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
CXADRP3	0	broad.mit.edu	37	18	14478155	14478155	+	RNA	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:14478155C>T	ENST00000581457.1	-	0	1753					NR_024076.1																						ACAGATGAGACGTATGGAGGC	0.413000													8	18					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													3	44					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547539	125547539	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:125547539G>C	ENST00000431078.1	+	18	3174	c.2810G>C	c.(2809-2811)gGa>gCa	p.G937A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	937	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTTGAATGGACAGAAAATG	0.507000													15	30					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789628	3789628	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:3789628C>G	ENST00000262367.5	-	25	5040	c.4231G>C	c.(4231-4233)Gga>Cga	p.G1411R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1411	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1411R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGTGCATTCCAAAAAAGCAG	0.488000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						15	36					0	0	1	0	0
ARHGEF1	0	broad.mit.edu	37	19	42406041	42406041	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:42406041G>A	ENST00000599846.1	+	16	1565	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	ARHGEF1_ENST00000337665.4_Silent_p.L439L|ARHGEF1_ENST00000354532.3_Silent_p.L424L|ARHGEF1_ENST00000347545.4_Silent_p.L391L|ARHGEF1_ENST00000378152.4_Silent_p.L406L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	424	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGCAGAGCTGCTGGTGACAG	0.627000													9	12					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394482	39394482	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:39394482T>C	ENST00000254072.6	+	1	186	c.179T>C	c.(178-180)aTc>aCc	p.I60T		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	60	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCATCTGTGTGACC	0.637000													4	87					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70074085	70074085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:70074085G>A	ENST00000446444.1	-	3	994	c.986C>T	c.(985-987)gCc>gTc	p.A329V	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	329					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGATCTTGGCAAGGGCTGT	0.423000													8	266					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	63					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757877	53757877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:53757877G>A	ENST00000288139.3	+	15	2129	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A651T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A651T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	651					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAGTCCATCGCTTCGCTGTT	0.443000													4	120					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70564682	70564682	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:70564682G>A	ENST00000302516.5	+	4	643	c.432G>A	c.(430-432)ttG>ttA	p.L144L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	144					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)				TGTATATTTTGAACAGAGATG	0.408000													47	87					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124293451	124293451	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:124293451T>C	ENST00000409039.3	+	18	2766	c.2741T>C	c.(2740-2742)aTc>aCc	p.I914T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	914	Stem (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)		ACAAATGAGATCGACAAGATG	0.488000													6	203					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115610018	115610018	+	Silent	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:115610018T>C	ENST00000361384.2	-	2	1763	c.846A>G	c.(844-846)gaA>gaG	p.E282E	DCLRE1A_ENST00000369305.1_Silent_p.E282E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	282					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AATTTATGTGTTCTGAGTTGT	0.378000								Other identified genes with known or suspected DNA repair function					3	95					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852091	38852091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:38852091C>T	ENST00000310803.5	-	2	328	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	51					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCCAGAGACACCATCATTCGG	0.527000													7	29					0	0	1	0	0
TRBV11-1	0	broad.mit.edu	37	7	142224222	142224222	+	RNA	SNP	C	C	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:142224222C>A	ENST00000390367.3	-	0	62																											GACACACCTGCCCCCAGGAGA	0.498000													13	22					1.49906e-05	1.54518e-05	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153660193	153660193	+	Silent	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:153660193C>T	ENST00000369762.2	+	3	367	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	102					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGAGGATTTCACAGCATATG	0.552000											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	367					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18863478	18863478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:18863478T>C	ENST00000446231.2	-	33	5375	c.4963A>G	c.(4963-4965)Aat>Gat	p.N1655D	SMG1_ENST00000389467.3_Missense_Mutation_p.N1655D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1655	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGAAGTAGATTCTGAACTTCA	0.423000													4	54					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072633	23072633	+	Missense_Mutation	SNP	C	C	A	rs34793476		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:23072633C>A	ENST00000428304.2	+	3	521	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	151					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GGGAGGATTCCTGGCCACTTC	0.522000													29	60					1.74197e-06	1.82363e-06	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114156116	114156116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr13:114156116C>T	ENST00000434316.2	+	5	1225	c.866C>T	c.(865-867)aCa>aTa	p.T289I	TMCO3_ENST00000375391.1_Missense_Mutation_p.T289I|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	289						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGGCTATGTACAGCCATAGGA	0.358000													6	83					0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	RP11-143J12.2_ENST00000583081.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-21J18.1_ENST00000579126.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328000													4	152					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180023027	180023027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:180023027A>G	ENST00000367607.3	+	24	5550	c.5132A>G	c.(5131-5133)gAg>gGg	p.E1711G		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1711						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCTTGAAGGAGAAGACTAAG	0.393000													4	58					0	0	1	0	0
FAM5C	0	broad.mit.edu	37	1	190203514	190203514	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:190203514T>A	ENST00000367462.3	-	5	943	c.712A>T	c.(712-714)Att>Ttt	p.I238F	FAM5C_ENST00000534846.1_Missense_Mutation_p.I136F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		238						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAACTGAATCTTATTCTCA	0.383000													21	26					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442014	145442014	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:145442014A>G	ENST00000511217.1	+	9	1992	c.1940A>G	c.(1939-1941)aAt>aGt	p.N647S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.N647S|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	647							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATTTCAGAATTACAGCCCT	0.542000													7	81					0	0	1	0	0
