Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CD163	9332	broad.mit.edu	37	12	7635321	7635321	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:7635321C>T	ENST00000359156.4	-	14	3367	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	CD163_ENST00000432237.2_Silent_p.G1055G|CD163_ENST00000396620.3_Silent_p.G1088G|CD163_ENST00000541972.1_Silent_p.G1043G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1055					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						CCCCAAGGATCCCGACTGCAA	0.428000													16	49					0	0	0.003163	0	0
F5	2153	broad.mit.edu	37	1	169541540	169541540	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:169541540T>C	ENST00000367796.3	-	3	493	c.292A>G	c.(292-294)Ata>Gta	p.I98V	F5_ENST00000546081.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.I98V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	98	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAACTTTTATGATGTCTCCG	0.353000													4	23					0	0	0.000602	0	0
ZNF106	64397	broad.mit.edu	37	15	42743543	42743543	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:42743543G>C	ENST00000263805.4	-	2	1184	c.858C>G	c.(856-858)gaC>gaG	p.D286E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TACCAAGTTTGTCATTTTCTT	0.383000													3	59					0	0	0.000602	0	0
GFRA3	2676	broad.mit.edu	37	5	137589782	137589782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:137589782G>A	ENST00000274721.3	-	5	1099	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	GFRA3_ENST00000378362.3_Nonsense_Mutation_p.Q254*	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	285					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATCTGGACTGCTCTGTTGCA	0.522000													8	57					0	0	0.006214	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:122634365C>T	ENST00000195173.4	-	14	2213	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607000													5	39					0	0	0.000602	0	0
OR51I1	390063	broad.mit.edu	37	11	5461848	5461848	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:5461848C>T	ENST00000380211.1	-	1	896	c.897G>A	c.(895-897)aaG>aaA	p.K299K	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGGATCTCCTTGGTTTTCA	0.473000													5	43					0	0	0.000602	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442137	103442137	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:103442137G>A	ENST00000361246.2	-	11	1679	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	464					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGTCTGGGTGGACTCTGAGGG	0.602000													15	155					0	0	0.006122	0	0
C1orf200	644997	broad.mit.edu	37	1	9713874	9713874	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:9713874G>T	ENST00000377320.3	-	2	616	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTTGGCTGGTGAGAGGCCT	0.512000													12	115					1.05317e-09	1.51927e-09	0.002450	1	0
GBA3	57733	broad.mit.edu	37	4	22737622	22737622	+	RNA	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:22737622G>A	ENST00000503442.1	+	0	168				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATGCAGATGGAAAAGGCCCT	0.443000													5	20					0	0	0.000602	0	0
ZNF770	54989	broad.mit.edu	37	15	35274830	35274830	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:35274830C>T	ENST00000356321.4	-	3	1150	c.806G>A	c.(805-807)gGt>gAt	p.G269D		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTTTCAAAACCACCCTGATT	0.388000													11	23					0	0	0.008291	0	0
ADPRH	141	broad.mit.edu	37	3	119305195	119305195	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:119305195C>T	ENST00000478399.1	+	3	1767	c.362C>T	c.(361-363)cCc>cTc	p.P121L	ADPRH_ENST00000478927.1_Missense_Mutation_p.P121L|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.P121L|ADPRH_ENST00000357003.3_Missense_Mutation_p.P121L			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	121					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.P121L(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGGAGGATTCCCTTCAACAGC	0.602000													14	92					0	0	0.003163	0	0
LIMCH1	22998	broad.mit.edu	37	4	41607936	41607936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:41607936G>A	ENST00000313860.7	+	6	455	c.401G>A	c.(400-402)gGa>gAa	p.G134E	LIMCH1_ENST00000511496.1_5'UTR|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G134E|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G134E|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G134E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G134E|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000509638.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	134					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TACTGGCTGGGAAAAGCAGCA	0.428000													4	30					0	0	0.001168	0	0
SOGA2	23255	broad.mit.edu	37	18	8784400	8784400	+	Missense_Mutation	SNP	C	C	G	rs145456770		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr18:8784400C>G	ENST00000359865.3	+	6	1432	c.1290C>G	c.(1288-1290)agC>agG	p.S430R	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Missense_Mutation_p.S790R|SOGA2_ENST00000400050.3_Missense_Mutation_p.S430R|SOGA2_ENST00000517570.1_Missense_Mutation_p.S430R	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	781																	GCTTCGGGAGCGGGAAGCCAT	0.657000													5	64					0	0	0.001168	0	0
SNX31	169166	broad.mit.edu	37	8	101625250	101625250	+	Missense_Mutation	SNP	G	G	A	rs146603887	byFrequency	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:101625250G>A	ENST00000311812.2	-	6	646	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	SNX31_ENST00000428383.2_Missense_Mutation_p.R67W	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	166					cell communication|protein transport		phosphatidylinositol binding	p.R166W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTGCCAAACCGAATGAGAAAG	0.493000													10	53					0	0	0.008291	0	0
PDE7A	5150	broad.mit.edu	37	8	66631584	66631584	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:66631584T>C	ENST00000401827.3	-	13	1833	c.1390A>G	c.(1390-1392)Act>Gct	p.T464A	PDE7A_ENST00000379419.4_Missense_Mutation_p.T438A	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	464						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GCAGCATCAGTGTCCTCACTG	0.483000													8	43					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9076839	9076839	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:9076839G>A	ENST00000397910.4	-	3	10810	c.10607C>T	c.(10606-10608)cCa>cTa	p.P3536L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3536L(2)		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						GGAGATACCTGGAGTAGGAGC	0.537000													6	119					0	0	0.003080	0	0
EP400	57634	broad.mit.edu	37	12	132551950	132551950	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:132551950G>A	ENST00000333577.4	+	51	9010	c.8901G>A	c.(8899-8901)ctG>ctA	p.L2967L	EP400_ENST00000332482.4_Silent_p.L2894L|EP400_ENST00000330386.6_Silent_p.L2850L|EP400_ENST00000389561.2_Silent_p.L2931L|EP400_ENST00000389562.2_Silent_p.L2930L			Q96L91	EP400_HUMAN	E1A binding protein p400	2967					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCAGCTGCTGAAGCTGAAGC	0.642000													9	73					0	0	0.004482	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:23966723G>A	ENST00000335694.4	-	3	498	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_ENST00000286890.4_Silent_p.F98F|GGTLC1_ENST00000278765.4_Silent_p.F98F	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000													16	70					0	0	0.004007	0	0
CEL	1056	broad.mit.edu	37	9	135940463	135940463	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:135940463G>A	ENST00000372080.4	+	4	402	c.386G>A	c.(385-387)gGa>gAa	p.G129E	CEL_ENST00000351304.7_Missense_Mutation_p.G126E	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	126					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGATCTATGGAGGCGCCTTC	0.647000													53	284					0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38991760	38991760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:38991760C>T	ENST00000302328.3	-	1	292	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	SCN11A_ENST00000456224.3_Missense_Mutation_p.A32T|SCN11A_ENST00000444237.2_Missense_Mutation_p.A32T|SCN11A_ENST00000450244.1_Missense_Mutation_p.A32T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	32					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)	TTTTGGATGGCAATCCGCTTC	0.512000													41	89					0	0	0.007835	0	0
TLR4	7099	broad.mit.edu	37	9	120475753	120475753	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:120475753C>T	ENST00000355622.6	+	3	1448	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L409L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	449					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L449L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCAGAAACCTCATTTACCTTG	0.393000													13	38					0	0	0.001855	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873824	48873824	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:48873824G>A	ENST00000394754.1	+	8	2847	c.2733G>A	c.(2731-2733)agG>agA	p.R911R	STON1-GTF2A1L_ENST00000405008.1_Silent_p.R911R|GTF2A1L_ENST00000403751.3_Silent_p.R207R|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R911R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R911R|GTF2A1L_ENST00000430487.2_Silent_p.R173R|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R864R	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		864					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGTAGATAGGAAACACTTAG	0.413000													6	39					0	0	0.001168	0	0
PRDX6	9588	broad.mit.edu	37	1	173450482	173450482	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:173450482C>T	ENST00000340385.5	+	2	245	c.113C>T	c.(112-114)tCc>tTc	p.S38F	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	38	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ATTCTCTTCTCCCACCCTCGG	0.453000													14	55					0	0	0.006122	0	0
TRH	7200	broad.mit.edu	37	3	129695631	129695631	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:129695631G>A	ENST00000302649.3	+	3	828	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TRH_ENST00000507066.1_Missense_Mutation_p.E97K	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	101					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						tgaagaagaggaagaggaaga	0.567000													5	39					0	0	0.001168	0	0
SPEF2	79925	broad.mit.edu	37	5	35691304	35691304	+	Silent	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:35691304T>C	ENST00000440995.2	+	11	1690	c.1690T>C	c.(1690-1692)Tta>Cta	p.L564L	SPEF2_ENST00000509059.1_Silent_p.L564L|SPEF2_ENST00000356031.3_Silent_p.L564L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	564					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAAGGATGCTTATTGGGGAA	0.398000													10	57					0	0	0.008291	0	0
BUB1B	701	broad.mit.edu	37	15	40493133	40493133	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:40493133G>A	ENST00000287598.6	+	12	1714	c.1517_splice	c.e12-1	p.E507_splice	BUB1B_ENST00000412359.3_Splice_Site_p.E521_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	507					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTTTACAGAGAAACTTCACT	0.328000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				24	47					0	0	0.008361	0	0
ETV3L	440695	broad.mit.edu	37	1	157062688	157062688	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:157062688G>A	ENST00000454449.2	-	5	1123	c.839C>T	c.(838-840)gCc>gTc	p.A280V		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	280	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AAAATGCCAGGCCCCTGGGAG	0.637000													9	27					0	0	0.004482	0	0
SIN3B	23309	broad.mit.edu	37	19	16974538	16974538	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:16974538C>T	ENST00000379803.1	+	11	1424	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	SIN3B_ENST00000595541.1_Silent_p.S28S|SIN3B_ENST00000248054.5_Silent_p.S438S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	470	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAGGACTCCACGTTCGTCA	0.607000													10	54					0	0	0.006214	0	0
TTC29	83894	broad.mit.edu	37	4	147724715	147724715	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:147724715C>T	ENST00000513335.1	-	12	1501	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000325106.4_Missense_Mutation_p.M408I|TTC29_ENST00000398886.4_Missense_Mutation_p.M434I			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	408							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTGTAAGCATCATCTGATGAG	0.433000													3	16					0	0	0.004672	0	0
DECR1	1666	broad.mit.edu	37	8	91029366	91029366	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:91029366G>A	ENST00000522161.1	+	4	740	c.57G>A	c.(55-57)ggG>ggA	p.G19G	DECR1_ENST00000220764.2_Silent_p.G28G|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	28					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTTATGGGACAAAAATAT	0.279000													5	35					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417836	25417836	+	RNA	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:25417836C>T	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							ACTTAAAAATCATGCTCAATA	0.527000													40	106					0	0	0.010771	0	0
OR10H3	26532	broad.mit.edu	37	19	15852520	15852520	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:15852520C>T	ENST00000305892.1	+	1	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCTTCTCCTTCATGTTTGGCT	0.502000													35	188					0	0	0.003271	0	0
ZNF318	24149	broad.mit.edu	37	6	43306850	43306850	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:43306850T>G	ENST00000361428.2	-	10	4963	c.4886A>C	c.(4885-4887)cAa>cCa	p.Q1629P	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1629					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACCCTCATCTTGATGCAACTC	0.458000													47	107					0	0	0.014410	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273926	18273926	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:18273926G>T	ENST00000593731.1	+	10	1819	c.1259G>T	c.(1258-1260)cGg>cTg	p.R420L	PIK3R2_ENST00000222254.7_Missense_Mutation_p.R420L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	420	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CTGGACACACGGCTCCTCTAC	0.592000													3	17					0.004672	0.00656232	0.004672	1	0
SCN3A	6328	broad.mit.edu	37	2	166019265	166019265	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:166019265G>A	ENST00000360093.3	-	8	1259	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SCN3A_ENST00000409101.3_Silent_p.F256F|SCN3A_ENST00000283254.7_Silent_p.F256F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	256						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGCTCAGACAGAACACAGTCA	0.478000													5	62					0	0	0.000602	0	0
SHQ1	55164	broad.mit.edu	37	3	72881533	72881533	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:72881533G>A	ENST00000325599.8	-	5	725	c.586C>T	c.(586-588)Cct>Tct	p.P196S	SHQ1_ENST00000463369.1_Missense_Mutation_p.P168S	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	196					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TAATGATCAGGATCAAACTTG	0.383000													31	80					0	0	0.012213	0	0
