Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KCNMA1	3778	broad.mit.edu	37	10	78649263	78649263	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr10:78649263C>A	uc001jxn.3	-	26	3584	c.3407G>T	c.(3406-3408)gGa>gTa	p.G1136V	KCNMA1_uc021ptu.1_Missense_Mutation_p.G1028V|KCNMA1_uc001jxj.2_Missense_Mutation_p.G1082V|KCNMA1_uc001jxk.1_Missense_Mutation_p.G754V|KCNMA1_uc009xrt.1_Missense_Mutation_p.G927V|KCNMA1_uc001jxl.1_Missense_Mutation_p.G761V|KCNMA1_uc001jxo.3_Missense_Mutation_p.G1119V|KCNMA1_uc001jxm.3_Missense_Mutation_p.G1078V|KCNMA1_uc001jxq.3_Missense_Mutation_p.G1108V|BC030624_uc001jxp.3_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1136					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGTAAATTCCAAAACAAAG	0.443000														6			22		2.50493e-22	2.77332e-22	1	1	0
PDK2	5164	broad.mit.edu	37	17	48184157	48184157	+	Splice_Site	SNP	G	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:48184157G>C	uc002iqc.3	+	5	679	c.518_splice	c.e5-1	p.T173_splice	PDK2_uc002iqb.3_Splice_Site_p.T109_splice|PDK2_uc021tzx.1_Splice_Site_p.T109_splice	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	173	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCTGCCTGCAGCCCTCATCTT	0.582000									Autosomal Dominant Polycystic Kidney Disease					5			52		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84996301	84996301	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:84996301A>G	uc001pak.2	-	3	461	c.149T>C	c.(148-150)cTt>cCt	p.L50P		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA.	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.S50F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCACGGAGCAAGAAGGGATGT	0.368000														212			5		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49771038	49771038	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr13:49771038A>T	uc001vcm.3	+	19	2557	c.2252A>T	c.(2251-2253)gAt>gTt	p.D751V	FNDC3A_uc001vcn.3_Missense_Mutation_p.D751V|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.D695V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	751	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GAAAAATGTGATATTACTACA	0.388000														6			38		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25255781	25255781	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr13:25255781T>C	uc010aaa.3	+	1	424	c.91T>C	c.(91-93)Tat>Cat	p.Y31H	ATP12A_uc001upp.3_Missense_Mutation_p.Y31H	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	31					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAAGGAGAAGTATAGGGGTCT	0.473000														7			38		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433374	138433374	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:138433374G>T	uc011bmq.2	-	6	1238	c.1238C>A	c.(1237-1239)aCg>aAg	p.T413K	PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.T17K	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	413	C2 PI3K-type.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.T413T(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGATTTCTTCGTTTTTACTTT	0.318000														184			6		2.17888e-05	2.2146e-05	1	1	0
SYN3	8224	broad.mit.edu	37	22	33327400	33327400	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:33327400C>T	uc003amx.3	-	2	598	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SYN3_uc003amy.3_Missense_Mutation_p.V146M|SYN3_uc003amz.3_Missense_Mutation_p.V146M	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	146	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.V146M(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCATTTCTCACGACCTGCATG	0.478000														78			75		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509879	71509879	+	Silent	SNP	C	T	T	rs143333113	by1000genomes	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:71509879C>T	uc011caw.1	+	8	3017	c.2736C>T	c.(2734-2736)gaC>gaT	p.D912D		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	912					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.D912D(2)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTATACAGACGGTAGTCATA	0.493000														121			8		0	0	1	0	0
RASSF10	644943	broad.mit.edu	37	11	13031416	13031416	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:13031416G>A	uc021qdz.1	+	0	447	c.293G>A	c.(292-294)cGc>cAc	p.R98H		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	98	Ras-associating.				signal transduction										Epithelial(150;0.00399)		GAGAAGTGGCGCGGCTTTGAG	0.662000														65			3		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88444148	88444148	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:88444148C>T	uc001tar.3	-	52	7536	c.7192G>A	c.(7192-7194)Gaa>Aaa	p.E2398K	CEP290_uc001taq.3_Missense_Mutation_p.E1458K	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2398					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.D2398Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGCTGCTTTTCTAGATCTGAC	0.299000														35			33		0	0	1	0	0
