c.(565-567)gcT>gcG	p.A189A	RPN2_uc010gfw.2_Silent_p.A32A|RPN2_uc002xgq.3_Silent_p.A157A|RPN2_uc021wdb.1_5'UTR	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	189					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACCTTGTTGCTCGCCTGGATG	0.488000														65			63		0	0	0.014410	0	0
KCNJ9	3765	broad.mit.edu	37	1	160053979	160053979	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:160053979G>A	uc001fuy.1	+	1	401	c.159G>A	c.(157-159)gtG>gtA	p.V53V		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	53					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACGCTGGTGGACCTGCAGT	0.657000														10			4		0	0	0.009096	0	0
SLC6A1	6529	broad.mit.edu	37	3	11061952	11061952	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:11061952C>T	uc010hdq.3	+	5	936	c.525C>T	c.(523-525)tcC>tcT	p.S175S		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	175					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCTGCTTCTCCAACTACAGCA	0.592000														9			9		0	0	0.006214	0	0
OR8B12	219858	broad.mit.edu	37	11	124413368	124413368	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124413368G>A	uc010sam.2	-	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGTTAAAAAGGAAGAAGTACA	0.453000														40			26		0	0	0.003954	0	0
COL18A1	80781	broad.mit.edu	37	21	46888517	46888517	+	Silent	SNP	C	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:46888517C>G	uc002zhi.3	+	1	1029	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	COL18A1_uc002zhg.3_Silent_p.P156P	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	571	FZ.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCGGCTCCCCGCCTTCGTCG	0.627000														58			36		0	0	0.004289	0	0
SMCHD1	23347	broad.mit.edu	37	18	2688675	2688675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:2688675C>T	uc002klm.4	+	6	992	c.803C>T	c.(802-804)tCt>tTt	p.S268F		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	268					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTGTGCTTTCTAAAGAAGAT	0.279000														4			6		0	0	0.004482	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757297	56757297	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:56757297G>A	uc010rjp.2	+	0	909	c.909G>A	c.(907-909)gtG>gtA	p.V303V		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTTTAAAAGTGATAGGGAAAA	0.299000														12			8		0	0	0.003080	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814308	75814308	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:75814308G>T	uc010ths.2	-	0	210	c.169C>A	c.(169-171)Ctt>Att	p.L57I						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CACAAAAAAAGGAGAACAACA	0.418000														21			13		2.27111e-07	2.36381e-07	0.013537	1	0
PDE1A	5136	broad.mit.edu	37	2	183104853	183104853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:183104853C>T	uc002uos.3	-	3	466	c.382G>A	c.(382-384)Gga>Aga	p.G128R	PDE1A_uc010zfp.1_Missense_Mutation_p.G24R|PDE1A_uc002uoq.1_Missense_Mutation_p.G128R|PDE1A_uc010zfq.1_Missense_Mutation_p.G128R|PDE1A_uc002uor.3_Missense_Mutation_p.G112R|PDE1A_uc002uou.3_Missense_Mutation_p.G94R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACAAAAATTCCAGCTTGAACA	0.393000														39			32		0	0	0.003271	0	0
GDF5	8200	broad.mit.edu	37	20	34022048	34022048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:34022048C>T	uc010gfc.1	-	1	1406	c.1165G>A	c.(1165-1167)Ggc>Agc	p.G389S	GDF5OS_uc002xcj.3_Silent_p.A153A|GDF5_uc002xck.1_Missense_Mutation_p.G389S	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	389					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTCGCTTGCCCTGGCGAGTG	0.592000														83			69		0	0	0.014410	0	0
CNTN4	152330	broad.mit.edu	37	3	2787269	2787269	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:2787269G>A	uc003bpc.3	+	5	585	c.246G>A	c.(244-246)ggG>ggA	p.G82G	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.G82G|CNTN4_uc003bpd.1_Silent_p.G82G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	82	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTGTTGAAGGGAGCTTGTTGA	0.413000														51			32		0	0	0.004289	0	0
ZNF831	128611	broad.mit.edu	37	20	57829779	57829779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:57829779G>A	uc002yan.3	+	4	5015	c.5015G>A	c.(5014-5016)cGa>cAa	p.R1672Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1672						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGAAGACCGATTAGTTATA	0.453000														28			19		0	0	0.012319	0	0
MYH6	4624	broad.mit.edu	37	14	23855281	23855281	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:23855281G>A	uc001wjv.3	-	33	5090	c.5019C>T	c.(5017-5019)atC>atT	p.I1673I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1673					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCACGATGGCGATGTTCTCCT	0.647000														38			15		0	0	0.002450	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581187	40581187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:40581187G>A	uc010xvh.2	-	5	1313	c.1165C>T	c.(1165-1167)Ccg>Tcg	p.P389S	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.P388S|ZNF780A_uc002omz.3_Missense_Mutation_p.P388S	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATTCAAACGGTTTTTCACCT	0.403000														161			49		0	0	0.014410	0	0
ATP11C	286410	broad.mit.edu	37	X	138864759	138864759	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:138864759G>A	uc004faz.3	-	17	2007	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F636F	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	636					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAATATCATCGAAAACTTTTT	0.328000														33			27		0	0	0.005443	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206120	13206120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:13206120G>A	uc003nah.2	+	7	1111	c.738G>A	c.(736-738)atG>atA	p.M246I	PHACTR1_uc011dir.2_Missense_Mutation_p.M315I|PHACTR1_uc010jpc.3_Missense_Mutation_p.M246I|PHACTR1_uc003nag.2_Missense_Mutation_p.M246I	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	246						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	p.M246I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGAAAGTCATGATCTGTATGC	0.602000														292			152		0	0	0.014410	0	0
LAT2	7462	broad.mit.edu	37	7	73634332	73634332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:73634332C>T	uc003uag.3	+	5	771	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LAT2_uc003uah.3_Missense_Mutation_p.P74L|LAT2_uc003uai.3_Missense_Mutation_p.P74L|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	74					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						GACATGGCACCCACAAGGTAG	0.637000														27			18		0	0	0.007413	0	0
GPR108	56927	broad.mit.edu	37	19	6734246	6734246	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:6734246G>A	uc002mfp.3	-	4	493	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	149						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCTGGTTTGGAGGGTGCTT	0.652000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			28		0	0	0.009535	0	0
TMCO3	55002	broad.mit.edu	37	13	114164616	114164616	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:114164616C>T	uc001vtu.4	+	6	1463	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	TMCO3_uc001vtt.4_Silent_p.L368L	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	368						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	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;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATTTGGCTTGCTGTGGGGGCA	0.493000														58			45		0	0	0.014410	0	0
OR2B2	81697	broad.mit.edu	37	6	27879182	27879182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:27879182C>T	uc011dkw.2	-	0	993	c.916G>A	c.(916-918)Gca>Aca	p.A306T		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGACTCTTTGCAACCAACCTT	0.378000														50			26		0	0	0.007291	0	0
GON4L	54856	broad.mit.edu	37	1	155730261	155730261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155730261G>A	uc001flz.2	-	23	5180	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1695S|GON4L_uc009wrh.1_Missense_Mutation_p.P1695S|GON4L_uc001fma.1_Missense_Mutation_p.P1695S|GON4L_uc001fmb.4_Missense_Mutation_p.P891S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1695	PAH 1.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTTGCTCAGGTAACAGGAAA	0.483000														66			21		0	0	0.014323	0	0
BAHD1	22893	broad.mit.edu	37	15	40751525	40751525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:40751525C>T	uc001zlu.2	+	1	933	c.862C>T	c.(862-864)Cct>Tct	p.P288S	BAHD1_uc001zlt.2_Missense_Mutation_p.P288S|BAHD1_uc010bbp.1_Missense_Mutation_p.P288S|BAHD1_uc001zlv.2_Missense_Mutation_p.P288S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	288	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATCTGCAACTCCTTGTGGGCC	0.642000														37			25		0	0	0.005443	0	0
C6	729	broad.mit.edu	37	5	41158798	41158798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:41158798G>A	uc003jmk.2	-	12	2156	c.1946C>T	c.(1945-1947)cCt>cTt	p.P649L	C6_uc003jml.1_Missense_Mutation_p.P649L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	649	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTTTCTGGAGGAACTGGCTG	0.398000														25			22		0	0	0.003954	0	0
