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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
RP11-206L10.2	0	broad.mit.edu	37	1	700594	700596	+	RNA	DEL	ATC	ATC	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	ATC	ATC	-	-	ATC	ATC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:700594_700596delATC	ENST00000428504.1	-	0	957_959					NR_033908.1					NA											NA						AGGGTATGGGATCATCACCGGAC	0.325		NA											False	2	False	1:700594	0
EXTL2	2135	broad.mit.edu	37	1	101339575	101339576	+	Frame_Shift_Ins	INS	-	-	ATGTATTTTTTTAAGCAAC			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	ENST00000370114.3	-	5	2351_2352	c.915_916insGTTGCTTAAAAAAATACAT	c.(913-918)gatagcfs	p.S306fs	EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs|EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	306					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AAGGGCATGCTATCATAGATAT	0.351		NA											False	0	False	1:101339575	0
OR5P3	120066	broad.mit.edu	37	11	7846922	7846923	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:7846922_7846923insT	ENST00000328375.1	-	1	596_597	c.597_598insA	c.(595-600)ccagctfs	p.A200fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGAGATAGCTGGAATTATTT	0.411		NA											False	1	False	11:7846922	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
CCDC62	84660	broad.mit.edu	37	12	123273474	123273475	+	In_Frame_Ins	INS	-	-	TTTGAAAATGGTTATCCT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:123273474_123273475insTTTGAAAATGGTTATCCT	ENST00000253079.6	+	5	1012_1013	c.668_669insTTTGAAAATGGTTATCCT	c.(667-672)aaagag>aaTTTGAAAATGGTTATCCTagag	p.223_223K>NLKMVIL	CCDC62_ENST00000392441.4_In_Frame_Ins_p.223_223K>NLKMVIL|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	223						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AACAAACTAAAAGGTAAGGAAG	0.351		NA											False	0	True	12:123273474	0
AP1G1	164	broad.mit.edu	37	16	71773244	71773245	+	Splice_Site	INS	-	-	TGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:71773244_71773245insTGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT	ENST00000299980.4	-	20	2441	c.2000_2000insAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCA	c.(1999-2001)ggt>gAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCAgt	p.667_667G>ELLLLFLNNHISLLS	AP1G1_ENST00000564155.1_Splice_Site_p.92_92G>ELLLLFLNNHISLLS|AP1G1_ENST00000423132.2_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000433195.2_Splice_Site_p.690_690G>ELLLLFLNNHISLLS|AP1G1_ENST00000393512.3_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000569748.1_Splice_Site_p.667_667G>ELLLLFLNNHISLLS	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	667					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTGGAGCACCTAAAGGAAAT	0.441		NA											False	0	False	16:71773244	0
AP1G1	164	broad.mit.edu	37	16	71773246	71773247	+	Splice_Site	INS	-	-	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:71773246_71773247insG	ENST00000299980.4	-	20	2441		c.e20-2		AP1G1_ENST00000564155.1_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000569748.1_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	NA					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGGAGCACCTAAAGGAAATAT	0.446		NA											False	0	True	16:71773246	0
TRAPPC8	22878	broad.mit.edu	37	18	29419411	29419412	+	Frame_Shift_Ins	INS	-	-	ATCAAAAAAGGTTTGAGCTTTATTTT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr18:29419411_29419412insATCAAAAAAGGTTTGAGCTTTATTTT	ENST00000283351.4	-	27	4181_4182	c.3846_3847insAAAATAAAGCTCAAACCTTTTTTGAT	c.(3844-3849)ccagaafs	p.E1283fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.E1229fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1283					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTTCCATTTCTGGTGGCTCCT	0.317		NA											False	0	False	18:29419411	0
CHMP2A	27243	broad.mit.edu	37	19	59063528	59063530	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:59063528_59063530delTCT	ENST00000600118.1	-	3	796_798	c.371_373delAGA	c.(370-375)aagatc>atc	p.K124del	CHMP2A_ENST00000312547.2_In_Frame_Del_p.K124del|CHMP2A_ENST00000601220.1_In_Frame_Del_p.K124del			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	124	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCCATCATGATCTTCTGGATCTG	0.517		NA											False	2	False	19:59063528	0
STAU1	6780	broad.mit.edu	37	20	47734946	47734947	+	Splice_Site	INS	-	-	ATTGCG			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:47734946_47734947insATTGCG	ENST00000371856.2	-	10	1524		c.e10-1		STAU1_ENST00000360426.4_Splice_Site|STAU1_ENST00000347458.5_Splice_Site|STAU1_ENST00000371828.3_Splice_Site|STAU1_ENST00000371802.1_Splice_Site|STAU1_ENST00000340954.7_Splice_Site|STAU1_ENST00000371792.1_Splice_Site	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	NA						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTATGGGTGTCTTAAAAAAGAA	0.371		NA											False	0	False	20:47734946	0
