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
VILL	50853	broad.mit.edu	37	3	38043319	38043319	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:38043319G>A	ENST00000283713.6	+	13	1713	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	VILL_ENST00000383759.2_Missense_Mutation_p.A483T|VILL_ENST00000465644.1_Missense_Mutation_p.A201T			O15195	VILL_HUMAN	villin-like	483					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCACTTCCTCGCCATCTTCCA	0.607000													14	42					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586416	143586416	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:143586416C>T	ENST00000507359.2	+	2	1230	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	47	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P47S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GATAAGCATCCCTCATTCCCT	0.473000													7	60					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	45					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73806412	73806412	+	Silent	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:73806412C>T	ENST00000334126.7	-	17	3247	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E	C2CD3_ENST00000313663.7_Silent_p.E1007E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1007						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTATATGGATCTCAAAGCAGT	0.433000													10	110					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85704656	85704656	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:85704656G>A	ENST00000253458.7	+	15	3647	c.3471G>A	c.(3469-3471)cgG>cgA	p.R1157R	GSE1_ENST00000393243.1_Silent_p.R1084R|GSE1_ENST00000405402.2_Silent_p.R1053R	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		TGGAGGCCCGGCACTACAGCC	0.542000													9	60					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:48699408G>A	ENST00000557021.1	-	8	1170	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GATGCTATATGAATTCTGCCA	0.423000													7	81					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116380017	116380017	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:116380017G>A	ENST00000397752.3	+	4	1606	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_ENST00000436117.2_Missense_Mutation_p.R469Q|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.R469Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	469	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	183					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69369214	69369214	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:69369214C>T	ENST00000193403.6	-	8	1125	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	248					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGAGAAGGCGTGGTAGAAG	0.577000													21	70					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038990	11038990	+	RNA	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:11038990G>A	ENST00000470054.1	-	0	1213									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATAGATTTGCCTCCTTGGT	0.398000													13	603					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38451607	38451607	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:38451607G>A	ENST00000209728.4	+	8	1554		c.e8-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTTGTCTGAAGGTATCTAGAG	0.408000													41	77					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45016041	45016041	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45016041G>A	ENST00000576910.2	+	5	489	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	GOSR2_ENST00000393456.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q			O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	185					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATCGAGAAGCGGGCTTTCCAG	0.527000													68	106					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51715312	51715312	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr18:51715312T>C	ENST00000256429.3	-	3	1000	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	258					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTTGTGACTTTGGTTACCGGT	0.333000													4	156					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722547	129722547	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:129722547C>A	ENST00000281441.3	+	2	258	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	TMEM45B_ENST00000524567.1_Missense_Mutation_p.S57Y	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACTTTGTTTTCCGTCACTGGT	0.468000													9	66					1.08611e-07	1.19259e-07	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78487029	78487029	+	Missense_Mutation	SNP	C	C	T	rs148216585		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:78487029C>T	ENST00000258873.4	-	3	477	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	91					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TATGCGCAGGCGCACCCGCCC	0.632000													14	109					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101448501	101448501	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr10:101448501G>A	ENST00000370489.4	+	7	881	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	235						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ATTCGACCACGAGGATGGTGA	0.363000													15	210					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169111328	169111328	+	Silent	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:169111328C>T	ENST00000256935.8	+	8	815	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	245					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTCTCTACGACCCCAACA	0.493000													12	87					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								42	66					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279863	46279863	+	Silent	SNP	G	G	A	rs67218125	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:46279863G>A	ENST00000372004.3	+	20	3993	c.3777G>A	c.(3775-3777)caG>caA	p.Q1259Q	NCOA3_ENST00000371997.3_Silent_p.Q1254Q|NCOA3_ENST00000371998.3_Silent_p.Q1263Q|NCOA3_ENST00000341724.6_Silent_p.Q1189Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcaac	0.567000													4	65					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039755	166039755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:166039755G>A	ENST00000338353.3	-	3	1098	c.509C>T	c.(508-510)aCg>aTg	p.T170M	FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	170										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAGCCAGGTCGTGAAACTTTG	0.507000													9	165					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35985740	35985740	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:35985740A>G	ENST00000297866.5	+	10	1671	c.1605A>G	c.