PTH	5741	broad.mit.edu	37	11	13514139	13514139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:13514139C>T	uc001mlb.3	-	2	276	c.161G>A	c.(160-162)tGg>tAg	p.W54*		NM_000315	NP_000306	P01270	PTHY_HUMAN	Homo sapiens parathyroid hormone (PTH), mRNA.	54	Important for receptor binding.				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CTTACGCAGCCATTCTACTCT	0.493000														43			29		0	0	0.007291	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519312	113519312	+	Missense_Mutation	SNP	C	T	T	rs76910192	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:113519312C>T	uc010ljy.1	-	3	1866	c.1835G>A	c.(1834-1836)gGg>gAg	p.G612E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	612					glycogen metabolic process	integral to membrane		p.G612R(1)|p.G612G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCAGTTATCCCTCCTAAAGC	0.393000														63			43		0	0	0.013114	0	0
CALR3	125972	broad.mit.edu	37	19	16590073	16590073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:16590073C>T	uc002ned.2	-	8	1087	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	342	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GCATCCATCTCCCTTTCTGGA	0.532000														52			29		0	0	0.008361	0	0
MYO5B	4645	broad.mit.edu	37	18	47390533	47390533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:47390533C>T	uc002leb.2	-	27	4109	c.3821G>A	c.(3820-3822)cGg>cAg	p.R1274Q	MYO5B_uc002lea.2_Missense_Mutation_p.R415Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1274					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCGAGTCGCCGCTGGTCGGC	0.612000														37			24		0	0	0.003954	0	0
HTT	3064	broad.mit.edu	37	4	3210615	3210615	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:3210615C>G	uc021xkv.1	+	45	6413	c.6268C>G	c.(6268-6270)Ctg>Gtg	p.L2090V		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2090					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCACGTGTCACTGGAAACAGT	0.582000														9			7		0	0	0.003080	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	Missense_Mutation	SNP	C	T	T	rs688852	by1000genomes	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:16734855C>T	uc010vwr.1	-	2	720	c.278G>A	c.(277-279)cGg>cAg	p.R93Q						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000														19			5		0	0	0.001984	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246133	33246133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:33246133G>A	uc003odr.3	+	0	1217	c.937G>A	c.(937-939)Ggt>Agt	p.G313S		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	313					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAAGCTGGCTGGTGCCACCCA	0.622000														55			99		0	0	0.014410	0	0
VSIG1	340547	broad.mit.edu	37	X	107320491	107320491	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:107320491G>A	uc011msk.2	+	7	1313	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	VSIG1_uc004eno.3_Silent_p.L348L	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	348						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACATCGAGCTGGAGCTGGAGC	0.567000														30			26		0	0	0.003330	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724540	38724540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:38724540C>T	uc001wum.1	-	0	1035	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	230						integral to membrane	sugar binding	p.E230K(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCGCCGATTTCGTCCGCGATG	0.637000														106			89		0	0	0.014410	0	0
DPRX	503834	broad.mit.edu	37	19	54140083	54140083	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:54140083C>T	uc002qcf.1	+	2	468	c.417C>T	c.(415-417)gtC>gtT	p.V139V		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ACCTCAAGGTCCCTGCAAATG	0.527000														187			60		0	0	0.014410	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282858	69282858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:69282858G>A	uc004dxu.1	+	0	518	c.484G>A	c.(484-486)Gtg>Atg	p.V162M		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	162	OTU.							p.L161M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGACCAGCTGGTGTTCAGCGT	0.632000														7			9		0	0	0.004482	0	0
GRM1	2911	broad.mit.edu	37	6	146480484	146480485	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:146480484_146480485GG>AA	uc010khw.1	+	3	1171	c.701_splice	c.e3-1	p.G234_splice	GRM1_uc010khu.1_Splice_Site_p.G234_splice|GRM1_uc010khv.1_Splice_Site_p.G234_splice|GRM1_uc003qll.2_Splice_Site_p.G234_splice|GRM1_uc011edz.1_Splice_Site_p.G234_splice|GRM1_uc011eea.1_Splice_Site_p.G234_splice	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	234					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCTGGACAGGGAATTATGGGG	0.475000														17			39		0	0	0.004672	0	0
GPR115	221393	broad.mit.edu	37	6	47682091	47682091	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:47682091C>T	uc003oyz.1	+	6	1281	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	GPR115_uc003oza.1_Silent_p.I370I|GPR115_uc003ozb.1_Silent_p.I370I|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	370					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W427*(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGTTGGATATCAGGAACGAAG	0.458000														28			38		0	0	0.004289	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672809	141672809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:141672809C>T	uc003vwx.1	-	0	765	c.681G>A	c.(679-681)atG>atA	p.M227I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	227					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATAGACCTTCATTGTCCTCA	0.483000														4			39		0	0	0.008740	0	0
PHKA2	5256	broad.mit.edu	37	X	18911701	18911701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:18911701C>T	uc004cyv.4	-	32	4040	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T	LOC100132163_uc004cyt.3_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1204					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522000														107			153		0	0	0.014410	0	0
TNRC6B	23112	broad.mit.edu	37	22	40521847	40521847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:40521847C>T	uc003aym.3	+	2	328	c.26C>T	c.(25-27)tCg>tTg	p.S9L		NM_001024843	NP_001020014	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 3, mRNA.	0					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GGAGAAGTATCGGAAGAAAGC	0.378000														14			8		0	0	0.006214	0	0
LOC649330	649330	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:12907865C>T	uc010obf.2	-	1	504	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LOC649330_uc009vno.2_Missense_Mutation_p.G93E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	93							nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.483000														94			15		0	0	0.004007	0	0
SRRM2	23524	broad.mit.edu	37	16	2811981	2811981	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:2811981C>T	uc002crk.3	+	10	2001	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	SRRM2_uc002crj.1_Silent_p.S388S|SRRM2_uc002crl.1_Silent_p.S484S|SRRM2_uc010bsu.1_Silent_p.S388S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	484	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGGGGAGGTCCCGTAGCCCTG	0.557000														28			14		0	0	0.003163	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420705	55420705	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:55420705G>T	uc001sgp.4	+	1	860	c.482G>T	c.(481-483)gGg>gTg	p.G161V	NEUROD4_uc021qyr.1_Missense_Mutation_p.G161V	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	161					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGTGTAAAGGGCTCTCTCAG	0.517000														31			31		1.13719e-10	1.18603e-10	0.008361	1	0
C20orf79	140856	broad.mit.edu	37	20	18794861	18794861	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:18794861C>T	uc002wrk.3	+	0	492	c.402C>T	c.(400-402)ttC>ttT	p.F134F	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	134	SCP2.						sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						CCGGAAAGTTCAAAGTGAGTG	0.463000														40			27		0	0	0.007291	0	0
BMP5	653	broad.mit.edu	37	6	55639005	55639005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:55639005C>T	uc003pcq.3	-	3	1581	c.869G>A	c.(868-870)gGa>gAa	p.G290E	BMP5_uc011dxf.2_Missense_Mutation_p.G290E	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	290					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCTGTCTTCCCACAAGACC	0.423000														60			28		0	0	0.007291	0	0
CATSPERB	79820	broad.mit.edu	37	14	92170938	92170938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:92170938C>T	uc001xzs.1	-	6	714	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGCCACATCATTGGCACAG	0.383000														60			35		0	0	0.012213	0	0
abParts	0	broad.mit.edu	37	14	107276045	107276045	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:107276045G>A	uc021ser.1	-	5		c.258_splice	c.e5-1							Parts of antibodies, mostly variable regions.																		TGGAGCCTGGGAAACCGAGCT	0.517000														2			3		0	0	0.000602	0	0