IKBKG	8517	broad.mit.edu	37	X	153770612	153770612	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrX:153770612G>C	uc011mzr.2	+	0	154	c.134G>C	c.(133-135)aGa>aCa	p.R45T	G6PD_uc004flx.1_Intron|G6PD_uc004fly.1_Intron	NM_001099856	NP_003630	Q9Y6K9	NEMO_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), transcript variant 2, mRNA.	0	Interaction with CHUK/IKBKB.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	2	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)					GGTGGGGAAAGATGCTGTTCC	0.572000														53			4		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658559	72658559	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:72658559C>T	uc003txs.1	-	12	1353	c.425G>A	c.(424-426)gGg>gAg	p.G142E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ccataagttcccagctaggtc	0.473000														458			6		0	0	1	0	0
FAM174B	400451	broad.mit.edu	37	15	93173567	93173567	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:93173567T>C	uc010boe.3	-	1	495	c.353A>G	c.(352-354)aAg>aGg	p.K118R	FAM174B_uc002bsl.4_Non-coding_Transcript	NM_207446	NP_997329	Q3ZCQ3	F174B_HUMAN	Homo sapiens family with sequence similarity 174, member B (FAM174B), mRNA.	118						integral to membrane				endometrium(2)|lung(1)	3						CTTTAACCTCTTTCCCGACCT	0.512000														136			5		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998171	115998171	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:115998171G>A	uc003ibu.3	-	1	701	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	8						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.R8W(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAACTTCTCCGAAGTTTCACA	0.348000														102			6		0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2829115	2829115	+	Splice_Site	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chrY:2829115G>A	uc004fqj.3	+	3	383	c.62_splice	c.e3-1	p.G21_splice	ZFY_uc010nwd.1_Splice_Site_p.G21_splice|ZFY_uc011nan.2_Intron|ZFY_uc010nwe.3_Splice_Site	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						ATTCTTTAAGGAGCTGATGCT	0.318000														10			14		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58004276	58004276	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004276C>T	uc002aem.3	+	12	1530	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.L54F|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.L285F|GCOM1_uc002aeu.4_Missense_Mutation_p.L128F	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA.	356					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TAAGCAGCATCTTGATGACAT	0.488000														242			6		0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	129180458	129180458	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:129180458G>A	uc021rgn.1	+	6	1739	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	580						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GCCACCGTGCGGGTCCTCACC	0.642000														22			24		0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48518686	48518686	+	Silent	SNP	C	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:48518686C>G	uc001zwn.4	+	4	858	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SLC12A1_uc010uew.1_Silent_p.L20L|SLC12A1_uc010bem.3_Intron|SLC12A1_uc010uex.2_Silent_p.L214L|SLC12A1_uc001zwq.4_5'UTR|SLC12A1_uc001zwr.4_5'UTR	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	214					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGGAGTTCTCATAATTCTTC	0.373000														292			6		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950855	24950855	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:24950855G>T	uc002dnb.3	-	16	1647	c.1554C>A	c.(1552-1554)caC>caA	p.H518Q	ARHGAP17_uc002dmy.3_5'Flank|ARHGAP17_uc002dmz.3_Missense_Mutation_p.H42Q|ARHGAP17_uc002dna.3_Missense_Mutation_p.H245Q|ARHGAP17_uc002dnc.3_Intron|ARHGAP17_uc010vcf.2_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	518					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CGGGGGATATGTGCTTTCTAT	0.592000														31			20		4.59853e-10	4.83235e-10	1	1	0
ZFP62	643836	broad.mit.edu	37	5	180276712	180276712	+	Nonsense_Mutation	SNP	C	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:180276712C>A	uc011dhf.2	-	1	1850	c.1783G>T	c.(1783-1785)Gag>Tag	p.E595*	ZFP62_uc011dhe.2_Nonsense_Mutation_p.E562*|ZFP62_uc003mmm.4_Intron|ZFP62_uc010jlk.3_Nonsense_Mutation_p.E562*|ZFP62_uc021yjo.1_Nonsense_Mutation_p.E562*	NM_001172638	NP_001166109	Q8NB50	ZFP62_HUMAN	Homo sapiens zinc finger protein 62 homolog (mouse) (ZFP62), transcript variant 2, mRNA.	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGCCTTCTCACACTCGTCA	0.413000														64			24		6.44725e-10	6.66216e-10	1	1	0
