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
KIAA1274	27143	broad.mit.edu	37	10	72293731	72293731	+	Silent	SNP	C	G	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr10:72293731C>G	uc001jrd.4	+	7	1205	c.924C>G	c.(922-924)ctC>ctG	p.L308L		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	308										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCCAGCCCTCGTCTTCAGCT	0.657000														54			42		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166380	19166380	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:19166380A>G	uc001bba.1	-	5	2234	c.2233T>C	c.(2233-2235)Ttc>Ctc	p.F745L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	745					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATGTAGGCGAAGCTGAAACCC	0.542000														154			6		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18900771	18900771	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr22:18900771C>T	uc002zok.4	-	14	1924	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	PRODH_uc002zoj.4_Missense_Mutation_p.G464S|PRODH_uc002zol.4_Missense_Mutation_p.G466S	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	574					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CGATGGGTGCCCTTCATGAGG	0.662000														24			4		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53077156	53077156	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:53077156A>G	uc002iuf.1	+	5	658	c.451A>G	c.(451-453)Acc>Gcc	p.T151A	STXBP4_uc010dcc.1_Missense_Mutation_p.T76A|STXBP4_uc010dcd.1_Missense_Mutation_p.T151A	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	151						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCCCAAAGACCTCATCCAC	0.353000														239			8		0	0	1	0	0
C2orf56	55471	broad.mit.edu	37	2	37473258	37473258	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr2:37473258T>C	uc002rqa.4	+	7	931	c.856T>C	c.(856-858)Tct>Cct	p.S286P	C2orf56_uc010ynj.1_Non-coding_Transcript|C2orf56_uc002rqc.4_Missense_Mutation_p.S188P|C2orf56_uc010ynk.2_Missense_Mutation_p.S215P|C2orf56_uc010ynl.2_Missense_Mutation_p.S259P|C2orf56_uc010fah.3_Non-coding_Transcript	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	Homo sapiens chromosome 2 open reading frame 56 (C2orf56), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13		all_hematologic(82;0.21)				CGAGGAACTTTCTCAACGCAT	0.413000														98			4		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107869	14107869	+	Silent	SNP	T	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:14107869T>C	uc001avi.3	+	7	4435	c.3579T>C	c.(3577-3579)tgT>tgC	p.C1193C	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.C1193C|PRDM2_uc001avk.3_Silent_p.C992C|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1193						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCTTTGTGTGTTCTGTTTGTA	0.413000														108			5		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233685	84233685	+	Silent	SNP	G	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr6:84233685G>A	uc003pjz.3	+	1	765	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PRSS35_uc010kbm.3_Silent_p.K175K|PRSS35_uc021zce.1_Silent_p.K175K	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.K175N(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGATGGAAAGGACTATGTCA	0.478000														67			4		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186903	7186903	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr17:7186903T>C	uc002gfp.3	+	2	462	c.262T>C	c.(262-264)Ttt>Ctt	p.F88L	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.F78L	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	88					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGGCCATCTTTTCCGTGGG	0.622000														74			4		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32741193	32741193	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:32741193G>A	uc001bux.3	+	5	539	c.401G>A	c.(400-402)cGc>cAc	p.R134H	LCK_uc001buy.3_Missense_Mutation_p.R134H|LCK_uc001buz.3_Missense_Mutation_p.R134H|LCK_uc010ohc.1_Missense_Mutation_p.R178H|LCK_uc001bva.3_Missense_Mutation_p.R192H	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	134	SH2.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AACCTGAGCCGCAAGGACGCG	0.682000			T	TRB@	T-ALL									40			3		0	0	1	0	0
