Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMOD2	29767	broad.mit.edu	37	15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:52058730A>G	ENST00000249700.4	+	2	313	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R|TMOD2_ENST00000539962.2_5'UTR	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	31					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.Q31R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAACTGAAACAGTTGGAAAAT	0.418000													29	132					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:9364889G>A	ENST00000378501.2	+	11	910	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	299					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.D299N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGATGTCAGATGAAAACGC	0.408000													12	226					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:143712411G>T	ENST00000264170.4	+	5	664	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_ENST00000409512.1_Missense_Mutation_p.A136S|KYNU_ENST00000375773.2_Missense_Mutation_p.A136S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	136					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.A136S(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCTAATGAATGCTTTGACTGT	0.284000													4	144					1	1	1	1	0
PRSS48	345062	broad.mit.edu	37	4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:152212529G>A	ENST00000455694.2	+	5	913	c.911G>A	c.(910-912)gGc>gAc	p.G304D	PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	304					proteolysis	extracellular region	serine-type endopeptidase activity	p.G304D(1)|p.G313D(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CACAGAGTAGGCACTGTAGCT	0.502000													5	141					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742648	102742648	+	RNA	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:102742648C>A	ENST00000532855.1	-	0	481							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D129Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TAGTCAACATCCTCACGGTTC	0.393000													10	44					1.58986e-06	1.67722e-06	1	1	0
SDHAP1	0	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													5	136					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131498747	131498747	+	Silent	SNP	C	C	T	rs144882598	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:131498747C>T	ENST00000261654.5	+	13	1894	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	GPR133_ENST00000535015.1_Silent_p.I477I|GPR133_ENST00000376682.4_Silent_p.I131I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577000													19	106					0	0	1	0	0
GNB1L	0	broad.mit.edu	37	22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:19808139T>G	ENST00000329517.6	-	4	472	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	79					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.Q79P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657000													5	68					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348254	150348254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:150348254G>A	ENST00000218316.3	+	2	268	c.199G>A	c.(199-201)Gtg>Atg	p.V67M		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	67					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.V67M(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACATCTTCGTGGTCAGTCT	0.483000													16	437					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:23862693T>C	ENST00000405093.3	-	23	3033	c.2963A>G	c.(2962-2964)gAt>gGt	p.D988G	MYH6_ENST00000356287.3_Missense_Mutation_p.D988G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	988					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.D988G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATTTCATCCAGCCCAGC	0.527000													61	253					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195519	3195519	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:3195519C>T	ENST00000323404.1	-	1	357	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	120				A -> D (in Ref. 6; AAA18347).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A120T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TAGGCCATGGCGGTCAGCAGG	0.612000													9	120					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423244	26423244	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:26423244G>A	ENST00000335473.7	+	43	7554	c.7304G>A	c.(7303-7305)cGc>cAc	p.R2435H	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2436H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2435H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2435						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.R2436H(1)|p.R2435H(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACTACGAACGCAAGACCAAA	0.562000													4	146					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	97					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352939	58352939	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr19:58352939G>A	ENST00000442832.4	+	3	1131	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Silent_p.G299G	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	299					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G299G(1)									AACCTTATGGGTGTGAAGAAT	0.403000													5	8					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108347996	108347996	+	Silent	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:108347996A>G	ENST00000361582.3	+	8	899	c.669A>G	c.(667-669)gaA>gaG	p.E223E	DZIP3_ENST00000463306.1_Silent_p.E223E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	223					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.E223E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCCTACAGAAGATGAAGATT	0.289000													15	168					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151738393	151738393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:151738393C>T	ENST00000535741.1	-	31	5661	c.5188G>A	c.(5188-5190)Gca>Aca	p.A1730T	LRBA_ENST00000357115.3_Missense_Mutation_p.A1730T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1730T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1730T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1730						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.A1730T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GACTTTTTTGCTGCAACAATG	0.363000													16	108					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35674081	35674081	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:35674081G>A	ENST00000378357.4	+	1	229	c.125G>A	c.