OR8B8	26493	broad.mit.edu	37	11	124310277	124310277	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124310277G>A	uc010sal.2	-	0	705	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGAAGGCTTTGGACCTGCCCT	0.468000														53			46		0	0	0.014410	0	0
PRDM2	7799	broad.mit.edu	37	1	14105501	14105501	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:14105501A>C	uc001avi.3	+	7	2067	c.1211A>C	c.(1210-1212)aAc>aCc	p.N404T	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.N404T|PRDM2_uc021ogk.1_Missense_Mutation_p.N167T|PRDM2_uc001avk.3_Missense_Mutation_p.N203T|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	404						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACACAGATTAACCGGCGGCGA	0.517000														34			20		0	0	0.012319	0	0
PLG	5340	broad.mit.edu	37	6	161152796	161152796	+	Silent	SNP	G	A	A	rs141539231		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:161152796G>A	uc003qtm.4	+	11	1570	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	486	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.G486G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGGGAATGGGAAAGGATACC	0.498000														8			28		0	0	0.007291	0	0
SOX4	6659	broad.mit.edu	37	6	21595096	21595096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:21595096G>A	uc003ndi.3	+	0	1125	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	111					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TTTCATTCGAGAGGCGGAGCG	0.602000														5			12		0	0	0.010729	0	0
ZBED2	79413	broad.mit.edu	37	3	111312403	111312403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:111312403G>A	uc003dxy.3	-	1	1547	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.H216Y	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	216							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TAAACAAAATGGAAGGGATGT	0.453000														22			14		0	0	0.004007	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492149	85492149	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:85492149G>A	uc001tac.3	+	11	3015	c.2904G>A	c.(2902-2904)ttG>ttA	p.L968L	LRRIQ1_uc021rbo.1_Silent_p.L846L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	968										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAGAATCTTTGAAAAATCTTC	0.313000														14			11		0	0	0.010729	0	0
C2orf65	130951	broad.mit.edu	37	2	74842097	74842097	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:74842097G>A	uc002smy.3	-	2	537	c.420C>T	c.(418-420)tcC>tcT	p.S140S	C2orf65_uc010ysa.2_Silent_p.S140S|C2orf65_uc002smz.2_Silent_p.S140S	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	140					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TTACCTCCAGGGAGGTATAGG	0.468000														25			18		0	0	0.004990	0	0
PROC	5624	broad.mit.edu	37	2	128186044	128186044	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:128186044T>G	uc002tol.3	+	8	998	c.971T>G	c.(970-972)cTg>cGg	p.L324R	PROC_uc002tok.3_Missense_Mutation_p.L303R|PROC_uc010yzi.2_Missense_Mutation_p.L359R|PROC_uc010yzj.2_Missense_Mutation_p.L198R|PROC_uc010yzk.2_Missense_Mutation_p.L358R	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	303	Peptidase S1.		G -> R (in ADPROCD).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATCGCACTGCTGCACCTGGCC	0.647000														31			28		0	0	0.006320	0	0
TXLNB	167838	broad.mit.edu	37	6	139564297	139564297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:139564297G>A	uc021zfy.1	-	9	1586	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	474						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTTCATCGGAGTTGTGCTG	0.463000														12			47		0	0	0.014410	0	0
PRSS54	221191	broad.mit.edu	37	16	58314215	58314215	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:58314215C>T	uc002enf.3	-	6	1496	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	PRSS54_uc002eng.3_Silent_p.R367R|PRSS54_uc010vie.2_Silent_p.R268R|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	367					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCAAAAATCCTACCTTCCC	0.473000														19			18		0	0	0.006122	0	0
COL9A2	1298	broad.mit.edu	37	1	40771413	40771413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:40771413C>T	uc001cfh.1	-	20	1193	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	COL9A2_uc001cfi.1_Missense_Mutation_p.G180R	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	361	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGAGAATCCAGGAAGGCCC	0.612000														34			17		0	0	0.004990	0	0
CARD10	29775	broad.mit.edu	37	22	37892455	37892455	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:37892455C>T	uc003asx.1	-	13	2076	c.2059_splice	c.e13+1	p.A687_splice	CARD10_uc003ast.1_Splice_Site|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Intron|CARD10_uc003asw.1_Splice_Site_p.A401_splice|CARD10_uc003asy.1_Splice_Site_p.A687_splice	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	687					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCAGACTTACCCTTCGAGTC	0.647000														33			21		0	0	0.003954	0	0
DNAH8	1769	broad.mit.edu	37	6	38791338	38791338	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:38791338G>A	uc021yzh.1	+	28	3830	c.3721_splice	c.e28-1	p.E1241_splice	DNAH8_uc003ooe.2_Splice_Site_p.E1024_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTACCACAGGAATTTTTGGC	0.308000														25			40		0	0	0.013114	0	0
PRDM2	7799	broad.mit.edu	37	1	14105503	14105503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:14105503C>T	uc001avi.3	+	7	2069	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R405W|PRDM2_uc021ogk.1_Missense_Mutation_p.R168W|PRDM2_uc001avk.3_Missense_Mutation_p.R204W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	405						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACAGATTAACCGGCGGCGACA	0.517000														34			22		0	0	0.014323	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:13770902G>A	uc003jfd.2	-	55	9603	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome					40			17		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751468	140751468	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140751468T>G	uc003ljw.2	+	0	1507	c.1507T>G	c.(1507-1509)Tcc>Gcc	p.S503A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.S503A|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	505	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTCGTCCTACGTGTC	0.652000														37			37		0	0	0.004289	0	0
DENND3	22898	broad.mit.edu	37	8	142151390	142151390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:142151390C>T	uc003yvy.3	+	3	628	c.350C>T	c.(349-351)cCc>cTc	p.P117L	DENND3_uc003yvw.1_Missense_Mutation_p.P130L|DENND3_uc003yvx.3_Missense_Mutation_p.P196S|DENND3_uc010mep.3_Missense_Mutation_p.P130L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	117	DENN.							p.P117S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGGTTTCCCTATTACAAC	0.582000														120			58		0	0	0.014410	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540572	169540572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:169540572G>A	uc003fgb.3	+	0	863	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	288										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTCTACCTGGGAAACACCGGC	0.627000														7			19		0	0	0.003330	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972508	116972508	+	RNA	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:116972508C>T	uc001tvx.1	+	1		c.779C>T			LINC00173_uc001tvy.3_Intron					Homo sapiens long intergenic non-protein coding RNA 173 (LINC00173), transcript variant 1, non-coding RNA.																		ACAGTGCCATCATTTACTGCC	0.458000														39			16		0	0	0.003163	0	0
ASH1L	55870	broad.mit.edu	37	1	155450034	155450034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155450034G>A	uc009wqq.3	-	2	3107	c.2627C>T	c.(2626-2628)tCc>tTc	p.S876F	ASH1L_uc001fkt.3_Missense_Mutation_p.S876F|ASH1L_uc009wqr.1_Missense_Mutation_p.S876F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	876					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGTTTGAAGGAAGGGATTTC	0.418000														143			57		0	0	0.014410	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158798	18158799	+	Missense_Mutation	DNP	GG	AA	AA	rs143238196		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:18158798_18158799GG>AA	uc021qek.1	+	0	49_50	c.49_50GG>AA	c.(49-51)gga>AAa	p.G17K	MRGPRX3_uc001mnu.3_Missense_Mutation_p.G17K	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	17						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G17R(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCAATCAACGGACGTGAGGAG	0.540000														86			44		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:82544905G>A	uc003uhx.2	-	6	12686	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000														41			38		0	0	0.004878	0	0
DSCR10	259234	broad.mit.edu	37	21	39580344	39580344	+	RNA	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:39580344C>T	uc010gnt.2	+	2		c.466C>T								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		TCCTGGGCTCCAGACAGAAAC	0.587000														58			45		0	0	0.013114	0	0
MXRA5	25878	broad.mit.edu	37	X	3238986	3238986	+	Silent	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:3238986T>C	uc004crg.4	-	4	4897	c.4740A>G	c.(4738-4740)gtA>gtG	p.V1580V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1580						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TACTACCAAATACTTGCTTTT	0.468000														151			62		0	0	0.014410	0	0