SRRM5	100170229	broad.mit.edu	37	19	44117020	44117020	+	Silent	SNP	C	T	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr19:44117020C>T	uc002oxb.2	+	2	1100	c.747C>T	c.(745-747)atC>atT	p.I249I	ZNF428_uc002oxa.3_Intron|SRRM5_uc010xwr.2_Silent_p.I249I	NM_001145641	NP_001139113	B3KS81	SRRM5_HUMAN	Homo sapiens serine/arginine repetitive matrix 5 (SRRM5), mRNA.	249	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						GTCAGATGATCATCCCCAGTA	0.537000														59			3		0	0	1	0	0
CBR1	873	broad.mit.edu	37	21	37443310	37443310	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr21:37443310A>G	uc002yvb.1	+	1	481	c.352A>G	c.(352-354)Acc>Gcc	p.T118A	LOC100133286_uc011aea.1_Intron|SETD4_uc002yva.3_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.T118A|CBR1_uc010gmy.1_Missense_Mutation_p.T118A	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	118					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	TTTCTTTGGTACCCGAGATGT	0.433000														86			3		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505843	195505843	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr3:195505843G>C	uc021xjp.1	-	1	12764	c.12608C>G	c.(12607-12609)aCa>aGa	p.T4203R	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCGTGACCTGTGGATGCTGA	0.592000														24			4		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22930911	22930911	+	Splice_Site	SNP	C	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr18:22930911C>A	uc002kvk.2	-	2	247	c.0_splice	c.e2-1		ZNF521_uc010xbe.1_Splice_Site|ZNF521_uc010dly.2_5'UTR|ZNF521_uc002kvl.2_Intron	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCGAGACATCCTAAAAGCAA	0.607000			T	PAX5	ALL									30			5		0.00198382	0.00198382	1	1	0
OTOA	146183	broad.mit.edu	37	16	21698797	21698797	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:21698797G>A	uc002djh.3	+	6	464	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V76M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	155					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGCCCTGGCGTGAACCGCAG	0.542000														29			3		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073370	31073370	+	Silent	SNP	C	G	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr16:31073370C>G	uc021tgt.1	-	3	1304	c.948G>C	c.(946-948)tcG>tcC	p.S316S	ZNF668_uc010cag.2_Silent_p.S293S|ZNF668_uc010caf.3_Silent_p.S293S|ZNF668_uc002eao.3_Silent_p.S293S	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GACGGAAGCTCGAGGGGTCGG	0.677000														28			19		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150659389	150659389	+	Missense_Mutation	SNP	T	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr3:150659389T>A	uc021xfs.1	-	1	704	c.413A>T	c.(412-414)tAc>tTc	p.Y138F	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Non-coding_Transcript|CLRN1_uc021xfr.1_5'UTR|CLRN1_uc003eyj.3_Missense_Mutation_p.Y62F|CLRN1_uc003eyk.1_Missense_Mutation_p.Y138F|CLRN1_uc021xft.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	138					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCTCAAAAGGTACAGCCCTAG	0.388000														126			7		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160485473	160485473	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr6:160485473A>T	uc003qta.3	+	27	4075	c.3927A>T	c.(3925-3927)ttA>ttT	p.L1309F		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1309					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGGCTTGTTAAAAATGAACT	0.483000														42			4		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539779	120539780	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr1:120539779_120539780insG	uc001eik.3	-	3	888_889	c.591_592insC	c.(589-594)acctgcfs	p.T197fs	NOTCH2_uc001eil.3_Frame_Shift_Ins_p.T197fs|NOTCH2_uc021osy.1_Frame_Shift_Ins_p.T158fs|NOTCH2_uc001eim.4_Frame_Shift_Ins_p.T114fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	197	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTGAGGCAGGTGCCACCAT	0.559			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	252	---	---	9	---					
CCDC74A	90557	broad.mit.edu	37	2	132290264	132290265	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr2:132290264_132290265insC	uc002tta.3	+	4	838_839	c.786_787insC	c.(784-789)ctgcccfs	p.L262fs	CCDC74A_uc002ttb.3_Frame_Shift_Ins_p.L196fs|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	262										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAATGATCCTGCCCCTTCCCCT	0.624													---	369	---	---	8	---					