MYH2	4620	broad.mit.edu	37	17	10433034	10433034	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:10433034C>T	ENST00000245503.5	-	24	3348	c.2964G>A	c.(2962-2964)atG>atA	p.M988I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M988I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	988					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAGACCTGCCATCTCTTCTG	0.498000													20	105					0	0	0.003954	0	0
MYO7A	4647	broad.mit.edu	37	11	76872132	76872132	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:76872132C>T	ENST00000409709.3	+	12	1586	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	MYO7A_ENST00000409619.2_Silent_p.I427I|MYO7A_ENST00000409893.1_Silent_p.I438I|MYO7A_ENST00000458637.2_Silent_p.I438I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	438	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTGGACATCTTTGGGTTTG	0.507000													6	34					0	0	0.004482	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672656	77672656	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:77672656G>A	ENST00000407578.2	-	56	8899	c.8633C>T	c.(8632-8634)cCa>cTa	p.P2878L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2840L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P2840L|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.P363L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGGGTATCTGGATCAAGTGT	0.433000													7	32					0	0	0.001984	0	0
OTOL1	131149	broad.mit.edu	37	3	161214732	161214732	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:161214732C>T	ENST00000327928.4	+	1	137	c.137C>T	c.(136-138)cCa>cTa	p.P46L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	46						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGTCTAAAGCCATCCAGTGGC	0.443000													6	22					0	0	0.001168	0	0
SF3B1	23451	broad.mit.edu	37	2	198257122	198257122	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:198257122T>A	ENST00000335508.5	-	25	3911	c.3820A>T	c.(3820-3822)Att>Ttt	p.I1274F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1274					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGGAACCAATGTAGATGGAG	0.343000			Mis		myelodysplastic syndrome								3	31					0	0	0.004672	0	0
NRK	203447	broad.mit.edu	37	X	105142616	105142616	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:105142616G>A	ENST00000428173.2	+	8	923	c.620G>A	c.(619-621)gGa>gAa	p.G207E	NRK_ENST00000243300.9_Missense_Mutation_p.G207E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	207	Protein kinase.						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						AGAACTAATGGAAGAAGGAAT	0.403000										HNSCC(51;0.14)			7	7					0	0	0.001984	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830847	22830847	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:22830847G>A	ENST00000376573.4	-	8	1150	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.H249Y|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.H168Y	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	308	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCCACCGGGTGGGTGCCATCG	0.602000													6	48					0	0	0.001168	0	0
AGBL1	123624	broad.mit.edu	37	15	86822934	86822934	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:86822934A>G	ENST00000441037.2	+	15	2097	c.2002A>G	c.(2002-2004)Acc>Gcc	p.T668A	AGBL1_ENST00000421325.2_Missense_Mutation_p.T668A|AGBL1_ENST00000389298.3_Missense_Mutation_p.T399A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	668					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTATACCCTCACCTTTGCTGT	0.488000													16	86					0	0	0.004007	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404651	103404651	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:103404651G>A	ENST00000361246.2	-	35	5213	c.4925C>T	c.(4924-4926)cCc>cTc	p.P1642L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1642					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACCTGATGAGGGCCACGAGAT	0.667000													7	91					0	0	0.003080	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761935	92761935	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:92761935G>A	ENST00000318238.4	-	5	4566	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1117F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1117F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1117										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAATATAGGAATTTTTAGG	0.383000													19	65					0	0	0.008871	0	0
NOD2	64127	broad.mit.edu	37	16	50763802	50763802	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:50763802C>T	ENST00000300589.2	+	11	3145	c.3040C>T	c.(3040-3042)Ctg>Ttg	p.L1014L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1014					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGACACCATCCTGGAAGTCTG	0.507000													4	41					0	0	0.009096	0	0
ZNF326	284695	broad.mit.edu	37	1	90473104	90473104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:90473104C>T	ENST00000340281.4	+	5	553	c.410C>T	c.(409-411)tCc>tTc	p.S137F	ZNF326_ENST00000370447.2_Intron|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	137	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GCACCTTACTCCCGTTCAAAA	0.498000													10	52					0	0	0.006214	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817457	26817457	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:26817457G>T	ENST00000444914.3	+	3	784	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000537681.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	73						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCTCAGCCATGTCTCCACCTG	0.617000													9	103					5.68852e-11	8.2339e-11	0.004482	1	0
NEK3	4752	broad.mit.edu	37	13	52709904	52709904	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:52709904G>A	ENST00000452082.2	-	12	2512	c.1282C>T	c.(1282-1284)Ctc>Ttc	p.L428F	NEK3_ENST00000339406.3_Missense_Mutation_p.L424F|NEK3_ENST00000378101.2_Missense_Mutation_p.L424F|NEK3_ENST00000400357.2_Missense_Mutation_p.L407F			P51956	NEK3_HUMAN	NIMA-related kinase 3	424					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCAAGCTGAGATCAGCATTC	0.378000													6	48					0	0	0.001168	0	0
DPY19L3	147991	broad.mit.edu	37	19	32923671	32923671	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:32923671C>T	ENST00000342179.5	+	4	502	c.287C>T	c.(286-288)tCc>tTc	p.S96F	DPY19L3_ENST00000392250.2_Missense_Mutation_p.S96F|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S96F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	96						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGTATTACTCCTACTACAAG	0.398000													9	39					0	0	0.008291	0	0
CCDC110	256309	broad.mit.edu	37	4	186381342	186381342	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:186381342A>C	ENST00000307588.3	-	6	474	c.399T>G	c.(397-399)ttT>ttG	p.F133L	CCDC110_ENST00000393540.3_Missense_Mutation_p.F96L|CCDC110_ENST00000510617.1_Missense_Mutation_p.F133L|CCDC110_ENST00000507501.1_5'UTR	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	133						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGGAATCCTCAAAATGATGAC	0.363000													4	44					0	0	0.009096	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325072	52325072	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:52325072C>T	ENST00000354773.4	+	3	570	c.474C>T	c.(472-474)atC>atT	p.I158I	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000436784.2_Silent_p.I158I|GLYCTK_ENST00000471180.1_Silent_p.I31I|GLYCTK_ENST00000477382.1_Silent_p.I158I|GLYCTK_ENST00000461183.1_Silent_p.I74I|GLYCTK_ENST00000305690.8_Silent_p.I158I|GLYCTK_ENST00000473032.1_Silent_p.I158I	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	158					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CACTGGCCATCCAGCAACTGG	0.622000													8	23					0	0	0.004482	0	0
EP400	57634	broad.mit.edu	37	12	132562000	132562000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:132562000C>T	ENST00000333577.4	+	54	9371	c.9262C>T	c.(9262-9264)Cag>Tag	p.Q3088*	EP400_ENST00000332482.4_Nonsense_Mutation_p.Q3015*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q2971*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q3052*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q3051*			Q96L91	EP400_HUMAN	E1A binding protein p400	3088					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCAGGTGCAGATGATCCC	0.627000													6	63					0	0	0.001984	0	0
RIMS1	22999	broad.mit.edu	37	6	72806812	72806812	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:72806812C>T	ENST00000264839.7	+	3	406	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	RIMS1_ENST00000518273.1_Missense_Mutation_p.R136C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R136C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R136C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R136C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R136C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	136	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCCTATTGTCGCACTAAGTT	0.512000													18	48					0	0	0.004990	0	0
EDEM2	55741	broad.mit.edu	37	20	33719456	33719456	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:33719456G>A	ENST00000540582.1	-	11	1431	c.710C>T	c.(709-711)gCc>gTc	p.A237V	EDEM2_ENST00000374492.3_Missense_Mutation_p.A278V|EDEM2_ENST00000542871.1_Missense_Mutation_p.A2V|EDEM2_ENST00000541621.1_Missense_Mutation_p.A57V|EDEM2_ENST00000374491.2_Missense_Mutation_p.A241V			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	278					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TAGGAACATGGCCATGAGCTT	0.468000													54	161					0	0	0.014410	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550546	22550546	+	RNA	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:22550546C>T	ENST00000390285.2	+	0	309																											TAACCAAAGACCCTCTGGGGT	0.587000													12	39					0	0	0.001855	0	0
AGXT	189	broad.mit.edu	37	2	241808729	241808729	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:241808729G>A	ENST00000307503.3	+	2	695	c.308G>A	c.(307-309)gGg>gAg	p.G103E		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	103					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCCTGGTTGGGGCCAATGGC	0.642000													5	81					0	0	0.001168	0	0
CHUK	1147	broad.mit.edu	37	10	101978865	101978865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:101978865G>A	ENST00000370397.7	-	7	675	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	197	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GCTGTGTAAGGCTTATTCTCA	0.393000													5	60					0	0	0.001168	0	0
JADE3	9767	broad.mit.edu	37	X	46887370	46887370	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:46887370C>T	ENST00000218343.4	+	6	850	c.552C>T	c.(550-552)aaC>aaT	p.N184N	PHF16_ENST00000397189.1_Silent_p.N184N	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		184					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAAATATGAACCATGCTATTG	0.438000													11	56					0	0	0.008291	0	0
ADAM10	102	broad.mit.edu	37	15	58925492	58925492	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:58925492G>A	ENST00000260408.3	-	9	1522	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.T59I	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	360	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATAATTCCAGTGTTTAAGGA	0.368000													4	29					0	0	0.009096	0	0
GLYCTK	132158	broad.mit.edu	37	3	52327144	52327144	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:52327144G>A	ENST00000305690.8	+	6	1194	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000436784.2_3'UTR|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000471180.1_Missense_Mutation_p.M239I|GLYCTK_ENST00000461183.1_Missense_Mutation_p.M282I|GLYCTK_ENST00000473032.1_Missense_Mutation_p.M204I	NM_145262.3	NP_660305.2	Q8IVS8	GLCTK_HUMAN	glycerate kinase	0					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCTCGGTGATGGCATAGGTCA	0.582000													12	15					0	0	0.001855	0	0
DEPTOR	64798	broad.mit.edu	37	8	121061853	121061853	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:121061853C>T	ENST00000286234.5	+	9	1270	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	DEPTOR_ENST00000523492.1_Silent_p.V279V	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	380	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GGCTCAATGTCCTGCATGTAG	0.493000													21	75					0	0	0.014323	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:248004713C>T	ENST00000355784.2	-	1	541	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(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)			ACCTGGAAATCATCAGGGAAG	0.557000													11	62					0	0	0.010729	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180696	142180696	+	RNA	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142180696G>A	ENST00000390368.2	-	0	228																											GGGTCTTGTCGATACCAGGAC	0.507000													35	431					0	0	0.004289	0	0
CD1B	910	broad.mit.edu	37	1	158299174	158299174	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:158299174A>T	ENST00000368168.3	-	4	979	c.872T>A	c.(871-873)aTc>aAc	p.I291N		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	291	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GTAGAGGATGATGTCCTGGCC	0.557000													5	50					0	0	0.001168	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533019	166533019	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:166533019C>T	ENST00000314499.7	+	6	982	c.606C>T	c.(604-606)ctC>ctT	p.L202L	CSRNP3_ENST00000409420.1_Silent_p.L234L|CSRNP3_ENST00000342316.4_Silent_p.L202L	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	202					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCACGAACTCCGAGCCATCC	0.527000													19	60					0	0	0.007413	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040065	129040065	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:129040065G>A	ENST00000274487.4	+	21	3420	c.3275G>A	c.(3274-3276)cGa>cAa	p.R1092Q	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1092	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATGTGTGGCGAATGGGTGAC	0.453000													9	44					0	0	0.006214	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692808	23692808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:23692808C>T	ENST00000397312.2	-	7	1101	c.827G>A	c.(826-828)tGg>tAg	p.W276*	ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.W263*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.W276*|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.W306*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.W276*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	276	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAATATACACCACCCTGTTCC	0.468000													7	23					0	0	0.001984	0	0