(124-126)cGg>cAg	p.R42Q		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	42	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.R42Q(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTGCCCCGGATGCAGGAG	0.622000													15	81					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294583	28294583	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294583A>T	ENST00000414429.1	-	8	1484	c.581T>A	c.(580-582)aTc>aAc	p.I194N	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N					zinc finger and SCAN domain containing 31									p.I194N(1)									TTCTTTTAAGATTTCTTGCTT	0.363000													16	172					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:89906575A>G	ENST00000389297.4	+	11	1333	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C|C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	361							binding	p.Y361C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCTAATTCCTATGAAGATTTT	0.299000													5	90					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	27					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:52897365T>G	ENST00000356971.3	-	5	733	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	ICK_ENST00000350082.5_Missense_Mutation_p.M82L	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	82	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.M82L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTCCTTCATGTACTCGAAG	0.323000													16	68					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61144866	61144866	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:61144866C>T	ENST00000317995.4	-	4	754	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	164					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.A164T(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GCAATGATGGCGATTCCGTGC	0.433000													6	146					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883495	74883495	+	Missense_Mutation	SNP	G	G	A	rs150167315		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:74883495G>A	ENST00000289575.5	+	7	1248	c.853G>A	c.(853-855)Ggt>Agt	p.G285S	SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G58S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G169S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G30S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G141S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G263S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G58S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	285					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.G285S(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CATCGCTGCCGGTGCAGTGGC	0.562000													4	118					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:105622204C>T	ENST00000331782.3	-	4	1001	c.598G>A	c.(598-600)Gag>Aag	p.E200K	JAG2_ENST00000347004.2_Missense_Mutation_p.E200K|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	200	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.E200K(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TAGTAGTTCTCGTCGCAGCGC	0.627000													6	23					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988802	45988802	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:45988802G>A	ENST00000458629.1	+	1	2292	c.829G>A	c.(829-831)Gca>Aca	p.A277T	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.A277T|CXCR6_ENST00000438735.1_Missense_Mutation_p.A277T|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.A277T|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	277					viral genome replication	integral to plasma membrane	coreceptor activity	p.A277T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGAGGCCATCGCATACCTGAG	0.507000													15	122					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:121652283G>A	ENST00000393386.2	+	12	3594	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348000													32	195					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14748515	14748515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:14748515C>T	ENST00000218075.4	+	9	1797	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	GLRA2_ENST00000355020.4_Nonsense_Mutation_p.R423*|GLRA2_ENST00000443437.2_Nonsense_Mutation_p.R334*	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	423					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R423*(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CACGATATCTCGAGCTGCCTT	0.473000													50	71					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081448	194081448	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:194081448C>T	ENST00000347624.3	-	2	410	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	LRRC15_ENST00000439944.2_Missense_Mutation_p.A115T|LRRC15_ENST00000428839.1_Missense_Mutation_p.A115T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	109						integral to membrane		p.A109T(3)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGTTGTTGGCGAGGCTGAGA	0.597000													30	105					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:103986922C>A	ENST00000348956.2	-	6	1018	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	221	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.D221Y(1)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCTTATTGTCATTGTGCCTG	0.597000													3	33					1	1	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64159482	64159482	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:64159482C>T	ENST00000395254.3	+	5	1438	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.G386G(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGGTTTGGCCGCAAAGGCA	0.537000													4	121					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:56185673G>T	ENST00000312253.1	-	1	35	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F12L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTTCAGAATGAATACAGTGA	0.398000													6	235					2.0095e-06	2.09687e-06	1	1	0
