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
PRMT7	54496	broad.mit.edu	37	16	68389759	68389759	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:68389759G>A	ENST00000339507.5	+	17	2614	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y	PRMT7_ENST00000449359.3_Missense_Mutation_p.C545Y|PRMT7_ENST00000441236.1_Missense_Mutation_p.C545Y|PRMT7_ENST00000348497.4_Missense_Mutation_p.C447Y			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	595					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.C595Y(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGCCCCTGTGTGCCGAGGGC	0.687000													7	19					0	0	0.001984	0	0
MEX3B	84206	broad.mit.edu	37	15	82336228	82336228	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:82336228G>A	ENST00000329713.4	-	2	1418	c.983C>T	c.(982-984)gCg>gTg	p.A328V	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	328					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.A328V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TCCGTTGTGCGCAAAGCTCAG	0.647000													33	86					0	0	0.004878	0	0
C10orf137	26098	broad.mit.edu	37	10	127426974	127426974	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:127426974C>T	ENST00000337623.3	+	14	1944	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	C10orf137_ENST00000356792.4_Silent_p.P647P	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.P613P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGGGGGTCCCGAGGGGCTAG	0.438000													18	98					0	0	0.006122	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43837660	43837660	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr12:43837660C>T	ENST00000389420.3	-	16	2223	c.2224G>A	c.(2224-2226)Gca>Aca	p.A742T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A742T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	742	Spacer.					proteinaceous extracellular matrix	zinc ion binding	p.A742T(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTGCTCCTGCGGGAATCTTT	0.383000													64	173					0	0	0.014410	0	0
HMX2	3167	broad.mit.edu	37	10	124907981	124907981	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:124907981C>T	ENST00000339992.3	+	1	344	c.87C>T	c.(85-87)ggC>ggT	p.G29G		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	29					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G29G(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGGCGGGGGCCCCTCGGAGG	0.701000													18	30					0	0	0.010504	0	0
SLC11A2	4891	broad.mit.edu	37	12	51393019	51393019	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr12:51393019G>A	ENST00000394904.3	-	8	749	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLC11A2_ENST00000262051.7_Missense_Mutation_p.R205W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R205W|SLC11A2_ENST00000546743.1_Missense_Mutation_p.R126W|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R234W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R201W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R205W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R205W	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	205					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.R205W(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TCTAGCTTCCGCAAGCCTAAA	0.453000													4	85					0	0	0.009096	0	0
UPF2	26019	broad.mit.edu	37	10	11973641	11973641	+	Splice_Site	SNP	T	T	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:11973641T>A	ENST00000356352.2	-	19	4160	c.3688_splice	c.e19+1	p.Q1229_splice	UPF2_ENST00000357604.5_Splice_Site_p.Q1229_splice|UPF2_ENST00000397053.2_Splice_Site_p.Q1229_splice			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1229	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.Q1229H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATTTTATACCTTGATAATCTT	0.338000													36	75					0	0	0.004878	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													9	289					0	0	0.006214	0	0
GPR45	11250	broad.mit.edu	37	2	105859409	105859409	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:105859409G>A	ENST00000258456.1	+	1	1210	c.1094G>A	c.(1093-1095)tGc>tAc	p.C365Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	365						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.C365Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GTCTACGTGTGCAATGAAAAC	0.602000													30	81					0	0	0.008361	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	8					0	0	0.006214	0	0
NAA11	84779	broad.mit.edu	37	4	80246366	80246366	+	Silent	SNP	T	T	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:80246366T>C	ENST00000286794.4	-	1	838	c.666A>G	c.(664-666)tcA>tcG	p.S222S	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	222						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.S222S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCGAGCTTTCTGAGCTGTCCT	0.537000													6	24					0	0	0.001168	0	0
OR8H1	219469	broad.mit.edu	37	11	56058356	56058356	+	Silent	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr11:56058356A>G	ENST00000313022.2	-	1	210	c.183T>C	c.(181-183)ttT>ttC	p.F61F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTAAGGAAAAAATACATGG	0.393000													83	142					0	0	0.014410	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1																						TCACCTAGCTCGGTGGTGAAC	0.652000													4	88					0	0	0.009096	0	0