CFAP54	144535	broad.mit.edu	37	12	97147663	97147663	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:97147663C>T	ENST00000524981.3	+	23	3180	c.3180C>T	c.(3178-3180)atC>atT	p.I1060I				Q6ZTY8	CL063_HUMAN		1034										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGCTGAAATCCTTTTTCAGA	0.418000													8	24					0	0	0.006214	0	0
MMEL1	79258	broad.mit.edu	37	1	2530140	2530140	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:2530140G>A	ENST00000288709.6	-	12	1344	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	MMEL1_ENST00000502556.1_Silent_p.I220I|MMEL1_ENST00000378412.3_Silent_p.I377I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	377					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCAGGTAGGGGATGCCATAGA	0.517000													12	45					0	0	0.003163	0	0
LRP5	4041	broad.mit.edu	37	11	68207324	68207324	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:68207324C>T	ENST00000294304.7	+	21	4534	c.4428C>T	c.(4426-4428)aaC>aaT	p.N1476N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1476					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGACCGGAACCACGTCACAG	0.731000													6	20					0	0	0.003080	0	0
CES2	8824	broad.mit.edu	37	16	66974523	66974523	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:66974523C>T	ENST00000317091.4	+	5	1917	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CES2_ENST00000417689.1_Silent_p.F311F	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	247					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)		AAGGACTCTTCCACGGAGCCA	0.597000													13	65					0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82784272	82784272	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:82784272C>T	ENST00000423517.2	-	2	2022	c.1685G>A	c.(1684-1686)gGa>gAa	p.G562E	PCLO_ENST00000333891.8_Missense_Mutation_p.G562E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	508	Pro-rich.				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						TTTTCCAGATCCTGTTTGGCT	0.522000													78	356					0	0	0.014410	0	0
BRINP2	57795	broad.mit.edu	37	1	177249597	177249597	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:177249597G>A	ENST00000361539.4	+	8	1597	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		429						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTACTGTGGGGAAAGCACCTT	0.542000													10	57					0	0	0.006214	0	0
KDR	3791	broad.mit.edu	37	4	55974004	55974004	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:55974004C>G	ENST00000263923.4	-	10	1607	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	438	Ig-like C2-type 5.				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|growth factor binding|Hsp90 protein 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)	TGAGTGGTGCCGTACTGGTAG	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	64					0	0	0.001984	0	0
TRIM42	287015	broad.mit.edu	37	3	140407068	140407068	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:140407068T>C	ENST00000286349.3	+	3	1735	c.1544T>C	c.(1543-1545)aTg>aCg	p.M515T		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	515						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGAAACAATGATTGCCAGG	0.567000													11	38					0	0	0.008291	0	0
TRPC7	57113	broad.mit.edu	37	5	135583221	135583221	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:135583221C>T	ENST00000513104.1	-	7	2064	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	TRPC7_ENST00000426057.2_Missense_Mutation_p.M478I|TRPC7_ENST00000355180.3_Missense_Mutation_p.M533I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	594					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACATCCCAATCATGAAGGCCA	0.473000													10	55					0	0	0.008291	0	0
DNAH6	1768	broad.mit.edu	37	2	84784883	84784883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:84784883C>T	ENST00000389394.3	+	11	1764	c.1627C>T	c.(1627-1629)Cac>Tac	p.H543Y	DNAH6_ENST00000398278.2_Missense_Mutation_p.H543Y|DNAH6_ENST00000237449.6_Missense_Mutation_p.H543Y	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	543	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGCAGTTAATCACTGTCAAAA	0.289000													13	95					0	0	0.003163	0	0
CYYR1	116159	broad.mit.edu	37	21	27840924	27840924	+	Missense_Mutation	SNP	C	C	T	rs140249086	by1000genomes	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:27840924C>T	ENST00000299340.4	-	4	704	c.361G>A	c.(361-363)Gag>Aag	p.E121K	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	121						integral to membrane		p.E121K(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TATTCCATCTCGTGGTCGTGA	0.522000													18	36					0	0	0.010504	0	0
SLC25A5	292	broad.mit.edu	37	X	118603857	118603857	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:118603857G>A	ENST00000317881.8	+	2	461	c.345G>A	c.(343-345)ggG>ggA	p.G115G	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	115					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ACTTTGCAGGGAATCTGGCAT	0.527000													13	137					0	0	0.004007	0	0
STAG3	10734	broad.mit.edu	37	7	99786085	99786085	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:99786085C>T	ENST00000426455.1	+	6	850	c.443C>T	c.(442-444)aCc>aTc	p.T148I	STAG3_ENST00000317296.5_Missense_Mutation_p.T148I|STAG3_ENST00000394018.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	148					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCATTGTGACCCCTGAGATG	0.418000													37	282					0	0	0.008740	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911350	54911350	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:54911350C>T	ENST00000293373.6	+	12	1208	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R327C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	377					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTCCTTCATTCGTGATGAGGT	0.438000													7	48					0	0	0.006214	0	0
ATRX	546	broad.mit.edu	37	X	76938831	76938831	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:76938831C>G	ENST00000373344.5	-	9	2131	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L601F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	639					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CATTTTCAACCAAATGCTCAT	0.413000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	217					0	0	0.006214	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654711	31654711	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:31654711A>C	ENST00000340345.4	-	1	565	c.540T>G	c.(538-540)aaT>aaG	p.N180K		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	180						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGAAGCAAGGATTTTGGTAGC	0.398000													5	69					0	0	0.000602	0	0
ZNF160	90338	broad.mit.edu	37	19	53572368	53572368	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:53572368G>A	ENST00000601421.1	-	3	2187	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V	ZNF160_ENST00000599056.1_Silent_p.V473V|ZNF160_ENST00000418871.1_Silent_p.V473V|ZNF160_ENST00000429604.1_Silent_p.V473V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	473					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CAGTATGGATGACCTGATGGG	0.408000													13	78					0	0	0.001855	0	0
GTF3C2	2976	broad.mit.edu	37	2	27565723	27565723	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:27565723C>T	ENST00000359541.2	-	3	968	c.539G>A	c.(538-540)gGg>gAg	p.G180E	GTF3C2_ENST00000264720.3_Missense_Mutation_p.G180E			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	180						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTCGTTCCCCAGAAGGGGT	0.577000													10	74					0	0	0.013537	0	0
TTF2	8458	broad.mit.edu	37	1	117635466	117635466	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:117635466C>T	ENST00000369466.3	+	18	2963	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	973					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCACTGTTTCCCTTAACGGCA	0.488000													12	58					0	0	0.013537	0	0
TRBV27	28560	broad.mit.edu	37	7	142423623	142423623	+	RNA	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142423623C>T	ENST00000506718.1	+	0	631				TRBV27_ENST00000390399.3_RNA																							AGAGGAATTTCCCCCTGATCC	0.498000													5	30					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996272	140996272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:140996272G>A	ENST00000285879.4	+	4	3368	c.3082G>A	c.(3082-3084)Gtg>Atg	p.V1028M	MAGEC1_ENST00000406005.2_Missense_Mutation_p.V95M	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1028	MAGE.						protein binding			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)					TGGAATAGGGGTGCGTGCTGG	0.542000										HNSCC(15;0.026)			8	90					0	0	0.003080	0	0
ABCA3	21	broad.mit.edu	37	16	2334337	2334337	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:2334337C>T	ENST00000301732.5	-	25	4505	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1211K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1269					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCCGCGTCTCGTAGTTCTCG	0.577000													13	42					0	0	0.013537	0	0
PRR23C	389152	broad.mit.edu	37	3	138763081	138763081	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:138763081G>A	ENST00000413199.1	-	1	653	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.L128L	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	128										breast(2)|lung(7)|skin(2)	11						TGAGCGCCCAGGAAAACGTCC	0.642000													3	5					0	0	0.004672	0	0
UBE3C	9690	broad.mit.edu	37	7	156971527	156971527	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:156971527A>G	ENST00000348165.5	+	6	962	c.602A>G	c.(601-603)tAc>tGc	p.Y201C	UBE3C_ENST00000389103.4_Missense_Mutation_p.Y158C	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	201					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATTTTGCACTACATGATTCAC	0.463000													6	46					0	0	0.003080	0	0
FTSJ3	117246	broad.mit.edu	37	17	61899393	61899393	+	Missense_Mutation	SNP	C	C	G	rs148527553		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:61899393C>G	ENST00000427159.2	-	14	2071	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	476					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCAGCTCCTCTGGATCCAGG	0.527000													27	53					0	0	0.010818	0	0
SEC31B	25956	broad.mit.edu	37	10	102249812	102249812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:102249812G>A	ENST00000370345.3	-	21	3015	c.2918C>T	c.(2917-2919)cCa>cTa	p.P973L		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	973	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTAGAGCATGGGGCACCTGG	0.607000													12	53					0	0	0.002450	0	0
GPC4	2239	broad.mit.edu	37	X	132445387	132445387	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:132445387C>G	ENST00000370828.3	-	4	1300	c.776G>C	c.(775-777)gGt>gCt	p.G259A	GPC4_ENST00000535467.1_Missense_Mutation_p.G189A	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	259					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AGTCACGAGACCCCGGCAGTG	0.473000													9	103					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13766229	13766229	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:13766229G>A	ENST00000265104.4	-	59	10061	c.9957C>T	c.(9955-9957)atC>atT	p.I3319I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3319	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)					TGATCCGCATGATGAGGTGAG	0.532000									Kartagener syndrome				17	115					0	0	0.004990	0	0
DNMT3L	29947	broad.mit.edu	37	21	45681060	45681060	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:45681060G>A	ENST00000270172.3	-	2	566	c.83C>T	c.(82-84)tCc>tTc	p.S28F	DNMT3L_ENST00000418993.1_Missense_Mutation_p.S28F	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	28					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGGTGAAACGGAGCTTGAGAG	0.602000													8	79					0	0	0.004482	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235641	140235641	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140235641C>T	ENST00000307360.5	+	1	8	c.8C>T	c.(7-9)tCc>tTc	p.S3F	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S3F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTTTCCAGATGTAGC	0.493000													15	103					0	0	0.003163	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146414	70146414	+	Missense_Mutation	SNP	C	C	T	rs149421320		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:70146414C>T	ENST00000335568.5	+	1	198	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P66S	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	66					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTTTTTGATCCCAATGACGC	0.383000													10	79					0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21229951	21229951	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:21229951G>A	ENST00000233242.1	-	26	9916	c.9789C>T	c.(9787-9789)ttC>ttT	p.F3263F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3263					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTCTATGGTGAATGGAGACA	0.458000													67	240					0	0	0.014410	0	0
FOXM1	2305	broad.mit.edu	37	12	2983187	2983187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:2983187G>A	ENST00000342628.2	-	2	571	c.458C>T	c.(457-459)cCt>cTt	p.P153L	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.P153L|FOXM1_ENST00000359843.3_Missense_Mutation_p.P153L	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	153					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGTGGTCTAGGAAGATTCAC	0.562000													24	90					0	0	0.002780	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168459	142168459	+	RNA	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142168459G>A	ENST00000454561.2	-	0	464																											TATCATTAGGGAACTGGAGAC	0.537000													13	92					0	0	0.004007	0	0
LRP6	4040	broad.mit.edu	37	12	12303966	12303966	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:12303966G>C	ENST00000261349.4	-	13	2874	c.2798C>G	c.(2797-2799)aCg>aGg	p.T933R	LRP6_ENST00000543091.1_Missense_Mutation_p.T933R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	933	Beta-propeller 4.				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 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|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			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)				CAGGAAAGTCGTAGGAGCTTA	0.423000													6	224					0	0	0.001168	0	0
HIPK2	28996	broad.mit.edu	37	7	139416420	139416420	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:139416420G>A	ENST00000406875.3	-	2	508	c.414C>T	c.(412-414)atC>atT	p.I138I	HIPK2_ENST00000342645.6_Silent_p.I138I|HIPK2_ENST00000428878.2_Silent_p.I138I	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	138	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTGTGTTCTCGATCTCCTCGC	0.547000													11	40					0	0	0.010729	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378655	114378655	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:114378655C>T	ENST00000312719.5	-	5	1995	c.807G>A	c.(805-807)gtG>gtA	p.V269V	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.V269V|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	269					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAACTTCTCCACGAGCTGAA	0.403000													11	41					0	0	0.008291	0	0
