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
ZBTB16	7704	broad.mit.edu	37	11	114112945	114112945	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr11:114112945G>A	ENST00000335953.4	+	5	1890	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.A504T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	504					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGCGCAGAGCGCACTGCAGCA	0.627000													8	21					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44229519	44229519	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:44229519C>T	ENST00000275015.5	-	3	951	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	318					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCCGGCTGGCCCCCTTCAGC	0.657000													9	30					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849909	35849909	+	Silent	SNP	C	C	T	rs148149328		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:35849909C>T	ENST00000327809.4	+	2	318	c.117C>T	c.(115-117)ttC>ttT	p.F39F	FFAR3_ENST00000594310.1_Silent_p.F39F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	39						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.F39F(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGTCTTCGTGGGCAAGC	0.637000													16	108					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36103579	36103579	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:36103579T>C	ENST00000313548.4	+	5	751	c.565T>C	c.(565-567)Tct>Cct	p.S189P		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		TTCAAGTCAATCTTTACCTGT	0.368000													9	19					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58371137	58371137	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:58371137G>T	ENST00000339656.5	+	3	1539	c.1357G>T	c.(1357-1359)Gtt>Ttt	p.V453F	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TCATCTTCTGGTTCATGAGAG	0.433000													11	72					7.03913e-09	7.67905e-09	1	1	0
PMF1	11243	broad.mit.edu	37	1	156203419	156203419	+	Splice_Site	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:156203419G>T	ENST00000368277.3	+	3	277	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368273.4_Splice_Site_p.E92*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTCTCTTCAGGAGGAAATCTC	0.443000													4	110					0.014758	0.014758	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185975	127185975	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:127185975G>T	ENST00000371124.3	-	1	407	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	71						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGGGGTAGTGCAAATGTAGG	0.473000													6	60					3.59834e-05	3.83823e-05	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70843713	70843713	+	Silent	SNP	T	T	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr16:70843713T>A	ENST00000393567.2	-	85	15006	c.14856A>T	c.(14854-14856)acA>acT	p.T4952T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4952										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCTGCCGTGTGTAATTGA	0.507000													9	89					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94517208	94517208	+	Silent	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:94517208C>T	ENST00000370225.3	-	17	2720	c.2634G>A	c.(2632-2634)tcG>tcA	p.S878S	ABCA4_ENST00000535735.1_Silent_p.S804S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	878					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGCCAATACGACTCTTGTA	0.418000													7	56					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207773	58207773	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr13:58207773G>A	ENST00000377918.3	+	1	1119	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	365	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCGAGGCCGCCCCTCCCGG	0.682000													11	24					0	0	1	0	0
IGHV6-1	0	broad.mit.edu	37	14	106405838	106405838	+	RNA	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:106405838C>T	ENST00000390593.2	-	0	187																											ACACTGTCCCCGGAGATGGCA	0.577000													16	55					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745500	19745500	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:19745500C>T	ENST00000203556.4	-	18	2037	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	634	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AAGGGGATCACGGGCTCGGTG	0.667000													21	119					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137763721	137763721	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:137763721G>A	ENST00000314358.5	+	20	4899	c.4699G>A	c.(4699-4701)Gtt>Att	p.V1567I	KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1567	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCTGATGCTGTTAATGTGAT	0.433000													26	117					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47349908	47349908	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr21:47349908C>T	ENST00000400314.1	+	12	1133	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PCBP3_ENST00000400304.1_Splice_Site_p.P255P|PCBP3_ENST00000400310.1_Splice_Site_p.P265P|PCBP3_ENST00000400308.1_Splice_Site_p.P239P|PCBP3_ENST00000449640.1_Splice_Site_p.P265P|PCBP3_ENST00000400309.1_Splice_Site_p.P264P|PRED62_ENST00000593412.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	265					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567000													5	48					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428622	3428622	+	Silent	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:3428622C>T	ENST00000356575.4	-	8	1150	c.924G>A	c.