HAS2	3037	broad.mit.edu	37	8	122626903	122626903	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:122626903A>G	uc003yph.2	-	3	1643	c.1105T>C	c.(1105-1107)Ttt>Ctt	p.F369L		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	369						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTTTGTGAAACCACATTGCA	0.448000														106			4		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550602	144550602	+	Silent	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:144550602G>A	uc003yyd.2	-	6	2084	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	685					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGCAGCGCTCGCCACGGTTGC	0.672000														58			26		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148583133	148583133	+	Silent	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:148583133T>C	uc003ewm.3	+	0	91	c.39T>C	c.(37-39)acT>acC	p.T13T		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	13					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTGCTACCACTCTTGCAATTG	0.458000														184			5		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														113			4		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42684852	42684852	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:42684852C>A	uc001zpn.1	+	6	1267	c.961C>A	c.(961-963)Cag>Aag	p.Q321K	CAPN3_uc001zpk.1_Missense_Mutation_p.Q94K|CAPN3_uc001zpl.1_Missense_Mutation_p.Q234K|CAPN3_uc010udf.1_Missense_Mutation_p.Q234K|CAPN3_uc010udg.1_Missense_Mutation_p.Q186K|CAPN3_uc001zpo.1_Missense_Mutation_p.Q321K|CAPN3_uc001zpp.1_Missense_Mutation_p.Q273K	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	321	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTCCGGTTCAGTATGAGAC	0.547000														72			43		1.86277e-20	2.02617e-20	1	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217340073	217340073	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:217340073A>G	uc002vgc.4	+	14	2656	c.2326A>G	c.(2326-2328)Agg>Ggg	p.R776G	SMARCAL1_uc002vgd.4_Missense_Mutation_p.R776G|SMARCAL1_uc010fvg.3_Missense_Mutation_p.R754G	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	776	Helicase C-terminal.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.E775G(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACTGTCGGAGAGGCATGCTGT	0.607000									Schimke Immuno-Osseous Dysplasia					69			4		0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613379	613379	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:613379C>T	uc002chk.3	+	1	364	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	29										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTACATCCCGCGGCCCTGGGG	0.617000														68			3		0	0	1	0	0
APOA1	335	broad.mit.edu	37	11	116707862	116707862	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:116707862G>A	uc001ppv.1	-	2	93	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	19					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGAAATGCCGAGCCTGGCTC	0.632000														29			31		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887663	7887663	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:7887663T>C	uc001aop.3	+	16	2898	c.2674T>C	c.(2674-2676)Tcg>Ccg	p.S892P	PER3_uc009vmg.1_Missense_Mutation_p.S892P|PER3_uc009vmh.1_Missense_Mutation_p.S885P|PER3_uc001aoo.3_Missense_Mutation_p.S884P|PER3_uc010nzw.2_Missense_Mutation_p.S573P	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	884	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTCAATGTCGTCAGCAAT	0.567000														87			4		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383357	109383357	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:109383357A>G	uc002tem.4	+	19	6488	c.6362A>G	c.(6361-6363)cAg>cGg	p.Q2121R		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2121	RanBD1 2.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	p.Q2121R(9)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAACTAGAGCAGTTGGCAGCA	0.453000														18			4		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8424203	8424203	+	Silent	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:8424203C>T	uc001ape.3	-	15	2463	c.1653G>A	c.(1651-1653)ccG>ccA	p.P551P	RERE_uc001apf.3_Silent_p.P551P|RERE_uc010nzx.1_Silent_p.P283P|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	551					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TAAACGGTGGCGGGTCCACGG	0.602000														59			4		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321548	40321548	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:40321548G>A	uc002hzb.2	-	8	1870	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	513					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAGTATTCGAGCATGCGCTGC	0.647000														39			11		0	0	1	0	0
