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
GABRG2	0	broad.mit.edu	37	5	161580306	161580306	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr5:161580306C>T	ENST00000356592.3	+	10	1820	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	GABRG2_ENST00000361925.4_Missense_Mutation_p.R446W|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494W|GABRG2_ENST00000393933.4_Missense_Mutation_p.R351W	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	446					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTCCTATGCTCGGATCTTCTT	0.463000													8	142					0	0	1	0	0
CHCHD6	84303	broad.mit.edu	37	3	126445989	126445989	+	Silent	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:126445989C>A	ENST00000508789.1	+	2	228	c.156C>A	c.(154-156)acC>acA	p.T52T	CHCHD6_ENST00000290913.3_Silent_p.T52T			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	52										endometrium(2)|large_intestine(3)|lung(3)	8						CATCTTCTACCTTTGGCCTTC	0.512000													4	129					1.23904e-05	1.37671e-05	1	1	0
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr11:1024858T>G	ENST00000421673.2	-	24	3261	c.3211A>C	c.(3211-3213)Acc>Ccc	p.T1071P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1071	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687000													6	29					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157502129	157502129	+	Silent	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:157502129G>A	ENST00000346085.5	+	12	3163	c.3162G>A	c.(3160-3162)ggG>ggA	p.G1054G	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G|ARID1B_ENST00000367148.1_Silent_p.G1094G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1041	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACTACTGGGGAGAAGATCA	0.552000													3	46					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84199466	84199466	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr16:84199466G>A	ENST00000378553.5	+	7	1065	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	DNAAF1_ENST00000334315.5_Missense_Mutation_p.R314Q|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	314					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCAGGGAGCGGAAGAAGATC	0.532000													4	103					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058842	79058842	+	Silent	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr15:79058842G>A	ENST00000388820.4	-	19	3621	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGAGCGGCCGGCCTGGCTAG	0.677000													3	12					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239325	104239325	+	Missense_Mutation	SNP	C	C	T	rs146931036		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:104239325C>T	ENST00000374851.1	-	4	1197	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	17						integral to membrane											CCAGGAGAGTCGCCGCAGCCT	0.562000													4	37					0	0	1	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199153	26199153	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:26199153C>A	ENST00000341023.1	-	1	318	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	107					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGCAGAACACCGCCCTGAGCA	0.522000													4	137					0.150653	0.150653	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423000													4	89					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89673074	89673074	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:89673074G>A	ENST00000369485.4	-	1	241	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	RNGTT_ENST00000538899.1_5'UTR|RNGTT_ENST00000369475.3_Missense_Mutation_p.P19S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P19S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	19	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCTGCCACCGGCTGGCCGCGC	0.667000													3	59					0	0	1	0	0
FAM86B2	653333	broad.mit.edu	37	8	12287957	12287957	+	Missense_Mutation	SNP	C	C	T	rs148629503	by1000genomes	TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr8:12287957C>T	ENST00000262365.4	-	4	243	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	82										endometrium(1)|kidney(2)	3						TGGACAGCCTCGTGCTGGGGG	0.537000													9	47					0	0	1	0	0
FAM86JP	0	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													5	135					0	0	1	0	0
CTSL	1514	broad.mit.edu	37	9	90343270	90343270	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:90343270G>T	ENST00000343150.5	+	4	1245	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron					cathepsin L																		CAGATCTGTGGATTGGAGAGA	0.493000													6	69					0.0215528	0.0226871	1	1	0
FAM86JP	0	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													5	130					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140158931	140158931	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:140158931T>C	ENST00000255977.2	-	4	871	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	216							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CACTGCAGCATAGGGGCACAG	0.562000													4	146					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111531	55111531	+	Silent	SNP	C	C	T	rs78253574		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr11:55111531C>T	ENST00000314721.2	+	1	905	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y285*(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTTAATATACTCGTTGAGAC	0.303000													3	42					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158630643	158630643	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr5:158630643T>C	ENST00000274542.2	-	2	93	c.67A>G	c.(67-69)Aag>Gag	p.K23E	RNF145_ENST00000518802.1_Missense_Mutation_p.K25E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.K12E|RNF145_ENST00000520638.1_Missense_Mutation_p.K9E|RNF145_ENST00000424310.2_5'UTR	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	ring finger protein 145	0						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttctttttttttttc	0.363000													3	44					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33529773	33529773	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr12:33529773T>A	ENST00000228567.3	-	7	1860	c.1564A>T	c.(1564-1566)Aca>Tca	p.T522S	SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	522						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CATTATGGTGTGGAAGGTGGT	0.408000													3	40					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71783123	71783123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr2:71783123delC	ENST00000258104.3	+	22	2361	c.2084delC	c.(2083-2085)gcfs	p.A695fs	DYSF_ENST00000410020.3_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.A712fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.A695fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.A696fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.A696fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.A682fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.A712fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.A727fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.A726fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	695						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCCACCTGGCCCTGAAGGCG	0.667													2	4	---	---	---	---					
MYO7B	4648	broad.mit.edu	37	2	128393477	128393477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr2:128393477delA	ENST00000389524.4	+	43	5979	c.5926delA	c.(5926-5928)aafs	p.K1977fs	MYO7B_ENST00000409090.1_Frame_Shift_Del_p.K829fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.K1976fs|MYO7B_ENST00000409816.2_Frame_Shift_Del_p.K1976fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1976	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGGAGTGGAAAAAGGTCCC	0.617													2	4	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													8	159	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													4	9	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74300803	74300804	+	RNA	INS	-	-	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:74300803_74300804insA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTTCATACTTAAAAAAAAAAA	0.455													2	4	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													7	79	---	---	---	---					
