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
ZNF646	9726	broad.mit.edu	37	16	31090150	31090150	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:31090150C>T	ENST00000394979.2	+	1	2928	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	ZNF646_ENST00000300850.5_Silent_p.G835G			O15015	ZN646_HUMAN	zinc finger protein 646	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGCCACTGGCCTGCTGAGCC	0.622000													52	160					0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065626	3065626	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:3065626G>A	ENST00000396925.1	-	3	825	c.397C>T	c.(397-399)Cta>Tta	p.L133L	CLDN6_ENST00000328796.4_Silent_p.L133L|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	133					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACGGGGATTAGCGTCAGGACC	0.607000													10	72					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201284007	201284007	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:201284007A>G	ENST00000358677.5	+	6	480	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409988.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCCAAGCAGCATCAAGGCAAC	0.448000													7	18					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37907473	37907473	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:37907473C>G	ENST00000199447.4	+	11	1163	c.791C>G	c.(790-792)cCt>cGt	p.P264R	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P264R	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	264					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CAGGTTACACCTGGAATGATG	0.458000													20	71					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5264854	5264854	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:5264854C>A	ENST00000262477.6	+	9	1671	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q483K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GACACCAGAACAAGAAGAGAC	0.478000													41	75					1.57019e-19	1.66256e-19	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70493911	70493911	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:70493911G>C	ENST00000310961.5	+	19	2171	c.1753G>C	c.(1753-1755)Gta>Cta	p.V585L	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.V580L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	580						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGAATATGGTAAAATCTGT	0.338000													53	153					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80923550	80923550	+	Missense_Mutation	SNP	C	C	G	rs142904836		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:80923550C>G	ENST00000576599.1	-	7	994	c.244G>C	c.(244-246)Ggc>Cgc	p.G82R	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G193R|B3GNTL1_ENST00000571954.1_5'UTR			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	193							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTAAAGGGGCCCACGTGGGAG	0.592000													12	17					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204100	9204100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:9204100C>A	ENST00000429566.3	+	1	246	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCCATGTACTTCTTCCTGG	0.542000													5	179					0.014758	0.0149658	1	1	0
SON	6651	broad.mit.edu	37	21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	rs142324795		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493000													13	455					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75331188	75331188	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433000													4	147					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100667129	100667129	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:100667129C>T	ENST00000375119.3	-	5	1288	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	404					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAGTGACATGCGCTATGTCTA	0.552000													4	164					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158081	102158081	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:102158081C>T	ENST00000299314.7	-	13	2876	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	872					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTTCAGTAACGCCTATGTGA	0.383000													33	688					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29684022	29684022	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29684022A>T	ENST00000358273.4	+	53	8166	c.7783A>T	c.(7783-7785)Aaa>Taa	p.K2595*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*|NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					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.?(3)|p.K2595E(2)|p.K2595fs*5(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)		ACATTTACGTAAAGTTTCAGT	0.418000			"""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)			92	350					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	rs145943944	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:28378749C>T	ENST00000337532.5	-	13	1250	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313000													15	119					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23487582	23487582	+	Silent	SNP	T	T	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:23487582T>A	ENST00000263116.2	+	1	70	c.30T>A	c.