CCDC154	645811	broad.mit.edu	37	16	1493884	1493884	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:1493884G>A	uc010uve.2	-	1	304	c.137C>T	c.(136-138)tCg>tTg	p.S46L		NM_001143980	NP_001137452			Homo sapiens coiled-coil domain containing 154 (CCDC154), mRNA.											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						ATACCTCTCCGAGAGCTCCTC	0.672000														36			31		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170913	24170913	+	Silent	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:24170913T>C	uc003xdy.3	+	5	479	c.396T>C	c.(394-396)agT>agC	p.S132S	ADAM28_uc003xdx.3_Silent_p.S132S|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	132					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTACTTCAGTCAGGGGGATC	0.383000														63			112		0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12399324	12399324	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:12399324A>G	uc001mki.3	+	0	299	c.130A>G	c.(130-132)Aag>Gag	p.K44E	PARVA_uc001mkh.3_Missense_Mutation_p.K84E	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	44					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GAAGAAAGCCAAGGAGGGTGA	0.716000														33			3		0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117013533	117013533	+	Silent	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:117013533A>G	uc003pxh.3	+	3	449	c.318A>G	c.(316-318)aaA>aaG	p.K106K		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	103					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CAACACAGAAATTTAGAAAGC	0.274000														210			5		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124692706	124692706	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:124692706C>G	uc011bke.2	-	16	4233	c.4165G>C	c.(4165-4167)Gat>Cat	p.D1389H	HEG1_uc003ehr.4_Missense_Mutation_p.D143H|HEG1_uc003ehs.4_Missense_Mutation_p.D1289H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1289						extracellular region|integral to membrane	calcium ion binding	p.D1289Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATTTGGAAATCTCCACTTTTG	0.373000														189			69		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59894911	59894911	+	Silent	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:59894911T>C	uc003jsh.3	-	9	1492	c.1419A>G	c.(1417-1419)aaA>aaG	p.K473K	DEPDC1B_uc011cqm.2_Intron|DEPDC1B_uc011cqn.2_Intron	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	473	Poly-Lys.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CCTGCTTCAGTTTCTTCTTTT	0.343000														155			4		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634949	6634949	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:6634949G>A	uc001ant.3	+	2	853	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.D175N	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	253					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGTGGGCGATGAGAGGAT	0.612000														9			34		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248894	20248894	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20248894G>A	uc010tku.2	+	0	413	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCATGAATCGACGTCTCTGC	0.522000														677			9		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875422	30875422	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:30875422C>T	uc003cep.2	-	10	1020	c.973G>A	c.(973-975)Gac>Aac	p.D325N	GADL1_uc003ceq.1_Missense_Mutation_p.D325N	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	325					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCCACAGAGTCAGCCCTATTG	0.443000														175			4		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58004208	58004208	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004208C>G	uc002aem.3	+	12	1462	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.S31C|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.S262C|GCOM1_uc002aeu.4_Missense_Mutation_p.S105C	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA.	337					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AATGATTCATCTAGTCATTGC	0.403000														247			6		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5334542	5334542	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:5334542C>T	uc003sod.3	+	5	757	c.596C>T	c.