MIR3654	0	broad.mit.edu	37	11	62349058	62349058	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:62349058T>G	ENST00000496634.2	-	3	434	c.389A>C	c.(388-390)gAg>gCg	p.E130A	TUT1_ENST00000308436.7_Missense_Mutation_p.E168A|TUT1_ENST00000476907.1_Missense_Mutation_p.E130A																NS(1)	1						GCTCTGGAACTCCTTCTGCTC	0.652000													8	27					0	0	1	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045628	15045628	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:15045628T>C	ENST00000328085.6	+	8	799	c.799T>C	c.(799-801)Tcc>Ccc	p.S267P	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1									p.S267P(2)									CAAGACACCTTCCGAGTGTCT	0.517000													3	34					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		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)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								7	63					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39806385	39806385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:39806385A>G	ENST00000564288.1	+	39	11204	c.10427A>G	c.(10426-10428)gAa>gGa	p.E3476G	MACF1_ENST00000372915.3_Missense_Mutation_p.E3481G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3481					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGAAATAGAAAAGGTAGCA	0.398000													12	22					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70477663	70477663	+	Splice_Site	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:70477663G>A	ENST00000381280.4	+	8	1110	c.857_splice	c.e8+1	p.R286_splice	SMOC1_ENST00000361956.3_Splice_Site_p.R286_splice	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	286	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACCTCCACACGGTAAGCCCCC	0.617000													3	35					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs146795524		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512000													4	91					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117878948	117878948	+	Silent	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:117878948A>G	ENST00000297338.2	-	2	308	c.21T>C	c.(19-21)gtT>gtC	p.V7V	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	7					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTTTACTGAGAACAAAATGTG	0.408000													3	30					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:2877779G>A	ENST00000355842.3	+	3	1000	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398129.1_Missense_Mutation_p.R46H			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517000													16	24					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527000													11	32					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133730389	133730389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:133730389G>A	ENST00000318560.5	+	3	836	c.455G>A	c.(454-456)cGt>cAt	p.R152H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	152	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TTCTTGGTGCGTGAGAGTGAG	0.557000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								4	54					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468000													52	85					0	0	1	0	0
MBNL3	55796	broad.mit.edu	37	X	131573597	131573597	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:131573597G>A	ENST00000370857.3	-	1	108	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	MBNL3_ENST00000370853.3_Silent_p.L15L|MBNL3_ENST00000370839.3_Silent_p.L15L|MBNL3_ENST00000370844.1_5'UTR			Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	15					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCTAAAGTCAGCCACTTGGTA	0.418000													63	135					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171818	4171818	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:4171818A>C	ENST00000078445.2	+	10	1385	c.1238A>C	c.(1237-1239)aAt>aCt	p.N413T	CREB3L3_ENST00000602257.1_Missense_Mutation_p.N411T|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.N412T|CREB3L3_ENST00000252587.3_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	413					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCTGACCAATTCGACGGAG	0.682000													5	65					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	53					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4910336	4910336	+	Missense_Mutation	SNP	C	C	T	rs139663513		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:4910336C>T	ENST00000320785.5	+	14	1649	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	431					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCCCCCAACACGGAGTCCCAG	0.612000													4	89					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043508	25043508	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627000													9	30					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35389942	35389942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:35389942A>G	ENST00000378495.3	+	24	3169	c.2947A>G	c.(2947-2949)Aag>Gag	p.K983E	UNC13B_ENST00000396787.1_Missense_Mutation_p.K995E|UNC13B_ENST00000378496.4_Missense_Mutation_p.K983E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	983					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGAAGATAAGAATTCCTA	0.493000													7	94					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279873	53279873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:53279873G>A	ENST00000396435.3	-	5	2085	c.1885C>T	c.(1885-1887)Cat>Tat	p.H629Y	IQSEC2_ENST00000375368.5_Missense_Mutation_p.H619Y|IQSEC2_ENST00000375365.2_Missense_Mutation_p.H424Y	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	619	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGTCCCATGGGGGCTGCAG	0.677000													10	22					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242186209	242186209	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:242186209G>A	ENST00000391975.1	-	16	2135	c.1908C>T	c.(1906-1908)tgC>tgT	p.C636C	HDLBP_ENST00000427183.2_Silent_p.C603C|HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000310931.4_Silent_p.C636C	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	636	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGCAGCTTCGCAGTTGGCTC	0.458000													38	71					0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121426350	121426350	+	Splice_Site	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:121426350T>C	ENST00000306185.3	-	6	686	c.393_splice	c.e6-1	p.Y132_splice		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	132					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCTGGAATATACTACATTAA	0.269000													6	16					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149357147	149357147	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:149357147T>C	ENST00000355292.3	-	2	1228	c.866A>G	c.(865-867)aAt>aGt	p.N289S	NR3C2_ENST00000358102.3_Missense_Mutation_p.N289S|NR3C2_ENST00000512865.1_Missense_Mutation_p.N289S|NR3C2_ENST00000344721.4_Missense_Mutation_p.N289S|NR3C2_ENST00000342437.4_Missense_Mutation_p.N289S|NR3C2_ENST00000511528.1_Missense_Mutation_p.N289S			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	289	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGTGACATTATTGGGACTGGA	0.458000													5	43					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54031166	54031166	+	Silent	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:54031166T>C	ENST00000373980.4	+	11	1647	c.1230T>C	c.(1228-1230)cgT>cgC	p.R410R	PRKG1_ENST00000373975.2_Silent_p.R113R|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.R383R|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.R395R	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	395	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCAAGAAACGTCACATTGTGG	0.443000													4	48					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44586810	44586810	+	Silent	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:44586810A>G	ENST00000409936.1	-	2	482	c.45T>C	c.(43-45)agT>agC	p.S15S	PREPL_ENST00000260648.6_Silent_p.S15S|PREPL_ENST00000378520.3_Silent_p.S15S|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000410081.1_Silent_p.S15S|PREPL_ENST00000409272.1_Silent_p.S15S|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000378511.3_Silent_p.S15S	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	15					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTGAGGAATACTATACTTCA	0.363000													5	76					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591258	67591258	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:67591258C>G	ENST00000521381.1	+	14	2372	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	PIK3R1_ENST00000336483.5_Missense_Mutation_p.Q316E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Q286E|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Q223E|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Q586E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	586					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTGGTTGACTCAAAAAGGTGT	0.358000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			12	36					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	ENST00000237623.7	+	4	257	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_ENST00000360804.4_Intron|SPP1_ENST00000395080.3_Missense_Mutation_p.P37S|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	37					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363000													19	44					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905742	129905742	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:129905742G>A	ENST00000368654.3	-	13	4737	c.4362C>T	c.(4360-4362)caC>caT	p.H1454H	MKI67_ENST00000368653.3_Silent_p.H1094H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1454	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGTTTTTGGGTGCCTCTTGC	0.493000													8	191					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287843	16287843	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:16287843T>C	ENST00000343518.6	-	1	94	c.43A>G	c.(43-45)Aag>Gag	p.K15E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	15										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AATGGCTTCTTCACAGAGGAG	0.592000													7	409					0	0	1	0	0