(922-924)aaG>aaA	p.K308K	MEGF6_ENST00000294599.4_Silent_p.K203K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	308	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GACACACGCACTTGAAGGACC	0.667000													12	63					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14213651	14213651	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:14213651C>T	ENST00000308677.4	-	4	509	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	PRKACA_ENST00000589994.1_Missense_Mutation_p.V97I|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	105	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCGAGTTTGACGAGGAACGGA	0.597000													11	68					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25075816	25075816	+	Missense_Mutation	SNP	C	C	T	rs140139906		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:25075816C>T	ENST00000216338.4	-	5	778	c.734G>A	c.(733-735)cGc>cAc	p.R245H	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Missense_Mutation_p.R114H|GZMH_ENST00000382548.4_Missense_Mutation_p.R159H	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	245					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTGTTAGAGGCGCTTCATTGT	0.532000													16	78					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													4	28					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432865	55432865	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr11:55432865G>A	ENST00000314259.3	+	1	252	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCATCTGTCGTTGCCCCCAA	0.448000													13	52					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682327	44682327	+	Silent	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr20:44682327G>A	ENST00000243964.3	+	20	2756	c.2658G>A	c.(2656-2658)gcG>gcA	p.A886A	SLC12A5_ENST00000454036.2_Silent_p.A909A	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCACTGCGGAGGTCGAGG	0.537000													12	51					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997483	28997483	+	RNA	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr7:28997483G>A	ENST00000322982.3	-	0	451				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGGTGAGCACGTCGTGGGGGC	0.652000													7	56					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125499608	125499608	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr8:125499608G>A	ENST00000303545.3	+	2	2090	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	573					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGCCTTCGGAAATGGCTG	0.348000													3	33					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011735	27011735	+	Silent	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:27011735C>A	ENST00000314616.6	+	18	2644	c.2361C>A	c.(2359-2361)tcC>tcA	p.S787S	SUPT6H_ENST00000347486.4_Silent_p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	787					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGCTTTCTCCTCTGCCAGGT	0.468000													3	36					0.004672	0.00487513	1	1	0
DDX41	51428	broad.mit.edu	37	5	176942200	176942200	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:176942200C>T	ENST00000507955.1	-	7	1154	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	211					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGGGGATGCCCTGGATCTGA	0.527000													7	72					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216144041	216144041	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:216144041C>T	ENST00000366943.2	-	36	7269	c.6883G>A	c.(6883-6885)Gga>Aga	p.G2295R	USH2A_ENST00000307340.3_Missense_Mutation_p.G2295R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2295	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGCAAATCCGTAAGCACGA	0.418000										HNSCC(13;0.011)			5	108					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145157448	145157448	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:145157448T>C	ENST00000367545.3	+	70	9836	c.9836T>C	c.(9835-9837)gTg>gCg	p.V3279A	UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3279					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATCTACAGGTGGAGTATGAG	0.488000													26	117					0	0	1	0	0
CD96	0	broad.mit.edu	37	3	111263902	111263902	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:111263902A>G	ENST00000352690.4	+	2	311	c.71A>G	c.(70-72)gAa>gGa	p.E24G	CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GGAGTTTGGGAAAAAACAGTC	0.403000									Opitz Trigonocephaly syndrome				6	51					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38989877	38989877	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:38989877G>A	ENST00000355481.4	+	43	7152	c.7021G>A	c.(7021-7023)Gtc>Atc	p.V2341I	RYR1_ENST00000360985.3_Missense_Mutation_p.V2341I|RYR1_ENST00000359596.3_Missense_Mutation_p.V2341I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2341	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)	TGCTGTCTTCGTCAACGGTGA	0.607000													6	41					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870216	151870216	+	Silent	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:151870216A>T	ENST00000329342.5	+	3	1131	c.906A>T	c.(904-906)ccA>ccT	p.P302P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTACCCACTCCTGCATG	0.567000													22	50					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572000													3	9					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239899	96239899	+	Silent	SNP	C	C	T	rs111764824		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr13:96239899C>T	ENST00000347108.3	-	18	2544	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	DZIP1_ENST00000361396.2_Silent_p.P685P|DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000376829.2_Silent_p.P704P			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	704					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P685P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTGTGGTGGCGGCACAGGAA	0.567000													4	57					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66850145	66850145	+	Silent	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr15:66850145G>A	ENST00000341509.5	-	8	968	c.837C>T	c.