DCHS1	8642	broad.mit.edu	37	11	6648377	6648377	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:6648377G>A	uc001mem.1	-	13	6294	c.5893C>T	c.(5893-5895)Ctg>Ttg	p.L1965L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1965	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTAGGCGCAGAGGACTGGTG	0.617000														74			43		0	0	0.014410	0	0
PLK2	10769	broad.mit.edu	37	5	57750791	57750791	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:57750791A>C	uc003jrn.3	-	12	1993	c.1813T>G	c.(1813-1815)Tgg>Ggg	p.W605G	PLK2_uc021xyx.1_Missense_Mutation_p.W591G	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	605					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GATTTTAGCCACTGAAGGAGG	0.428000														129			75		0	0	0.014410	0	0
UBE3B	89910	broad.mit.edu	37	12	109926454	109926454	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:109926454G>A	uc001top.3	+	6	1128	c.525G>A	c.(523-525)tgG>tgA	p.W175*	UBE3B_uc001toq.3_Nonsense_Mutation_p.W175*|UBE3B_uc001tom.3_Nonsense_Mutation_p.W175*|UBE3B_uc001ton.3_Nonsense_Mutation_p.W175*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W175*|UBE3B_uc001tor.3_Nonsense_Mutation_p.W175*	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	175					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTTCAACGTGGAAAATTCTTC	0.458000														133			88		0	0	0.014410	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072568	34072568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:34072568G>A	uc002hjv.2	-	5	1976	c.1948C>T	c.(1948-1950)Cct>Tct	p.P650S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	650					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGTCATAAGGACCCCCAGGC	0.632000														97			84		0	0	0.014410	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791773	8791773	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:8791773T>A	uc002glt.3	-	9	1398	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	PIK3R5_uc010vuz.2_Missense_Mutation_p.E444V|PIK3R5_uc021tqc.1_Missense_Mutation_p.E58V|PIK3R5_uc010cob.2_Missense_Mutation_p.E58V|PIK3R5_uc010coa.2_Missense_Mutation_p.E58V|PIK3R5_uc002glu.4_Missense_Mutation_p.E58V	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	444					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGAGCTGCCCTCCAGGCTCCG	0.677000														5			9		0	0	0.006214	0	0
POU6F2	11281	broad.mit.edu	37	7	39491250	39491250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:39491250C>T	uc003thb.2	+	8	1495	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	POU6F2_uc022acb.1_Missense_Mutation_p.S451F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	451	Ser-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tcctcttcttcctcctcatcc	0.547000														10			6		0	0	0.001984	0	0
BTNL8	79908	broad.mit.edu	37	5	180326349	180326349	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:180326349G>A	uc003mmp.3	+	0	273	c.39G>A	c.(37-39)aaG>aaA	p.K13K	BTNL8_uc003mmq.3_Silent_p.K13K|BTNL8_uc010jll.3_Silent_p.K13K|BTNL8_uc011dhg.2_5'UTR|BTNL8_uc010jlm.3_Silent_p.K13K	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	13						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTCCTCAAGCTGGGATCAG	0.458000														136			105		0	0	0.014410	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813628	162813628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:162813628G>A	uc002ubx.4	+	19	2855	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	SLC4A10_uc010zcs.2_Missense_Mutation_p.E872K|SLC4A10_uc002uby.4_Missense_Mutation_p.E861K	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	891					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTAAAACTGGAATCAGAATG	0.478000														16			16		0	0	0.004990	0	0
SOGA1	140710	broad.mit.edu	37	20	35467644	35467644	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:35467644G>A	uc021wcx.1	-	1	1228	c.888C>T	c.(886-888)atC>atT	p.I296I	SOGA1_uc002xgd.1_Silent_p.I58I	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	58										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAGACCACGGATAAGCTCGC	0.657000														71			42		0	0	0.014410	0	0
MLX	6945	broad.mit.edu	37	17	40722080	40722080	+	Missense_Mutation	SNP	A	G	G	rs143736694		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:40722080A>G	uc002iag.3	+	6	784	c.719A>G	c.(718-720)aAc>aGc	p.N240S	MLX_uc002iaf.3_Missense_Mutation_p.N186S|MLX_uc002iah.3_Missense_Mutation_p.N156S	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA.	240					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTCAAGTTCAACGTGTTTCAA	0.537000														46			36		0	0	0.003271	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996436	140996436	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:140996436G>A	uc004fbt.3	+	3	3570	c.3246G>A	c.(3244-3246)agG>agA	p.R1082R	MAGEC1_uc010nsl.2_Silent_p.R149R|MAGEC1_uc022cfi.1_Silent_p.R741R	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1082	MAGE.						protein binding	p.R1082G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCATTAAGAGGAAAGTAGTAG	0.468000										HNSCC(15;0.026)				110			87		0	0	0.014410	0	0
FLNA	2316	broad.mit.edu	37	X	153582086	153582086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:153582086G>A	uc004fkk.2	-	35	5945	c.5696C>T	c.(5695-5697)tCt>tTt	p.S1899F	FLNA_uc011mzn.1_Intron|FLNA_uc010nuu.1_Missense_Mutation_p.S1891F	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1899					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATGGCCAGAGACAGGCCCCC	0.632000											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		8			7		0	0	0.001984	0	0
COG7	91949	broad.mit.edu	37	16	23424809	23424809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:23424809G>A	uc002dlo.3	-	9	1566	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	457					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCCTGGAAGAGGGAGTTGGGA	0.468000														50			43		0	0	0.011902	0	0
DEFA6	1671	broad.mit.edu	37	8	6782433	6782433	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:6782433G>A	uc003wqt.3	-	1	251	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATGGCAAGTGAAAGCCCTTG	0.493000														10			28		0	0	0.007291	0	0
PCDH18	54510	broad.mit.edu	37	4	138442574	138442574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:138442574G>A	uc003ihe.4	-	3	3404	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L	PCDH18_uc003ihf.4_Missense_Mutation_p.S998L|PCDH18_uc011cgz.2_Missense_Mutation_p.S217L|PCDH18_uc003ihg.4_Missense_Mutation_p.S785L|PCDH18_uc011cha.2_Missense_Mutation_p.S186L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1006	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTCATTTCCGAGAGCAGAGA	0.527000														24			25		0	0	0.007291	0	0
FOXR2	139628	broad.mit.edu	37	X	55650562	55650562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:55650562C>T	uc004duo.3	+	0	730	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	140					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGAGCAGTCTCCTTTACAGAA	0.517000														30			21		0	0	0.014323	0	0
MSX2P1	55545	broad.mit.edu	37	17	56235187	56235187	+	RNA	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:56235187C>T	uc002ivn.3	+	0		c.868C>T								Homo sapiens msh homeobox 2 pseudogene 1 (MSX2P1), non-coding RNA.																		TCAATAGACTCCATGATGGAT	0.532000														31			25		0	0	0.003954	0	0
CD84	8832	broad.mit.edu	37	1	160535385	160535385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:160535385C>T	uc001fwh.4	-	1	276	c.197G>A	c.(196-198)gGa>gAa	p.G66E	CD84_uc001fwf.4_Missense_Mutation_p.G66E|CD84_uc009wtn.3_Missense_Mutation_p.G66E|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.G66E|CD84_uc001fwj.3_Missense_Mutation_p.G66E|CD84_uc001fwk.3_Missense_Mutation_p.G66E	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	66					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGAGTCTCCTGGTGTTAC	0.428000														74			100		0	0	0.014410	0	0
SEPT6	23157	broad.mit.edu	37	X	118771077	118771077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:118771077G>A	uc004erv.3	-	6	1134	c.869C>T	c.(868-870)aCc>aTc	p.T290I	SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.T290I|SEPT6_uc004ert.3_Missense_Mutation_p.T290I|SEPT6_uc004eru.3_Missense_Mutation_p.T290I|SEPT6_uc004erw.3_Missense_Mutation_p.T232I|SEPT6_uc011mtv.1_Missense_Mutation_p.T232I|SEPT6_uc011mtw.1_Missense_Mutation_p.T320I	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	290					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCGGGTGTGGGTCTGCTCCCG	0.577000			T	MLL	AML									51			36		0	0	0.006999	0	0
ATG2A	23130	broad.mit.edu	37	11	64676581	64676581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:64676581C>T	uc001obx.3	-	15	2361	c.2246G>A	c.(2245-2247)tGg>tAg	p.W749*		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	749							protein binding	p.W749C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCCACCTCCCACTGTGTGCT	0.647000														32			13		0	0	0.003163	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249851	68249851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:68249851G>A	uc001xka.2	-	20	4157	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R1340C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1340					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCGGCCACGAAGTTCCTTC	0.592000														60			34		0	0	0.003755	0	0