(28-30)ctT>ctA	p.L10L	RAB36_ENST00000341989.4_Silent_p.L10L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTGGATGCTTGGACGCGCCG	0.667000													9	162					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49075985	49075985	+	Silent	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:49075985T>C	ENST00000344532.3	-	12	1560	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	RCBTB2_ENST00000430805.2_Silent_p.T384T|RCBTB2_ENST00000544492.1_Silent_p.T105T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	379							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCAGCCACTGTGAGGTGGT	0.438000													11	58					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877444	27877444	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27877444G>A	ENST00000374011.2	-	6	2151	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	AHDC1_ENST00000247087.5_Missense_Mutation_p.R395C	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	395	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTCCGCCGGCGACACAGGATC	0.716000													5	35					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479686	27479686	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:27479686G>A	ENST00000233535.4	-	6	1205	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	285					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTCTCGGAGGGTGGGAGCG	0.587000													14	78					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52993145	52993145	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:52993145G>A	ENST00000575882.1	+	7	995	c.642G>A	c.(640-642)atG>atA	p.M214I	TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	214	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGGTGAAAATGAATGTGCGAG	0.433000													134	194					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736491	27736491	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27736491C>T	ENST00000430629.2	-	8	1249	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	345					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGGAGGCGTCCCTGGAGACCC	0.627000													22	150					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159377	23159377	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:23159377T>A	ENST00000594710.1	-	4	907	c.762A>T	c.(760-762)aaA>aaT	p.K254N		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		ATTTGTAATGTTTCTCTCCAG	0.403000													4	83					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53279712	53279712	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:53279712A>G	ENST00000566029.1	+	15	3613	c.3404A>G	c.(3403-3405)aAt>aGt	p.N1135S	CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000398510.3_Missense_Mutation_p.N1135S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1135					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AACTTGGTCAATACCATGATG	0.313000													17	91					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217542	150217542	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:150217542C>T	ENST00000313543.4	+	2	637	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	160							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGGAGTGCGGGAACCGCT	0.502000													4	95					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127783859	127783859	+	Silent	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:127783859T>C	ENST00000243253.3	+	8	940	c.756T>C	c.(754-756)ttT>ttC	p.F252F	SEC61A1_ENST00000424880.2_Silent_p.F132F|SEC61A1_ENST00000464451.1_Silent_p.F258F|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000483956.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	252					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTTTGTCTTTGCAGTGGTCA	0.532000													88	228					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219895995	219895995	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:219895995G>A	ENST00000341552.5	-	8	931	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	283						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATGGGCTGGAGAACTCCCA	0.652000													4	36					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412039	68412039	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:68412039T>C	ENST00000396591.3	+	9	1680	c.1070T>C	c.(1069-1071)tTg>tCg	p.L357S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	357					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTCATTTTGTGTAAGCAT	0.393000													20	60					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6504600	6504600	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:6504600G>A	ENST00000377828.1	+	6	1218	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	350					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTAAGCAGCCGGATTCAGGCA	0.612000													21	79					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66449057	66449057	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:66449057C>T	ENST00000262139.5	-	2	156	c.157G>A	c.(157-159)Gga>Aga	p.G53R	WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	53					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTACTGCTTCCGTGGACTTGA	0.498000													6	149					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73565576	73565576	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:73565576G>A	ENST00000224721.6	+	55	7906	c.7901G>A	c.(7900-7902)cGc>cAc	p.R2634H	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2629	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCCCGCTGCGCTCCAACGTG	0.627000													10	30					0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49197836	49197836	+	Missense_Mutation	SNP	G	G	T	rs138343840	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:49197836G>T	ENST00000371621.3	+	9	1297	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	AAGTCGGGTCGTGGGGGGAAG	0.557000													22	50					3.6726e-16	3.83228e-16	1	1	0
SCYL3	57147	broad.mit.edu	37	1	169828224	169828224	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:169828224T>G	ENST00000367771.6	-	11	1484	c.1270A>C	c.(1270-1272)Act>Cct	p.T424P	SCYL3_ENST00000367770.1_Missense_Mutation_p.T424P|SCYL3_ENST00000367772.4_Missense_Mutation_p.T424P	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGGGGCAGTGCGTTTGAAG	0.393000													86	156					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8047182	8047182	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:8047182C>A	ENST00000317276.4	-	19	2711	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	825					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGTGCGGGGCCGTGGTGGCA	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					30	95					1.57351e-24	1.69094e-24	1	1	0