MED12	9968	broad.mit.edu	37	X	70348270	70348270	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:70348270G>A	ENST00000333646.6	+	23	3533	c.3334G>A	c.(3334-3336)Gat>Aat	p.D1112N	MED12_ENST00000374102.1_Missense_Mutation_p.D1112N|MED12_ENST00000374080.3_Missense_Mutation_p.D1112N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1112					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGTTTCAACGATCTCCTCTG	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	141					0	0	0.003080	0	0
OR4M1	441670	broad.mit.edu	37	14	20248589	20248589	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:20248589G>A	ENST00000315957.4	+	1	189	c.108G>A	c.(106-108)ttG>ttA	p.L36L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTCTATTTGTTCATCCTAC	0.433000													7	198					0	0	0.003080	0	0
SRSF3	6428	broad.mit.edu	37	6	36564672	36564672	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:36564672C>T	ENST00000373715.6	+	2	249	c.133C>T	c.(133-135)Cca>Tca	p.P45S	SRSF3_ENST00000339436.7_Missense_Mutation_p.P45S	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	45	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TGCTAGAAACCCACCCGGCTT	0.458000													11	93					0	0	0.008291	0	0
DPP10	57628	broad.mit.edu	37	2	116572408	116572408	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:116572408C>T	ENST00000410059.1	+	20	2220	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	DPP10_ENST00000310323.8_Silent_p.F573F|DPP10_ENST00000409163.1_Silent_p.F530F|DPP10_ENST00000393147.2_Silent_p.F584F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	580					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGATAAGTTCCATATTGACT	0.413000													4	54					0	0	0.009096	0	0
B3GNT3	10331	broad.mit.edu	37	19	17919051	17919051	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:17919051C>T	ENST00000318683.6	+	2	582	c.435C>T	c.(433-435)ttC>ttT	p.F145F	B3GNT3_ENST00000595387.1_Silent_p.F145F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	145					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCTCCTCTTCCTGGTGGGCA	0.662000													8	30					0	0	0.003080	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590187	590187	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:590187C>T	ENST00000406797.1	-	11	1200	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	PRKAR1B_ENST00000360274.4_Silent_p.R342R|PRKAR1B_ENST00000537384.1_Silent_p.R342R|PRKAR1B_ENST00000544935.1_Silent_p.R342R|PRKAR1B_ENST00000403562.1_Silent_p.R342R	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	342					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TGAGGGGCCCCCGGGCCACGA	0.662000													3	13					0	0	0.004672	0	0
PTK2	5747	broad.mit.edu	37	8	141799613	141799613	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:141799613G>A	ENST00000522684.1	-	14	1366	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	PTK2_ENST00000517887.1_Silent_p.S423S|PTK2_ENST00000395218.2_Silent_p.S379S|PTK2_ENST00000340930.3_Silent_p.S379S|PTK2_ENST00000519419.1_Silent_p.S423S|PTK2_ENST00000521059.1_Silent_p.S379S|PTK2_ENST00000535192.1_Silent_p.S379S|PTK2_ENST00000538769.1_Silent_p.S40S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	379					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTTGCTTTTCGCTGTTGGCCA	0.547000													10	159					0	0	0.006214	0	0
PAK7	57144	broad.mit.edu	37	20	9525129	9525129	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:9525129C>T	ENST00000378429.3	-	9	2302	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	PAK7_ENST00000353224.5_Missense_Mutation_p.D586N|PAK7_ENST00000378423.1_Missense_Mutation_p.D586N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	586	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAACCAAAATCAGACAACTTT	0.398000													7	46					0	0	0.001984	0	0
MORC4	79710	broad.mit.edu	37	X	106198237	106198237	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:106198237G>A	ENST00000355610.4	-	14	1865	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	MORC4_ENST00000255495.7_Missense_Mutation_p.H531Y|MORC4_ENST00000535534.1_Missense_Mutation_p.H279Y	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	531							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTAGGGCTATGAATTCCCTCA	0.398000													10	91					0	0	0.008291	0	0
IGSF1	3547	broad.mit.edu	37	X	130416530	130416530	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:130416530G>A	ENST00000370904.1	-	13	2017	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	IGSF1_ENST00000361420.3_Silent_p.F378F|IGSF1_ENST00000370910.1_Silent_p.F369F|IGSF1_ENST00000370903.3_Silent_p.F378F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	378	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATTGTTGAGGAAGAATGATG	0.458000													18	44					0	0	0.006122	0	0
ZNF563	147837	broad.mit.edu	37	19	12430489	12430489	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:12430489G>A	ENST00000293725.5	-	4	555	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ZNF563_ENST00000595977.1_Missense_Mutation_p.S117F	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCTATTAAGGGATAAATGACC	0.418000													15	91					0	0	0.003163	0	0
ADAM20	8748	broad.mit.edu	37	14	70989757	70989757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:70989757G>A	ENST00000256389.3	-	2	2112	c.1868C>T	c.(1867-1869)cCc>cTc	p.P623L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	573	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TATCAGATTGGGAATTACTCC	0.443000													4	33					0	0	0.009096	0	0
THEMIS	387357	broad.mit.edu	37	6	128135008	128135008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:128135008C>T	ENST00000368250.1	-	5	1039	c.541G>A	c.(541-543)Gat>Aat	p.D181N	THEMIS_ENST00000368248.2_Missense_Mutation_p.D260N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D260N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D225N			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	260	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTTAGCATCGTAAGAATCA	0.363000													11	78					0	0	0.001855	0	0
SASH3	54440	broad.mit.edu	37	X	128914113	128914113	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:128914113C>T	ENST00000356892.3	+	1	154	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	14										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TGAGAAGGAGCCCACTCAGAA	0.557000													3	20					0	0	0.000602	0	0
KMT2A	4297	broad.mit.edu	37	11	118343772	118343772	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:118343772C>T	ENST00000534358.1	+	3	1921	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S633F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S633F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAATACTTTTCCTCAGCAAAG	0.443000													15	47					0	0	0.002450	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730873	140730873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140730873C>T	ENST00000523390.1	+	1	1046	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCCTTCTCTAACCAGATT	0.438000													7	12					0	0	0.001984	0	0
SF3B3	23450	broad.mit.edu	37	16	70605702	70605702	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:70605702C>T	ENST00000302516.5	+	26	3851	c.3640C>T	c.(3640-3642)Cgc>Tgc	p.R1214C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1214					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TATCCGGACCCGCTACGCCTT	0.552000													4	44					0	0	0.001168	0	0
DNM2	1785	broad.mit.edu	37	19	10930743	10930743	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:10930743G>A	ENST00000314646.5	+	16	1923	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	DNM2_ENST00000585892.1_Missense_Mutation_p.A587T|DNM2_ENST00000355667.6_Missense_Mutation_p.A587T|DNM2_ENST00000389253.4_Missense_Mutation_p.A587T|DNM2_ENST00000359692.6_Missense_Mutation_p.A583T|DNM2_ENST00000408974.4_Missense_Mutation_p.A583T			P50570	DYN2_HUMAN	dynamin 2	587	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCACGTCTTCGCCATCTTCAA	0.567000			"""F, N, Splice, Mis, O"""		ETP ALL								7	50					0	0	0.001984	0	0
EFCAB2	84288	broad.mit.edu	37	1	245180564	245180564	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:245180564C>T	ENST00000366522.2	+	3	595	c.454C>T	c.(454-456)Cac>Tac	p.H152Y	EFCAB2_ENST00000366523.1_Missense_Mutation_p.H16Y|EFCAB2_ENST00000447569.2_Missense_Mutation_p.H16Y|EFCAB2_ENST00000487845.1_Intron			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	152	EF-hand 1.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AGCAGAATTTCACAAAAAAAT	0.279000													4	39					0	0	0.001168	0	0
FAM47A	158724	broad.mit.edu	37	X	34148281	34148281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:34148281C>T	ENST00000346193.3	-	1	2166	c.2115G>A	c.(2113-2115)tgG>tgA	p.W705*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	705										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTAGCTTTTTCCACAACTTAG	0.433000													11	63					0	0	0.010729	0	0
WDR52	55779	broad.mit.edu	37	3	113145025	113145025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:113145025G>A	ENST00000393845.2	-	4	419	c.353C>T	c.(352-354)tCg>tTg	p.S118L	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.S118L|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	118								p.S118L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAAAGGCATCGAAGCAAGCTC	0.413000													10	136					0	0	0.010729	0	0
GABRA1	2554	broad.mit.edu	37	5	161300147	161300147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:161300147C>T	ENST00000428797.2	+	6	635	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	GABRA1_ENST00000437025.2_Missense_Mutation_p.R94C|GABRA1_ENST00000420560.1_Missense_Mutation_p.R94C|GABRA1_ENST00000023897.6_Missense_Mutation_p.R94C|GABRA1_ENST00000444819.1_Missense_Mutation_p.R94C|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94C	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R94C(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGTATTTTTCCGTCAAAGCTG	0.373000													9	64					0	0	0.006214	0	0
MUC2	4583	broad.mit.edu	37	11	1097804	1097804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:1097804C>A	ENST00000441003.2	+	36	6924	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4661						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCCACACTGCCCCCACAGCA	0.667000													5	12					0.000602214	0.000851475	0.000602	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188538	32188538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:32188538C>T	ENST00000375023.3	-	5	1055	c.917G>A	c.(916-918)tGg>tAg	p.W306*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	306	EGF-like 7; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCACCTGTCCAGGTTTCTGG	0.587000													68	169					0	0	0.014410	0	0
DPEP2	64174	broad.mit.edu	37	16	68021800	68021800	+	Silent	SNP	A	A	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:68021800A>C	ENST00000412757.2	-	11	1826	c.1161T>G	c.(1159-1161)ggT>ggG	p.G387G	DPEP2_ENST00000393847.1_Silent_p.G387G|DPEP2_ENST00000572888.1_Silent_p.G387G			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	387					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACGAAGGACACCCTGAAGCT	0.567000													19	98					0	0	0.002780	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826579	124826579	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:124826579C>T	ENST00000423114.2	-	10	1537	c.1538G>A	c.(1537-1539)aGg>aAg	p.R513K	SLC12A8_ENST00000393469.4_Missense_Mutation_p.R484K|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R285K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R484K|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R237K			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	484					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TTCTGGGGTCCTGTTACCCTC	0.532000													12	80					0	0	0.013537	0	0
OR13A1	79290	broad.mit.edu	37	10	45799336	45799336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:45799336C>T	ENST00000553795.1	-	4	843	c.535G>A	c.(535-537)Ggg>Agg	p.G179R	OR13A1_ENST00000374401.2_Missense_Mutation_p.G179R|OR13A1_ENST00000536058.1_Missense_Mutation_p.G179R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCATCAGCCCCGTGTGGATG	0.602000													5	43					0	0	0.000602	0	0
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:198267484G>A	ENST00000335508.5	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433000			Mis		myelodysplastic syndrome								4	35					0	0	0.009096	0	0
NWD1	284434	broad.mit.edu	37	19	16860799	16860799	+	Missense_Mutation	SNP	G	G	A	rs139108504		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:16860799G>A	ENST00000524140.2	+	6	1764	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	NWD1_ENST00000552788.1_Missense_Mutation_p.R449Q|NWD1_ENST00000549814.1_Missense_Mutation_p.R449Q|NWD1_ENST00000523826.1_Missense_Mutation_p.R243Q|NWD1_ENST00000379808.3_Missense_Mutation_p.R449Q|NWD1_ENST00000339803.6_Missense_Mutation_p.R314Q	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGCCATGCTCGGAGGGTTCCC	0.597000													17	59					0	0	0.007413	0	0
CDH13	1012	broad.mit.edu	37	16	83636110	83636110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:83636110G>T	ENST00000566620.1	+	8	1302	c.1012G>T	c.(1012-1014)Gga>Tga	p.G338*	CDH13_ENST00000428848.3_Nonsense_Mutation_p.G299*|CDH13_ENST00000268613.10_Nonsense_Mutation_p.G385*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	338	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGATATGGCTGGACTGGATGT	0.418000													28	168					6.38683e-12	9.27611e-12	0.008361	1	0
EFCC1	79825	broad.mit.edu	37	3	128758606	128758606	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:128758606C>T	ENST00000436022.2	+	8	1712	c.401C>T	c.(400-402)gCt>gTt	p.A134V	EFCC1_ENST00000480450.1_Missense_Mutation_p.A571V	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		CAAGCCTTGGCTGCCTGCCAG	0.657000													11	56					0	0	0.010729	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512803	99512803	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:99512803C>T	ENST00000535714.1	-	4	865	c.60G>A	c.(58-60)cgG>cgA	p.R20R	PGPEP1L_ENST00000378919.6_Silent_p.R74R|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	74					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TGTCGGCGTCCCGGTAGCCTT	0.627000													30	52					0	0	0.007291	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735174	12735174	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:12735174G>A	ENST00000380682.1	+	15	3102	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	866					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAAGGGACTGGATAATGCCGT	0.527000													4	66					0	0	0.001168	0	0
NOX1	27035	broad.mit.edu	37	X	100117282	100117282	+	Missense_Mutation	SNP	G	G	A	rs145941822	byFrequency	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:100117282G>A	ENST00000372966.3	-	7	887	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R228W|NOX1_ENST00000372960.4_Missense_Mutation_p.R191W	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	228	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTTTGACCCCGGACAATTCCA	0.498000													19	174					0	0	0.010504	0	0