MGAM	8972	broad.mit.edu	37	7	141802440	141802440	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:141802440G>A	uc003vwy.3	+	45	5340	c.5286G>A	c.(5284-5286)ggG>ggA	p.G1762G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1762	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418000														9			15		0	0	0.002450	0	0
VPS13D	55187	broad.mit.edu	37	1	12371558	12371558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:12371558C>T	uc001atv.3	+	27	6839	c.6698C>T	c.(6697-6699)tCc>tTc	p.S2233F	VPS13D_uc001atw.3_Missense_Mutation_p.S2233F|VPS13D_uc001atx.3_Missense_Mutation_p.S1421F|VPS13D_uc001aty.1_5'UTR	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2233					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCAATCTCTCCTCAGTCCAC	0.408000														37			34		0	0	0.003755	0	0
TSIX	9383	broad.mit.edu	37	X	73044289	73044289	+	RNA	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:73044289G>A	uc004ebn.2	+	0		c.32250G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		tTTGGCTGTGGCTAAATGAAA	0.343000														9			8		0	0	0.006214	0	0
FAM47C	442444	broad.mit.edu	37	X	37027258	37027258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:37027258C>T	uc004ddl.2	+	0	827	c.775C>T	c.(775-777)Cac>Tac	p.H259Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	259										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCACCTGGAGCC	0.617000														38			47		0	0	0.014410	0	0
QRICH1	54870	broad.mit.edu	37	3	49083867	49083867	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:49083867A>T	uc010hkq.3	-	5	1958	c.1662T>A	c.(1660-1662)tgT>tgA	p.C554*	QRICH1_uc003cvu.3_Nonsense_Mutation_p.C554*|QRICH1_uc003cvv.3_Nonsense_Mutation_p.C554*	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	554										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTTTTGAATACACAGGAAAA	0.388000														43			33		0	0	0.003271	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485997	169485997	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:169485997G>A	uc003ffs.2	-	1	717	c.342C>T	c.(340-342)aaC>aaT	p.N114N		NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Homo sapiens actin related protein M1 (ARPM1), mRNA.	114						cytoplasm|cytoskeleton											TCTGTTGCCGGTTGGCCAGTG	0.498000														5			20		0	0	0.008871	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960001	139960001	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:139960001G>A	uc011men.2	-	2	920	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_178448	NP_848543	Q86UD0	CI140_HUMAN	Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.	268						cytoplasm|nucleus											GGCCCAGGCGGCGCTGGCGCT	0.677000														6			23		0	0	0.002780	0	0
ZNF536	9745	broad.mit.edu	37	19	30934835	30934835	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:30934835C>T	uc002nsu.1	+	1	504	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ZNF536_uc010edd.1_Silent_p.D122D	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D122Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCGAGGACGACGCCCGCA	0.637000														38			11		0	0	0.013537	0	0
DFNB31	25861	broad.mit.edu	37	9	117168912	117168912	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:117168912G>A	uc004biy.4	-	8	1450	c.810C>T	c.(808-810)tcC>tcT	p.S270S	DFNB31_uc004bix.3_Silent_p.S302S|DFNB31_uc004biz.4_Silent_p.S653S|DFNB31_uc004bja.4_Silent_p.S653S	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	653					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGGGAGACGGAGGCATAGA	0.682000														16			42		0	0	0.011902	0	0
TCRA	0	broad.mit.edu	37	14	22476215	22476215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22476215G>A	uc001wcu.4	+	1	249	c.151G>A	c.(151-153)Gat>Aat	p.D51N	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.D51N|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		TGAAACCCGTGATACTACTTA	0.428000														21			17		0	0	0.004990	0	0
TIE1	7075	broad.mit.edu	37	1	43786956	43786956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:43786956C>T	uc001ciu.3	+	19	3301	c.3124C>T	c.(3124-3126)Ctt>Ttt	p.L1042F	TIE1_uc010oke.2_Missense_Mutation_p.L997F|TIE1_uc009vwq.3_Missense_Mutation_p.L998F|TIE1_uc010okg.2_Missense_Mutation_p.L687F|TIE1_uc021omo.1_Non-coding_Transcript	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	1042	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V1041V(1)|p.V1041F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTTGGAGTCCTTCTTTGGGA	0.552000														76			53		0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857890	9857890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:9857890G>A	uc010uym.2	-	13	3821	c.3511C>T	c.(3511-3513)Ccc>Tcc	p.P1171S	GRIN2A_uc002czo.4_Missense_Mutation_p.P1171S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P1014S|GRIN2A_uc002czr.4_Missense_Mutation_p.P1171S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1171					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTATGCAAGGGGTTCCGGTTC	0.542000														95			78		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	106926339	106926339	+	RNA	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:106926339G>A	uc021ser.1	-	325		c.11529C>T								Parts of antibodies, mostly variable regions.																		ACTAATAAGAGAGACCCACTC	0.517000														48			42		0	0	0.006999	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134715	13134715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:13134715G>A	uc002wod.1	+	9	1634	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	449					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCAGGAAATGGGATTCATTAT	0.423000														34			29		0	0	0.005443	0	0
POTEC	388468	broad.mit.edu	37	18	14534957	14534957	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:14534957A>C	uc010dln.3	-	3	1314	c.860T>G	c.(859-861)gTg>gGg	p.V287G	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	287										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAATTTCACCACTTGCTGTTT	0.289000														82			16		0	0	0.008740	0	0
CSPP1	79848	broad.mit.edu	37	8	68049808	68049808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:68049808C>T	uc003xxi.3	+	16	2066	c.2035C>T	c.(2035-2037)Cct>Tct	p.P679S	CSPP1_uc003xxg.1_Missense_Mutation_p.P671S|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.P644S|CSPP1_uc003xxk.3_Missense_Mutation_p.P350S	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	679						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGTGGTGCTCCTCTCAGGGA	0.338000														11			12		0	0	0.013537	0	0
INA	9118	broad.mit.edu	37	10	105048212	105048212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:105048212C>T	uc001kws.3	+	2	1335	c.1286C>T	c.(1285-1287)cCt>cTt	p.P429L		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	429	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTGCTCCCACCTAGAATCCTC	0.498000														11			47		0	0	0.014410	0	0
ANKFN1	162282	broad.mit.edu	37	17	54517700	54517700	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:54517700T>C	uc002iun.1	+	7	967	c.932T>C	c.(931-933)aTg>aCg	p.M311T		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	311	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAATGGAGTATGTCCGAAGAC	0.448000														53			46		0	0	0.014410	0	0
CES2	8824	broad.mit.edu	37	16	66975424	66975424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:66975424C>T	uc002eqr.3	+	6	2123	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	CES2_uc002eqq.3_Missense_Mutation_p.P375S|CES2_uc002eqs.3_Missense_Mutation_p.P218S	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	311					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CAAGATGATCCCCGGAGTGGT	0.567000														29			18		0	0	0.010504	0	0
DNAH10	196385	broad.mit.edu	37	12	124333344	124333344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:124333344G>A	uc001uft.4	+	32	5688	c.5663G>A	c.(5662-5664)cGa>cAa	p.R1888Q		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1888	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1888Q(1)|p.R480Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGTTTAATCGAATCGATGCT	0.517000														17			10		0	0	0.008291	0	0
FAM135A	57579	broad.mit.edu	37	6	71238106	71238106	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:71238106T>G	uc003pfj.3	+	13	3859	c.3726T>G	c.(3724-3726)gaT>gaG	p.D1242E	FAM135A_uc003pfi.3_Missense_Mutation_p.D1046E|FAM135A_uc003pfh.3_Missense_Mutation_p.D1029E|FAM135A_uc003pfl.3_Missense_Mutation_p.D909E|FAM135A_uc003pfn.3_Missense_Mutation_p.D448E|FAM135A_uc003pfo.1_Missense_Mutation_p.D613E|FAM135A_uc010kan.2_Missense_Mutation_p.D21E	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1242			D -> G (in dbSNP:rs2747701).							breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAAGAGGATGGTTCTGAAG	0.403000														32			24		0	0	0.002780	0	0