SPATA31A1	647060	broad.mit.edu	37	9	39361018	39361018	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:39361018G>A	ENST00000377647.3	+	4	3285	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1									p.E1086K(1)									ACTGGTGCACGAGGAGCCCAG	0.542000													102	447					0	0	0.014410	0	0
CHST12	55501	broad.mit.edu	37	7	2472309	2472309	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr7:2472309T>G	ENST00000258711.6	+	2	170	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	12					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.V12G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGTGGCTGGTGCTGGGGTCG	0.662000													6	47					0	0	0.008291	0	0
PLCL1	5334	broad.mit.edu	37	2	198950357	198950357	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:198950357T>G	ENST00000428675.1	+	2	2514	c.2116T>G	c.(2116-2118)Tac>Gac	p.Y706D	PLCL1_ENST00000437704.2_Missense_Mutation_p.Y608D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	706					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y706D(1)|p.Y608D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGAAGTTTCTTACTTCAGCGC	0.483000													60	114					0	0	0.014410	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453707	84453707	+	Silent	SNP	G	G	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr13:84453707G>T	ENST00000377084.2	-	1	2821	c.1936C>A	c.(1936-1938)Cga>Aga	p.R646R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	646						integral to membrane		p.R646*(1)|p.R646R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GACCGCTTTCGGTTCCTCAGG	0.562000													15	35					6.31663e-08	8.20219e-08	0.003163	1	0
TAL1	6886	broad.mit.edu	37	1	47685806	47685806	+	Silent	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:47685806G>A	ENST00000371883.3	-	4	1164	c.588C>T	c.(586-588)agC>agT	p.S196S	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.S194S|TAL1_ENST00000294339.3_Silent_p.S194S			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	194					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.S194R(1)|p.S194S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ATCGCTCCCGGCTGTTGGTGA	0.562000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								18	24					0	0	0.007413	0	0
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr18:28991295G>A	ENST00000359747.4	+	14	2325	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A747T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612000													4	67					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	25					0	0	0.010729	0	0
SIK2	23235	broad.mit.edu	37	11	111591374	111591374	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr11:111591374A>T	ENST00000304987.3	+	11	1841	c.1668A>T	c.(1666-1668)agA>agT	p.R556S	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	556					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R556S(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAGCCTGAGACCTACCAACC	0.537000													40	81					0	0	0.008740	0	0
FARP1	10160	broad.mit.edu	37	13	98896791	98896791	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr13:98896791C>T	ENST00000376581.5	+	3	254	c.218C>T	c.(217-219)aCg>aTg	p.T73M	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T73M(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTCCTGGACGGGTTGGGTA	0.488000													15	41					0	0	0.002450	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	119					0	0	0.004672	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65208038	65208038	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:65208038A>G	ENST00000380230.3	+	2	106	c.77A>G	c.(76-78)aAc>aGc	p.N26S	ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Intron|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.N26S|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.N26S	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	26					signal transduction			p.N26S(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCCGCCAGAACAATGTCGGC	0.597000													12	41					0	0	0.010729	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701331	195701331	+	RNA	SNP	G	G	A	rs78212497	by1000genomes	TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr3:195701331G>A	ENST00000427841.1	-	0	1493					NR_003264.2																						GTCCAATAGCGAGTTTGCCCC	0.592000													9	54					0	0	0.006214	0	0
ZNF536	9745	broad.mit.edu	37	19	30935693	30935693	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr19:30935693C>A	ENST00000355537.3	+	2	1371	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D408E(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCCAGCGACCCCGAGGTGC	0.632000													14	56					1.05317e-09	1.40963e-09	0.002450	1	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													5	202					0	0	0.001168	0	0
DKK2	27123	broad.mit.edu	37	4	107846995	107846995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:107846995G>A	ENST00000285311.3	-	2	1039	c.334C>T	c.(334-336)Cga>Tga	p.R112*	DKK2_ENST00000513208.1_Nonsense_Mutation_p.R12*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.R66*	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	112	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493000													8	209					0	0	0.006214	0	0
