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
AHNAK	79026	broad.mit.edu	37	11	62287084	62287084	+	Silent	SNP	C	C	T	rs149805243		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458000													6	156					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113171073	113171073	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:113171073C>T	ENST00000401783.2	-	38	7143	c.6807G>A	c.(6805-6807)ccG>ccA	p.P2269P	SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2269	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P2272P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGGATCGGGGGAGGTT	0.478000													65	86					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470774	76470774	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:76470774G>A	ENST00000396423.2	+	7	849	c.725G>A	c.(724-726)cGc>cAc	p.R242H	HNF4G_ENST00000354370.1_Missense_Mutation_p.R205H	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	205					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTATTCACCGCAACAGCTGT	0.378000													4	208					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7663154	7663154	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr17:7663154G>A	ENST00000572933.1	+	17	4143	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	895	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGTCAATGACATTGGCAA	0.507000													5	218					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622000													4	118					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255062	15255062	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:15255062G>A	ENST00000378116.4	-	8	2531	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	842						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCCGAGGGGGCATCCGCAGT	0.617000													4	158					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	51					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62401811	62401811	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62401811T>C	ENST00000346178.4	-	6	612	c.597A>G	c.(595-597)atA>atG	p.I199M	GANAB_ENST00000356638.3_Intron|GANAB_ENST00000534779.1_Missense_Mutation_p.I85M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_Intron	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	187					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCTTATCCCATATGCTACCAA	0.478000													36	89					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997179	173997179	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:173997179A>G	ENST00000457714.1	+	6	1817	c.1388A>G	c.(1387-1389)cAt>cGt	p.H463R	NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R|NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	480					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTACGGACCATCAGTGGGTG	0.448000													16	71					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865135	118865135	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:118865135C>T	ENST00000295622.1	+	1	139	c.99C>T	c.(97-99)gaC>gaT	p.D33D		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	33										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAGAAGACGACCAGAAGA	0.552000													8	12					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21938322	21938322	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:21938322G>A	ENST00000358242.3	+	14	1457	c.964G>A	c.(964-966)Gag>Aag	p.E322K	DMTN_ENST00000523266.1_Missense_Mutation_p.E322K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.E282K|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.E322K|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000265800.5_Missense_Mutation_p.E322K					dematin actin binding protein																		CCAGAACGGAGAGGGCCAGAG	0.662000													10	8					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99097198	99097198	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr12:99097198A>G	ENST00000550527.1	+	17	2490	c.2483A>G	c.(2482-2484)cAt>cGt	p.H828R	APAF1_ENST00000357310.1_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.H839R|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Intron			O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	839					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACACGGGCCATCACAGCACC	0.408000													25	26					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400788	11400788	+	Missense_Mutation	SNP	C	C	T	rs139800432		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:11400788C>T	ENST00000227756.4	-	4	1030	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		TCCACATATTCGGTCAGCTTC	0.552000													5	78					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35676353	35676353	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:35676353G>A	ENST00000378357.4	+	5	911	c.807G>A	c.(805-807)ccG>ccA	p.P269P	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	269	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			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)			TGGGGCGCCCGGGAGGCCTGG	0.637000													9	210					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	20					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58948511	58948511	+	Silent	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58948511T>C	ENST00000254166.3	-	2	535	c.135A>G	c.(133-135)gtA>gtG	p.V45V		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	45	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGGAGAAGTATACAGCCACAT	0.488000													3	33					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19770581	19770581	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr21:19770581T>A	ENST00000284885.3	-	2	244	c.211A>T	c.(211-213)Aat>Tat	p.N71Y		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	71	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.N71Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATTAGGATTATATGTAACT	0.358000													58	27					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378000													4	161					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41105573	41105573	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:41105573C>T	ENST00000355341.4	+	8	1569	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ZFYVE19_ENST00000564258.1_Silent_p.D181D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D|ZFYVE19_ENST00000299173.10_Silent_p.D288D	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	356							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGATGACGACGAGGATG	0.587000													6	9					0	0	1	0	0
AJ271736.10	0	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chrX:155255043G>A	ENST00000285718.7	+	0	1348				WASH6P_ENST00000461007.1_RNA																							ATCCTAGGGGGCTCCATGACA	0.642000													5	20					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230453157	230453157	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:230453157C>T	ENST00000341772.4	-	3	767	c.633G>A	c.(631-633)gcG>gcA	p.A211A		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	211					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCGGCCACCCGCAGAGCTGT	0.428000													16	28					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69669183	69669183	+	Silent	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:69669183A>G	ENST00000212015.6	+	7	1394	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P	SIRT1_ENST00000406900.1_Silent_p.P144P|SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000432464.1_Silent_p.P152P	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	447	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAGTAAGACCAGTAGCACTAA	0.368000													20	29					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68192802	68192802	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:68192802G>A	ENST00000551171.1	+	6	702	c.378G>A	c.(376-378)gcG>gcA	p.A126A	RDH12_ENST00000267502.3_Silent_p.A126A|RDH12_ENST00000539142.1_Silent_p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	126			A -> V (in RP53).