RERE	473	broad.mit.edu	37	1	8416175	8416175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:8416175G>A	uc001ape.3	-	21	5281	c.4471C>T	c.(4471-4473)Cgc>Tgc	p.R1491C	RERE_uc001apf.3_Missense_Mutation_p.R1491C|RERE_uc001apd.3_Missense_Mutation_p.R937C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1491	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGGGTGGCGAAGCATCTCG	0.632000														105			84		0	0	0.014410	0	0
BSND	7809	broad.mit.edu	37	1	55474160	55474160	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:55474160G>A	uc001cye.3	+	3	1065	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	274						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CAAGGACAAAGGTGGAGGAGA	0.597000														24			16		0	0	0.004007	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057665	63057665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:63057665G>A	uc009yor.3	+	0	236	c.28G>A	c.(28-30)Gtt>Att	p.V10I	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_5'Flank	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	10						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGAGTCAAGTTGGAGGCCT	0.438000														27			18		0	0	0.006122	0	0
F7	2155	broad.mit.edu	37	13	113771805	113771805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:113771805G>A	uc001vsv.3	+	7	751	c.700G>A	c.(700-702)Gga>Aga	p.G234R	F7_uc001vsw.3_Missense_Mutation_p.G212R|F7_uc010tjt.2_Missense_Mutation_p.G165R	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	234	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTTGGTGAATGGAGCTCAGTT	0.572000														54			49		0	0	0.014410	0	0
FAM188B	84182	broad.mit.edu	37	7	30962230	30962230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:30962230G>A	uc003tbv.2	+	2	711	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	FAM188B_uc011kac.1_Missense_Mutation_p.V261M|FAM188B_uc010kwf.1_Missense_Mutation_p.V118M|FAM188B_uc010kwh.1_Missense_Mutation_p.V150M|FAM188B_uc022abh.1_Missense_Mutation_p.V86M	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCTCCGCGGTGATCACACA	0.577000														131			112		0	0	0.014410	0	0
MARCO	8685	broad.mit.edu	37	2	119727775	119727775	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:119727775C>T	uc002tln.1	+	2	417	c.285C>T	c.(283-285)tcC>tcT	p.S95S	MARCO_uc010yyf.1_Silent_p.S17S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	95					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CGTCCTTCTCCTTGCTGCAGT	0.627000														34			38		0	0	0.006999	0	0
ACOX2	8309	broad.mit.edu	37	3	58517093	58517093	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:58517093C>T	uc003dkl.3	-	7	879	c.704_splice	c.e7-1	p.G235_splice		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	235					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AATGATGATTCCTTGAAGGAG	0.507000														28			14		0	0	0.002450	0	0
ADAP2	55803	broad.mit.edu	37	17	29261253	29261253	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:29261253C>T	uc010csk.3	+	4	745	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	ADAP2_uc002hfy.3_Silent_p.L150L|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.L150L	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	150	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTCACAGTTTCTGAGAAGGAA	0.483000														29			20		0	0	0.002780	0	0
CD101	9398	broad.mit.edu	37	1	117560848	117560848	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:117560848C>T	uc010oxb.1	+	5	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	CD101_uc009whd.3_Silent_p.S561S|CD101_uc010oxc.1_Silent_p.S561S|CD101_uc010oxd.1_Silent_p.S499S	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	561	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACCTGTCCTGTGTCGTGA	0.478000														17			14		0	0	0.004007	0	0
PHF3	23469	broad.mit.edu	37	6	64404537	64404537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:64404537C>T	uc003pep.1	+	4	2588	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	PHF3_uc010kaf.1_Missense_Mutation_p.P855S|PHF3_uc003pem.2_Missense_Mutation_p.P808S|PHF3_uc010kag.1_Missense_Mutation_p.P767S|PHF3_uc010kah.1_Missense_Mutation_p.P669S|PHF3_uc003pen.2_Missense_Mutation_p.P767S|PHF3_uc011dxs.1_Missense_Mutation_p.P124S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	855					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCAGCTAGCTCCTCTTCGTAA	0.378000														86			53		0	0	0.014410	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43577766	43577766	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:43577766G>A	uc002lbp.4	-	8	687	c.591C>T	c.(589-591)acC>acT	p.T197T	PSTPIP2_uc002lbq.4_Silent_p.T197T	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	197						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCTTATCCAGGGTGCCGATGT	0.587000														69			46		0	0	0.014410	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209439	44209439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:44209439C>T	uc002rtr.2	-	1	342	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LRPPRC_uc010yob.1_Intron|LRPPRC_uc010faw.1_Missense_Mutation_p.R69Q	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	95					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCAGTTCTTCGAACAGAAAG	0.378000														199			128		0	0	0.014410	0	0
LY6G6C	80740	broad.mit.edu	37	6	31686890	31686890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:31686890G>A	uc003nwh.3	-	2	416	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	121						anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCAGCCAGAGGCCAAGGCCA	0.607000														363			156		0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237798220	237798220	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:237798220G>A	uc001hyl.1	+	43	6840	c.6720G>A	c.(6718-6720)ctG>ctA	p.L2240L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2240	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	p.V2240L(1)		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)			CAACACCACTGGATGTGGCTG	0.423000														16			7		0	0	0.003080	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795544	142795544	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:142795544T>A	uc004fbz.3	-	1	888	c.134A>T	c.(133-135)aAa>aTa	p.K45I		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	45										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTATTGTTTTTGTCTTTTG	0.413000														43			26		0	0	0.004656	0	0
OR2F2	135948	broad.mit.edu	37	7	143633082	143633082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:143633082G>A	uc011ktv.2	+	0	757	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y252Y(1)		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)					CCTGTGCTACGGCACAACGAT	0.512000														11			75		0	0	0.014410	0	0
OR51F2	119694	broad.mit.edu	37	11	4843571	4843571	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:4843571A>G	uc010qyn.2	+	0	956	c.956A>G	c.(955-957)aAg>aGg	p.K319R		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I318I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATTATCAAGGTCTTAATT	0.368000														60			41		0	0	0.010771	0	0
STAB1	23166	broad.mit.edu	37	3	52547918	52547918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:52547918G>A	uc003dej.3	+	31	3442	c.3368G>A	c.(3367-3369)gGg>gAg	p.G1123E		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1123					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1122R(1)|p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCCCCCGAGGGGATGTGCCC	0.622000														108			56		0	0	0.014410	0	0
LPA	4018	broad.mit.edu	37	6	160998268	160998268	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:160998268G>A	uc003qtl.3	-	28	4651	c.4531C>T	c.(4531-4533)Cga>Tga	p.R1511*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4019	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1511L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATATGCCTCGATAACTCCGT	0.453000														13			52		0	0	0.014410	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946364	16946364	+	RNA	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:16946364G>A	uc010ocf.2	-	2		c.534C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TCTCGGCCAGGAGGAGGCCCT	0.657000														14			3		0	0	0.004672	0	0
PASD1	139135	broad.mit.edu	37	X	150832597	150832597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:150832597C>T	uc004fev.4	+	10	1180	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	283						nucleus	signal transducer activity	p.S283F(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCTTATCCTTGCAAGAC	0.473000														60			26		0	0	0.006320	0	0
PTPRT	11122	broad.mit.edu	37	20	40727111	40727111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:40727111C>T	uc002xkg.3	-	26	3980	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PTPRT_uc010ggj.3_Missense_Mutation_p.D1285N|PTPRT_uc010ggi.3_Missense_Mutation_p.D469N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1266	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D1288N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTTGTAATCGAACACCAGC	0.587000														18			35		0	0	0.004878	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996575	111996575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:111996575G>A	uc003dyu.3	-	4	673	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.P151S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	151					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.P151T(1)									GTTAGCATGGGATCTGAACTC	0.318000														35			46		0	0	0.014410	0	0