METTL14	57721	broad.mit.edu	37	4	119626806	119626806	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:119626806G>T	ENST00000388822.4	+	10	1063	c.896G>T	c.(895-897)aGc>aTc	p.S299I	METTL14_ENST00000506780.1_Missense_Mutation_p.S261I			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	299						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.S299I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTGAAGCGTAGCACAGACGGG	0.373000													21	95					2.21704e-12	3.06162e-12	0.002780	1	0
MEFV	4210	broad.mit.edu	37	16	3304666	3304666	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:3304666C>T	ENST00000219596.1	-	2	441	c.402G>A	c.(400-402)ccG>ccA	p.P134P	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	134					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.P134P(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCCCCCGTACGGCCGAGGGC	0.697000													11	28					0	0	0.010729	0	0
CXCL6	6372	broad.mit.edu	37	4	74702790	74702790	+	Silent	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr4:74702790G>A	ENST00000226317.5	+	2	473	c.219G>A	c.(217-219)ccG>ccA	p.P73P	CXCL6_ENST00000515050.1_Silent_p.P73P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	73					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.P73P(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCGCAGGCCCGCAGTGCTCCA	0.542000													4	76					0	0	0.009096	0	0
SLC50A1	55974	broad.mit.edu	37	1	155108457	155108457	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:155108457T>G	ENST00000368404.4	+	1	132	c.70T>G	c.(70-72)Tcc>Gcc	p.S24A	SLC50A1_ENST00000368401.5_Missense_Mutation_p.L10R|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S24A|SLC50A1_ENST00000484157.1_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	24	MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	p.S24A(1)		endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TGGCATGTTCTCCGCCGGCCT	0.642000													9	37					0	0	0.010729	0	0
FBXO10	26267	broad.mit.edu	37	9	37541372	37541372	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr9:37541372C>G	ENST00000432825.2	-	2	442	c.394G>C	c.(394-396)Gac>Cac	p.D132H	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	132						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.D132H(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACAATTCGGTCATACAGGCTG	0.567000													34	109					0	0	0.012213	0	0
NRN1	51299	broad.mit.edu	37	6	6006965	6006965	+	Silent	SNP	G	G	A	rs144443923		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr6:6006965G>A	ENST00000244766.2	-	1	235	c.18C>T	c.(16-18)aaC>aaT	p.N6N		NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	6						anchored to membrane|plasma membrane		p.N6N(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TATATCTGCCGTTCAACTTAA	0.542000													34	119					0	0	0.003755	0	0
CLVS1	157807	broad.mit.edu	37	8	62371045	62371045	+	Silent	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr8:62371045C>T	ENST00000519846.1	+	6	1393	c.921C>T	c.(919-921)caC>caT	p.H307H	CLVS1_ENST00000325897.4_Silent_p.H307H|CLVS1_ENST00000518592.1_Silent_p.H28H			Q8IUQ0	CLVS1_HUMAN	clavesin 1	307					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.H307H(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATGCAATGCACGTGAAGCATA	0.512000													18	61					0	0	0.007413	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351918	41351918	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr19:41351918C>T	ENST00000301141.5	-	6	936	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	306					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	p.V306I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GTGGTGCTGACGGTCTCGGTG	0.597000													27	63					0	0	0.006320	0	0
PCSK6	5046	broad.mit.edu	37	15	101971641	101971641	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:101971641G>A	ENST00000348070.1	-	5	537	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	PCSK6_ENST00000331826.7_Missense_Mutation_p.R15W|PCSK6_ENST00000398181.2_Missense_Mutation_p.R180W|PCSK6_ENST00000344273.2_Missense_Mutation_p.R180W|PCSK6_ENST00000358417.3_Missense_Mutation_p.R180W|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	181	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.R180W(3)|p.R15W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTTCCGACCGGCAGCGACTG	0.527000													11	18					0	0	0.010729	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	48					0	0	0.009096	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374365	31374365	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr20:31374365C>T	ENST00000328111.2	+	5	685	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	DNMT3B_ENST00000344505.4_Missense_Mutation_p.R122C|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R134C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R122C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R122C|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	122	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.R134C(1)|p.R122C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTTCCCCACGTTCCACCCG	0.632000													16	58					0	0	0.006122	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													4	317					0	0	0.009096	0	0