(1603-1605)atA>atG	p.I535M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	535										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAAAAGGTATATTGCCTTCGA	0.323000													9	25					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263208	48263208	+	Silent	SNP	G	G	C	rs1800219	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:48263208G>C	ENST00000225964.5	-	50	4297	c.4179C>G	c.(4177-4179)tcC>tcG	p.S1393S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1393	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGATCTCGTTGGAGCCCTGGA	0.632000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						27	43					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65219568	65219568	+	RNA	SNP	G	G	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:65219568G>C	ENST00000442266.1	+	0	282																											AGCCCAGGATGATATAACTGG	0.383000													3	84					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43173619	43173619	+	RNA	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr8:43173619G>A	ENST00000522175.2	+	0	905							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATGCAGAAGCATGGAAGTA	0.358000													9	107					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70975652	70975652	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:70975652G>A	ENST00000393567.2	-	43	6890	c.6740C>T	c.(6739-6741)gCc>gTc	p.A2247V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2247										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGAGGAGGGCGGCTGCAGC	0.537000													50	72					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	23					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468000													15	97					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990472	215990472	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:215990472A>G	ENST00000366943.2	-	48	9823	c.9437T>C	c.(9436-9438)cTa>cCa	p.L3146P	USH2A_ENST00000307340.3_Missense_Mutation_p.L3146P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3146	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		TGTTTTCCATAGGAGATCATA	0.413000										HNSCC(13;0.011)			55	71					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													4	71					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23400383	23400383	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:23400383G>A	ENST00000307149.5	-	17	2356	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	724					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGCCCAGGGCATCCATCAC	0.627000													3	38					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468109	56468109	+	Silent	SNP	G	G	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:56468109G>C	ENST00000312153.1	+	1	246	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488000													5	122					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556222	29556222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29556222T>A	ENST00000358273.4	+	21	2972	c.2589T>A	c.(2587-2589)taT>taA	p.Y863*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	863					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCAACCTATAGCCCACCCA	0.502000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			28	43					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371635	31371635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:31371635C>T	ENST00000268296.4	+	8	833	c.712C>T	c.(712-714)Cga>Tga	p.R238*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	238	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGATAGGCACCGATTGTTCCA	0.498000													55	95					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949792	45949792	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:45949792C>T	ENST00000531526.1	+	13	1930	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	607					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGCTCAGGCCCCGTACCGTGT	0.657000													73	116					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704304	47704304	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47704304G>A	ENST00000397708.1	-	2	1151	c.897C>T	c.(895-897)cgC>cgT	p.R299R	MCM3AP_ENST00000291688.1_Silent_p.R299R			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	299					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTTGGGGAGCGATCCTGGT	0.577000													8	130					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171073874	171073874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:171073874C>T	ENST00000334231.6	+	6	599	c.599C>T	c.(598-600)tCt>tTt	p.S200F	MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F|MYO3B_ENST00000408978.4_Missense_Mutation_p.S191F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	191	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAAACACATCTGTTGGCACC	0.448000													9	294					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189539	167189539	+	Silent	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:167189539T>C	ENST00000476257.1	-	3	382	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000264677.4_Silent_p.E28E|SERPINI2_ENST00000461846.1_Silent_p.E28E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	28					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCACTGCAAATTCGGTATTTT	0.373000													55	74					0	0	1	0	0
PCDHGB4	0	broad.mit.edu	37	5	140768348	140768348	+	Silent	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:140768348T>C	ENST00000519479.1	+	1	897	c.897T>C	c.(895-897)atT>atC	p.I299I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGGAAATTACTGTTTTAA	0.438000													3	45					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1623982	1623982	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:1623982C>A	ENST00000262965.5	-	8	861	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	TCF3_ENST00000453954.2_Missense_Mutation_p.V89F|TCF3_ENST00000395423.3_Missense_Mutation_p.V122F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000588136.1_Missense_Mutation_p.V173F	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	173					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTCCGGACCTTCTTGGGC	0.637000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								14	27					8.00594e-06	8.62178e-06	1	1	0