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TCAACAATGCGGGAGTAATGA	0.463000													5	167					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	by1000genomes	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453000													109	103					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	rs142651314	byFrequency	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348000													3	50					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693866	141693866	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr5:141693866G>A	ENST00000344120.4	-	3	1063	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	SPRY4_ENST00000434127.2_Missense_Mutation_p.R270C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	270					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAGGGCGGCGCAGACGG	0.642000									Testicular Cancer, Familial Clustering of				6	42					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	155					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								24	35					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810101	47810101	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:47810101G>A	ENST00000285106.6	-	11	2212	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	500					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCATGTGGCGCAAGGCAACA	0.577000													28	37					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975888	7975888	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:7975888G>A	ENST00000545011.1	+	7	890	c.825G>A	c.(823-825)ctG>ctA	p.L275L	MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L|MAP2K7_ENST00000397979.3_Silent_p.L233L			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	233	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGTACTACCTGAAGGAGAAGC	0.652000													12	35					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95940490	95940490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:95940490C>T	ENST00000317620.9	+	1	290	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	53						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGGCCCCTCGAGTTCGTGC	0.657000													6	150					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAACGTGGCGCCTGCCTGC	0.637000													5	111					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81964495	81964495	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr7:81964495T>C	ENST00000356860.3	-	3	588	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R84G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	84						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAATATCCCTGGCTGCAATT	0.333000													6	352					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262359	61262359	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:61262359A>G	ENST00000344731.5	+	7	814	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	238					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GATTCCATATAAAAACAACGA	0.433000													22	84					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184853821	184853821	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:184853821C>G	ENST00000367511.3	-	5	740	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	183					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCTTCTGGTCAGCAGCCTCG	0.597000													17	30					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41223196	41223196	+	Silent	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr22:41223196T>C	ENST00000216218.3	-	11	1366	c.885A>G	c.(883-885)ggA>ggG	p.G295G		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	295	Gly/Met/Pro-rich.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGGCATTCCTCCGGGAAAAT	0.458000													24	39					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55467292	55467292	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:55467292T>C	ENST00000360586.3	-	10	936	c.871A>G	c.(871-873)Act>Gct	p.T291A	WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A|WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	291						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCCGCATCAGTATACGATATT	0.393000													3	70					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	220					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885372	39885372	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:39885372G>A	ENST00000260356.5	+	18	3104	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	980	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGGGTTGTACGCCATCAGGGT	0.493000													23	33					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	13					0.004672	0.004672	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043676	56043676	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:56043676C>T	ENST00000313033.2	+	1	648	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H188D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAAATTAGGCATGTCTTTTG	0.408000													46	198					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915518	136915518	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:136915518G>C	ENST00000303407.7	-	5	877	c.692C>G	c.(691-693)cCt>cGt	p.P231R	BRD3_ENST00000357885.2_Missense_Mutation_p.P231R|BRD3_ENST00000371834.2_Missense_Mutation_p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	231						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGGCGTAGGAGGGACCACGGG	0.687000			T	C15orf55	lethal midline carcinoma of young people								5	44					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8988966	8988966	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:8988966C>T	ENST00000344836.4	-	28	3159	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	USP7_ENST00000381886.4_Silent_p.E971E|USP7_ENST00000535863.1_Silent_p.E888E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	987					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGACAAGCATCTCATTCTCTT	0.498000													8	221					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145584147	145584147	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145584147T>C	ENST00000393045.2	+	11	1388	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	433					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAGCCCAGTCCAGGGGGGA	0.498000													5	218					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242594751	242594755	+	Frame_Shift_Del	DEL	GTCCT	GTCCT	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:242594751_242594755delGTCCT	ENST00000405546.3	+	6	953_957	c.451_455delGTCCT	c.(451-456)gfs	p.VL151fs	ATG4B_ENST00000404914.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	151					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCGCCCAGGTCCTGAAGTATGTA	0.546													4	9	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													9	170	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)del	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				2	4	---	---	---	---					
RP11-578F21.10	0	broad.mit.edu	37	15	29033936	29033937	+	RNA	INS	-	-	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:29033936_29033937insG	ENST00000430589.1	+	0	293_294					NR_036475.2																						TGCAGGGGCGCGGGGGGGAGGG	0.708													2	4	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													7	299	---	---	---	---					
CEACAM16	388551	broad.mit.edu	37	19	45211437	45211437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:45211437delG	ENST00000587331.1	+	6	1460	c.1245delG	c.(1243-1245)ctfs	p.L415fs	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Frame_Shift_Del_p.L415fs	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	415										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTGAGACACTGGAAGTGGAGC	0.582													2	4	---	---	---	---					
AMELY	266	broad.mit.edu	37	Y	6736157	6736158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chrY:6736157_6736158insG	ENST00000215479.5	-	5	560_561	c.493_494insC	c.(493-495)gcgfs	p.A165fs	AMELY_ENST00000383036.1_Frame_Shift_Ins_p.A179fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.A179fs	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	179	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						CAGGGGCCGCAGGGGGAACATT	0.619													5	2	---	---	---	---