FSTL4	23105	broad.mit.edu	37	5	132736615	132736615	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr5:132736615C>T	ENST00000265342.7	-	4	473	c.224G>A	c.(223-225)cGg>cAg	p.R75Q		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	75						extracellular region	calcium ion binding	p.R75Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCACGCACCGGCTCCCTCG	0.612000													16	45					0	0	0.004007	0	0
KDM5B	10765	broad.mit.edu	37	1	202699065	202699065	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:202699065G>C	ENST00000367265.3	-	26	5431	c.4267C>G	c.(4267-4269)Cgg>Ggg	p.R1423G	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1459G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1423					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R1423G(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGTTCCCACCGCTCACTGGAG	0.483000													41	116					0	0	0.005524	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	17					3.41278e-10	4.63925e-10	0.004990	1	0
NUP43	348995	broad.mit.edu	37	6	150057671	150057671	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr6:150057671C>A	ENST00000340413.2	-	6	802	c.726G>T	c.(724-726)ttG>ttT	p.L242F	NUP43_ENST00000460354.2_Missense_Mutation_p.L242F|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	242					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.L242F(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CCCAAATACTCAACATTCCAT	0.443000													20	61					1.2644e-06	1.61769e-06	0.010504	1	0
NEDD8	4738	broad.mit.edu	37	14	24687421	24687421	+	Splice_Site	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr14:24687421C>T	ENST00000250495.5	-	3	253	c.66_splice	c.e3-1	p.V23_splice	NEDD8_ENST00000524927.1_Splice_Site_p.V23_splice|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.V23_splice	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8									p.V23M(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		ATTCGCTCCACCTTTAGAGAG	0.517000													23	62					0	0	0.014323	0	0
DUOX2	50506	broad.mit.edu	37	15	45405197	45405197	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:45405197G>A	ENST00000389039.6	-	3	533	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	DUOX2_ENST00000603300.1_Missense_Mutation_p.R50C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	50	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.R50C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACAGCACCACGCTCGTGGTGC	0.677000													15	42					0	0	0.004007	0	0
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					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.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522000													3	61					0	0	0.004672	0	0
NDUFV1	4723	broad.mit.edu	37	11	67378532	67378532	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr11:67378532G>A	ENST00000322776.6	+	6	920	c.767G>A	c.(766-768)cGc>cAc	p.R256H	NDUFV1_ENST00000532303.1_Missense_Mutation_p.R155H|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Missense_Mutation_p.R249H|NDUFV1_ENST00000529927.1_Missense_Mutation_p.R247H	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	256					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	p.R256H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	ACAATCTGCCGCCGTGGAGGT	0.562000													18	64					0	0	0.006122	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40284374	40284374	+	Splice_Site	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:40284374A>G	ENST00000263791.5	+	17	2674		c.e17-1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.?(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTATATTTTTAGGCTGACAGC	0.353000													3	73					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215823979	215823979	+	Silent	SNP	A	A	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:215823979A>G	ENST00000366943.2	-	65	14684	c.14298T>C	c.(14296-14298)agT>agC	p.S4766S	USH2A_ENST00000307340.3_Silent_p.S4766S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4766	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4766S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTGTAGAGACTGACGATCC	0.532000										HNSCC(13;0.011)			28	82					0	0	0.007291	0	0
COL4A2	1284	broad.mit.edu	37	13	111154090	111154090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr13:111154090C>T	ENST00000360467.5	+	41	4142	c.3836C>T	c.(3835-3837)gCa>gTa	p.A1279V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1279	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.A1279V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ATCTCTGGGGCACCTGGTGAC	0.547000													13	42					0	0	0.004990	0	0
MORC3	23515	broad.mit.edu	37	21	37741350	37741350	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr21:37741350C>G	ENST00000400485.1	+	15	1760	c.1684C>G	c.(1684-1686)Cag>Gag	p.Q562E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	562					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	p.Q562E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATTGAGTAGTCAGTTTGAAAA	0.323000													3	39					0	0	0.004672	0	0