SYCP2	10388	broad.mit.edu	37	20	58449064	58449065	+	Frame_Shift_Ins	INS	-	-	TCTCTTTATCAGATATATCTGAAGGTAGTAA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAGGTAGTAA	ENST00000357552.3	-	35	3626_3627	c.3401_3402insTTACTACCTTCAGATATATCTGATAAAGAGA	c.(3400-3402)acafs	p.-1134fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	NA					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302		NA											False	0	True	20:58449064	0
HUWE1	10075	broad.mit.edu	37	X	53563494	53563495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:53563494_53563495insG	ENST00000342160.3	-	78	12728_12729	c.12271_12272insC	c.(12271-12273)tacfs	p.Y4091fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.Y4091fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4091	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTGATGGTGTAGGTGACTCGA	0.505		NA											False	0	False	X:53563494	0
ARHGAP15	55843	broad.mit.edu	37	2	144193264	144193265	+	Frame_Shift_Ins	INS	-	-	GTAAAGAAACT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:144193264_144193265insGTAAAGAAACT	ENST00000295095.6	+	7	736_737	c.569_570insGTAAAGAAACT	c.(568-573)agattgfs	p.L191fs	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	191					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GCAATTGACAGATTGGTATGTA	0.322		NA											False	0	False	2:144193264	0
ARHGAP15	55843	broad.mit.edu	37	2	144193267	144193268	+	Splice_Site	DEL	TG	TG	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:144193267_144193268delTG	ENST00000295095.6	+	7	739_740	c.572_573delTG	c.(571-573)ttg>t	p.L191fs	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	191					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATTGACAGATTGGTATGTATTT	0.327		NA											False	1	True	2:144193267	0
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483		NA											False	1	True	2:233708804	0
NR3C2	0	broad.mit.edu	37	4	149181227	149181228	+	Frame_Shift_Ins	INS	-	-	TCCTA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:149181227_149181228insTCCTA	ENST00000358102.3	-	3	2161_2162	c.1799_1800insTAGGA	c.(1798-1800)tcafs	p.-600fs	NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000342437.4_Frame_Shift_Ins_p.-600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	NA					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AACATATTTTTGAAGGTCTTGA	0.421		NA											False	0	True	4:149181227	0
NR3C2	0	broad.mit.edu	37	4	149181228	149181229	+	Frame_Shift_Ins	INS	-	-	TGTGTAGTTTACTTGTACAGCT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:149181228_149181229insTGTGTAGTTTACTTGTACAGCT	ENST00000358102.3	-	3	2160_2161	c.1798_1799insAGCTGTACAAGTAAACTACACA	c.(1798-1800)tcafs	p.S600fs	NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000342437.4_Frame_Shift_Ins_p.S600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	600	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ACATATTTTTGAAGGTCTTGAA	0.421		NA											False	0	False	4:149181228	0
GUCY1B3	2983	broad.mit.edu	37	4	156723556	156723557	+	Frame_Shift_Ins	INS	-	-	AAAGGTGATGCTGGCAGCCCTGAGACTATTATGA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:156723556_156723557insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	ENST00000507146.1	+	11	1663_1664	c.1163_1164insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	c.(1162-1167)cctgccfs	p.A389fs	GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000513437.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000505154.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000264424.8_Frame_Shift_Ins_p.A414fs|GUCY1B3_ENST00000505764.1_Frame_Shift_Ins_p.A394fs|GUCY1B3_ENST00000502959.1_Frame_Shift_Ins_p.A436fs			Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	414					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CGTCCAGTGCCTGCCAAAAGAT	0.485		NA											False	0	True	4:156723556	0
SH3RF1	57630	broad.mit.edu	37	4	170190304	170190305	+	In_Frame_Ins	INS	-	-	AGATAAATATTACACAGTAGTGCCAAAGGT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:170190304_170190305insAGATAAATATTACACAGTAGTGCCAAAGGT	ENST00000284637.9	-	2	400_401	c.59_60insACCTTTGGCACTACTGTGTAATATTTATCT	c.(58-60)gat>gaACCTTTGGCACTACTGTGTAATATTTATCTt	p.20_20D>EPLALLCNIYL		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	20						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCAGAAGCATCAAGGCGCTC	0.455		NA											False	0	False	4:170190304	0