TEX13B	0	broad.mit.edu	37	X	107225170	107225170	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:107225170A>G	ENST00000302917.1	-	2	280	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	63								p.V63A(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597000													16	171					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219353102	219353102	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:219353102G>T	ENST00000258399.3	-	15	1927	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000454775.1_Silent_p.L505L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	505					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L505L(2)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGTCAATAGAGAGGTCATTAA	0.338000													22	151					4.4004e-07	4.69376e-07	1	1	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652000													7	59					0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:20714532T>A	ENST00000360916.5	+	6	879	c.488T>A	c.(487-489)cTa>cAa	p.L163Q	PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	163							binding	p.L163Q(1)		endometrium(2)|lung(7)|prostate(1)	10						ATTCCTGTGCTAAAGGCAGCT	0.333000													57	362					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866139	100866139	+	Missense_Mutation	SNP	G	G	A	rs142957181		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:100866139G>A	ENST00000358544.2	+	56	10708	c.10597G>A	c.(10597-10599)Gtg>Atg	p.V3533M	VPS13B_ENST00000357162.2_Missense_Mutation_p.V3508M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3533					protein transport			p.V3533M(1)|p.V3508M(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCGGTTATACGTGGAAGACAC	0.408000													6	319					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173068	173068	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:173068C>T	ENST00000283426.6	+	15	3089	c.3039C>T	c.(3037-3039)tgC>tgT	p.C1013C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1013	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.C204C(1)|p.C1013C(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGTTTGCTGCGGGAGGAAGA	0.512000													24	148					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867346	107867346	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:107867346C>T	ENST00000370067.1	+	3	1316	c.689C>T	c.(688-690)gCg>gTg	p.A230V	NTNG1_ENST00000370070.2_Missense_Mutation_p.A230V|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370066.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370073.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370068.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370072.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370074.4_Missense_Mutation_p.A230V|NTNG1_ENST00000542803.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370061.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370065.1_Missense_Mutation_p.A230V			Q9Y2I2	NTNG1_HUMAN	netrin G1	230	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A230V(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GACAGGTTCGCGTTTTTTGCT	0.428000													12	89					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:127525312C>A	ENST00000284690.3	-	11	2666	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	726						mitochondrion|nucleus	ATP binding|helicase activity	p.E726*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGCTGTTCCTTATTCATT	0.473000													11	90					4.68919e-08	5.17428e-08	1	1	0
HINFP	25988	broad.mit.edu	37	11	119002676	119002676	+	Silent	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:119002676C>G	ENST00000350777.2	+	5	723	c.660C>G	c.(658-660)cgC>cgG	p.R220R	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.R220R	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	220					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R220R(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACATCCGTCGCCAGACCTCAT	0.557000													21	120					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989612	47989612	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:47989612C>T	ENST00000371741.4	-	2	2651	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	829					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E829K(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCACTTTTCCTGACCACTG	0.522000													7	162					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575015	33575015	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:33575015G>A	ENST00000262873.7	+	14	1290	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	358	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.A400T(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GATCGTGGGCGCCCTCCTGCA	0.587000													14	166					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163122355	163122355	+	Silent	SNP	C	C	T	rs150796534		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:163122355C>T	ENST00000313961.5	-	4	646	c.369G>A	c.(367-369)acG>acA	p.T123T	RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000367903.3_Silent_p.T143T|RGS5_ENST00000530507.1_Silent_p.T123T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	123	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.T123T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TAGGAGCCTCCGTTTGAATGA	0.473000													126	555					0	0	1	0	0
PCDHA13	0	broad.mit.edu	37	5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:140262046C>T	ENST00000289272.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R65W(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617000													9	265					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367247	248367247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:248367247G>A	ENST00000456743.1	+	1	916	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293H(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.473000													19	156					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863081	56863081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56863081T>C	ENST00000338146.5	+	2	419	c.344T>C	c.(343-345)aTt>aCt	p.I115T		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	115	B30.2/SPRY.					nucleus		p.I115T(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GATAGCTGCATTGGTGTTGAT	0.567000													52	256					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132203595	132203595	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:132203595C>T	ENST00000360971.2	+	21	2231	c.2211C>T	c.