(595-597)aCg>aTg	p.T199M	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.T199M|SLC29A4_uc003soe.3_Missense_Mutation_p.T185M	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	199					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AAGCGGTACACGCAGGGGGTG	0.617000														60			49		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923831	92923831	+	Silent	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:92923831G>A	uc003kkj.3	+	1	2359	c.672G>A	c.(670-672)gcG>gcA	p.A224A	NR2F1_uc021ybj.1_Silent_p.A173A|NR2F1_uc021ybk.1_Silent_p.A199A	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	224					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGCTGGCCGCGCGCCTGCTCT	0.657000														88			10		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58004287	58004287	+	Silent	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:58004287C>T	uc002aem.3	+	12	1541	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Silent_p.I57I|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Silent_p.I288I|GCOM1_uc002aeu.4_Silent_p.I131I	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA.	359					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTGATGACATCACAGCAGCTC	0.483000														249			6		0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69140526	69140526	+	Silent	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:69140526G>A	uc001suh.3	+	0	591	c.369G>A	c.(367-369)caG>caA	p.Q123Q		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	123						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TCTGCTACCAGAAAACCTTCT	0.567000														100			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152642498	152642498	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:152642498G>A	uc021zhb.1	-	81	16334	c.16111C>T	c.(16111-16113)Cga>Tga	p.R5371*	SYNE1_uc003qos.4_5'Flank|SYNE1_uc003qot.4_Nonsense_Mutation_p.R5300*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R5371*|SYNE1_uc010kiz.3_Nonsense_Mutation_p.R1126*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5371					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGTTCTGTCGGTGATTTGTG	0.388000										HNSCC(10;0.0054)				83			3		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349994	100349994	+	Missense_Mutation	SNP	C	A	A	rs221829		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:100349994C>A	uc003uwj.3	+	13	2431	c.2266C>A	c.(2266-2268)Cca>Aca	p.P756T	ZAN_uc003uwk.3_Missense_Mutation_p.P756T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	756	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P756T(13)|p.S755P(3)|p.P756Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.517000														56			6		0.000978159	0.000978159	1	1	0
GABRP	2568	broad.mit.edu	37	5	170239019	170239019	+	Silent	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:170239019C>T	uc003mau.3	+	9	1278	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	360						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCCATCTCCAGCTTTAAAC	0.403000														68			3		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756940	56756940	+	Silent	SNP	T	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr11:56756940T>A	uc010rjp.2	+	0	552	c.552T>A	c.(550-552)atT>atA	p.I184I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTCCCCCTATTCTTGCTCTTT	0.408000														226			188		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220102299	220102299	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:220102299A>G	uc002vkm.3	-	15	1863	c.1624T>C	c.(1624-1626)Tcc>Ccc	p.S542P	GLB1L_uc002vkk.3_Missense_Mutation_p.S299P|GLB1L_uc010zkx.2_Missense_Mutation_p.S452P|GLB1L_uc002vkn.3_Missense_Mutation_p.S542P	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	542					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGTTTTGGAGTAGAATGTG	0.468000														106			5		0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68325151	68325151	+	Silent	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:68325151G>A	uc002evt.2	+	6	1147	c.834G>A	c.(832-834)gtG>gtA	p.V278V	SLC7A6_uc010cfb.2_Intron|SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Silent_p.V278V|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	278					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGCCAATTGTGACGCTCATCT	0.458000														342			5		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367738	107367738	+	Silent	SNP	G	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:107367738G>C	uc011lvq.2	-	0	171	c.171C>G	c.(169-171)acC>acG	p.T57T		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGTACATAGGGGTGTGAAGGT	0.448000														402			34		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171302	207171302	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:207171302G>A	uc002vbp.2	+	4	2300	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	684							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAAGTAGCCGAAATAGAGCG	0.443000														8			64		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24472140	24472140	+	Silent	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:24472140C>T	uc002zzi.1	+	18	2782	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	CABIN1_uc021wnc.1_Silent_p.L835L|CABIN1_uc002zzj.1_Silent_p.L835L|CABIN1_uc002zzl.2_Silent_p.L885L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	885					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGCCCATGCTCCCATCCTCCC	0.582000														53			56		0	0	1	0	0