DBC1	0	broad.mit.edu	37	9	121930179	121930179	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:121930179T>C	ENST00000265922.3	-	8	1930	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		490					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGCAGCAGGTACTTCAGCTC	0.582000													3	37					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	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								6	64					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355792	43355792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr20:43355792G>A	ENST00000372865.4	+	3	858	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.T199T|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372868.2_Silent_p.T199T			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	108	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AATGGAGCACGGCCTGGGGAC	0.652000													6	63					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40190520	40190520	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr21:40190520T>C	ENST00000360214.3	+	8	1221	c.761T>C	c.(760-762)gTc>gCc	p.V254A	ETS2_ENST00000360938.3_Missense_Mutation_p.V254A	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	254					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TACTGCTCTGTCAGTCAGGAC	0.512000													25	216					0	0	1	0	0
RPS27A	6233	broad.mit.edu	37	2	55462648	55462648	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:55462648T>C	ENST00000272317.6	+	6	730	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	RPS27A_ENST00000402285.3_Missense_Mutation_p.F136L|RPS27A_ENST00000404735.1_Missense_Mutation_p.F136L	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	136					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						GGCAAGTCACTTTGACAGACA	0.403000													5	106					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034613	52034613	+	Silent	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52034613C>A	ENST00000346477.3	-	2	296	c.228G>T	c.(226-228)gtG>gtT	p.V76V	SIGLEC6_ENST00000425629.3_Silent_p.V76V|SIGLEC6_ENST00000343300.4_Silent_p.V76V|SIGLEC6_ENST00000391797.3_Silent_p.V76V|SIGLEC6_ENST00000436458.1_Silent_p.V40V|SIGLEC6_ENST00000359982.4_Silent_p.V76V	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	76	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGTTTGTGGCCACTGGAACAT	0.582000													25	26					3.01185e-09	3.50026e-09	1	1	0
CXADRP3	0	broad.mit.edu	37	18	14478155	14478155	+	RNA	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:14478155C>T	ENST00000581457.1	-	0	1753					NR_024076.1																						ACAGATGAGACGTATGGAGGC	0.413000													11	16					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045904	80045904	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:80045904A>G	ENST00000306749.2	-	18	3010	c.2792T>C	c.(2791-2793)gTg>gCg	p.V931A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	931					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCCAGGGACACTGTCCCTGC	0.667000													21	27					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197182005	197182005	+	Silent	SNP	G	G	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:197182005G>C	ENST00000260983.2	-	10	2609	c.2427C>G	c.(2425-2427)ctC>ctG	p.L809L	HECW2_ENST00000409111.1_Silent_p.L453L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	809	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACTTGGTGGGAGAGCCTCGT	0.522000													3	6					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618674	618674	+	Missense_Mutation	SNP	C	C	T	rs140290184	by1000genomes	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:618674C>T	ENST00000358353.3	-	14	2207	c.1885G>A	c.(1885-1887)Ggt>Agt	p.G629S	CDHR5_ENST00000397542.2_Missense_Mutation_p.G629S|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	629	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGCCCCCACCGGGTGTGGTT	0.652000													43	290					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139611031	139611031	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:139611031C>G	ENST00000263552.6	+	8	785	c.247C>G	c.(247-249)Ctt>Gtt	p.L83V	TBXAS1_ENST00000455353.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.L15V|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L83V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L82V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000462275.1_3'UTR	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	82					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CAGGTACTATCTTGGTCGTCG	0.378000													7	95					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39063928	39063928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:39063928C>T	ENST00000355481.4	+	95	14226	c.14095C>T	c.(14095-14097)Cga>Tga	p.R4699*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.R4699*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.R4704*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4704					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGTGGGACCGACTGGTGCT	0.612000													15	9					0	0	1	0	0
PRIM1	5557	broad.mit.edu	37	12	57135548	57135548	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:57135548T>A	ENST00000338193.6	-	8	858	c.822A>T	c.(820-822)aaA>aaT	p.K274N		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	274					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TGCTGGCTACTTTCTTCAAGT	0.363000													73	94					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38945493	38945493	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:38945493C>A	ENST00000302328.3	-	12	1903	c.1705G>T	c.(1705-1707)Gtc>Ttc	p.V569F	SCN11A_ENST00000444237.2_Missense_Mutation_p.V569F|SCN11A_ENST00000450244.1_Missense_Mutation_p.V569F|SCN11A_ENST00000456224.3_Missense_Mutation_p.V569F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	569					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)	GTTCTCAGGACCTTCTTAACG	0.498000													25	23					2.41591e-17	2.96812e-17	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72822210	72822210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:72822210T>C	ENST00000268489.5	-	10	10637	c.9965A>G	c.(9964-9966)cAg>cGg	p.Q3322R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q2408R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3322					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCAGGGATCTGGGGAGCATA	0.597000													19	19					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622720	18622720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:18622720G>A	ENST00000379989.3	+	13	1961	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.R559Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	559					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GACTCACGTCGAACCACAACC	0.517000													60	112					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39806385	39806385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:39806385A>G	ENST00000564288.1	+	39	11204	c.10427A>G	c.(10426-10428)gAa>gGa	p.E3476G	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G|MACF1_ENST00000372915.3_Missense_Mutation_p.E3481G|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3481					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGAAATAGAAAAGGTAGCA	0.398000													14	2					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852091	38852091	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:38852091C>T	ENST00000310803.5	-	2	328	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	51					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCCAGAGACACCATCATTCGG	0.527000													16	27					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215875098	215875098	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:215875098A>G	ENST00000272895.7	-	18	2648	c.2429T>C	c.(2428-2430)tTg>tCg	p.L810S	ABCA12_ENST00000389661.4_Missense_Mutation_p.L492S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	810					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGGTGCATACAAAATTCTTCC	0.363000													10	53					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196624	207196624	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:207196624C>A	ENST00000359470.5	-	4	734	c.485G>T	c.(484-486)gGg>gTg	p.G162V	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	162						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CGCAAGCCTCCCCGGTTCTCC	0.602000													23	57					1.50039e-11	1.79213e-11	1	1	0