(2209-2211)taC>taT	p.Y737Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	737	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Y685Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTGAGTTACGGGTTCCTCT	0.383000													32	179					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833623	38833623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:38833623G>A	ENST00000449082.2	-	2	306	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	103					sensory perception	voltage-gated sodium channel complex		p.R103W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCACTAAACCGGGAAATGGTC	0.448000													5	291					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:3063524G>C	ENST00000445369.2	+	1	1068	c.161G>C	c.(160-162)tGc>tCc	p.C54S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	54					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.C54S(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGATGTCCTGCGTGGTGCAG	0.657000													24	130					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:112418689G>C	ENST00000302475.4	-	9	1645	c.1082C>G	c.(1081-1083)gCt>gGt	p.A361G	MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.A298G	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	361					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.A361G(1)|p.A551G(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGTGTTCAGCCACACTGCT	0.418000													26	102					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	180					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117661174	117661174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:117661174C>A	ENST00000256649.4	-	2	1230	c.704G>T	c.(703-705)gGg>gTg	p.G235V	TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	235						cytoplasm|nucleus	zinc ion binding	p.G235V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACAGAGTCCCCATGCTTGTG	0.577000													4	148					0.150653	0.153859	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1980396	1980396	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:1980396C>T	ENST00000382895.3	+	24	4289	c.3858C>T	c.(3856-3858)gaC>gaT	p.D1286D	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.D634D|WHSC1_ENST00000382892.2_Silent_p.D1286D|WHSC1_ENST00000382891.5_Silent_p.D1286D|WHSC1_ENST00000508803.1_Silent_p.D1286D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1286					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.D1286D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATCATTGTGACGTGTGTGGCA	0.522000			T	IGH@	MM								25	100					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40698128	40698128	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:40698128C>T	ENST00000249760.2	+	1	443	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.P37S|IVD_ENST00000487418.2_Missense_Mutation_p.P37S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	34					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	p.P34S(1)|p.P37S(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTCGCTTTTGCCCGTGGACGA	0.672000													3	42					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41800403	41800403	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:41800403A>C	ENST00000396930.3	-	15	2887	c.2344T>G	c.(2344-2346)Tcc>Gcc	p.S782A	KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S782A(2)									ACAGAGTTGGACACTATGACT	0.488000													14	213					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:48318519A>T	ENST00000435803.1	+	18	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313000													7	200					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13464	13464	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrM:13464C>T	ENST00000361567.2	+	1	1128	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	376					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTCACCATTGGCAGCCTAGCA	0.448000													5	75					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:1643252A>G	ENST00000399682.1	-	1	116	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	24						keratin filament		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687000													9	49					0	0	1	0	0
C14orf178	283579	broad.mit.edu	37	14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:78227450A>G	ENST00000355883.3	+	1	274	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|SNW1_ENST00000555761.1_Intron|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|SNW1_ENST00000554775.1_Intron	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	22								p.Q22R(1)|p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCAATCAACAACCCACCTGG	0.587000													19	98					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55521763	55521763	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:55521763C>T	ENST00000302118.5	+	6	1187	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	299	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.A299A(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCTCAACGCCGCCTGCCAGC	0.692000													3	11					0	0	1	0	0
MT-ATP6	4508	broad.mit.edu	37	MT	8802	8802	+	Silent	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrM:8802T>C	ENST00000361899.2	+	1	276	c.276T>C	c.(274-276)ttT>ttC	p.F92F						mitochondrially encoded ATP synthase 6											breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CCTCACTCATTTACACCAACC	0.438000													5	62					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294582	28294582	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294582G>T	ENST00000414429.1	-	8	1485	c.582C>A	c.(580-582)atC>atA	p.I194I	ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I|ZSCAN31_ENST00000446474.1_Silent_p.I35I					zinc finger and SCAN domain containing 31									p.I194I(1)									TTTCTTTTAAGATTTCTTGCT	0.363000													16	173					1.15088e-07	1.2555e-07	1	1	0
IL4R	3566	broad.mit.edu	37	16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:27373986G>T	ENST00000395762.2	+	11	1572	c.1313G>T	c.(1312-1314)aGt>aTt	p.S438I	IL4R_ENST00000543915.2_Missense_Mutation_p.S438I|IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	438	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S438I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTTCGGGAAGTACGAGTGCT	0.612000													35	141					9.04072e-19	1.0092e-18	1	1	0