UBFD1	56061	broad.mit.edu	37	16	23569456	23569456	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:23569456G>A	ENST00000395878.3	+	2	592	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Missense_Mutation_p.V71I|UBFD1_ENST00000219638.4_Missense_Mutation_p.V295I|UBFD1_ENST00000567212.1_Missense_Mutation_p.V62I	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	71								p.V71I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CCAGGCCTCGGTCAGCAACGG	0.731000													18	29					0	0	0.008871	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218307	134218307	+	Silent	SNP	A	A	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:134218307A>C	ENST00000305233.5	+	2	362	c.303A>C	c.(301-303)ccA>ccC	p.P101P	PWWP2B_ENST00000368609.4_Silent_p.P101P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	101	Pro-rich.							p.P101P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCGAGCCACCCCCGCCCC	0.756000													5	5					0	0	0.001984	0	0
XRN1	54464	broad.mit.edu	37	3	142137373	142137373	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr3:142137373G>A	ENST00000264951.4	-	12	1436	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	XRN1_ENST00000463916.1_Missense_Mutation_p.T440M|XRN1_ENST00000392981.2_Missense_Mutation_p.T440M|XRN1_ENST00000544157.1_Missense_Mutation_p.T230M	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	440					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.T440M(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CCCCATCTTCGTCATGTAATA	0.299000													14	52					0	0	0.004007	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													3	31					0	0	0.009096	0	0
MYH7B	57644	broad.mit.edu	37	20	33570262	33570262	+	Splice_Site	SNP	C	C	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr20:33570262C>T	ENST00000262873.7	+	8	746	c.653_splice	c.e8-1	p.T218_splice		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	176	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.T218T(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)			GTCGTCCAAGCGGAGAGTCGG	0.602000													8	26					0	0	0.004482	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	38					0	0	0.009096	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													4	7	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75550806	75550807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr10:75550806_75550807insT	ENST00000604729.1	+	8	1312_1313	c.1015_1016insT	c.(1015-1017)gagfs	p.E339fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.E339fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.E339fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.E339fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.E339fs					zinc finger, SWIM-type containing 8																		GCTGCGCCCTCTGAGGGGCCGT	0.569													35	85	---	---	---	---					
NKX2-1	7080	broad.mit.edu	37	14	36988339	36988340	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr14:36988339_36988340insC	ENST00000518149.1	-	2	828_829	c.223_224insG	c.(223-225)gccfs	p.A75fs	NKX2-1_ENST00000522719.2_Frame_Shift_Ins_p.A75fs|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Frame_Shift_Ins_p.A75fs|NKX2-1_ENST00000354822.5_Frame_Shift_Ins_p.A105fs			P43699	NKX21_HUMAN	NK2 homeobox 1	75					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCTGGGGCACCCCCGCCGCC	0.723			A		NSCLC								9	27	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25299375	25299376	+	RNA	INS	-	-	A			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:25299375_25299376insA	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							GATGAGTCCCCAAAAAAAACAT	0.495													7	223	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													5	6	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	5	---	---	---	---					
SLC7A6	9057	broad.mit.edu	37	16	68330539	68330539	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr16:68330539delT	ENST00000566454.1	+	11	1548	c.1279delT	c.(1279-1281)ttfs	p.F428fs	SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	428					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCTGAGCGTGTTTTTCCCCAT	0.522													8	382	---	---	---	---					
ADGRE4P	326342	broad.mit.edu	37	19	6967896	6967896	+	RNA	DEL	G	G	-	rs147408320	by1000genomes	TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr19:6967896delG	ENST00000600751.1	-	0	1241					NR_024075.1																						tccctctaccgcctccttcct	0.478													2	4	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10637059	10637060	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-05-4433-01A-22D-1855-08	TCGA-05-4433-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab4f1ca-1605-4c30-8b3e-badb44eb6580	b4ea29e6-c7ca-4290-8efd-9bdb823edbee	g.chr20:10637059_10637060insGA	ENST00000254958.5	-	5	1256_1257	c.741_742insTC	c.(739-744)ctcaggfs	p.R248fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R89fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	248	EGF-like 1.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCACCTGGGAGTTTGCAAG	0.441									Alagille Syndrome				22	71	---	---	---	---					