KERA	11081	broad.mit.edu	37	12	91449700	91449700	+	Missense_Mutation	SNP	A	A	G	rs145871038		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:91449700A>G	ENST00000266719.3	-	2	606	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	120					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAACTTCTTCAGCTGGCTTAG	0.383000													69	266					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48395776	48395776	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:48395776G>C	ENST00000380006.2	-	1	2017	c.564C>G	c.(562-564)caC>caG	p.H188Q	SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q|SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	188	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTAACATGAAGTGAAAGCCAA	0.423000													19	198					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453315	21453315	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:21453315C>G	ENST00000307378.6	-	9	1597	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	293					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTTGACCTCTTCTTTTTGT	0.299000													4	60					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805699	125805699	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:125805699C>T	ENST00000346248.5	-	2	672	c.30G>A	c.(28-30)caG>caA	p.Q10Q	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_Silent_p.Q10Q|CHST15_ENST00000421115.1_Silent_p.Q10Q	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	10					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGGTAACAGCTGTATGCAGC	0.607000													8	124					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902953	129902953	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:129902953C>T	ENST00000368654.3	-	13	7526	c.7151G>A	c.(7150-7152)gGc>gAc	p.G2384D	MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2384	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CATGGCTTTGCCTGCTGATGG	0.458000													47	690					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967443	106967443	+	RNA	SNP	A	A	C			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:106967443A>C	ENST00000390622.2	-	0	345																											CTTTACCTGGAGCTACAGCCA	0.522000													9	131					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	78					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	113631	113631	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:113631G>A	ENST00000262316.6	-	4	558	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	139					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGGGGGTGGCGTCTCGGTGCT	0.667000													33	92					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104492043	104492043	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:104492043C>T	ENST00000409874.4	+	26	2909	c.2861C>T	c.(2860-2862)cCt>cTt	p.P954L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	954	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTCTGGCACCTTTTGCTGAT	0.438000													33	447					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790640	194790640	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:194790640C>T	ENST00000310380.6	-	4	1094	c.986G>A	c.(985-987)gGg>gAg	p.G329E	XXYLT1_ENST00000437101.1_Missense_Mutation_p.G126E|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G126E|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.G123E|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G183E	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	329						integral to membrane	transferase activity, transferring glycosyl groups										GTCCTGGTCCCCGAGGTGGCC	0.652000													31	91					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7261741	7261741	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:7261741C>G	ENST00000266542.4	-	1	128	c.36G>C	c.(34-36)tgG>tgC	p.W12C	C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000536679.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	12					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGGCTTCTCCAGAGATATT	0.602000											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56297190	56297190	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:56297190G>A	ENST00000408946.2	-	2	263	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCCTCCTGGGGCACATATCCT	0.493000													12	151					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													6	80					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860001	26860001	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:26860001G>A	ENST00000398145.2	-	11	2211	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	532					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAGGACTCTGCTGGTGTCAG	0.607000									Hermansky-Pudlak syndrome				44	107					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031673	119031673	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:119031673C>T	ENST00000307417.3	+	15	2162	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W|ABCG4_ENST00000449422.2_Missense_Mutation_p.R600W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	600	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCCGTTCCGGGAGCCACA	0.572000													6	63					0	0	1	0	0
KLRAP1	10748	broad.mit.edu	37	12	10748356	10748356	+	RNA	SNP	G	G	A	rs12321831	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:10748356G>A	ENST00000510134.2	-	0	315																				breast(1)|large_intestine(1)|lung(1)	3						TGTATAAGGCGTGAATCCAGT	0.313000													4	156					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76920268	76920268	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:76920268C>T	ENST00000373344.5	-	11	4024		c.e11-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTGGCAATTCTTGAGAGTAA	0.303000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						32	34					0	0	1	0	0
