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
NYNRIN	57523	broad.mit.edu	37	14	24884335	24884335	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr14:24884335A>C	ENST00000382554.3	+	9	3698	c.3380A>C	c.(3379-3381)gAc>gCc	p.D1127A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGAAGCCTGACTGGCAGTGG	0.627000													5	31					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228257	3228257	+	Missense_Mutation	SNP	C	C	T	rs143264543	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:3228257C>T	ENST00000217939.6	-	7	8141	c.7987G>A	c.(7987-7989)Ggg>Agg	p.G2663R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2663	Ig-like C2-type 11.					extracellular region		p.G2663R(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCCAGCCCCGGGAGGGGTG	0.592000													5	27					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090194	31090194	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:31090194G>A	ENST00000394979.2	+	1	2972	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C850Y			O15015	ZN646_HUMAN	zinc finger protein 646	850					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						ATCTATCAGTGCTCCCTCTGC	0.632000													14	70					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164534519	164534519	+	Silent	SNP	A	A	G			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr4:164534519A>G	ENST00000503008.1	-	5	1165	c.189T>C	c.(187-189)gcT>gcC	p.A63A	MARCH1_ENST00000514618.1_Silent_p.A63A|MARCH1_ENST00000274056.7_Silent_p.A63A|MARCH1_ENST00000339875.5_Silent_p.A46A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	63	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTCCTGGGAGCTGTCCCTG	0.413000													9	79					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41879198	41879198	+	Silent	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:41879198C>T	ENST00000398393.1	-	18	1964	c.1704G>A	c.(1702-1704)cgG>cgA	p.R568R	MPP3_ENST00000398389.4_Silent_p.R543R			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	543	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCCGTAATGCCGGTCTATGA	0.547000													4	91					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44588048	44588048	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr20:44588048T>G	ENST00000322927.2	-	15	2145	c.2045A>C	c.(2044-2046)tAc>tCc	p.Y682S	ZNF335_ENST00000426788.1_Missense_Mutation_p.Y527S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAAGTGGCAGTACTCACAGGC	0.617000													3	27					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029346	102029346	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr13:102029346C>T	ENST00000251127.6	-	5	518	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398000													12	51					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067276	66067276	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:66067276C>T	ENST00000349533.6	+	9	1381	c.1196C>T	c.(1195-1197)aCc>aTc	p.T399I	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T399I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T399I|LEPR_ENST00000371059.3_Missense_Mutation_p.T399I|LEPR_ENST00000371060.3_Missense_Mutation_p.T399I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	399	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTGAATGAAACCAAACCTCGA	0.363000													4	59					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170874	77170874	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr18:77170874C>A	ENST00000253506.5	+	2	968	c.599C>A	c.(598-600)cCc>cAc	p.P200H	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.P187H|NFATC1_ENST00000542384.1_Missense_Mutation_p.P200H|NFATC1_ENST00000427363.2_Missense_Mutation_p.P200H|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P200H|NFATC1_ENST00000329101.4_Missense_Mutation_p.P187H|NFATC1_ENST00000592223.1_Missense_Mutation_p.P187H|NFATC1_ENST00000591814.1_Missense_Mutation_p.P200H|NFATC1_ENST00000586434.1_Missense_Mutation_p.P187H	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	200	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TACGCGTCCCCCCAGACGTCG	0.687000													8	88					0.0477658	0.0477658	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234452357	234452357	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:234452357G>A	ENST00000366618.3	+	5	983	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A211T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	211					transport	integral to membrane		p.A280T(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GATTGTGGCCGCCATCCTCGC	0.582000													15	403					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:140346986G>A	ENST00000289269.5	+	1	1167	c.635G>A	c.(634-636)cGt>cAt	p.R212H	PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		212	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGTAAGGGCCTA	0.617000													3	16					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12826131	12826131	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:12826131C>T	ENST00000425528.1	-	8	931	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	TNPO2_ENST00000588216.1_Missense_Mutation_p.A192T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Missense_Mutation_p.A192T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A192T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A192T|TNPO2_ENST00000592287.1_Missense_Mutation_p.A192T			O14787	TNPO2_HUMAN	transportin 2	192					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGCGATGGCGTGGGACCTG	0.667000													3	29					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49428638	49428638	+	Missense_Mutation	SNP	C	C	A	rs35087111		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr12:49428638C>A	ENST00000301067.7	-	35	10311	c.10312G>T	c.(10312-10314)Gtg>Ttg	p.V3438L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.I3165fs*13(1)									TGAGCCATCACTTTCTTGATG	0.512000													4	59					5.9392e-07	6.54835e-07	1	1	0
SYT9	143425	broad.mit.edu	37	11	7324413	7324413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:7324413G>T	ENST00000318881.6	+	2	526	c.289G>T	c.(289-291)Gag>Tag	p.E97*	SYT9_ENST00000396716.2_Nonsense_Mutation_p.E65*	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	97						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACAACCAGGAGCCCCTTAA	0.547000													5	67					0.000602214	0.000631591	1	1	0
RPUSD1	113000	broad.mit.edu	37	16	836244	836244	+	Silent	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:836244G>A	ENST00000561734.1	-	5	888	c.645C>T	c.(643-645)atC>atT	p.I215I	RPUSD1_ENST00000007264.2_Silent_p.I215I|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.I86I			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	215					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGTCCGTGGGGATGCGCAGGT	0.672000													11	72					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18765711	18765711	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:18765711C>T	ENST00000396170.1	-	4	1397	c.133G>A	c.(133-135)Gag>Aag	p.E45K	PTPN5_ENST00000396167.2_Missense_Mutation_p.E45K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E45K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.E21K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E45K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	45						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCTTCAGCCTCGTCCAGTGCC	0.672000													12	99					0	0	1	0	0