MOCS1	4337	broad.mit.edu	37	6	39895171	39895171	+	Silent	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:39895171G>A	uc003opb.3	-	0	285	c.147C>T	c.(145-147)ttC>ttT	p.F49F	MOCS1_uc003opa.3_Silent_p.F49F|MOCS1_uc003opd.3_Silent_p.F49F|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	49	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTCCCGCAGGAACTGCCTCC	0.657000														11			21		0	0	0.008871	0	0
ROBO4	54538	broad.mit.edu	37	11	124757060	124757060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124757060G>A	uc001qbg.3	-	14	2388	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	ROBO4_uc010sas.2_Missense_Mutation_p.P605S|ROBO4_uc001qbh.2_Missense_Mutation_p.P640S|ROBO4_uc001qbi.3_Missense_Mutation_p.P308S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	750	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ATGGGGATGGGGGCTGCTGGC	0.637000														42			41		0	0	0.006999	0	0
ZBTB11	27107	broad.mit.edu	37	3	101383815	101383815	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:101383815A>G	uc003dve.4	-	3	1846	c.1616T>C	c.(1615-1617)gTt>gCt	p.V539A		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACCTGTTGAACTGCTGACTT	0.398000														63			50		0	0	0.014410	0	0
FBXO38	81545	broad.mit.edu	37	5	147785841	147785841	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:147785841A>T	uc003lpf.1	+	6	872	c.752A>T	c.(751-753)tAt>tTt	p.Y251F	FBXO38_uc003lpg.1_Missense_Mutation_p.Y251F|FBXO38_uc003lph.2_Missense_Mutation_p.Y251F	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	251						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGAAATATGTCCCTTTA	0.358000														39			29		0	0	0.008361	0	0
LOC442132	442132	broad.mit.edu	37	5	7303853	7303853	+	RNA	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:7303853C>T	uc003jdy.2	-	4		c.501G>A								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		CTTCAAATTTCCTGGCAGCAT	0.502000														7			12		0	0	0.002450	0	0
PRDM1	639	broad.mit.edu	37	6	106552701	106552701	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:106552701A>T	uc003prd.2	+	5	899	c.665_splice	c.e5-1	p.T222_splice	PRDM1_uc003pre.3_Splice_Site_p.T88_splice	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	222					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T186fs*9(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TTATTTCAGCACAAACACAGA	0.428000			"""D, N, Mis, F, S"""		DLBCL									117			76		0	0	0.014410	0	0
SFMBT2	57713	broad.mit.edu	37	10	7230608	7230608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:7230608G>A	uc009xio.2	-	15	1877	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	SFMBT2_uc001ijn.2_Nonsense_Mutation_p.Q596*|SFMBT2_uc010qay.2_Nonsense_Mutation_p.Q431*	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	596					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCTCTTCCTGGAAATTCCAG	0.428000														11			36		0	0	0.006230	0	0
SGOL2	151246	broad.mit.edu	37	2	201438006	201438006	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:201438006C>T	uc002uvw.2	+	6	3050	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	SGOL2_uc010zhd.1_Silent_p.S979S|SGOL2_uc010zhe.1_Silent_p.S979S	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	979					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTTAGATTCCTACAAAGTAG	0.294000														32			21		0	0	0.010504	0	0
ERC2	26059	broad.mit.edu	37	3	56330286	56330286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:56330286G>A	uc021wzo.1	-	1	975	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	ERC2_uc003dhr.1_Missense_Mutation_p.L279F	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	279						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCCTCAAAAGGAACAGCTCC	0.493000														168			100		0	0	0.014410	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728345	104728345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:104728345G>A	uc004elz.1	+	5	1494	c.738G>A	c.(736-738)atG>atA	p.M246I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	246	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTCCCCATGGAGAATCAGC	0.413000														53			36		0	0	0.008740	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751744	140751744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140751744G>A	uc003ljw.2	+	0	1783	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.D595N|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	596	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGTGGACGCAGACTC	0.667000														55			32		0	0	0.013726	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223937	142223937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:142223937G>A	uc003vyi.2	-	1	247	c.230C>T	c.(229-231)tCa>tTa	p.S77L	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGCAACTGTGAATCATCTAC	0.517000														20			36		0	0	0.003755	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541288	178541288	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:178541288C>T	uc003mjw.3	-	21	3318	c.3216G>A	c.(3214-3216)agG>agA	p.R1072R		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1072	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGACTTCCATCCTACAGAATA	0.498000														22			20		0	0	0.014323	0	0
ZFHX3	463	broad.mit.edu	37	16	72992789	72992789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:72992789G>A	uc002fck.3	-	1	1929	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	419					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGCCCCAGGGGGACTGAGGT	0.637000														82			54		0	0	0.014410	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572100	76572100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:76572100C>T	uc002fex.1	+	17	3231	c.3092C>T	c.(3091-3093)gCt>gTt	p.A1031V	CNTNAP4_uc002feu.1_Missense_Mutation_p.A1027V|CNTNAP4_uc002fev.1_Missense_Mutation_p.A892V|CNTNAP4_uc010chb.1_Missense_Mutation_p.A955V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1028					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGCTCCCACGCTGCTTCATTT	0.363000														28			21		0	0	0.008871	0	0
DHX38	9785	broad.mit.edu	37	16	72142723	72142723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:72142723C>T	uc002fcb.3	+	23	3635	c.3280C>T	c.(3280-3282)Cgc>Tgc	p.R1094C	DHX38_uc010vmp.2_Missense_Mutation_p.R406C	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1094					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R1094L(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGTGAACATCCGCACAGGGAT	0.542000														17			9		0	0	0.004482	0	0
DOCK8	81704	broad.mit.edu	37	9	340242	340242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:340242C>T	uc003zgf.2	+	13	1712	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	DOCK8_uc011lls.1_Missense_Mutation_p.P534S|DOCK8_uc022bcu.1_Missense_Mutation_p.P466S|DOCK8_uc010mgv.3_Missense_Mutation_p.P466S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.P466S|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	534	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAACCCTTTCCTGAAAACCG	0.468000														12			35		0	0	0.004289	0	0
IQCA1	79781	broad.mit.edu	37	2	237272552	237272553	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:237272552_237272553CC>TT	uc002vwb.2	-	14	1797_1798	c.1763_1764GG>AA	c.(1762-1764)ggg>gAA	p.G588E	IQCA1_uc002vvz.1_Missense_Mutation_p.G580E|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G539E	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	580							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCATTTTCTTCCCTACCCCAGA	0.510000														44			29		0	0	0.004672	0	0
EFNA3	1944	broad.mit.edu	37	1	155039319	155039320	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155039319_155039320AC>TT	uc001fhc.3	+	1	314_315	c.227_228AC>TT	c.(226-228)tac>tTT	p.Y76F	EFNA3_uc010pew.2_Intron|LOC100505666_uc021pan.1_5'Flank|EFNA3_uc001fhd.3_Missense_Mutation_p.Y76F|EFNA3_uc001fhe.3_Missense_Mutation_p.Y76F	NM_182689	NP_872631	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA.	89					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTGCTTTGTACATGGTGGACT	0.629000														25			32		0	0	0.004672	0	0
APOB	338	broad.mit.edu	37	2	21238130	21238130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:21238130C>T	uc002red.3	-	22	3639	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1171					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E1171K(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTTCTCTTCATCTGAAAAT	0.408000														198			139		0	0	0.014410	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:12939636C>T	uc001aun.2	-	3	1237	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000														173			130		0	0	0.014410	0	0