GPR128	84873	broad.mit.edu	37	3	100374763	100374763	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:100374763G>T	ENST00000273352.3	+	13	2015	c.1747G>T	c.(1747-1749)Gct>Tct	p.A583S	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A288S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	583					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATAGTAGTGGCTATAACAGT	0.318000													6	58					0.000157383	0.000170609	1	1	0
NFATC3	4775	broad.mit.edu	37	16	68156046	68156046	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:68156046A>T	ENST00000349223.5	+	2	484	c.260A>T	c.(259-261)gAa>gTa	p.E87V	NFATC3_ENST00000575270.1_Missense_Mutation_p.E87V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.E87V|NFATC3_ENST00000329524.4_Missense_Mutation_p.E87V|RP11-67A1.2_ENST00000548144.1_RNA	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	87					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAAAACTATGAAGGAACTTGT	0.403000													7	89					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527000													20	24					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49690976	49690976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:49690976C>A	ENST00000257860.4	+	5	2415	c.916C>A	c.(916-918)Cgc>Agc	p.R306S	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	306	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CGAGGCCCTGCGCCAGGCCAA	0.667000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	54					6.20203e-27	7.84375e-27	1	1	0
PLAC1L	0	broad.mit.edu	37	11	59811058	59811058	+	Silent	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:59811058C>A	ENST00000278855.2	+	2	366	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	PLAC1L_ENST00000532905.1_Silent_p.R30R	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		61						extracellular region		p.R61R(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						CCCTGCAAATCGGATACATAC	0.388000													33	25					2.80507e-11	3.31976e-11	1	1	0
KCTD17	79734	broad.mit.edu	37	22	37457617	37457617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:37457617G>A	ENST00000403888.3	+	8	845	c.844G>A	c.(844-846)Gca>Aca	p.A282T	KCTD17_ENST00000402077.3_Missense_Mutation_p.A258T			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	282	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GGCTGAGCTTGCAGTGAGGGC	0.692000													10	11					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107904570	107904570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:107904570C>T	ENST00000393094.2	+	2	683	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	23					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GGATTTTATGCGCCCGATTGT	0.328000													3	31					0	0	1	0	0
SSTR3	0	broad.mit.edu	37	22	37602752	37602752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:37602752C>T	ENST00000328544.3	-	2	1624	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	SSTR3_ENST00000402501.1_Missense_Mutation_p.G364E	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	364					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCCCTTGCCCCCCTCCCTGCT	0.701000													3	22					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721257	222721257	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:222721257G>T	ENST00000343410.6	-	1	188	c.130C>A	c.(130-132)Cag>Aag	p.Q44K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	44					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAGGCACTGGGGGTGTCCC	0.607000													10	34					9.70103e-10	1.13767e-09	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48311571	48311571	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:48311571A>G	ENST00000435803.1	+	17	2332	c.2308A>G	c.(2308-2310)Ata>Gta	p.I770V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	770					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATTCTGAATATAAGTTCTCT	0.383000													12	14					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540450	187540450	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:187540450C>G	ENST00000441802.2	-	10	7499	c.7290G>C	c.(7288-7290)ctG>ctC	p.L2430L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2430	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTGCCAGACAGAATGGAAT	0.463000										HNSCC(5;0.00058)			57	1					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63031545	63031545	+	Splice_Site	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:63031545A>T	ENST00000561311.1	+	30	3917		c.e30-1		TLN2_ENST00000306829.6_Splice_Site|TLN2_ENST00000559908.1_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGTTCCCCACAGCTACCTCCA	0.542000													15	14					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789628	3789628	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:3789628C>G	ENST00000262367.5	-	25	5040	c.4231G>C	c.(4231-4233)Gga>Cga	p.G1411R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1411	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1411R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGTGCATTCCAAAAAAGCAG	0.488000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						21	28					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799998	52799998	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:52799998C>G	ENST00000257974.2	-	1	141	c.64G>C	c.(64-66)Gct>Cct	p.A22P		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	22	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCATGACAGCCGAGTATGAG	0.637000													8	9					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738640	8738640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:8738640C>A	ENST00000311434.9	-	8	834	c.595G>T	c.(595-597)Gcg>Tcg	p.A199S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	199					platelet activation	cytosol											CCCAGAGCCGCCTGCAGGGCG	0.672000													9	10					0.000673444	0.000717969	1	1	0
VPS52	6293	broad.mit.edu	37	6	33236285	33236285	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:33236285G>A	ENST00000445902.2	-	7	908	c.690C>T	c.(688-690)ctC>ctT	p.L230L	VPS52_ENST00000436044.2_Silent_p.L105L|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	230					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTGACCCGGAGCCGATCGA	0.582000													26	19					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61304147	61304147	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:61304147A>G	ENST00000402291.1	+	6	765	c.524A>G	c.(523-525)tAc>tGc	p.Y175C	KIAA1841_ENST00000356719.2_Missense_Mutation_p.Y175C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Y175C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.Y175C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	175										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAATGAAGTACTTTGCTGAA	0.383000													46	39					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232045	132232045	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:132232045T>A	ENST00000265343.5	-	11	2656	c.2277A>T	c.(2275-2277)aaA>aaT	p.K759N	AFF4_ENST00000378595.3_Missense_Mutation_p.K759N	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	759					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTTGGAAACTTTTTCTGAGG	0.428000													50	52					0	0	1	0	0
EMP1	2012	broad.mit.edu	37	12	13364518	13364518	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:13364518C>G	ENST00000256951.5	+	2	273	c.74C>G	c.(73-75)gCc>gGc	p.A25G	EMP1_ENST00000396301.3_Missense_Mutation_p.A25G|EMP1_ENST00000537612.1_Missense_Mutation_p.A25G|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	25					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AGCACCATTGCCAATGTGAGT	0.373000													37	63					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844817	47844817	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:47844817T>A	ENST00000595464.1	+	2	979	c.761T>A	c.(760-762)cTg>cAg	p.L254Q	C5AR2_ENST00000257267.2_Missense_Mutation_p.L254Q|C5AR2_ENST00000600626.1_Missense_Mutation_p.L254Q	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		CTGCTGGGGCTGGTGCTCACT	0.682000													35	37					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189401	167189401	+	Silent	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:167189401A>T	ENST00000476257.1	-	3	520	c.222T>A	c.