MED11	400569	broad.mit.edu	37	17	4635145	4635145	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:4635145G>A	ENST00000293777.5	+	2	216	c.160G>A	c.(160-162)Gct>Act	p.A54T	MED11_ENST00000573708.1_Missense_Mutation_p.A54T|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.A54T	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	54					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						GGCCTTCACCGCTTCAGTGCA	0.627000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	32					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99133362	99133362	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr10:99133362G>A	ENST00000370992.4	-	17	2107	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	RRP12_ENST00000315563.6_Missense_Mutation_p.R566C|RRP12_ENST00000536831.1_Missense_Mutation_p.R384C|RRP12_ENST00000414986.1_Missense_Mutation_p.R605C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	666						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATGAGGGTGCGCAGGGCCTGG	0.667000													3	29					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976472	38976472	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:38976472G>A	ENST00000355481.4	+	34	5308	c.5177G>A	c.(5176-5178)cGc>cAc	p.R1726H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1726H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1726H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCCGCAGCCGCCGCTCCATG	0.647000													8	80					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163880	139163880	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr8:139163880G>C	ENST00000395297.1	-	13	3008	c.2838C>G	c.(2836-2838)atC>atG	p.I946M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	946										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTTCCTGTTGATGGCATCAG	0.502000										HNSCC(54;0.14)			15	150					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	29					0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36936728	36936728	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:36936728T>C	ENST00000269554.3	-	4	964	c.484A>G	c.(484-486)Aac>Gac	p.N162D	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	162	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TTTAAGATGTTGTGCATCTCC	0.577000													7	81					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175996718	175996718	+	Silent	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:175996718G>A	ENST00000367669.3	-	15	2233	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	RFWD2_ENST00000308769.8_Silent_p.F549F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	573					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGCACAGCCGAAAGCCAAAT	0.398000													6	54					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr6:29408070G>A	ENST00000444197.2	+	1	988	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587000													6	61					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828942	115828942	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:115828942C>A	ENST00000369512.2	-	3	643	c.475G>T	c.(475-477)Gtg>Ttg	p.V159L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	159					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTCCCAACACCATCACCTCC	0.537000													7	84					8.12818e-05	8.7378e-05	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	106					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577000													12	85					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553130	140553130	+	Silent	SNP	C	C	T			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:140553130C>T	ENST00000231137.3	+	1	888	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		238	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N238N(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542000													7	69					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170236677	170236677	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr5:170236677G>A	ENST00000518525.1	+	10	1402	c.938G>A	c.(937-939)tGc>tAc	p.C313Y	GABRP_ENST00000265294.4_Missense_Mutation_p.C313Y|GABRP_ENST00000519598.1_Missense_Mutation_p.C313Y|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	313						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGGGATCTGCTTTAGCTTT	0.502000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	90					0	0	1	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25889581	25889581	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:25889581G>A	ENST00000374338.4	+	6	672	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	185	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACAAAGCCAGCCAAGA	0.617000													7	69					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946198	72946198	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr11:72946198G>A	ENST00000311131.2	+	3	1461	c.994G>A	c.(994-996)Gct>Act	p.A332T	P2RY2_ENST00000393596.2_Missense_Mutation_p.A332T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A332T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	332					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGCCACCCCGGCTCGCCGCAG	0.637000													3	30					0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825634	52825634	+	Missense_Mutation	SNP	G	G	A	rs150967779	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:52825634G>A	ENST00000375511.3	-	2	865	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	38										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTTCAAACTCGGTTCGAGGAC	0.393000													11	46					0	0	1	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	92					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122902	119122902	+	Silent	SNP	G	G	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr8:119122902G>C	ENST00000378204.2	-	1	1190	c.384C>G	c.(382-384)gcC>gcG	p.A128A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	128					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTAACTTTCGGCGATTTTCT	0.512000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				5	82					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227	by1000genomes	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448000													4	195					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27669200	27669200	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr2:27669200G>C	ENST00000260570.3	-	43	4785	c.4682C>G	c.(4681-4683)tCt>tGt	p.S1561C	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1561					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAGTGAAACAGAAAGCCTGGC	0.507000													5	53					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562088	11562088	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr1:11562088G>A	ENST00000294484.6	+	2	1177	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E347K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	347					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTTTCCCACCGAGAGGGGCGG	0.642000													5	25					0	0	1	0	0
hsa-mir-7162	0	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694																											GGGGGCTCCGGGTAGGGGTTCA	0.609													2	4	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													7	50	---	---	---	---					
CTB-180A7.3	0	broad.mit.edu	37	19	6350189	6350189	+	RNA	DEL	A	A	-			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr19:6350189delA	ENST00000595644.1	-	0	358																											aggggaggggagggaagggtc	0.582													2	4	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggc>g	p.GS68del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	68	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													7	113	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			5	2	---	---	---	---					
SRPK3	26576	broad.mit.edu	37	X	153049636	153049636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9MC-01A-31D-A41K-08	TCGA-ZG-A9MC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f35d13e-3184-4b59-a41b-85912d6c2749	852a3a94-37d0-4e43-a01a-648fec2868c3	g.chrX:153049636delA	ENST00000489426.1	+	16	3682	c.1316delA	c.(1315-1317)cgfs	p.Q439fs	SRPK3_ENST00000370101.3_Frame_Shift_Del_p.Q372fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.Q371fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.Q339fs|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.Q297fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.Q338fs			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	372	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCCAATCAGCGAGAGACC	0.662													8	31	---	---	---	---					