PALM3	342979	broad.mit.edu	37	19	14164838	14164838	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr19:14164838G>A	uc010xnk.1	-	5	1601	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M		NM_001145028	NP_001138500	A6NDB9	PALM3_HUMAN	Homo sapiens paralemmin 3 (PALM3), mRNA.	534	Glu-rich.				Toll signaling pathway|negative regulation of cytokine-mediated signaling pathway|response to lipopolysaccharide	cytoplasm|plasma membrane	ATP binding|protein binding	p.G533E(1)		endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						ATCTCCCTCCGTCCCTTGGGT	0.547000														122			115		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577064	7577064	+	Nonsense_Mutation	SNP	T	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:7577064T>A	uc002gim.2	-	7	1068	c.874A>T	c.(874-876)Aaa>Taa	p.K292*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.K292*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.K160*|TP53_uc010cnf.1_Nonsense_Mutation_p.K160*|TP53_uc002gii.1_Nonsense_Mutation_p.K160*|TP53_uc010cni.1_Nonsense_Mutation_p.K292*|TP53_uc010cnh.1_Nonsense_Mutation_p.K292*|TP53_uc002gij.2_Nonsense_Mutation_p.K292*|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	292	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K291fs*48(16)|p.0?(8)|p.K291*(5)|p.K292R(5)|p.K292*(4)|p.K292T(4)|p.K292E(4)|p.K291R(3)|p.K291T(3)|p.K291N(3)|p.K292N(3)|p.K292fs*13(2)|p.K291fs*12(2)|p.T284_G293del10(2)|p.K291K(2)|p.R290_P295>X(2)|p.K291E(2)|p.?(2)|p.E294fs*51(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291Q(1)|p.E285fs*13(1)|p.K291M(1)|p.K291fs*54(1)|p.K292K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCTCCCCTTTCTTGCGGAGA	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				1			36		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416696	416696	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:416696T>C	uc001qif.1	-	22	4217	c.3854A>G	c.(3853-3855)gAa>gGa	p.E1285G		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1285					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGCCGCCTGTTCCACCATACG	0.483000			T	NUP98	AML									78			4		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323612	29323612	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr6:29323612C>A	uc011dlo.2	-	0	443	c.361G>T	c.(361-363)Gat>Tat	p.D121Y		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121N(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTAACGATCATATGCCATT	0.403000														63			20		2.89027e-11	3.0896e-11	1	1	0
GALNT2	2590	broad.mit.edu	37	1	230372423	230372423	+	Silent	SNP	T	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:230372423T>C	uc010pwa.1	+	5	631	c.559T>C	c.(559-561)Ttg>Ctg	p.L187L	GALNT2_uc010pvy.1_Silent_p.L149L|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	187	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CGGGGCTCTCTTGGGGAAAAT	0.413000														63			5		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42742931	42742931	+	Silent	SNP	C	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:42742931C>T	uc001zpw.3	-	1	1797	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Silent_p.S273S|ZFP106_uc001zpy.1_Silent_p.S513S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	490						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TGGGCTTGTTCGAGGGATTTG	0.388000														158			113		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784689	90784689	+	Silent	SNP	G	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:90784689G>A	uc002bpc.3	+	3	728	c.549G>A	c.(547-549)ccG>ccA	p.P183P	GDPGP1_uc021suh.1_Silent_p.P183P	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	183					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCCTGCTGCCGGGTGCACTGA	0.662000														41			18		0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228289842	228289843	+	Frame_Shift_Ins	INS	-	C	C	rs1128456	by1000genomes	TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:228289842_228289843insC	uc001hrx.3	-	5	565_566	c.471_472insG	c.(469-474)gggcccfs	p.G157fs	C1orf35_uc009xew.3_Non-coding_Transcript	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	Homo sapiens chromosome 1 open reading frame 35 (C1orf35), mRNA.	157										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GAGGTCCCGGGCCCGCCGCTCT	0.743													---	6	---	---	3	---					