PEX1	5189	broad.mit.edu	37	7	92134081	92134081	+	Missense_Mutation	SNP	C	C	T	rs61750412		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:92134081C>T	ENST00000248633.4	-	12	2131	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	PEX1_ENST00000438045.1_Missense_Mutation_p.S357N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.S96N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	679			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGCATCAGGACTGTGCTCATG	0.517000													5	78					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)afs	p.I443fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"""F, N"""		oligodendroglioma								44	17	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150935061	150935062	+	Splice_Site	DEL	AG	AG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:150935061_150935062delAG	ENST00000271640.5	+	18	3348		c.e18-1		SETDB1_ENST00000368969.4_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTCCCATTAGAGTTACTGAA	0.470													13	127	---	---	---	---					
KCNT2	343450	broad.mit.edu	37	1	196227362	196227364	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:196227362_196227364delTTT	ENST00000367433.5	-	25	3200_3202	c.3099_3101delAAA	c.(3097-3102)aat>aa	p.KN1033del	KCNT2_ENST00000294725.8_In_Frame_Del_p.KN1057del|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_In_Frame_Del_p.KN991del|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1057						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCATTCTATTTTTCACAAGTT	0.389													11	146	---	---	---	---					
HDAC11	79885	broad.mit.edu	37	3	13538268	13538268	+	Frame_Shift_Del	DEL	C	C	-	rs149720388		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:13538268delC	ENST00000295757.3	+	4	468	c.285delC	c.(283-285)atfs	p.I95fs	HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000522202.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCACAGAAATCCCCCCCGTTA	0.577											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87964919	87964920	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr6:87964919_87964920delAA	ENST00000369577.3	+	8	1615_1616	c.1572_1573delAA	c.(1570-1575)ttgafs	p.LR524fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.LR519fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAACAGTTAAGAGAGAGGGG	0.406													15	27	---	---	---	---					
NSUN5	55695	broad.mit.edu	37	7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:72722449_72722451delCTT	ENST00000428206.1	-	2	206_208	c.193_195delAAG	c.(193-195)del	p.K65del	NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000252594.6_In_Frame_Del_p.K65del	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	65							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCGGCCGCAGCTTCTTCTCCGCA	0.660													9	109	---	---	---	---					
ACTR3B	57180	broad.mit.edu	37	7	152497701	152497703	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:152497701_152497703delAGG	ENST00000256001.8	+	3	320_322	c.186_188delAGG	c.(184-189)ata>at	p.IG62del	ACTR3B_ENST00000377776.3_In_Frame_Del_p.IG62del|ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	62					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTTTTTCATAGGAGATGAAGCC	0.399													7	118	---	---	---	---					
PRMT8	56341	broad.mit.edu	37	12	3649898	3649900	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:3649898_3649900delGAG	ENST00000382622.3	+	2	592_594	c.202_204delGAG	c.(202-204)del	p.E69del	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	69					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAACCCAGAGGAGATGACCT	0.581													9	306	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53875958	53875961	+	Frame_Shift_Del	DEL	TAGA	TAGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:53875958_53875961delTAGA	ENST00000267079.2	-	14	2470_2473	c.2245_2248delTCTA	c.(2245-2250)ccfs	p.ST749fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	749					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCTGAAGGTAGATAGTGACTGG	0.520											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	140	---	---	---	---					
GOLGA8EP	0	broad.mit.edu	37	15	23445447	23445449	+	RNA	DEL	AAG	AAG	-	rs149537623	by1000genomes	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:23445447_23445449delAAG	ENST00000526079.1	+	0	2267_2269					NR_027407.1|NR_033350.1																						CTTGGCTGCCAAGAAGAAGGAGA	0.463													7	284	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45455798	45455800	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:45455798_45455800delGGA	ENST00000321429.4	+	33	4724_4726	c.4317_4319delGGA	c.(4315-4320)gtg>gt	p.VE1439del	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_In_Frame_Del_p.VE1439del|DUOX1_ENST00000561166.1_In_Frame_Del_p.VE1085del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1439					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)		TCCGAGAGGTGGAGGAGAATGAC	0.571											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	109	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	3	---	---	---	---					
RBBP6	5930	broad.mit.edu	37	16	24583552	24583553	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:24583552_24583553delAA	ENST00000319715.4	+	18	5597_5598	c.5165_5166delAA	c.(5164-5166)gfs	p.E1722fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1722					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		Agctcagcagaaagtcaggaca	0.485													10	26	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			53	264	---	---	---	---					
GPR179	440435	broad.mit.edu	37	17	36489867	36489869	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:36489867_36489869delGAA	ENST00000342292.4	-	9	1857_1859	c.1837_1839delTTC	c.(1837-1839)del	p.F613del		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	613						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTGGGTGTGGAAGAAGAAGAGG	0.621											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													11	173	---	---	---	---					
MED16	10025	broad.mit.edu	37	19	891130	891131	+	Translation_Start_Site	DEL	AT	AT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:891130_891131delAT	ENST00000312090.6	-	0	151_152				MED16_ENST00000269814.4_Start_Codon_Del|MED16_ENST00000395808.3_Start_Codon_Del|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000589119.1_Start_Codon_Del|MED16_ENST00000325464.1_Start_Codon_Del			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAATCACACATGAGGGCAGTC	0.619													42	89	---	---	---	---					
DIP2A	23181	broad.mit.edu	37	21	47959885	47959888	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47959885_47959888delCTGA	ENST00000318711.7	+	17	2203_2206	c.2020_2023delCTGA	c.(2020-2025)ctfs	p.LT674fs	DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000417564.2_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	673					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCCTGAGGCGCTGACTGTCGCCAT	0.534													7	142	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)del	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													3	6	---	---	---	---					