DNAJC21	134218	broad.mit.edu	37	5	34950433	34950434	+	Frame_Shift_Ins	INS	-	-	TAAATATAATACT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:34950433_34950434insTAAATATAATACT	ENST00000382021.2	+	11	1706_1707	c.1479_1480insTAAATATAATACT	c.(1480-1482)agtfs	p.S494fs	DNAJC21_ENST00000342382.4_Frame_Shift_Ins_p.S449fs|DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Frame_Shift_Ins_p.S462fs	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	449					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ATGATCCAAAAAGTGAAGCTAA	0.312		NA											False	0	True	5:34950433	0
UBR5	51366	broad.mit.edu	37	8	103335695	103335696	+	Frame_Shift_Ins	INS	-	-	ATGAATG			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:103335695_103335696insATGAATG	ENST00000521922.1	-	14	2133_2134	c.1609_1610insCATTCAT	c.(1609-1611)catfs	p.H537fs	UBR5_ENST00000520539.1_Frame_Shift_Ins_p.H543fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.H543fs			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	543					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTCCAGCATGATAAAGAGGA	0.322		NA											False	0	False	8:103335695	0
OC90	729330	broad.mit.edu	37	8	133048648	133048648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:133048648delC	ENST00000262283.5	-	13	1384	c.1285delG	c.(1285-1287)gctfs	p.A429fs	OC90_ENST00000443356.2_Frame_Shift_Del_p.A233fs|OC90_ENST00000254627.3_Intron|OC90_ENST00000603859.1_Intron			Q02509	OC90_HUMAN	otoconin 90	233	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTGTCAGCCTCAGTCTCT	0.443		NA											False	2	False	8:133048648	0
LRRC19	64922	broad.mit.edu	37	9	26995759	26995760	+	Frame_Shift_Ins	INS	-	-	TGGTAGATGATGATGGATTTATTGAAGACAA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:26995759_26995760insTGGTAGATGATGATGGATTTATTGAAGACAA	ENST00000380055.5	-	5	982_983	c.872_873insTTGTCTTCAATAAATCCATCATCATCTACCA	c.(871-873)atcfs	p.-291fs	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	NA						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TTGGGCATTTGATAGCAATAAA	0.366		NA											False	0	False	9:26995759	0
RIMBP2	23504	broad.mit.edu	37	12	130921729	130921729	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130921729G>A	ENST00000261655.4	-	10	1876	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G	RIMBP2_ENST00000536002.1_Silent_p.G479G|RIMBP2_ENST00000535703.1_Silent_p.G479G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	571	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACGGACTCGCCCTGGGCGG	0.662		NA											False	0	True	12:130921729	0
LTBP2	4053	broad.mit.edu	37	14	74968210	74968210	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:74968210G>A	ENST00000261978.4	-	35	5640	c.5254C>T	c.(5254-5256)Cgg>Tgg	p.R1752W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1752	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCCTCCCGCACGCGCACA	0.622		NA									OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:74968210	0
NUDT6	11162	broad.mit.edu	37	4	123843664	123843664	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:123843664G>T	ENST00000304430.5	-	1	97	c.64C>A	c.(64-66)Cct>Act	p.P22T	NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	22						mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCGCCGAAGGCCCGGGGCCG	0.682		NA											False	0	True	4:123843664	0
KIFAP3	22920	broad.mit.edu	37	1	169985603	169985603	+	Splice_Site	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:169985603C>A	ENST00000367765.1	-	10	2564	c.1063G>T	c.(1063-1065)Ggc>Tgc	p.G355C	KIFAP3_ENST00000361580.2_Splice_Site_p.G395C|KIFAP3_ENST00000540905.1_Splice_Site_p.G97C|KIFAP3_ENST00000538366.1_Splice_Site_p.G317C|KIFAP3_ENST00000367767.1_Splice_Site_p.G351C	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	395					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAGCATACCTAGGAGTGCA	0.413		NA											False	0	False	1:169985603	0
TIE1	7075	broad.mit.edu	37	1	43778910	43778910	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:43778910G>A	ENST00000372476.3	+	13	2111	c.2032G>A	c.(2032-2034)Gtt>Att	p.V678I	TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	678	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCAAGTACGTTGTGGAGGT	0.632		NA											False	0	False	1:43778910	0
DNAH11	8701	broad.mit.edu	37	7	21611423	21611423	+	Splice_Site	SNP	G	G	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:21611423G>T	ENST00000328843.6	+	8	1456		c.e8-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	NA					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTTACAAAGGATATATTTG	0.338		NA							Kartagener syndrome				False	0	True	7:21611423	0
CCDC8	83987	broad.mit.edu	37	19	46915715	46915715	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:46915715C>T	ENST00000307522.3	-	1	1126	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	118						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGGGCCCTGGCGGCTCTTGTC	0.637		NA											False	0	False	19:46915715	0