OR2T4	127074	broad.mit.edu	37	1	248524966	248524967	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr1:248524966_248524967insG	uc001ieh.1	+	0	84_85	c.84_85insG	c.(82-87)ccaatgfs	p.P28fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAACATCCAATGGCCAATAT	0.500													---	22	---	---	24	---					
PLGLA	285189	broad.mit.edu	37	2	107002809	107002809	+	RNA	DEL	G	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr2:107002809delG	uc002tdp.3	+	0		c.41delG								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		AGAAGCAGCTGGGGGCAGGAA	0.488													---	922	---	---	8	---					
ERC2	26059	broad.mit.edu	37	3	55984500	55984502	+	In_Frame_Del	DEL	CTT	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr3:55984500_55984502delCTT	uc021wzo.1	-	11	2494_2496	c.2354_2356delAAG	c.(2353-2358)gaagtg>gtg	p.E785del	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.E781del|ERC2_uc003dht.1_In_Frame_Del_p.E264del	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	785						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGCCTGCGCACTTCTTCTAGTAA	0.433													---	26	---	---	161	---					
MAML3	55534	broad.mit.edu	37	4	140811108	140811109	+	In_Frame_Ins	INS	-	TGT	TGT			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr4:140811108_140811109insTGT	uc021xsg.1	-	1	2233_2234	c.1481_1482insACA	c.(1480-1482)cag>caACAg	p.494_494Q>QQ	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgctg	0.540													---	106	---	---	16	---					
APC	324	broad.mit.edu	37	5	112155000	112155001	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr5:112155000_112155001insG	uc003kpz.4	+	10	1464_1465	c.1271_1272insG	c.(1270-1272)cagfs	p.Q424fs	APC_uc011cvt.2_Frame_Shift_Ins_p.Q406fs|APC_uc003kpy.4_Frame_Shift_Ins_p.Q424fs|APC_uc010jbz.3_Frame_Shift_Ins_p.Q141fs|APC_uc010jca.3_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	424	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGGAGTGGCAGGAAGCTCATG	0.436		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			---	354	---	---	12	---					
FLJ35390	255031	broad.mit.edu	37	7	44081003	44081004	+	RNA	INS	-	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr7:44081003_44081004insC	uc003tjk.2	+	1		c.1696_1697insC			RASA4_uc003tji.2_5'Flank|RASA4_uc010kxx.2_5'Flank|RASA4_uc011kbk.1_5'Flank|FLJ35390_uc003tjl.4_Intron|FLJ35390_uc011kbl.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC255031 (FLJ35390), transcript variant 1, non-coding RNA.																		ACACACATTCTTTTGGGGGGGG	0.554													---	4	---	---	2	---					
PABPC1	26986	broad.mit.edu	37	8	101733701	101733702	+	Frame_Shift_Ins	INS	-	A	A	rs149111517		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733701_101733702insA	uc003yjs.1	-	0	614_615	c.110_111insT	c.(109-111)atcfs	p.I37fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.I37fs|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.I37fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	37	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGATGGAGAGGATGGGCCCGGC	0.683													---	630	---	---	7	---					
PABPC1	26986	broad.mit.edu	37	8	101733702	101733703	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733702_101733703insG	uc003yjs.1	-	0	613_614	c.109_110insC	c.(109-111)atcfs	p.I37fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.I37fs|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.I37fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	37	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GATGGAGAGGATGGGCCCGGCC	0.683													---	628	---	---	7	---					
PABPC1	26986	broad.mit.edu	37	8	101733723	101733723	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:101733723delT	uc003yjs.1	-	0	593	c.89delA	c.(88-90)aagfs	p.K30fs	PABPC1_uc011lhc.1_Frame_Shift_Del_p.K30fs|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Frame_Shift_Del_p.K30fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	30	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CGGGCTGAACTTCTCGTAGAG	0.667													---	624	---	---	8	---					
RIMS2	9699	broad.mit.edu	37	8	104513292	104513292	+	Splice_Site	DEL	T	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr8:104513292delT	uc003ylp.3	+	1	315	c.176_splice	c.e1+2	p.K59_splice		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	77	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGTGCTCAAGTAAGGACCTGG	0.652										HNSCC(12;0.0054)			---	548	---	---	8	---					