SPDYE6	729597	broad.mit.edu	37	7	101988975	101988976	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr7:101988975_101988976delTG	uc011kkp.2	-	5	1318_1319	c.897_898delCA	c.(895-900)gccaggfs	p.A299fs	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	299	Arg-rich.																CGGTTCTTCCTGGCCCTCGGGT	0.545													---	915	---	---	9	---					
CBWD6	644019	broad.mit.edu	37	9	69256826	69256827	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr9:69256826_69256827insC	uc004afj.4	-	2	410_411	c.304_305insG	c.(304-306)gaafs	p.E102fs	CBWD6_uc004afk.4_Non-coding_Transcript|CBWD6_uc011lrf.2_Non-coding_Transcript|CBWD6_uc004afl.3_Frame_Shift_Ins_p.E102fs	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN	Homo sapiens COBW domain containing 6 (CBWD6), mRNA.	102							ATP binding			lung(4)	4						GTTTCTAAGTTCCAGCCACTCT	0.376													---	767	---	---	24	---					
SHANK2	22941	broad.mit.edu	37	11	70824380	70824381	+	In_Frame_Ins	INS	-	TTT	TTT			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:70824380_70824381insTTT	uc001oqc.3	-	3	553_554	c.441_442insAAA	c.(439-444)insAAA	p.147_148insK		NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	0	SH3.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGAGACTGGCTTGTTTATACA	0.465													---	146	---	---	14	---					
ROBO3	64221	broad.mit.edu	37	11	124739923	124739924	+	Frame_Shift_Ins	INS	-	G	G	rs115272137	by1000genomes	TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr11:124739923_124739924insG	uc001qbc.3	+	3	894_895	c.725_726insG	c.(724-726)gcgfs	p.A242fs		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	242	Ig-like C2-type 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCAACATGGCGGGAGAACGGG	0.525													---	117	---	---	8	---					
DPPA3	359787	broad.mit.edu	37	12	7869647	7869648	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr12:7869647_7869648insA	uc001qtf.3	+	3	532_533	c.454_455insA	c.(454-456)caafs	p.Q152fs		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	152						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AATAGGGAATCAAGACACCAAG	0.376													---	322	---	---	7	---					
RPAP3	79657	broad.mit.edu	37	12	48095315	48095315	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr12:48095315delT	uc001rpr.3	-	2	342	c.226delA	c.(226-228)accfs	p.T76fs	RPAP3_uc010slk.2_5'UTR|RPAP3_uc001rps.3_Frame_Shift_Del_p.T76fs	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	76							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCCTCTCTGGTTTTTTTGGAA	0.323													---	238	---	---	9	---					
TLE3	7090	broad.mit.edu	37	15	70386891	70386892	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chr15:70386891_70386892insA	uc002asl.2	-	2	532_533	c.231_232insT	c.(229-234)ttgaacfs	p.L77fs	TLE3_uc002ask.2_Frame_Shift_Ins_p.L5fs|TLE3_uc010ukd.1_Frame_Shift_Ins_p.L64fs|TLE3_uc010bil.1_Frame_Shift_Ins_p.L71fs|TLE3_uc002asn.2_Frame_Shift_Ins_p.L71fs|TLE3_uc002asm.2_Frame_Shift_Ins_p.L71fs|TLE3_uc002asp.2_Frame_Shift_Ins_p.L71fs|TLE3_uc002aso.2_Frame_Shift_Ins_p.L71fs	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	71	Gln-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTTCAATGTTCAAGCCATAGG	0.287													---	201	---	---	7	---					
ATRX	546	broad.mit.edu	37	X	76763910	76763911	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:76763910_76763911insC	uc004ecp.4	-	34	7629_7630	c.7397_7398insG	c.(7396-7398)ggtfs	p.G2466fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.G2428fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.G2251fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2466					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTGGCTGCATACCACCAGCCAC	0.465			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	216	---	---	7	---					
RAB40A	142684	broad.mit.edu	37	X	102755467	102755468	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8437-01A-11D-2310-10	TCGA-KN-8437-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	345a06d6-fa5c-4674-a847-88a6b537cf3c	a1283c7d-6305-46d3-b518-47cb8b37ba18	g.chrX:102755467_102755468insC	uc022cbs.1	-	0	217_218	c.217_218insG	c.(217-219)cagfs	p.Q73fs	RAB40A_uc004ekk.3_Frame_Shift_Ins_p.Q73fs	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.	73					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAATCTTCCCTGCCCCGACGTA	0.564													---	272	---	---	7	---					