LGR6	59352	broad.mit.edu	37	1	202287116	202287116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:202287116G>A	ENST00000367278.3	+	18	1774	c.1685G>A	c.(1684-1686)tGg>tAg	p.W562*	LGR6_ENST00000255432.7_Nonsense_Mutation_p.W510*|LGR6_ENST00000439764.2_Nonsense_Mutation_p.W423*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	562						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTTGAAAGCTGGGGCATCCGC	0.617000													12	77					0	0	0.001855	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869816	151869816	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:151869816T>G	ENST00000329342.5	+	3	731	c.506T>G	c.(505-507)gTg>gGg	p.V169G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	169	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGGAAGTGGACCCCATC	0.552000													9	86					0	0	0.008291	0	0
GPR112	139378	broad.mit.edu	37	X	135431958	135431958	+	Silent	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:135431958T>C	ENST00000394143.1	+	6	6384	c.6093T>C	c.(6091-6093)acT>acC	p.T2031T	GPR112_ENST00000287534.4_Silent_p.T1968T|GPR112_ENST00000412101.1_Silent_p.T1826T|GPR112_ENST00000370652.1_Silent_p.T2031T|GPR112_ENST00000394141.1_Silent_p.T1826T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2031					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGTTATGACTTCCTCTACAG	0.443000													14	56					0	0	0.003163	0	0
SLC45A1	50651	broad.mit.edu	37	1	8395589	8395589	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:8395589C>T	ENST00000471889.1	+	6	1921	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L546L|SLC45A1_ENST00000289877.8_Silent_p.L512L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	512					carbohydrate transport	integral to membrane	symporter activity	p.L512L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCGCCTCTGCTCCACCA	0.652000													11	40					0	0	0.008291	0	0
IL1RAP	3556	broad.mit.edu	37	3	190282125	190282125	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:190282125T>G	ENST00000412504.2	+	2	299	c.47T>G	c.(46-48)cTg>cGg	p.L16R	IL1RAP_ENST00000439062.1_Missense_Mutation_p.L16R|IL1RAP_ENST00000422485.1_Missense_Mutation_p.L16R|IL1RAP_ENST00000317757.3_Missense_Mutation_p.L16R|IL1RAP_ENST00000447382.1_Missense_Mutation_p.L16R|IL1RAP_ENST00000072516.3_Missense_Mutation_p.L16R|IL1RAP_ENST00000422940.1_Missense_Mutation_p.L16R|IL1RAP_ENST00000443369.2_Missense_Mutation_p.L16R|IL1RAP_ENST00000434491.1_Intron			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	16					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TATGGAATCCTGCAAAGTGAT	0.383000													5	32					0	0	0.000602	0	0
THBS4	7060	broad.mit.edu	37	5	79351609	79351609	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:79351609C>T	ENST00000350881.2	+	3	484	c.292_splice	c.e3-1	p.A98_splice	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Splice_Site_p.A7_splice	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	98	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGCTTCCAGCCATCCTCCGTT	0.537000													54	218					0	0	0.014410	0	0
AGGF1	55109	broad.mit.edu	37	5	76331408	76331408	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:76331408A>C	ENST00000312916.7	+	3	738	c.356A>C	c.(355-357)aAt>aCt	p.N119T	AGGF1_ENST00000503538.1_3'UTR|AGGF1_ENST00000506806.1_Missense_Mutation_p.N119T	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	119					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGTCTTCCAAATAAAGTGACT	0.303000													43	233					0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189068515	189068515	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:189068515A>T	ENST00000332517.3	+	6	1536	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	466	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTCACTGAACAGCCACGTCTG	0.552000													7	36					0	0	0.001984	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744601	19744601	+	Silent	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:19744601A>G	ENST00000284885.3	-	6	606	c.573T>C	c.(571-573)tgT>tgC	p.C191C		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	191	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAGCATCAGTACAAGGACTTG	0.328000													5	28					0	0	0.001168	0	0
PASD1	139135	broad.mit.edu	37	X	150773145	150773145	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:150773145G>A	ENST00000370357.4	+	3	301	c.56G>A	c.(55-57)aGg>aAg	p.R19K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	19						nucleus	signal transducer activity			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)					AGCTCTCAAAGGAAATTAAAC	0.333000													3	18					0	0	0.004672	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658278	46658278	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:46658278C>T	ENST00000253255.5	-	1	941	c.942G>A	c.(940-942)ggG>ggA	p.G314G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	314	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTTGGGGTTCCCTGTGGTGA	0.522000													10	187					0	0	0.006214	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518634	106518634	+	RNA	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:106518634G>A	ENST00000390598.2	-	0	195																											CTGCACAGGAGAGTCTCAGGG	0.582000													7	68					0	0	0.001984	0	0
AGT	183	broad.mit.edu	37	1	230845971	230845971	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:230845971A>G	ENST00000366667.4	-	2	840	c.626T>C	c.(625-627)gTg>gCg	p.V209A		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	209					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GAACACGCCCACCACCGTGGA	0.647000													6	36					0	0	0.001168	0	0
MYRF	745	broad.mit.edu	37	11	61550977	61550977	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:61550977C>T	ENST00000278836.5	+	23	3120	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	MYRF_ENST00000265460.5_Intron|MYRF_ENST00000389602.4_Intron|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CAGCCTCTCTCCTTGCAGAGC	0.562000													8	115					0	0	0.003080	0	0
OSBPL8	114882	broad.mit.edu	37	12	76767208	76767208	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:76767208G>A	ENST00000261183.3	-	18	2312	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	OSBPL8_ENST00000393249.2_Silent_p.F569F|OSBPL8_ENST00000393250.4_Silent_p.F569F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	611					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TACTCCCTAGGAATGGCTTTT	0.303000													4	30					0	0	0.009096	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769554	140769554	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140769554C>T	ENST00000519479.1	+	1	2103	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCTCTTCCTCGTGGCCA	0.602000													9	159					0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129571261	129571261	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:129571261C>T	ENST00000421865.2	+	13	1836	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	596	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGTAGCTCCCAGCAGTAGGA	0.363000													5	47					0	0	0.001168	0	0
PSME4	23198	broad.mit.edu	37	2	54159155	54159155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:54159155C>T	ENST00000404125.1	-	10	1188	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	378					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGAGTTAACCAAGAGGGCTT	0.418000													5	54					0	0	0.000602	0	0
KLHL1	57626	broad.mit.edu	37	13	70314559	70314559	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:70314559C>T	ENST00000377844.4	-	8	2528	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	KLHL1_ENST00000545028.1_Missense_Mutation_p.R397Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	590					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AACTGTGCTCCGAGCAATTGA	0.378000													4	20					0	0	0.009096	0	0
COL6A3	1293	broad.mit.edu	37	2	238280938	238280938	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:238280938G>A	ENST00000295550.4	-	9	4174	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	COL6A3_ENST00000472056.1_Missense_Mutation_p.S634F|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1040F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1035F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1041F|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1035F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1035F|COL6A3_ENST00000392003.2_Missense_Mutation_p.S834F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1241	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCACTTTGGGACCCATCGAT	0.547000													11	35					0	0	0.010729	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426861	111426861	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:111426861C>T	ENST00000393934.3	+	2	822	c.252C>T	c.(250-252)atC>atT	p.I84I	PLCXD2_ENST00000477665.1_Silent_p.I84I	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	84	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCGCCAGGATCTCCTTGGTGA	0.507000													5	30					0	0	0.000602	0	0
LPO	4025	broad.mit.edu	37	17	56329569	56329569	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:56329569G>A	ENST00000262290.4	+	8	1123	c.807G>A	c.(805-807)ggG>ggA	p.G269G	LPO_ENST00000421678.2_Silent_p.G186G|LPO_ENST00000543544.1_Silent_p.G210G|LPO_ENST00000582328.1_Silent_p.G186G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	269					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCAAGGCGGGGACTCAAGGGA	0.607000													6	31					0	0	0.001984	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144753	1144753	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:1144753G>A	ENST00000328449.5	-	3	443	c.170C>T	c.(169-171)cCt>cTt	p.P57L		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	57						collagen		p.P57L(1)		lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCGTACTCGAGGCAGCCCCCT	0.672000													10	44					0	0	0.010729	0	0
ATP2B3	492	broad.mit.edu	37	X	152818565	152818565	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:152818565G>A	ENST00000370186.1	+	11	2180	c.1854G>A	c.(1852-1854)agG>agA	p.R618R	ATP2B3_ENST00000263519.4_Silent_p.R632R|ATP2B3_ENST00000349466.2_Silent_p.R632R|ATP2B3_ENST00000370181.2_Silent_p.R618R|ATP2B3_ENST00000359149.3_Silent_p.R632R|ATP2B3_ENST00000393842.1_Silent_p.R618R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	632					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGTGAGGAAGATCATCG	0.617000													5	37					0	0	0.001168	0	0
DSG3	1830	broad.mit.edu	37	18	29056200	29056200	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr18:29056200G>A	ENST00000257189.4	+	16	3060	c.2977G>A	c.(2977-2979)Gat>Aat	p.D993N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	993					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGTACAGAGGATCCTTGCTC	0.468000													13	76					0	0	0.002450	0	0
NPPA	4878	broad.mit.edu	37	1	11907371	11907371	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:11907371C>G	ENST00000376480.3	-	2	347	c.249G>C	c.(247-249)tgG>tgC	p.W83C	NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.W33C	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	83					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCCCGGTCCAGGGAGGCA	0.632000													9	51					0	0	0.004482	0	0
ENC1	8507	broad.mit.edu	37	5	73931666	73931666	+	Silent	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:73931666A>G	ENST00000302351.4	-	2	1775	c.645T>C	c.(643-645)atT>atC	p.I215I	ENC1_ENST00000510316.1_Silent_p.I142I|ENC1_ENST00000537006.1_Silent_p.I215I	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	215					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGATCCAGTTAATTGCAGACT	0.498000													5	58					0	0	0.001168	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657852	46657852	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:46657852G>A	ENST00000253255.5	-	1	1367	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	456	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTGTGCTATGGCTTTTGGTC	0.418000													7	76					0	0	0.003080	0	0
NPPA	4878	broad.mit.edu	37	1	11907372	11907372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:11907372C>T	ENST00000376480.3	-	2	346	c.248G>A	c.(247-249)tGg>tAg	p.W83*	NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Nonsense_Mutation_p.W33*	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	83					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCCGGTCCAGGGAGGCAC	0.627000													9	54					0	0	0.004482	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	25					0	0	0.009096	0	0
GLRA4	441509	broad.mit.edu	37	X	102962405	102962405	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:102962405C>G	ENST00000372617.4	-	9	1541	c.1121G>C	c.(1120-1122)cGt>cCt	p.R374P		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	374						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCCATAGCCACGGAAATAGAA	0.488000													10	50					0	0	0.008291	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533020	166533020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:166533020C>T	ENST00000314499.7	+	6	983	c.607C>T	c.(607-609)Cga>Tga	p.R203*	CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R235*|CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.R203*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	203					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R203R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCACGAACTCCGAGCCATCCG	0.527000													19	58					0	0	0.007413	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725033	7725033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:7725033G>A	ENST00000303635.7	+	9	2633	c.2426G>A	c.(2425-2427)gGg>gAg	p.G809E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAGAGGACGGGGCGCGGGCC	0.682000			T	WWTR1	epitheliod hemangioendothelioma								27	161					0	0	0.004656	0	0
CUX2	23316	broad.mit.edu	37	12	111748275	111748275	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:111748275G>A	ENST00000261726.6	+	15	1843	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	563						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGTGAAGGAGCAGCTGC	0.687000													6	57					0	0	0.003080	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274730	42274730	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:42274730C>T	ENST00000389384.4	-	3	530	c.222G>A	c.(220-222)caG>caA	p.Q74Q	ATXN7L3_ENST00000454077.2_Silent_p.Q74Q|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	74					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGTTGAAAACCTGTCCAAAGA	0.597000													13	92					0	0	0.004007	0	0