FAM22G	441457	broad.mit.edu	37	9	99701229	99701231	+	In_Frame_Del	DEL	CTT	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr9:99701229_99701231delCTT	uc022bkp.1	+	6	2045_2047	c.2024_2026delCTT	c.(2023-2028)ccttct>cct	p.S676del	FAM22G_uc004awq.2_Intron	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	676										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				AGCCCATCACCTTCTCCTGCCAG	0.611													---	391	---	---	7	---					
KRT2	3849	broad.mit.edu	37	12	53045623	53045624	+	In_Frame_Ins	INS	-	GCC	GCC	rs56850150		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr12:53045623_53045624insGCC	uc001sat.3	-	0	336_337	c.303_304insGGC	c.(301-306)insGGC	p.101_102insG		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	101	Head.		S -> G (in dbSNP:rs2634041).		keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ccacctccaaagctgctgccgc	0.614													---	108	---	---	7	---					
OR4K17	390436	broad.mit.edu	37	14	20586424	20586424	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586424delT	uc001vwo.1	+	0	859	c.859delT	c.(859-861)tttfs	p.F287fs		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCATGCATCTTTATCTACAT	0.423													---	164	---	---	86	---					
OR4K17	390436	broad.mit.edu	37	14	20586433	20586434	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr14:20586433_20586434insT	uc001vwo.1	+	0	868_869	c.868_869insT	c.(868-870)attfs	p.I290fs		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTTATCTACATTTGGCCCTTC	0.421													---	169	---	---	74	---					
LOC646278	646278	broad.mit.edu	37	15	29037099	29037100	+	RNA	INS	-	GG	GG			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:29037099_29037100insGG	uc021sgt.1	+	2		c.211_212insGG								Homo sapiens programmed cell death 6 interacting protein pseudogene (LOC646278), non-coding RNA.																		AAGCTGCAGGCGGGTGCTCTTG	0.396													---	460	---	---	10	---					
SNX1	6642	broad.mit.edu	37	15	64426911	64426912	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr15:64426911_64426912insA	uc002amv.3	+	11	1400_1401	c.1270_1271insA	c.(1270-1272)caafs	p.Q424fs	SNX1_uc010bgv.3_Frame_Shift_Ins_p.Q138fs|SNX1_uc010uio.2_Frame_Shift_Ins_p.Q424fs|SNX1_uc002amx.3_Frame_Shift_Ins_p.Q359fs|SNX1_uc010bgw.3_Frame_Shift_Ins_p.Q326fs	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	424	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGGATGCCCAAGCCACACTG	0.619													---	775	---	---	22	---					
EIF3C	8663	broad.mit.edu	37	16	28403353	28403355	+	In_Frame_Del	DEL	TCC	-	-			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:28403353_28403355delTCC	uc002dpg.4	-	7	1045_1047	c.885_887delGGA	c.(883-888)gaggac>gac	p.E295del	EIF3C_uc002dpf.4_In_Frame_Del_p.E41del|EIF3C_uc010byb.3_In_Frame_Del_p.E295del|EIF3C_uc002dph.4_In_Frame_Del_p.E295del|EIF3C_uc010vcs.2_In_Frame_Del_p.E285del|EIF3C_uc002dpi.4_In_Frame_Del_p.E295del|EIF3C_uc010byc.3_In_Frame_Del_p.E295del	NM_001099661	NP_001093131	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	294						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCCTTCATTGTCCTCCTCCTCCT	0.547													---	5	---	---	3	---					
ZNF469	84627	broad.mit.edu	37	16	88505623	88505624	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr16:88505623_88505624insC	uc002fku.2	+	1	11661_11662	c.11661_11662insC	c.(11659-11664)gaacctfs	p.E3887fs		NM_001127464	NP_001120936	Q96JG9	ZN469_HUMAN	Homo sapiens zinc finger protein 469 (ZNF469), mRNA.	3887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						ACGGTGCTGAACCTGCCGAGCC	0.634													---	133	---	---	9	---					
CCDC144B	284047	broad.mit.edu	37	17	18498496	18498497	+	Splice_Site	INS	-	A	A	rs72195768		TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr17:18498496_18498497insA	uc002gua.4	-	7		c.1886_splice	c.e7-1		CCDC144B_uc010vyc.2_Splice_Site					Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TCTGCAGGCCTGAAAAAAAAAA	0.243													---	441	---	---	8	---					
MAPK11	5600	broad.mit.edu	37	22	50703803	50703804	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8341-01A-11D-2310-10	TCGA-KL-8341-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9032df3-8692-4146-a867-b9b64c9b310a	9f1b349f-503a-4237-8da4-9100de610e1e	g.chr22:50703803_50703804insC	uc003bkr.3	-	10	1019_1020	c.961_962insG	c.(961-963)gagfs	p.E321fs	MAPK11_uc010hay.1_Non-coding_Transcript	NM_002751	NP_002742	Q15759	MK11_HUMAN	Homo sapiens mitogen-activated protein kinase 11 (MAPK11), mRNA.	321					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCATATGGCTCGGCCTCTGGC	0.653													---	207	---	---	11	---					
