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
RERE	473	broad.mit.edu	37	1	8716118	8716118	+	Missense_Mutation	SNP	G	G	A	rs139888880	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:8716118G>A	ENST00000337907.3	-	3	873	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_ENST00000400907.2_Missense_Mutation_p.P80L|RERE_ENST00000400908.2_Missense_Mutation_p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	80					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P80Q(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTTTTTTCGGTGGTTTCTT	0.443000													17	255					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562110	11562110	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:11562110A>G	ENST00000294484.6	+	2	1199	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y354C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	354					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)		AAGATCTACTATGACGGCATG	0.607000													18	21					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			29	48					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													7	78					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	76					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													4	16					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	44					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179609053	179609053	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:179609053G>A	ENST00000444136.1	+	10	1850	c.1600G>A	c.(1600-1602)Gta>Ata	p.V534I	TDRD5_ENST00000294848.8_Missense_Mutation_p.V534I|TDRD5_ENST00000367614.1_Missense_Mutation_p.V534I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	534	Tudor.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTCTGTTGTGTAAGGATTTC	0.423000													70	82					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843832	123843832	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr10:123843832G>A	ENST00000369005.1	+	4	2157	c.1817G>A	c.(1816-1818)cGt>cAt	p.R606H	TACC2_ENST00000515273.1_Missense_Mutation_p.R606H|TACC2_ENST00000453444.2_Missense_Mutation_p.R606H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R606H|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R606H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	606						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGCAAGCGTGATCCAGAA	0.572000													3	45					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	45					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894961	77894961	+	Silent	SNP	T	T	C			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr18:77894961T>C	ENST00000262198.4	+	4	2120	c.1665T>C	c.(1663-1665)ccT>ccC	p.P555P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	555					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GAGTTCTTCCTGTGGGCCAGC	0.557000													5	92					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	981217	981217	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:981217C>T	ENST00000448903.2	+	6	764	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AP2A2_ENST00000534328.1_Missense_Mutation_p.T208I|AP2A2_ENST00000332231.5_Missense_Mutation_p.T208I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	208					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGCAGCCACAAGTCTGATC	0.453000													4	8					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061103	89061103	+	Silent	SNP	T	T	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr14:89061103T>G	ENST00000555900.1	+	1	345	c.33T>G	c.(31-33)ccT>ccG	p.P11P	ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000406216.3_Silent_p.P11P|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Silent_p.P11P|ZC3H14_ENST00000251038.5_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	666						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CATCACCACCTCTACCAATTT	0.378000													5	63					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617000													48	78					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55146590	55146590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr19:55146590G>A	ENST00000396331.1	+	12	1876	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T	LILRB1_ENST00000434867.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A508T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A491T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A507T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A491T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A508T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A508T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A557T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	507					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTGCAGGGGCTGTGGGGCC	0.617000										HNSCC(37;0.09)			21	15					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578575	44578575	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr7:44578575G>A	ENST00000289547.4	-	2	1476	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	474					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGATTGAGGGGGGCGTAGCA	0.597000													3	46					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41658830	41658832	+	In_Frame_Del	DEL	TGC	TGC	-	rs150746914	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr6:41658830_41658832delTGC	ENST00000394283.1	-	2	1346_1348	c.120_122delGCA	c.(118-123)caa>ca	p.QQ42del	TFEB_ENST00000403298.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000358871.2_In_Frame_Del_p.QQ56del|TFEB_ENST00000230323.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000373033.1_In_Frame_Del_p.QQ42del|TFEB_ENST00000420312.1_In_Frame_Del_p.QQ42del			P19484	TFEB_HUMAN	transcription factor EB	42	Gln-rich.|Poly-Gln.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q44delQ(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ctgctgctgttgctgctgctgct	0.650			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546141	3546141	+	RNA	DEL	A	A	-	rs74546027		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr16:3546141delA	ENST00000574423.2	+	0	111																											actccgtctcaaaaaaaaaaa	0.557													3	6	---	---	---	---