RAI2	10742	broad.mit.edu	37	X	17819691	17819691	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:17819691G>A	ENST00000545871.1	-	3	900	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RAI2_ENST00000451717.1_Missense_Mutation_p.S147F|RAI2_ENST00000415486.3_Missense_Mutation_p.S97F|RAI2_ENST00000360011.1_Missense_Mutation_p.S147F|RAI2_ENST00000331511.1_Missense_Mutation_p.S147F	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	147					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGTACTGGAGGAGCATGGGGC	0.672000													10	93					0	0	0.006214	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562914	11562914	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:11562914G>A	ENST00000294484.6	+	3	1414	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V426M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	426					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCAGAGCTTCGTGGTCACCTA	0.542000													6	37					0	0	0.001984	0	0
ITK	3702	broad.mit.edu	37	5	156665145	156665145	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:156665145G>A	ENST00000422843.3	+	9	947	c.795G>A	c.(793-795)agG>agA	p.R265R		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	265	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATGGTAAGGGATTCCAGGA	0.468000			T	SYK	peripheral T-cell lymphoma								52	345					0	0	0.014410	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771930	100771930	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:100771930G>A	ENST00000223095.4	+	2	413	c.256G>A	c.(256-258)Gga>Aga	p.G86R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G71R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	86					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGCAGCTATGGGATTCAAGAT	0.577000													5	42					0	0	0.001984	0	0
ETV7	51513	broad.mit.edu	37	6	36336840	36336840	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:36336840G>A	ENST00000373738.1	-	5	1353	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	ETV7_ENST00000340181.4_Silent_p.L225L|ETV7_ENST00000373737.4_Silent_p.L148L|ETV7_ENST00000339796.5_Silent_p.L225L|ETV7_ENST00000538992.1_Silent_p.L74L	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	225					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TCCCACAGCAGGCGGCAGTCT	0.547000													4	47					0	0	0.009096	0	0
ZNF230	7773	broad.mit.edu	37	19	44513269	44513269	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:44513269G>A	ENST00000429154.2	+	4	404	c.176G>A	c.(175-177)aGg>aAg	p.R59K	ZNF230_ENST00000585632.1_Missense_Mutation_p.R59K	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CACTTCCTAAGGGAAGAAAAG	0.398000													8	40					0	0	0.004482	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921089	12921089	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:12921089C>T	ENST00000240189.2	+	4	967	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	294								p.P294T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAGAACCCCTTGGAGAA	0.458000													18	103					0	0	0.006122	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830848	22830848	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:22830848G>A	ENST00000376573.4	-	8	1149	c.921C>T	c.(919-921)acC>acT	p.T307T	PIP4K2A_ENST00000545335.1_Silent_p.T248T|PIP4K2A_ENST00000323883.7_Silent_p.T167T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	307	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCACCGGGTGGGTGCCATCGC	0.602000													6	50					0	0	0.001168	0	0
ATP7A	538	broad.mit.edu	37	X	77264757	77264757	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:77264757T>G	ENST00000341514.6	+	7	2021	c.1866T>G	c.(1864-1866)atT>atG	p.I622M	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.I622M	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	622	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCCATACAATTGAAGTAAGTG	0.383000													14	173					0	0	0.003163	0	0
PRX	57716	broad.mit.edu	37	19	40901920	40901920	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:40901920G>A	ENST00000324001.7	-	7	2609	c.2339C>T	c.(2338-2340)cCg>cTg	p.P780L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	780	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCACCTCCGGAGCCCTGGG	0.582000													10	98					0	0	0.013537	0	0
TTBK1	84630	broad.mit.edu	37	6	43250473	43250473	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:43250473C>T	ENST00000259750.4	+	14	2078	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	665						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGTGTTCTCCGTGGCGCCCC	0.597000													19	113					0	0	0.008871	0	0
GDF5	8200	broad.mit.edu	37	20	34025293	34025293	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:34025293G>A	ENST00000374372.1	-	3	919	c.416C>T	c.(415-417)tCt>tTt	p.S139F	GDF5_ENST00000374369.3_Missense_Mutation_p.S139F			P43026	GDF5_HUMAN	growth differentiation factor 5	139					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)			GCTGGGGACAGATCCTGCTTT	0.652000													7	110					0	0	0.003080	0	0
ESYT1	23344	broad.mit.edu	37	12	56536866	56536866	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:56536866A>G	ENST00000394048.5	+	28	3317	c.3053A>G	c.(3052-3054)aAg>aGg	p.K1018R	ESYT1_ENST00000267113.4_Missense_Mutation_p.K1028R|ESYT1_ENST00000541590.1_Missense_Mutation_p.K1028R	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1018	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGCCAGACAAGAACCGAGGC	0.512000													11	67					0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	125052167	125052167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:125052167G>A	ENST00000522917.1	+	20	2715	c.2509G>A	c.(2509-2511)Ggc>Agc	p.G837S	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G837S|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	837	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAAGCCCGGGGCCTCATCGC	0.507000													12	79					0	0	0.013537	0	0
PPEF1	5475	broad.mit.edu	37	X	18775836	18775836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:18775836C>T	ENST00000361511.4	+	8	982	c.488C>T	c.(487-489)cCc>cTc	p.P163L	PPEF1_ENST00000544635.1_Missense_Mutation_p.P98L|PPEF1_ENST00000543630.1_Missense_Mutation_p.P163L|PPEF1_ENST00000359763.6_Missense_Mutation_p.P110L|PPEF1_ENST00000349874.5_Missense_Mutation_p.P163L	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	163	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAAACTTCTCCCTCCAAAGAG	0.408000													17	133					0	0	0.008871	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774132	31774132	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:31774132G>A	ENST00000543095.2	-	32	5402	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1734S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1447S|HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1734S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1734							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACACTGCAGGAAGTTCGGAA	0.418000													5	29					0	0	0.000602	0	0
ROS1	6098	broad.mit.edu	37	6	117609820	117609820	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:117609820G>A	ENST00000368508.3	-	43	7077	c.6879C>T	c.(6877-6879)ggC>ggT	p.G2293G	ROS1_ENST00000368507.3_Silent_p.G2287G	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2293					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCCTGGGAGCCTAGAGGAC	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	56					0	0	0.006122	0	0
RREB1	6239	broad.mit.edu	37	6	7230144	7230144	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:7230144C>T	ENST00000379938.2	+	10	2349	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	RREB1_ENST00000334984.6_Silent_p.A604A|RREB1_ENST00000349384.6_Silent_p.A604A|RREB1_ENST00000379933.3_Silent_p.A604A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	604					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCATCGAGGCCCTGCTGCCGC	0.677000													10	20					0	0	0.006214	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378900	55378900	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:55378900C>T	ENST00000398661.2	-	6	709	c.578G>A	c.(577-579)gGa>gAa	p.G193E	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G163E|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G131E|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.G131E	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	193							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAAATTTTCCCATACTTTC	0.368000													6	20					0	0	0.003080	0	0
PADI2	11240	broad.mit.edu	37	1	17395641	17395641	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:17395641G>A	ENST00000375486.4	-	16	1959	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.I516I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	632					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AAATGTCGTCGATGAAGGTGC	0.597000													19	86					0	0	0.014323	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157909	26157909	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:26157909C>T	ENST00000325250.1	+	2	994	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	269	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GCTATGAATTCCTGTGGGGTC	0.502000													4	13					0	0	0.009096	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P					nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													3	21					0	0	0.009096	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				13	43					0	0	0.001855	0	0
CLK3	1198	broad.mit.edu	37	15	74919947	74919947	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:74919947A>G	ENST00000395066.3	+	9	1885	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.D327G|CLK3_ENST00000352989.5_Missense_Mutation_p.D304G	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	475	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCACATTTGACCATGAGCAC	0.562000													7	121					0	0	0.001984	0	0
SF3B3	23450	broad.mit.edu	37	16	70605701	70605701	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:70605701C>T	ENST00000302516.5	+	26	3850	c.3639C>T	c.(3637-3639)acC>acT	p.T1213T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1213					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATATCCGGACCCGCTACGCCT	0.547000													4	45					0	0	0.001168	0	0
TBX22	50945	broad.mit.edu	37	X	79286459	79286459	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:79286459C>T	ENST00000442340.1	+	9	1542	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	TBX22_ENST00000373291.1_Missense_Mutation_p.S351F|TBX22_ENST00000373294.5_Missense_Mutation_p.S471F|TBX22_ENST00000373296.3_Missense_Mutation_p.S471F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	471					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTCATCCTTCCTATGACTTT	0.368000													10	27					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	215844631	215844631	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:215844631C>T	ENST00000366943.2	-	64	14202	c.13816G>A	c.(13816-13818)Gaa>Aaa	p.E4606K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4606K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4606	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCGTATTTCATACCTTCAG	0.418000										HNSCC(13;0.011)			6	22					0	0	0.001168	0	0
DNMT1	1786	broad.mit.edu	37	19	10254590	10254590	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:10254590G>A	ENST00000340748.4	-	28	3155	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	DNMT1_ENST00000540357.1_Missense_Mutation_p.R974W|DNMT1_ENST00000359526.4_Missense_Mutation_p.R990W			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	974	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGTATTTCCGGTAGTGCTCT	0.557000													4	145					0	0	0.009096	0	0
ZFP41	286128	broad.mit.edu	37	8	144332571	144332571	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:144332571C>T	ENST00000330701.4	+	2	927	c.558C>T	c.(556-558)ctC>ctT	p.L186L	ZFP41_ENST00000520584.1_Silent_p.L186L|ZFP41_ENST00000522452.1_Silent_p.L186L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	186					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCTGTCTCATCCGCCATC	0.632000													19	66					0	0	0.008871	0	0
OR2M3	127062	broad.mit.edu	37	1	248366969	248366969	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:248366969C>T	ENST00000456743.1	+	1	638	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATTCTTTTCATCTGCTGTA	0.443000													15	119					0	0	0.003163	0	0
DMBT1	1755	broad.mit.edu	37	10	124399744	124399744	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:124399744C>T	ENST00000338354.3	+	52	6850	c.6744C>T	c.(6742-6744)gtC>gtT	p.V2248V	DMBT1_ENST00000359586.6_Silent_p.V968V|DMBT1_ENST00000368955.3_Silent_p.V2238V|DMBT1_ENST00000368909.3_Silent_p.V2248V|DMBT1_ENST00000330163.4_Silent_p.V1620V|DMBT1_ENST00000368956.2_Silent_p.V1620V|DMBT1_ENST00000344338.3_Silent_p.V2238V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2248	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.V2248V(2)|p.V2377V(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGAGGAAGTCCAGTATGGCA	0.473000													13	126					0	0	0.007413	0	0
OR6V1	346517	broad.mit.edu	37	7	142750017	142750017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142750017G>A	ENST00000418316.1	+	1	601	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCGCCTGTTGGAATTCTGGGA	0.522000													30	140					0	0	0.007291	0	0
HUWE1	10075	broad.mit.edu	37	X	53642794	53642794	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:53642794C>T	ENST00000342160.3	-	21	2417	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	HUWE1_ENST00000262854.6_Missense_Mutation_p.D654N|HUWE1_ENST00000218328.8_Missense_Mutation_p.D654N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	654					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATGCAGTATCCCCTTAAGGC	0.423000													5	17					0	0	0.000602	0	0
NLRP13	126204	broad.mit.edu	37	19	56419221	56419221	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:56419221C>T	ENST00000588751.1	-	7	2408	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	NLRP13_ENST00000342929.3_Missense_Mutation_p.G795E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	795							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GACAGTCATTCCCAGCTTGTT	0.488000													9	78					0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858800	9858800	+	Silent	SNP	G	G	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:9858800G>T	ENST00000396573.2	-	14	2910	c.2601C>A	c.(2599-2601)atC>atA	p.I867I	GRIN2A_ENST00000535259.1_Silent_p.I710I|GRIN2A_ENST00000396575.2_Silent_p.I867I|GRIN2A_ENST00000562109.1_Silent_p.I867I|GRIN2A_ENST00000330684.3_Silent_p.I867I|GRIN2A_ENST00000404927.2_Silent_p.I867I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	867					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCAGCTGTAGATGCCCTGTA	0.468000													6	75					0.00116845	0.00164662	0.001168	1	0