PRPH2	5961	broad.mit.edu	37	6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:42689807G>T	ENST00000230381.5	-	1	505	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	89					cell adhesion|visual perception	integral to membrane		p.A89D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCATACTTGGCTGGGTCCAG	0.537000													17	106					1.99824e-07	2.1554e-07	1	1	0
HRASLS5	117245	broad.mit.edu	37	11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:63235886A>T	ENST00000540857.1	-	4	529	c.397T>A	c.(397-399)Tat>Aat	p.Y133N	HRASLS5_ENST00000301790.4_Missense_Mutation_p.Y143N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	143								p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGTGCTCATAGCCAATTCGA	0.418000													7	180					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:71841089A>G	ENST00000377245.4	+	7	1416	c.1208A>G	c.(1207-1209)gAa>gGa	p.E403G	TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	403					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.E403G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAGAAATAGAAGGTAAAGGA	0.433000													11	53					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753607	76753607	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr18:76753607G>C	ENST00000536229.3	+	1	1926	c.1217G>C	c.(1216-1218)gGc>gCc	p.G406A	SALL3_ENST00000575389.2_Missense_Mutation_p.G539A|SALL3_ENST00000537592.2_Missense_Mutation_p.G539A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G539A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCGCGCACGGCTACGCCGAC	0.731000													6	10					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22265850	22265850	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:22265850G>A	ENST00000359741.5	+	3	473	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	100						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	p.A100T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTTCACTGCCCACAATTT	0.587000													5	146					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030939	56030939	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56030939G>A	ENST00000309675.2	+	1	296	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	88			P -> L (in dbSNP:rs10876838).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P88P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGGCTCCCCGCATCCCCAGG	0.602000													29	148					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024107	76024107	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:76024107C>G	ENST00000393004.2	-	5	1662	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.E382Q|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E481Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	481								p.E481Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCAGAACATTCCAATTCTTTA	0.373000													4	262					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	77					0.00909568	0.00938909	1	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:45523339A>G	ENST00000291574.4	+	23	3882	c.3707A>G	c.(3706-3708)aAc>aGc	p.N1236S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1236					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.N1236S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGTCTTCAACTCCAGCTCG	0.622000													7	39					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:129642273C>T	ENST00000319119.4	+	2	680	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195*	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q199*(1)|p.Q195*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCGCTTACAGGAGGAGGG	0.582000													16	83					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													4	100					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:17295800C>G	ENST00000375541.5	+	32	5335	c.5266C>G	c.(5266-5268)Ctg>Gtg	p.L1756V		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1756					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.L1756V(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAGGCTCTGACCGCCTG	0.652000													7	12					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618298	175618298	+	Silent	SNP	G	G	A	rs137852798		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:175618298G>A	ENST00000348749.5	-	6	788	c.711C>T	c.(709-711)aaC>aaT	p.N237N	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Silent_p.N262N|CHRNA1_ENST00000409542.1_Silent_p.N155N|CHRNA1_ENST00000409323.1_Silent_p.N237N|CHRNA1_ENST00000409219.1_Silent_p.N237N	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	262					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.N262N(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGATGATGACGTTGACGATGA	0.577000													7	203					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457746	110457746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:110457746G>A	ENST00000378402.5	+	38	5752	c.5648G>A	c.(5647-5649)cGc>cAc	p.R1883H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1883	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R1883H(1)|p.R1885H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACTGCCGCACTCCCGCT	0.438000										HNSCC(38;0.096)			11	45					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:53081026C>A	ENST00000305901.5	-	1	1183	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.K352N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCTGCAGCCACTTCCACATCC	0.657000													20	62					1.37878e-21	1.55721e-21	1	1	0
AF146191.4	0	broad.mit.edu	37	4	190818970	190818974	+	RNA	DEL	AGGAA	AGGAA	-			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:190818970_190818974delAGGAA	ENST00000511785.1	-	0	231																											agggagagcgaggaaaggaaaggaa	0.483													3	3	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138377	20138377	+	RNA	DEL	A	A	-			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:20138377delA	ENST00000548261.1	+	0	391																											CAaaagaaagaaagaaagaaa	0.383													6	4	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													3	3	---	---	---	---