(835-837)gcC>gcT	p.A279A	LCTL_ENST00000537670.1_Silent_p.A106A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	279					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTATCTCTCGGCAGCCTCTA	0.498000													8	102					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419126	105419126	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105419126C>T	ENST00000333244.5	-	7	2781	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	888						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCGGAAGGGGGC	0.647000													11	165					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180159574	180159574	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:180159574G>A	ENST00000367602.3	+	10	1221	c.1147G>A	c.(1147-1149)Gtt>Att	p.V383I	QSOX1_ENST00000367600.5_Missense_Mutation_p.V383I			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	383					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGGGTGCCGTTCTTGCCAA	0.542000													31	176					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79984395	79984395	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:79984395C>A	ENST00000373275.4	-	14	1458	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	414										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCAGATGGCAAATTATTGC	0.338000													11	42					7.03913e-09	7.67905e-09	1	1	0
SMPD2	6610	broad.mit.edu	37	6	109763184	109763184	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:109763184A>T	ENST00000258052.3	+	4	591	c.232A>T	c.(232-234)Att>Ttt	p.I78F		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	78					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGCGGAATCATTGGCAGTGG	0.502000													28	156					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057993	17057993	+	Silent	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:17057993C>T	ENST00000443236.1	-	21	2725	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	851						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCAGGATGCCCAACAAACT	0.602000													4	176					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546090	112546090	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:112546090T>C	ENST00000488794.1	-	6	957		c.e6-2		CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CGGGTGTAACTGCAGAGAGGA	0.428000													10	53					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767790	31767790	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:31767790T>C	ENST00000240587.4	-	2	3236	c.2909A>G	c.(2908-2910)gAc>gGc	p.D970G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	970					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGCCAGTGTCCAAGTTTTT	0.522000													5	43					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440625	10440625	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:10440625C>T	ENST00000245503.5	-	16	2206	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V608M|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.V608M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	608	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTCCAACCACGGTCTCATTC	0.488000													17	66					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326822	114326822	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr8:114326822G>A	ENST00000297405.5	-	2	623	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.H127Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H127Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H87Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	127	CUB 1.					integral to membrane|plasma membrane		p.H87N(1)|p.H127N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGTAGGATGAGGATGTCCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	45					0	0	1	0	0
NR4A3	0	broad.mit.edu	37	9	102590779	102590779	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr9:102590779C>T	ENST00000330847.1	+	2	532	c.488C>T	c.(487-489)gCg>gTg	p.A163V	NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	152					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCCCCGCAGGCGGGGGCGTTA	0.741000			T	EWSR1	extraskeletal myxoid chondrosarcoma								4	28					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64825398	64825398	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr12:64825398C>A	ENST00000332707.5	+	18	2586	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	686	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTTACAGACATTCTTGCCA	0.413000													4	51					0.00909568	0.00928921	1	1	0
RP11-680B3.2	0	broad.mit.edu	37	3	148582959	148582960	+	RNA	INS	-	-	A	rs143382113		TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:148582959_148582960insA	ENST00000488190.1	-	0	304																											TCTCCAGCTGGAAAAAAAAAAC	0.436													2	4	---	---	---	---					
MTA1	9112	broad.mit.edu	37	14	105927271	105927271	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105927271delC	ENST00000331320.7	+	10	1137	c.923delC	c.(922-924)acgfs	p.T308fs	MTA1_ENST00000406191.1_Frame_Shift_Del_p.T308fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.T291fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	308	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AAGGATTTCACGGACATTCAG	0.597													2	4	---	---	---	---					