PAK7	57144	broad.mit.edu	37	20	9624918	9624918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:9624918C>T	ENST00000378429.3	-	4	605	c.59G>A	c.(58-60)aGg>aAg	p.R20K	PAK7_ENST00000353224.5_Missense_Mutation_p.R20K|PAK7_ENST00000378423.1_Missense_Mutation_p.R20K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	20	CRIB.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGTATGAACCCTGTGTTCAAA	0.468000													8	40					0	0	0.006214	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114505	53114505	+	Splice_Site	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:53114505T>G	ENST00000375442.4	+	5	1370		c.e5+2			NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2						cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAAGAAACGGTAATGGGAGTT	0.443000													6	36					0	0	0.001984	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349760	36349760	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:36349760C>T	ENST00000360202.5	+	4	714	c.516C>T	c.(514-516)ttC>ttT	p.F172F	KIRREL2_ENST00000347900.6_Silent_p.F122F|KIRREL2_ENST00000592409.1_Silent_p.F172F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Silent_p.F172F|KIRREL2_ENST00000262625.7_Silent_p.F172F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	172	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			GAGCCACCTTCCATCAGGTCA	0.557000													10	52					0	0	0.010729	0	0
TRPS1	7227	broad.mit.edu	37	8	116427011	116427011	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:116427011T>A	ENST00000395715.3	-	7	3702	c.3125A>T	c.(3124-3126)cAc>cTc	p.H1042L	TRPS1_ENST00000520276.1_Missense_Mutation_p.H1033L|TRPS1_ENST00000220888.5_Missense_Mutation_p.H1029L|TRPS1_ENST00000519076.1_Missense_Mutation_p.H783L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1029	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CATCCTTTTGTGAATATCCAG	0.448000									Langer-Giedion syndrome				5	61					0	0	0.000602	0	0
CEP170B	283638	broad.mit.edu	37	14	105355980	105355980	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:105355980A>G	ENST00000453495.1	+	13	4099	c.3871A>G	c.(3871-3873)Agc>Ggc	p.S1291G	CEP170B_ENST00000418279.1_Missense_Mutation_p.S1185G|CEP170B_ENST00000556508.1_Missense_Mutation_p.S1220G|CEP170B_ENST00000414716.3_Missense_Mutation_p.S1255G					centrosomal protein 170B																		GAGGGCTGGCAGCTCCAGCCG	0.662000													8	29					0	0	0.004482	0	0
OR13C5	138799	broad.mit.edu	37	9	107361332	107361332	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:107361332G>A	ENST00000374779.2	-	1	456	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCACATAGCGGTCAAAGGCCA	0.517000													14	74					0	0	0.004007	0	0
MYH7	4625	broad.mit.edu	37	14	23888691	23888691	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:23888691C>A	ENST00000355349.3	-	28	4016		c.e28+1			NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTAGGCTCACCATTCTCGGT	0.597000													14	85					1.3612e-06	1.95045e-06	0.003163	1	0
WDR36	134430	broad.mit.edu	37	5	110428092	110428092	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:110428092A>G	ENST00000506538.2	+	1	679	c.106A>G	c.(106-108)Aag>Gag	p.K36E	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000513710.2_Missense_Mutation_p.K36E	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	36					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.K36*(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGACACGCTGAAGGGACTGGG	0.627000													4	75					0	0	0.009096	0	0
DNAH10	196385	broad.mit.edu	37	12	124401078	124401078	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:124401078C>T	ENST00000409039.3	+	62	10468	c.10443C>T	c.(10441-10443)ttC>ttT	p.F3481F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3481	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTTCCTGTTCCGCGATGTTG	0.463000													6	81					0	0	0.001984	0	0
PTPRR	5801	broad.mit.edu	37	12	71286690	71286690	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:71286690G>A	ENST00000283228.2	-	2	578	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	42					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTTATAAATGAATACCGGCT	0.393000													5	65					0	0	0.000602	0	0
AP3M2	10947	broad.mit.edu	37	8	42012230	42012230	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:42012230A>T	ENST00000518421.1	+	3	316	c.25A>T	c.(25-27)Aac>Tac	p.N9Y	AP3M2_ENST00000396926.3_Missense_Mutation_p.N9Y|AP3M2_ENST00000174653.3_Missense_Mutation_p.N9Y|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Missense_Mutation_p.N9Y	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	9					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTTCTTGATCAACTCCTCTGG	0.433000													13	43					0	0	0.002450	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047895	46047895	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:46047895C>T	ENST00000397911.3	+	1	856	c.807C>T	c.(805-807)tcC>tcT	p.S269S	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	269						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCTGTGTGTCCCTTCTCTGCC	0.706000													13	51					0	0	0.003163	0	0
XPO1	7514	broad.mit.edu	37	2	61711117	61711117	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:61711117T>C	ENST00000401558.2	-	21	3359	c.2632A>G	c.(2632-2634)Atc>Gtc	p.I878V	XPO1_ENST00000406957.1_Missense_Mutation_p.I878V|XPO1_ENST00000404992.2_Missense_Mutation_p.I878V|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	878					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GCCCAAATGATGGAATCCAAA	0.353000			Mis		CLL								4	66					0	0	0.000602	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975989	76975989	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:76975989G>A	ENST00000409911.1	-	3	1831	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	LRRTM4_ENST00000409884.1_Silent_p.I535I|LRRTM4_ENST00000409093.1_Silent_p.I535I	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	535						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCAGTACCCGATCACAGGCT	0.537000													4	41					0	0	0.000602	0	0
APOL4	80832	broad.mit.edu	37	22	36587781	36587781	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:36587781A>C	ENST00000332987.1	-	7	808	c.386T>G	c.(385-387)aTt>aGt	p.I129S	APOL4_ENST00000352371.1_Missense_Mutation_p.I132S|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	133					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GACCTTTTCAATCTCATTTGC	0.463000													6	43					0	0	0.001984	0	0
SORCS3	22986	broad.mit.edu	37	10	106737111	106737111	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:106737111C>T	ENST00000369701.3	+	4	1041	c.814C>T	c.(814-816)Cct>Tct	p.P272S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	272						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTCAGTGATCCTGAGATGGA	0.388000													4	46					0	0	0.000602	0	0
MUC17	140453	broad.mit.edu	37	7	100678986	100678986	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:100678986C>T	ENST00000306151.4	+	3	4353	c.4289C>T	c.(4288-4290)tCt>tTt	p.S1430F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1430	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGACCACTTCTGCTGAAGCC	0.498000													32	266					0	0	0.003271	0	0
JAM2	58494	broad.mit.edu	37	21	27071113	27071113	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:27071113C>T	ENST00000480456.1	+	5	1069	c.519C>T	c.(517-519)atC>atT	p.I173I	JAM2_ENST00000425221.2_Silent_p.I137I|JAM2_ENST00000400532.1_Silent_p.I173I|JAM2_ENST00000312957.5_Silent_p.I173I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	173	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.I173I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGATGGCATCCGTTTGCTAG	0.438000													11	34					0	0	0.013537	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	10					0	0	0.009096	0	0
AOX1	316	broad.mit.edu	37	2	201488594	201488594	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:201488594T>G	ENST00000374700.2	+	19	2253	c.2012T>G	c.(2011-2013)gTg>gGg	p.V671G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	671					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGTTCTGTGTGGGTCAGCTT	0.488000													7	109					0	0	0.003080	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145222	55145222	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:55145222T>G	ENST00000370862.3	+	6	1421	c.1085T>G	c.(1084-1086)aTt>aGt	p.I362S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	362					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.I362N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCGAATCCAATTATTTATAAT	0.388000													6	45					0	0	0.001168	0	0
CYP4F22	126410	broad.mit.edu	37	19	15658923	15658923	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:15658923G>A	ENST00000269703.2	+	11	1340	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	CYP4F22_ENST00000601005.2_Missense_Mutation_p.D381N	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	381						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCCCAGGGACGATCTGACTCA	0.532000													20	90					0	0	0.003330	0	0
EGFR	1956	broad.mit.edu	37	7	55214414	55214414	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:55214414C>T	ENST00000275493.2	+	4	717	c.540C>T	c.(538-540)ttC>ttT	p.F180F	EGFR_ENST00000344576.2_Silent_p.F180F|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000454757.2_Silent_p.F127F|EGFR_ENST00000420316.2_Silent_p.F180F|EGFR_ENST00000442591.1_Silent_p.F180F|EGFR_ENST00000342916.3_Silent_p.F180F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	180					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGATGGACTTCCAGAACCACC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			4	28					0	0	0.009096	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057780	46057780	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:46057780C>T	ENST00000380095.1	+	1	508	c.446C>T	c.(445-447)cCt>cTt	p.P149L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	149	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCTGTGTGCCTGTCTGCTCT	0.617000													43	180					0	0	0.010771	0	0
CHD7	55636	broad.mit.edu	37	8	61743013	61743013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:61743013C>T	ENST00000423902.2	+	15	4134	c.3655C>T	c.(3655-3657)Cga>Tga	p.R1219*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1219					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.R1219R(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAATATTACCGAGCCATCCT	0.398000													8	99					0	0	0.003080	0	0
DOCK3	1795	broad.mit.edu	37	3	51370636	51370636	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:51370636C>T	ENST00000266037.9	+	35	3586	c.3563C>T	c.(3562-3564)tCc>tTc	p.S1188F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1188	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGCATTTCCTTTGTGACC	0.532000													28	73					0	0	0.012213	0	0
SCN11A	11280	broad.mit.edu	37	3	38962691	38962691	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:38962691C>T	ENST00000302328.3	-	6	966	c.768G>A	c.(766-768)gtG>gtA	p.V256V	SCN11A_ENST00000456224.3_Silent_p.V256V|SCN11A_ENST00000444237.2_Silent_p.V256V|SCN11A_ENST00000450244.1_Silent_p.V256V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	256					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)	TGAGGATAATCACGTTGACCA	0.532000													27	58					0	0	0.005443	0	0
SPTA1	6708	broad.mit.edu	37	1	158618307	158618307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:158618307C>T	ENST00000368148.3	-	26	3886	c.3706G>A	c.(3706-3708)Gga>Aga	p.G1236R	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1236R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1236					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTATCTCCCAGGGGTACG	0.498000													13	54					0	0	0.013537	0	0
PEX7	5191	broad.mit.edu	37	6	137193340	137193340	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:137193340C>T	ENST00000318471.4	+	8	833	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	251					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTGTAGTTTTCACCATTTCAT	0.303000													10	92					0	0	0.010729	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956328	18956328	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:18956328C>A	ENST00000302797.3	-	1	228	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	2					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGGTTGGATCCATGCTCAGA	0.517000													13	214					7.93312e-07	1.14055e-06	0.002450	1	0
COL11A1	1301	broad.mit.edu	37	1	103470043	103470043	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:103470043C>T	ENST00000358392.2	-	20	2254	c.1935_splice	c.e20-1	p.G646_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G634_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G595_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G518_splice|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	634	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCATCTTCTCCCTGTCATTG	0.289000													3	16					0	0	0.000602	0	0
DYRK3	8444	broad.mit.edu	37	1	206821975	206821975	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:206821975C>A	ENST00000367106.1	+	4	1845	c.1372C>A	c.(1372-1374)Cca>Aca	p.P458T	DYRK3_ENST00000367109.2_Missense_Mutation_p.P478T|DYRK3_ENST00000367108.3_Missense_Mutation_p.P458T|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	478	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCGGGGTCCCCCAGGCAGCAA	0.562000													5	117					0.000602214	0.000851475	0.000602	1	0
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:30936168G>A	ENST00000355537.3	+	2	1846	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V567M(2)		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)					GCGGGAGTACGTGTTAGTGGG	0.532000													10	74					0	0	0.008291	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725032	7725032	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:7725032G>A	ENST00000303635.7	+	9	2632	c.2425G>A	c.(2425-2427)Ggg>Agg	p.G809R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCAGAGGACGGGGCGCGGGC	0.682000			T	WWTR1	epitheliod hemangioendothelioma								27	160					0	0	0.004656	0	0
USPL1	10208	broad.mit.edu	37	13	31232501	31232501	+	Silent	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:31232501T>C	ENST00000255304.4	+	9	2629	c.2287T>C	c.(2287-2289)Tta>Cta	p.L763L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	763					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGTTAAAGGCTTAATAAGCAG	0.363000													9	61					0	0	0.004482	0	0
HUWE1	10075	broad.mit.edu	37	X	53585694	53585694	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:53585694C>T	ENST00000342160.3	-	58	8539	c.8082G>A	c.(8080-8082)agG>agA	p.R2694R	HUWE1_ENST00000262854.6_Silent_p.R2694R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2694					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGTTGTTTCCTGCGCTTCT	0.463000													8	89					0	0	0.003080	0	0
RYK	6259	broad.mit.edu	37	3	133894462	133894462	+	Silent	SNP	A	A	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:133894462A>T	ENST00000427044.2	-	14	1609	c.999T>A	c.(997-999)gcT>gcA	p.A333A	RYK_ENST00000296084.4_Silent_p.A523A			P34925	RYK_HUMAN	receptor-like tyrosine kinase	519	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CCACATCACTAGCGCTAGAGA	0.413000													26	148					0	0	0.006320	0	0