CNR2	1269	broad.mit.edu	37	1	24202038	24202038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:24202038C>T	uc021oij.1	-	0	70	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CNR2_uc001bif.3_Missense_Mutation_p.D24N	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	24					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATCATGTAATCCTTCATAGGG	0.537000														73			60		0	0	0.014410	0	0
C4BPA	722	broad.mit.edu	37	1	207287489	207287489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:207287489G>A	uc001hfo.3	+	2	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	63	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478000														113			53		0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:176526002G>A	uc001gkz.3	+	1	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	182					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E182K(3)|p.E182*(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCCTGAACGAACCCAAACC	0.587000														60			108		0	0	0.014410	0	0
TDG	6996	broad.mit.edu	37	12	104373635	104373635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:104373635C>T	uc001tkg.3	+	2	416	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	TDG_uc010swh.1_Missense_Mutation_p.P65S|TDG_uc009zuk.3_Missense_Mutation_p.P61S|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	65					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAGAAAACCCAGAACAAC	0.333000								Base excision repair (BER), DNA glycosylases						31			4		0	0	0.009096	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626256	41626256	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:41626256C>T	uc002opu.1	+	3	395	c.339C>T	c.(337-339)atC>atT	p.I113I	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Silent_p.I113I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	113					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCCCAGGCATCGCCTTCTCCA	0.552000														40			117		0	0	0.014410	0	0
CFH	3075	broad.mit.edu	37	1	196706034	196706034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:196706034G>A	uc001gtj.4	+	15	2734	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	832	Sushi 14.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATCGGGATGGAGAAAAAGT	0.358000														13			22		0	0	0.002780	0	0
IQCA1	79781	broad.mit.edu	37	2	237396737	237396737	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:237396737T>C	uc002vwb.2	-	3	609	c.575A>G	c.(574-576)aAg>aGg	p.K192R	IQCA1_uc002vvz.1_Missense_Mutation_p.K185R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.K185R	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	185							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATAGATTTGCTTCATGAATAA	0.453000														6			4		0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140810729	140810729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140810729G>A	uc003lkt.2	+	0	572	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.E135K	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	135	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTTCGTGAAAGTGAATT	0.413000														99			40		0	0	0.007835	0	0
SF3A2	8175	broad.mit.edu	37	19	2243473	2243473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:2243473C>T	uc002lvg.3	+	1	178	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	19					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCTCCTCCTCCGAGAGC	0.672000														45			36		0	0	0.007835	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														118			104		0	0	0.014410	0	0
OR10T2	128360	broad.mit.edu	37	1	158369042	158369042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:158369042G>A	uc010pih.2	-	0	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGTGTAGCAGGACTCAGAAAA	0.502000														21			36		0	0	0.004289	0	0
SCN5A	6331	broad.mit.edu	37	3	38620851	38620851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:38620851C>T	uc021wvo.1	-	16	3416	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.E988K|SCN5A_uc021wvw.1_Missense_Mutation_p.E732K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1122					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCTGGGGTTCCGCTTTCCAC	0.657000														6			5		0	0	0.000602	0	0
LOC399753	399753	broad.mit.edu	37	10	49218498	49218498	+	Silent	SNP	A	G	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:49218498A>G	uc001jgd.3	-	7	1800	c.1641T>C	c.(1639-1641)tcT>tcC	p.S547S	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GCTGGCCCAGAGACAGCTCAG	0.582000														64			5		0	0	0.008291	0	0
CHIA	27159	broad.mit.edu	37	1	111854982	111854982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:111854982C>T	uc001eas.3	+	3	383	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_Intron|CHIA_uc009wgc.3_Intron|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_Intron|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	76					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.L76V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.453000														43			33		0	0	0.004878	0	0
MXRA8	54587	broad.mit.edu	37	1	1290450	1290450	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:1290450C>T	uc001aex.4	-	4	592	c.561G>A	c.(559-561)gtG>gtA	p.V187V	MXRA8_uc001aew.3_Silent_p.V187V|MXRA8_uc001aey.4_Silent_p.V187V|MXRA8_uc001aez.3_Silent_p.V86V|MXRA8_uc001afa.3_Silent_p.V178V	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	187	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCCGCGGTTCACGCAGGTCA	0.766000														3			7		0	0	0.008291	0	0
MSRA	4482	broad.mit.edu	37	8	10159066	10159066	+	Silent	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:10159066C>T	uc003wsx.3	+	3	551	c.354C>T	c.(352-354)gtC>gtT	p.V118V	MSRA_uc011kwx.2_Silent_p.V78V|MSRA_uc011kwy.1_Silent_p.V75V|MSRA_uc003wsy.3_Silent_p.V52V|MSRA_uc003wsz.3_Silent_p.V75V	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	118					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGCAGAAGTCGTCCGAGTGG	0.428000														8			21		0	0	0.012319	0	0
HBB	3043	broad.mit.edu	37	11	5247992	5247992	+	Missense_Mutation	SNP	C	T	T	rs41417446		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:5247992C>T	uc001mae.1	-	1	180	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	44			E -> Q (in Hoshida/Chaya).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCAAAGGACTCAAAGAACCTC	0.527000									Sickle Cell Trait					34			28		0	0	0.009535	0	0
GPR98	84059	broad.mit.edu	37	5	89979464	89979464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:89979464C>T	uc003kju.3	+	27	5822	c.5726C>T	c.(5725-5727)cCt>cTt	p.P1909L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1909					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACTCTGATCCTGATGGTGAT	0.413000														15			11		0	0	0.010729	0	0
LILRB4	11006	broad.mit.edu	37	19	55179188	55179188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:55179188G>A	uc002qgp.3	+	10	1506	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	LILRB4_uc002qgq.3_Missense_Mutation_p.E381K|LILRB4_uc010ert.3_Missense_Mutation_p.E423K|LILRB4_uc010eru.3_Missense_Mutation_p.E412K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	382						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGTCTGGGGAATTCCTGGA	0.592000														71			13		0	0	0.002450	0	0
SNX13	23161	broad.mit.edu	37	7	17833866	17833866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:17833866G>A	uc003stv.3	-	25	2890	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	SNX13_uc010kuc.3_Missense_Mutation_p.R690C|SNX13_uc003stw.1_3'UTR|SNX13_uc010kub.3_Missense_Mutation_p.R299C	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	904					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCAAAAACACGAAGAATACCT	0.363000														18			11		0	0	0.008291	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	43	---	---	9	---					
OR2T29	343563	broad.mit.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	CG	CG			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:248722428_248722429insCG	uc001ieo.2	-	0	364_365	c.364_365insCG	c.(364-366)atgfs	p.M122fs		NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 29 (OR2T29), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|lung(4)	5	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)			GTCATAGGCCATGGTGGCTAGA	0.540													---	4	---	---	3	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	-	-	rs59413596		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													---	10	---	---	6	---					
TYR	7299	broad.mit.edu	37	11	88911404	88911412	+	In_Frame_Del	DEL	TTCATGGGA	-	-	rs61753252		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:88911404_88911412delTTCATGGGA	uc001pcs.3	+	0	365_373	c.283_291delTTCATGGGA	c.(283-291)ttcatgggadel	p.FMG95del		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	95					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTCTGGCAACTTCATGGGATTCAACTGTG	0.507													---	32	---	---	12	---					
BC067347	0	broad.mit.edu	37	17	20744542	20744546	+	RNA	DEL	CGCAC	-	-			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:20744542_20744546delCGCAC	uc010crb.2	+	0		c.202_206delCGCAC								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		CCTCCTCGGGCGCACCGCACCCGGG	0.722													---	10	---	---	9	---					