(220-222)acT>acA	p.T74T	SERPINI2_ENST00000264677.4_Silent_p.T74T|SERPINI2_ENST00000471111.1_Silent_p.T74T|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Silent_p.T74T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	74					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GTTGTTTTAAAGTTTGTCTTA	0.373000													28	52					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111732709	111732709	+	Silent	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:111732709C>T	ENST00000374595.4	-	10	1492	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	CTNNAL1_ENST00000325551.4_Silent_p.E471E|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	471					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GAAATGTCTCCTCTGCATGTA	0.408000													6	36					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	6					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043508	25043508	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627000													11	11					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5391581	5391581	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:5391581C>T	ENST00000399537.4	-	17	5687	c.5339G>A	c.(5338-5340)aGg>aAg	p.R1780K	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1780K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1780							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCAGGCCCCTCTTGGTCAG	0.652000													21	17					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26083505	26083505	+	Splice_Site	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:26083505G>A	ENST00000324198.5	+	11	1020	c.826_splice	c.e11-1	p.G276_splice		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	276	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGATTCCAGGGGGCGATTTGC	0.403000													8	114					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105920531	105920531	+	Splice_Site	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:105920531A>G	ENST00000331320.7	+	7	648	c.432_splice	c.e7-1	p.D145_splice	MTA1_ENST00000406191.1_Splice_Site_p.D145_splice|MTA1_ENST00000405646.1_Splice_Site_p.D128_splice	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	145	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTTTTCCAGGATTTCTTCTTC	0.567000													9	16					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41251830	41251830	+	Missense_Mutation	SNP	C	C	A	rs80357264		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:41251830C>A	ENST00000357654.3	-	7	627	c.509G>T	c.(508-510)cGg>cTg	p.R170L	BRCA1_ENST00000346315.3_Missense_Mutation_p.R170L|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R123L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R170L|BRCA1_ENST00000354071.3_Missense_Mutation_p.R170L|BRCA1_ENST00000352993.3_Missense_Mutation_p.R170L|BRCA1_ENST00000351666.3_Missense_Mutation_p.R170L|BRCA1_ENST00000471181.2_Missense_Mutation_p.R170L|BRCA1_ENST00000468300.1_Missense_Mutation_p.R170L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	170					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R170Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGTTGTATCCGCTGCTTTGT	0.383000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			81	106					1.48072e-28	1.89121e-28	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33684007	33684007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:33684007C>T	ENST00000504830.1	-	4	1123	c.788G>A	c.(787-789)gGg>gAg	p.G263E	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	263	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTCTCACTCCCATGGTATTC	0.512000										HNSCC(64;0.19)			45	70					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3678686	3678686	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:3678686T>C	ENST00000404826.2	+	3	648	c.509T>C	c.(508-510)gTg>gCg	p.V170A	SDK1_ENST00000389531.3_Missense_Mutation_p.V170A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	170	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACCGCTGCGTGGTGCGAAAC	0.408000													3	9					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039052	143039052	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:143039052A>G	ENST00000343257.2	+	15	1700	c.1613A>G	c.(1612-1614)cAc>cGc	p.H538R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	538					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCGTTTCCCACACAGTCTCC	0.527000													15	40					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37653954	37653954	+	Silent	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr20:37653954T>C	ENST00000252011.3	+	18	1786	c.1753T>C	c.(1753-1755)Ttg>Ctg	p.L585L	DHX35_ENST00000373323.4_Silent_p.L554L|DHX35_ENST00000373325.2_Silent_p.L585L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	585						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGAGAACAATTGAAAAAGCT	0.448000													78	68					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680977	33680977	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:33680977A>C	ENST00000394566.1	-	6	1572	c.1300T>G	c.(1300-1302)Ttc>Gtc	p.F434V	SLFN11_ENST00000308377.4_Missense_Mutation_p.F434V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	434						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCCGAAAGAAAGGTTGCATT	0.468000													42	49					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73550053	73550053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:73550053C>A	ENST00000224721.6	+	45	5952	c.5947C>A	c.(5947-5949)Ctc>Atc	p.L1983I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1978	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGCACCCCTCTCACGGTGCT	0.652000													15	16					9.16793e-09	1.0466e-08	1	1	0
LRP6	4040	broad.mit.edu	37	12	12397495	12397495	+	Silent	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:12397495C>T	ENST00000261349.4	-	2	226	c.150G>A	c.(148-150)ttG>ttA	p.L50L	LRP6_ENST00000543091.1_Silent_p.L50L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	50	Beta-propeller 1.				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)				CTGCATCCTCCAAGCCTCCAA	0.448000													30	26					0	0	1	0	0
C5orf24	134553	broad.mit.edu	37	5	134190664	134190664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:134190664C>T	ENST00000394976.3	+	2	302	c.74C>T	c.(73-75)gCc>gTc	p.A25V	C5orf24_ENST00000435259.2_Missense_Mutation_p.A25V|C5orf24_ENST00000338051.4_Missense_Mutation_p.A25V|C5orf24_ENST00000504727.1_Missense_Mutation_p.A25V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	25										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGAAGATGCCATGAGAGCT	0.448000													4	140					0	0	1	0	0
C20orf112	140688	broad.mit.edu	37	20	31040136	31040136	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr20:31040136G>A	ENST00000359676.5	-	7	1135	c.993C>T	c.(991-993)taC>taT	p.Y331Y	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	331										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGCCGTTGGCGTACACAGGGT	0.627000													34	35					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9484929	9484929	+	Splice_Site	SNP	C	C	T	rs143591778		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:9484929C>T	ENST00000281419.3	+	11	1363	c.1023_splice	c.e11+1	p.T341_splice	ASAP2_ENST00000315273.4_Splice_Site_p.T341_splice	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	341	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCATGGTACCGTAAGTATTC	0.423000													23	28					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73220023	73220023	+	Silent	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:73220023G>T	ENST00000541685.1	-	3	262	c.250C>A	c.(250-252)Cga>Aga	p.R84R	DPF3_ENST00000546183.1_Silent_p.R94R|DPF3_ENST00000556509.1_Silent_p.R84R	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	84					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGTGCAATCGTCTCTTCTTG	0.557000													6	19					0.00116845	0.00123549	1	1	0
TRBV11-1	0	broad.mit.edu	37	7	142224222	142224222	+	RNA	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:142224222C>A	ENST00000390367.3	-	0	62																											GACACACCTGCCCCCAGGAGA	0.498000													12	14					9.05144e-12	1.10154e-11	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204415197	204415197	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:204415197C>G	ENST00000367187.3	-	17	3121	c.2565G>C	c.(2563-2565)ctG>ctC	p.L855L	PIK3C2B_ENST00000424712.2_Intron	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	855					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGCGAGCACCAGGGGGAGCG	0.617000											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	36					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720733	140720733	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:140720733T>A	ENST00000394576.2	+	1	2195	c.2195T>A	c.(2194-2196)tTg>tAg	p.L732*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCAGCTTGACAGGCATG	0.642000													65	55					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79580866	79580866	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:79580866C>A	ENST00000372391.2	-	15	3381	c.3376G>T	c.(3376-3378)Gta>Tta	p.V1126L	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1126					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAATCACTACTGGAGCAAGC	0.602000													18	26					1.67942e-08	1.90039e-08	1	1	0