SDHAP1	255812	broad.mit.edu	37	3	195710983	195710983	+	RNA	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:195710983C>T	ENST00000427841.1	-	0	749					NR_003264.2																						GCGGCCTTACCCTCCCGTATA	0.617000													3	9					0	0	0.009096	0	0
OR11H12	440153	broad.mit.edu	37	14	19378555	19378555	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:19378555G>A	ENST00000550708.1	+	1	1034	c.962G>A	c.(961-963)gGa>gAa	p.G321E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	321					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)		AAAGTTCTGGGAAGTTCCAAC	0.363000													13	50					0	0	0.003163	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104332	142104332	+	RNA	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142104332C>T	ENST00000390379.1	-	0	132																											TGGTTCATATCCTGGGCACAC	0.502000													35	66					0	0	0.004289	0	0
NRXN1	9378	broad.mit.edu	37	2	50765512	50765512	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:50765512C>T	ENST00000404971.1	-	11	3481	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.K674K|NRXN1_ENST00000401669.2_Silent_p.K674K|NRXN1_ENST00000406316.2_Silent_p.K674K|NRXN1_ENST00000402717.3_Silent_p.K666K|NRXN1_ENST00000405472.3_Silent_p.K666K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	674					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGCTGTTTCCTTTGAGCAGG	0.483000													74	222					0	0	0.014410	0	0
KCTD10	83892	broad.mit.edu	37	12	109895484	109895484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:109895484C>T	ENST00000228495.6	-	5	759	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.A157T|KCTD10_ENST00000540089.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	160					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AACTTCACGGCTGGCTGTGGG	0.478000													5	36					0	0	0.001168	0	0
CDSN	1041	broad.mit.edu	37	6	31084379	31084379	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:31084379G>A	ENST00000376288.2	-	2	1039	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	338	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGCTGCAAAGGAAGGGACCCC	0.552000													11	43					0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10436609	10436609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:10436609C>T	ENST00000245503.5	-	21	2818	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E812K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	812	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACCTTCTCTCCACCATCCTC	0.433000													4	54					0	0	0.009096	0	0
DNAJB5	25822	broad.mit.edu	37	9	34993368	34993368	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:34993368G>A	ENST00000541010.1	+	1	3150	c.138G>A	c.(136-138)aaG>aaA	p.K46K	DNAJB5_ENST00000454002.2_Silent_p.K118K|DNAJB5_ENST00000545841.1_Silent_p.K46K|DNAJB5_ENST00000312316.5_Silent_p.K46K|DNAJB5_ENST00000453597.3_Silent_p.K160K|DNAJB5_ENST00000335998.3_Silent_p.K80K			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	46	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAAGTTTAAGGAGATTGCAG	0.527000													18	134					0	0	0.004990	0	0
KIAA1244	57221	broad.mit.edu	37	6	138634957	138634957	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:138634957C>T	ENST00000251691.4	+	26	4392	c.4226C>T	c.(4225-4227)cCc>cTc	p.P1409L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1409					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TACAAAATGCCCTTGAAGCCA	0.388000													4	25					0	0	0.001168	0	0
DNAH9	1770	broad.mit.edu	37	17	11865491	11865491	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:11865491A>G	ENST00000262442.3	+	68	13219	c.13151A>G	c.(13150-13152)aAc>aGc	p.N4384S	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Missense_Mutation_p.N696S|DNAH9_ENST00000454412.2_Missense_Mutation_p.N4308S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4384					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACGAAGAAGAACAGAGAAGAG	0.547000													6	50					0	0	0.001168	0	0
AGAP1	116987	broad.mit.edu	37	2	236957783	236957783	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:236957783C>T	ENST00000409538.1	+	15	3104	c.2608C>T	c.(2608-2610)Ctt>Ttt	p.L870F	AGAP1_ENST00000336665.5_Missense_Mutation_p.L605F|AGAP1_ENST00000428334.2_Missense_Mutation_p.L497F|AGAP1_ENST00000304032.7_Missense_Mutation_p.L658F			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	658					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGCACCCACCTTTCCCGAGT	0.557000													4	71					0	0	0.000602	0	0
DAB2	1601	broad.mit.edu	37	5	39377033	39377033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:39377033G>A	ENST00000320816.6	-	12	2323	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	DAB2_ENST00000509337.1_Missense_Mutation_p.P598L|DAB2_ENST00000339788.6_Missense_Mutation_p.P401L|DAB2_ENST00000545653.1_Missense_Mutation_p.P598L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	619					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGGCTGAGGAGGAGTGACCAG	0.532000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	114					0	0	0.012319	0	0
ZNF670	93474	broad.mit.edu	37	1	247202174	247202174	+	Splice_Site	SNP	T	T	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:247202174T>G	ENST00000366503.2	-	3	289		c.e3-2			NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTGTTTCCTAAAAGGTACA	0.333000													4	30					0	0	0.009096	0	0
IGSF1	3547	broad.mit.edu	37	X	130419329	130419329	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:130419329A>C	ENST00000370904.1	-	11	1374	c.464T>G	c.(463-465)tTt>tGt	p.F155C	IGSF1_ENST00000361420.3_Missense_Mutation_p.F164C|IGSF1_ENST00000370900.1_Missense_Mutation_p.F164C|IGSF1_ENST00000370910.1_Missense_Mutation_p.F155C|IGSF1_ENST00000370901.4_Missense_Mutation_p.F164C|IGSF1_ENST00000370903.3_Missense_Mutation_p.F164C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	164	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCTCTTTAAACAGCATGAA	0.498000													11	116					0	0	0.008291	0	0
FGFR1	2260	broad.mit.edu	37	8	38277177	38277177	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:38277177G>A	ENST00000447712.2	-	9	2099	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	FGFR1_ENST00000397108.4_Silent_p.L384L|FGFR1_ENST00000397113.2_Silent_p.L384L|FGFR1_ENST00000425967.3_Silent_p.L417L|FGFR1_ENST00000397091.5_Silent_p.L384L|FGFR1_ENST00000397103.1_Silent_p.L297L|FGFR1_ENST00000356207.5_Silent_p.L297L|FGFR1_ENST00000341462.5_Silent_p.L386L|FGFR1_ENST00000335922.5_Silent_p.L378L|FGFR1_ENST00000326324.6_Silent_p.L295L|FGFR1_ENST00000532791.1_Silent_p.L386L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	386					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGCAGGAGATGAGGAAGGCCC	0.557000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						4	45					0	0	0.009096	0	0
FAM20B	9917	broad.mit.edu	37	1	179041234	179041234	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:179041234G>A	ENST00000263733.4	+	8	1521	c.1185G>A	c.(1183-1185)atG>atA	p.M395I		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	395						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AGTTTGGGATGGACACAGTAC	0.507000													7	24					0	0	0.001984	0	0
LOC146880	146880	broad.mit.edu	37	17	62750560	62750560	+	RNA	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:62750560G>A	ENST00000400873.3	-	0	2053					NR_026899.1																						CGCTGACAAGGAATGGGACTA	0.403000													36	149					0	0	0.005524	0	0
NEU1	4758	broad.mit.edu	37	6	31827574	31827574	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:31827574G>A	ENST00000375631.4	-	6	1299	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	390						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CATACAGGACGTAGAGCTGGG	0.587000													41	633					0	0	0.009718	0	0
DOCK11	139818	broad.mit.edu	37	X	117762225	117762225	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:117762225C>T	ENST00000276204.6	+	34	3838	c.3764C>T	c.(3763-3765)aCt>aTt	p.T1255I	DOCK11_ENST00000276202.7_Missense_Mutation_p.T1255I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1255					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGGGCAACACTGGTGAAAAT	0.383000													7	86					0	0	0.001984	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985569	142985569	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:142985569G>T	ENST00000316549.6	-	16	2121	c.1913C>A	c.(1912-1914)aCt>aAt	p.T638N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	638					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTGACCCAAAGTTTGCTCAAG	0.473000													5	75					3.59834e-05	5.13876e-05	0.001168	1	0
MRPL43	84545	broad.mit.edu	37	10	102746603	102746603	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:102746603T>C	ENST00000318325.2	-	3	421	c.368A>G	c.(367-369)aAc>aGc	p.N123S	MRPL43_ENST00000370234.4_Missense_Mutation_p.N123S|MRPL43_ENST00000370236.1_Missense_Mutation_p.N123S|MRPL43_ENST00000370241.3_Missense_Mutation_p.N123S|MRPL43_ENST00000370242.4_Missense_Mutation_p.N123S|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000342071.1_Missense_Mutation_p.N123S|MRPL43_ENST00000318364.8_Missense_Mutation_p.N123S|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000299179.5_Missense_Mutation_p.N123S	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	123					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GATGCTAGGGTTGTCGGTGTG	0.652000													3	29					0	0	0.000602	0	0
HTRA1	5654	broad.mit.edu	37	10	124268238	124268238	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:124268238G>A	ENST00000368984.3	+	6	1200	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	358	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AATCCCATCTGATAAGATTAA	0.507000													16	75					0	0	0.006122	0	0
SLC7A2	6542	broad.mit.edu	37	8	17407830	17407830	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:17407830G>A	ENST00000470360.1	+	7	956	c.839G>A	c.(838-840)gGa>gAa	p.G280E	SLC7A2_ENST00000522656.1_Missense_Mutation_p.G240E|SLC7A2_ENST00000398090.3_Missense_Mutation_p.G280E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G280E|SLC7A2_ENST00000494857.1_Missense_Mutation_p.G240E			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	240					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGAAAACGGAACAAGTATC	0.443000													10	18					0	0	0.008291	0	0
SMC5	23137	broad.mit.edu	37	9	72938433	72938433	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:72938433G>A	ENST00000361138.5	+	16	2243	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	729					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTGCAATCTTGAAGAGGAAGA	0.318000													11	57					0	0	0.008291	0	0
COL27A1	85301	broad.mit.edu	37	9	116967419	116967419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:116967419G>A	ENST00000356083.3	+	8	2553	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	721	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCACCCCGGAGAACAGGTG	0.647000													6	33					0	0	0.001984	0	0
EXOC3	11336	broad.mit.edu	37	5	446415	446415	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:446415A>T	ENST00000512944.1	+	2	284	c.95A>T	c.(94-96)tAt>tTt	p.Y32F	EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Missense_Mutation_p.Y32F	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	43					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGAGCAGTATCGCAGGAGA	0.612000													6	47					0	0	0.001168	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243589	23243589	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:23243589C>T	ENST00000397532.3	-	8	1744	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	SLC7A7_ENST00000397529.2_Missense_Mutation_p.E407K|SLC7A7_ENST00000555702.1_Missense_Mutation_p.E407K|SLC7A7_ENST00000285850.7_Missense_Mutation_p.E407K|SLC7A7_ENST00000397528.4_Missense_Mutation_p.E407K|SLC7A7_ENST00000554517.1_Missense_Mutation_p.E141K|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	407					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CGATCAGGCTCCTTCCAGCGC	0.507000													9	103					0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	20970677	20970677	+	Silent	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:20970677C>T	ENST00000261383.3	-	54	10649	c.10650G>A	c.(10648-10650)caG>caA	p.Q3550Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3550	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGAGATGGTCTGTGTTCTGG	0.522000													12	109					0	0	0.013537	0	0
MCHR2	84539	broad.mit.edu	37	6	100390835	100390835	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:100390835C>T	ENST00000281806.2	-	4	891	c.577G>A	c.(577-579)Gat>Aat	p.D193N	MCHR2_ENST00000369212.1_Missense_Mutation_p.D193N|MCHR2_ENST00000445970.1_Missense_Mutation_p.D193N	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGAGTACATCGTCAGGGGAT	0.408000													13	31					0	0	0.003163	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982236	9982236	+	Silent	SNP	G	G	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:9982236G>A	ENST00000506583.1	-	7	791	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	SLC2A9_ENST00000309065.3_Silent_p.L192L|SLC2A9_ENST00000264784.3_Silent_p.L221L			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	221					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AGCTCGGGCAGGCCCAGAAGC	0.557000													3	28					0	0	0.004672	0	0
KCNH5	27133	broad.mit.edu	37	14	63453887	63453887	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:63453887C>T	ENST00000322893.7	-	5	720	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	KCNH5_ENST00000420622.2_Missense_Mutation_p.R151Q|KCNH5_ENST00000394968.1_Missense_Mutation_p.R93Q|KCNH5_ENST00000394964.2_Missense_Mutation_p.R93Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	151					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGTGTCAATCGGGCAAATTT	0.378000													7	43					0	0	0.003080	0	0
ALPI	248	broad.mit.edu	37	2	233321104	233321104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:233321104C>T	ENST00000295463.3	+	2	190	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	38					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCAGCTGAGGCCCTGGATGCT	0.637000													16	32					0	0	0.004007	0	0
TNPO1	3842	broad.mit.edu	37	5	72179020	72179021	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:72179020_72179021insA	ENST00000337273.5	+	11	1537_1538	c.1111_1112insA	c.(1111-1113)aatfs	p.N371fs	TNPO1_ENST00000454282.1_Frame_Shift_Ins_p.N321fs|TNPO1_ENST00000523768.1_Frame_Shift_Ins_p.N321fs|TNPO1_ENST00000506351.2_Frame_Shift_Ins_p.N363fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	371	Asp/Glu-rich (acidic).				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		tgatgatgatgaaattgatgat	0.396													7	30	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs72369323		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(367-372)cgcggc>cgGCGcggc	p.123_124insR	C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	123										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777													10	20	---	---	---	---