PSMB1	5689	broad.mit.edu	37	6	170852781	170852781	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr6:170852781C>T	ENST00000262193.6	-	4	439	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	AGCAATTGCCCCCGTAGTCAT	0.403000													48	178					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9534059	9534059	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:9534059C>T	ENST00000396602.2	+	13	1559	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000530463.1_Silent_p.D479D|ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000396604.1_Silent_p.D479D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	480					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	p.D480D(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAGGGGACGACGTTGTTTCTA	0.418000													38	244					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1023958	1023958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:1023958G>A	ENST00000421673.2	-	25	3421	c.3371C>T	c.(3370-3372)cCg>cTg	p.P1124L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1124					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGAAGGCCGGGGTCCTCCA	0.687000													3	51					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878107	39878107	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:39878107C>T	ENST00000530275.1	+	1	1957	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	588										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAAAAGAGCTGGATTATCA	0.448000													20	68					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403579	54403579	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000540413.1_Splice_Site|PRKCG_ENST00000542049.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCATGCAGCGTGAGTCTCGG	0.597000													21	64					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19694646	19694646	+	Silent	SNP	G	G	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr8:19694646G>A	ENST00000397977.3	+	13	2012	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGGAACCCTCGAAAGTAAAGC	0.403000													4	108					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765779	101765779	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:101765779C>T	ENST00000375001.3	+	8	1533	c.1110C>T	c.(1108-1110)agC>agT	p.S370S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	370	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGCCCATCAGCACTGCTGGAG	0.577000													23	175					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176378	10176378	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:10176378C>T	ENST00000380833.4	+	9	1528	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CLCN4_ENST00000421085.2_Silent_p.I285I|CLCN4_ENST00000380829.1_Silent_p.I348I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	379						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACTGCCATCACTGCCATCA	0.582000													23	247					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21361632	21361632	+	Silent	SNP	C	C	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:21361632C>T	ENST00000400602.2	-	21	3188	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000255305.6_Silent_p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1051					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458000													5	159					0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2343881	2343881	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:2343881delA	ENST00000288774.3	-	1	88	c.61delT	c.(61-63)tacfs	p.Y21fs	PEX10_ENST00000447513.2_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	21					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCACCGCGGTAGTACTCGTCC	0.801													2	4	---	---	---	---					
ERAP2	64167	broad.mit.edu	37	5	96232446	96232446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:96232446delT	ENST00000437043.3	+	9	2093	c.1382delT	c.(1381-1383)attfs	p.I461fs	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	461					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAGCTTGTATTTTGAATATG	0.303													50	191	---	---	---	---					
PCDHB11	56125	broad.mit.edu	37	5	140579893	140579894	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:140579893_140579894delGA	ENST00000354757.3	+	1	546_547	c.546_547delGA	c.(544-549)atgagafs	p.R183fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		183	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTAAAATGAGAGTCATTCC	0.431													66	160	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							ATGAGTCCTCCAAAAAAAACAT	0.475													7	548	---	---	---	---					
NR2E3	10002	broad.mit.edu	37	15	72104223	72104224	+	RNA	INS	-	-	G			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:72104223_72104224insG	ENST00000398840.2	+	0	539							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						AGGCGGGGGCTGGCCCGGGGGG	0.693													2	4	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29527570	29527571	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29527570_29527571insT	ENST00000358273.4	+	9	1402_1403	c.1019_1020insT	c.(1018-1023)tctgtcfs	p.V341fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.V341fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.V341fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	341					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.?(6)	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)		GAAGATAACTCTGTCATTTTCC	0.381			"""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)			66	160	---	---	---	---					
PPM1D	8493	broad.mit.edu	37	17	58740542	58740543	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:58740542_58740543delAC	ENST00000305921.3	+	6	1679_1680	c.1447_1448delAC	c.(1447-1449)actfs	p.T483fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	483					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAAGCCCTGACTTTAAGGATA	0.391											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	72	217	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													9	231	---	---	---	---					
RPL10	6134	broad.mit.edu	37	X	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:153627860delA	ENST00000424325.2	+	4	303	c.115delA	c.(115-117)aaafs	p.K40fs	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	40					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	210	---	---	---	---					