ADAM10	102	broad.mit.edu	37	15	58957369	58957369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:58957369C>T	ENST00000260408.3	-	5	955	c.512G>A	c.(511-513)gGg>gAg	p.G171E	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	171					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)		TGCACAGCCCCCCTGAGGACC	0.363000													61	69					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													5	172					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161138906	161138906	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:161138906G>T	ENST00000367999.4	+	7	1006	c.740G>T	c.(739-741)aGg>aTg	p.R247M	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R247M|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	247					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGACTAGTAGGGGGGTCAGT	0.607000													28	32					1.06801e-11	1.2876e-11	1	1	0
SKOR1	390598	broad.mit.edu	37	15	68123211	68123211	+	Silent	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:68123211C>A	ENST00000380035.2	+	5	2629	c.2571C>A	c.(2569-2571)atC>atA	p.I857I	SKOR1_ENST00000389002.1_Silent_p.I813I|SKOR1_ENST00000554054.1_Silent_p.I829I|SKOR1_ENST00000554240.1_Silent_p.I818I|SKOR1_ENST00000341418.5_Silent_p.I760I			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	857					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AGAAAGATATCGAGAACCTGG	0.507000													69	59					2.84776e-26	3.56661e-26	1	1	0
PCDHB3	0	broad.mit.edu	37	5	140482548	140482548	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:140482548C>A	ENST00000231130.2	+	1	2315	c.2315C>A	c.(2314-2316)cCc>cAc	p.P772H		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATTATCCCCAACTTCGTT	0.517000													13	55					7.33628e-21	9.09981e-21	1	1	0
EMC7	56851	broad.mit.edu	37	15	34380269	34380269	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:34380269A>T	ENST00000256545.4	-	4	669	c.561T>A	c.(559-561)gaT>gaA	p.D187E		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		TCATGTCAGGATCACTTGTGT	0.388000													9	14					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16450976	16450976	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:16450976T>A	ENST00000334133.4	-	4	619	c.347A>T	c.(346-348)gAt>gTt	p.D116V	RFTN1_ENST00000432519.1_Missense_Mutation_p.D80V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	116						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTGAAGATCAGTTTTCTG	0.428000													30	24					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242186209	242186209	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:242186209G>A	ENST00000391975.1	-	16	2135	c.1908C>T	c.(1906-1908)tgC>tgT	p.C636C	HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000310931.4_Silent_p.C636C|HDLBP_ENST00000427183.2_Silent_p.C603C	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	636	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGCAGCTTCGCAGTTGGCTC	0.458000													59	53					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197784834	197784834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:197784834G>A	ENST00000354764.3	-	2	302	c.188C>T	c.(187-189)gCa>gTa	p.A63V	PGAP1_ENST00000409475.1_Missense_Mutation_p.A63V|PGAP1_ENST00000409188.1_Missense_Mutation_p.A21V|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	63					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAACTCATATGCGGGATAGCG	0.363000													53	65					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27401048	27401048	+	Splice_Site	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:27401048T>C	ENST00000326799.3	-	20	2328	c.2178_splice	c.e20-1	p.D727_splice	YME1L1_ENST00000375972.3_Splice_Site_p.D637_splice|YME1L1_ENST00000376016.3_Splice_Site_p.D670_splice	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	727					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCATATGAGTCCTGAAACAG	0.388000													25	29					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684421	100684421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:100684421C>A	ENST00000306151.4	+	3	9788	c.9724C>A	c.(9724-9726)Ctt>Att	p.L3242I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3242	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)					GGCTAGCATCCTTTCAACAAC	0.502000													5	377					0.014758	0.014758	1	1	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													13	71					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106090959	106090959	+	RNA	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:106090959A>C	ENST00000390543.2	-	0	837																											GAGCCGTCGGAGTCCAGCACG	0.602000													91	184					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857278	113857278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:113857278C>A	ENST00000504030.2	+	7	1189	c.744C>A	c.(742-744)agC>agA	p.S248R	HTR3A_ENST00000299961.5_Missense_Mutation_p.S233R|HTR3A_ENST00000535865.1_De_novo_Start_InFrame|HTR3A_ENST00000355556.2_Missense_Mutation_p.S254R|HTR3A_ENST00000375498.2_Missense_Mutation_p.S254R|HTR3A_ENST00000506841.2_Missense_Mutation_p.S248R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	248					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ATGTGGTCAGCCTGCTACTGC	0.602000													4	26					0.00909568	0.00931224	1	1	0
SPP1	6696	broad.mit.edu	37	4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	ENST00000237623.7	+	4	257	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.P37S	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	37					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363000													33	1					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697606	36697606	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:36697606T>G	ENST00000216181.5	-	21	2835	c.2605A>C	c.(2605-2607)Acg>Ccg	p.T869P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	869				T -> M (in Ref. 7; AAA36349).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCATCTCCGTGAGCCTGTTC	0.642000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	19					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56499192	56499192	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:56499192C>G	ENST00000291971.3	+	10	3131	c.3060C>G	c.(3058-3060)gcC>gcG	p.A1020A	NLRP8_ENST00000590542.1_Silent_p.A1001A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1020						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTATTCCTGCCTGGACTCGAA	0.488000													14	8					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182829136	182829136	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:182829136G>A	ENST00000367549.3	+	12	1259	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	383					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGATCTTGCAGGAGAGAGAGT	0.393000													24	81					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696404	109696404	+	Silent	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:109696404A>T	ENST00000465301.2	+	3	2805	c.2559A>T	c.(2557-2559)acA>acT	p.T853T	RGAG1_ENST00000540313.1_Silent_p.T853T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	853										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAAGATCCACAGCCTCTGGAG	0.522000													81	104					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62396692	62396692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:62396692C>A	ENST00000346178.4	-	17	1991	c.1976G>T	c.(1975-1977)gGg>gTg	p.G659V	GANAB_ENST00000540933.1_Missense_Mutation_p.G540V|GANAB_ENST00000356638.3_Missense_Mutation_p.G637V|GANAB_ENST00000534779.1_Missense_Mutation_p.G545V	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	637					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCCCACCAGCCCCAAGCTGAG	0.547000													37	34					5.73237e-09	6.60246e-09	1	1	0
PIWIL3	440822	broad.mit.edu	37	22	25115444	25115444	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:25115444G>C	ENST00000332271.5	-	21	3060	c.2644C>G	c.(2644-2646)Ctt>Gtt	p.L882V	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L764V|PIWIL3_ENST00000533313.1_Missense_Mutation_p.L764V	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	882					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCAGGTCAAAGGTAAAAGAGA	0.483000													46	46					0	0	1	0	0
RAB4B-EGLN2	0	broad.mit.edu	37	19	41289912	41289912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:41289912A>G	ENST00000594136.1	+	5	467	c.362A>G	c.(361-363)aAc>aGc	p.N121S	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Missense_Mutation_p.N121S|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.N121S																							CTCTGTGGCAACAAGAAGGAC	0.627000													12	14					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482078	38482078	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:38482078C>A	ENST00000263409.4	-	20	3075	c.2913G>T	c.(2911-2913)caG>caT	p.Q971H	LIFR_ENST00000453190.2_Missense_Mutation_p.Q971H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	971					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTAAATAACCTGTGCAGTCC	0.468000			T	PLAG1	salivary adenoma								5	140					0.014758	0.014758	1	1	0
RNF217	154214	broad.mit.edu	37	6	125283939	125283939	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:125283939A>G	ENST00000521654.2	+	1	249	c.249A>G	c.(247-249)gcA>gcG	p.A83A	RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000560949.1_5'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGAGCCGAGCACCGGCGCAGC	0.711000													13	17					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7912636	7912636	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:7912636C>G	ENST00000270530.4	+	3	352	c.156C>G	c.(154-156)tcC>tcG	p.S52S	EVI5L_ENST00000538904.2_Silent_p.S52S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	52						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGGCCGACTCCAAGTCCATGC	0.662000													16	20					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	102					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48760142	48760142	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:48760142C>G	ENST00000316623.5	-	38	5195	c.4740G>C	c.(4738-4740)gtG>gtC	p.V1580V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1580	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TACATGTGTTCACAGCAGGAC	0.438000													19	34					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468000													52	56					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310451	178310451	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:178310451A>T	ENST00000322434.3	+	5	1224	c.998A>T	c.(997-999)aAg>aTg	p.K333M		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCAGGAAGGCATCCAGT	0.393000													37	20					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19765480	19765480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:19765480C>T	ENST00000357324.6	-	13	1711	c.1685G>A	c.(1684-1686)aGc>aAc	p.S562N	ATP13A1_ENST00000291503.5_Missense_Mutation_p.S444N|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	562					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACAGGGATGCTGGACACTGG	0.632000													17	20					0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377623	54377623	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:54377623C>G	ENST00000391769.2	+	3	1120	c.840C>G	c.(838-840)agC>agG	p.S280R	MYADM_ENST00000391768.2_Missense_Mutation_p.S280R|MYADM_ENST00000391770.4_Missense_Mutation_p.S280R|MYADM_ENST00000391771.1_Missense_Mutation_p.S280R|MYADM_ENST00000336967.3_Missense_Mutation_p.S280R	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TAAGCTGCAGCCGCAGCCATG	0.617000													17	18					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs146795524		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512000													5	82					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66538845	66538845	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:66538845A>G	ENST00000592554.1	-	6	1640	c.918T>C	c.(916-918)ttT>ttC	p.F306F	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	306						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CTGGAGAGACAAAGAAAACAC	0.522000													28	46					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:2877779G>A	ENST00000355842.3	+	3	1000	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398129.1_Missense_Mutation_p.R46H			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517000													28	30					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141719066	141719066	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:141719066A>G	ENST00000475668.2	+	4	449	c.395A>G	c.(394-396)tAt>tGt	p.Y132C	MGAM_ENST00000549489.2_Missense_Mutation_p.Y132C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	132	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTGCTACTATTCCAAGAAT	0.507000													29	37					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11133611	11133611	+	Splice_Site	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:11133611G>T	ENST00000409790.1	+	14	1768	c.1537_splice	c.e14-1	p.G513_splice	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Splice_Site_p.G495_splice	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	513								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGTTCCAGGCATGGATCCT	0.532000													3	7					0.004672	0.0048215	1	1	0
BCAN	63827	broad.mit.edu	37	1	156617454	156617454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:156617454G>T	ENST00000329117.4	+	4	957	c.621G>T	c.(619-621)tgG>tgT	p.W207C	BCAN_ENST00000361588.5_Missense_Mutation_p.W207C|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	207	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCTGGCTGGCTGTCGGATC	0.662000													5	70					8.12818e-05	8.96184e-05	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56499191	56499191	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:56499191C>A	ENST00000291971.3	+	10	3130	c.3059C>A	c.(3058-3060)gCc>gAc	p.A1020D	NLRP8_ENST00000590542.1_Missense_Mutation_p.A1001D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1020						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTATTCCTGCCTGGACTCGA	0.488000													14	7					5.01169e-05	5.57335e-05	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90034507	90034507	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:90034507C>G	ENST00000317005.2	+	1	540	c.382C>G	c.(382-384)Cga>Gga	p.R128G		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	128	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CTGGCTAACTCGATTTAAGCA	0.428000													34	2					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773724	151773724	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:151773724A>C	ENST00000535741.1	-	23	3611	c.3138T>G	c.(3136-3138)gaT>gaG	p.D1046E	LRBA_ENST00000357115.3_Missense_Mutation_p.D1046E|LRBA_ENST00000510413.1_Missense_Mutation_p.D1046E|LRBA_ENST00000507224.1_Missense_Mutation_p.D1046E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1046						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTCTAAATCATCTGCATTCC	0.358000													72	1					0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228230942	228230942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:228230942A>G	ENST00000304568.3	-	3	305	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	90						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		ATCACACTGAAAAGTGATGAA	0.383000													4	57					0	0	1	0	0
M6PR	4074	broad.mit.edu	37	12	9096440	9096440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:9096440C>T	ENST00000000412.3	-	4	878	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	137					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		CACTGCACGACGCTGCTCCTT	0.522000													30	30					0	0	1	0	0
SSMEM1	136263	broad.mit.edu	37	7	129855965	129855965	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:129855965G>A	ENST00000297819.3	+	3	441	c.390G>A	c.(388-390)agG>agA	p.R130R		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GACGAGCCAGGCGCCAGTCTC	0.483000													19	20					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347994	156347994	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:156347994G>A	ENST00000400992.2	+	4	749	c.381G>A	c.(379-381)caG>caA	p.Q127Q	RHBG_ENST00000255013.3_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000451864.2_Silent_p.Q127Q|RHBG_ENST00000537040.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	177					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCTGAGCCAGGAGCGTGGGG	0.632000													17	24					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217148	4217148	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:4217148C>A	ENST00000600132.1	+	18	2267	c.1991C>A	c.(1990-1992)cCc>cAc	p.P664H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.P664H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P754H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	664										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGCAGAGCCCCCAGTCACA	0.607000													8	10					0.000157383	0.000170609	1	1	0
MUC16	94025	broad.mit.edu	37	19	9085338	9085338	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:9085338A>G	ENST00000397910.4	-	1	6680	c.6477T>C	c.(6475-6477)ctT>ctC	p.L2159L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2159	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGATGTAAGGCCAGAAA	0.488000													28	29					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197080595	197080595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:197080595A>G	ENST00000260983.2	-	28	4783	c.4601T>C	c.(4600-4602)cTt>cCt	p.L1534P	HECW2_ENST00000409111.1_Missense_Mutation_p.L1178P	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1534	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTACCTGGGAAGAGCAGTGAT	0.368000													21	35					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89989876	89989876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:89989876C>T	ENST00000405460.2	+	33	7399	c.7303C>T	c.(7303-7305)Ccc>Tcc	p.P2435S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2435					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGTGGGGGAGCCCCTGTATAC	0.493000													16	15					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38785176	38785176	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:38785176T>C	ENST00000348513.6	-	11	1877	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G	SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D296G|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D331G|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D348G|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D296G|KRT222_ENST00000476049.1_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	366	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				ACTCTCCTTGTCCTCAGGAGT	0.517000													49	36					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6475898	6475898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:6475898C>A	ENST00000381480.2	-	11	841	c.729G>T	c.(727-729)tgG>tgT	p.W243C	DENND1C_ENST00000543576.1_Missense_Mutation_p.W199C	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	243	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCACGTGCTCCCAGCGCATGG	0.721000													3	2					0.004672	0.0048215	1	1	0
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													58	160	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													3	3	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cct>cGCAct	p.226_226P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													4	6	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													2	4	---	---	---	---					
CSTF2T	23283	broad.mit.edu	37	10	53459220	53459222	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:53459220_53459222delCTC	ENST00000331173.4	-	1	133_135	c.88_90delGAG	c.(88-90)del	p.E30del	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	30	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCTTTAACTGCTCCTCAGTTGCC	0.512													48	117	---	---	---	---					
DEAF1	10522	broad.mit.edu	37	11	678724	678726	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:678724_678726delCTT	ENST00000382409.3	-	9	1707_1709	c.1223_1225delAAG	c.(1222-1227)gct>g	p.EA408del	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_In_Frame_Del_p.EA319del	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	408	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCAACGCAGCTTCTGGAAACGG	0.522													36	115	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(127-132)gggctg>ggGGCTGTGGCTCCgctg	p.43_44GL>GAVAPL		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713													31	23	---	---	---	---					
AGAP2	116986	broad.mit.edu	37	12	58124659	58124659	+	Frame_Shift_Del	DEL	C	C	-	rs113544406		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:58124659delC	ENST00000257897.3	-	11	1300	c.1215delG	c.(1213-1215)ccfs	p.P405fs	AGAP2_ENST00000547588.1_Frame_Shift_Del_p.P741fs	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	741	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						AGATGGCCCTCGGGGGCCGCT	0.587													8	17	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	11001040	11001042	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:11001040_11001042delTTG	ENST00000324288.8	+	11	1824_1826	c.1691_1693delTTG	c.(1690-1695)tag>t	p.FE564del	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	564	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GACGCCCTATTTGAGCTGTCCGG	0.631			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								12	16	---	---	---	---					
CTD-2547E10.2	0	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													2	4	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													8	52	---	---	---	---					
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)del	p.DPEALKGFHPDPKALKGFHP318del	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681													12	17	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136030244	136030245	+	RNA	INS	-	-	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:136030244_136030245insT	ENST00000424306.1	+	0	2052																											TGAGAACCTGCTTTTTTTTTTT	0.441													3	3	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17721696	17721698	+	RNA	DEL	TTT	TTT	-	rs35197313		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:17721696_17721698delTTT	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTTTTCttgttttttttttttt	0.483													3	4	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54148051	54148051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:54148051delG	ENST00000404125.1	-	18	2292	c.2237delC	c.(2236-2238)ctfs	p.P747fs	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	747					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)			TTCAGAAGGAGGCTTGTCAAA	0.378													8	52	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													28	107	---	---	---	---					
POLN	353497	broad.mit.edu	37	4	2172436	2172437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:2172436_2172437insA	ENST00000511885.2	-	13	1876_1877	c.1523_1524insT	c.(1522-1524)tcafs	p.S508fs	POLN_ENST00000382865.1_Frame_Shift_Ins_p.S508fs|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	508					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGTATTTCTGCAACCCCGTTCT	0.436								DNA polymerases (catalytic subunits)					7	124	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													4	2	---	---	---	---					
PTCRA	171558	broad.mit.edu	37	6	42890769	42890769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:42890769delG	ENST00000304672.1	+	2	144	c.63delG	c.(61-63)gtfs	p.V21fs	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	21						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TTGCAGGTGTGGGCGGCACAC	0.562													23	14	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													3	4	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aatcaafs	p.NQ533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTCCTTGAATTTTTTTTTAT	0.455													8	169	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)del	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													7	3	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(127-132)gggctg>ggGGCTGTGGCTCCgctg	p.43_44GL>GAVAPL		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713													120	50	---	---	---	---					
GANAB	23193	broad.mit.edu	37	11	62397884	62397884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:62397884delC	ENST00000346178.4	-	13	1561	c.1546delG	c.(1546-1548)atfs	p.D516fs	GANAB_ENST00000540933.1_Frame_Shift_Del_p.D397fs|GANAB_ENST00000534779.1_Frame_Shift_Del_p.D402fs|GANAB_ENST00000356638.3_Frame_Shift_Del_p.D494fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	494					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCAGAGCCATCCCGGGTTTTA	0.597													24	26	---	---	---	---					
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:5603608_5603609insC	ENST00000423158.3	+	2	479_480	c.267_268insC	c.(265-270)ggccgcfs	p.R90fs	NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	77					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579													14	51	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													10	42	---	---	---	---					
RP5-991G20.1	0	broad.mit.edu	37	16	72763868	72763868	+	RNA	DEL	C	C	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:72763868delC	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAA	0.433													2	4	---	---	---	---					
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)del	p.DPEALKGFHPDPKALKGFHP318del	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681													7	29	---	---	---	---					
ZNF280C	55609	broad.mit.edu	37	X	129377549	129377573	+	Frame_Shift_Del	DEL	ATTCTCAACAGTAACAGAGCTTTGT	ATTCTCAACAGTAACAGAGCTTTGT	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:129377549_129377573delATTCTCAACAGTAACAGAGCTTTGT	ENST00000370978.4	-	5	498_522	c.345_369delACAAAGCTCTGTTACTGTTGAGAAT	c.(343-369)tcfs	p.SQSSVTVEN115fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	115	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTTTAGACGCATTCTCAACAGTAACAGAGCTTTGTGAAGATTTAG	0.400													8	85	---	---	---	---					