KMT2D	8085	broad.mit.edu	37	12	49433687	49433687	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:49433687G>A	ENST00000301067.7	-	31	7865	c.7866C>T	c.(7864-7866)gaC>gaT	p.D2622D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GGAGGGATCCGTCGGGTGCAG	0.647		NA											False	0	False	12:49433687	0
RFX7	64864	broad.mit.edu	37	15	56535410	56535410	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:56535410T>C	ENST00000423270.1	-	1	73	c.74A>G	c.(73-75)aAc>aGc	p.N25S	RFX7_ENST00000317318.6_Missense_Mutation_p.N25S|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	672					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCCCGAGTTGGGGGCGCT	0.652		NA											False	0	False	15:56535410	0
DNAH3	55567	broad.mit.edu	37	16	21082034	21082034	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:21082034G>A	ENST00000261383.3	-	22	3197	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	DNAH3_ENST00000415178.1_Silent_p.C1066C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1066	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTTACCCGGCATTCTGCTT	0.428		NA											False	0	False	16:21082034	0
DNAH5	1767	broad.mit.edu	37	5	13811871	13811871	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:13811871G>A	ENST00000265104.4	-	44	7396	c.7292C>T	c.(7291-7293)tCt>tTt	p.S2431F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2431	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGGGAAAGACTCGGTGTA	0.428		NA							Kartagener syndrome				False	0	True	5:13811871	0
ZNF154	7710	broad.mit.edu	37	19	58216263	58216263	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:58216263G>A	ENST00000512439.2	-	2	314	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C			Q13106	ZN154_HUMAN	zinc finger protein 154	40	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCACATCACGGTACAGGCAT	0.507		NA											False	0	False	19:58216263	0
OR13C2	392376	broad.mit.edu	37	9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373		NA											False	0	False	9:107367884	0
CAMK1D	57118	broad.mit.edu	37	10	12870810	12870810	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:12870810C>T	ENST00000378847.3	+	11	1419	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	361	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCTTCTTCGTCGGGGGTCTCA	0.592		NA											False	0	True	10:12870810	0
SGIP1	84251	broad.mit.edu	37	1	67137671	67137671	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:67137671C>A	ENST00000371037.4	+	11	630	c.553C>A	c.(553-555)Ctt>Att	p.L185I	AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	185	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AACTCCAGAACTTATAAGGTG	0.403		NA											False	0	False	1:67137671	0
ZNF366	0	broad.mit.edu	37	5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	rs112462947	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:71739855C>T	ENST00000318442.5	-	5	2453	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642		NA											False	0	True	5:71739855	0
ADM	133	broad.mit.edu	37	11	10327978	10327978	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:10327978G>A	ENST00000526492.1	+	4	542	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	ADM_ENST00000525063.1_Silent_p.T116T|ADM_ENST00000534464.1_Silent_p.T69T|ADM_ENST00000530439.1_Silent_p.T48T|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000528655.1_Silent_p.T116T			P35318	ADML_HUMAN	adrenomedullin	0					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GGACGTGCACGGTGCAGAAGC	0.642		NA											False	0	False	11:10327978	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NA											False	0	False	9:137328351	0
FAM135B	51059	broad.mit.edu	37	8	139380170	139380170	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139380170A>T	ENST00000395297.1	-	2	227	c.57T>A	c.(55-57)aaT>aaA	p.N19K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	19										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)			AGAGATCCACATTATAAAATT	0.378		NA								HNSCC(54;0.14)			False	0	False	8:139380170	0
TAF4	6874	broad.mit.edu	37	20	60585136	60585136	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:60585136A>G	ENST00000252996.4	-	4	1726	c.1727T>C	c.(1726-1728)gTa>gCa	p.V576A	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCCCCTGGTACCGTGCGCTG	0.617		NA											False	0	False	20:60585136	0
HOXB3	3213	broad.mit.edu	37	17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:46627995C>T	ENST00000470495.1	-	2	2444	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCTTGGAGGACGTGCGGCTCA	0.721		NA									OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:46627995	0
MTNR1B	4544	broad.mit.edu	37	11	92715455	92715455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715455C>T	ENST00000257068.2	+	2	1072	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	356					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CATTGGTGTGCAGCACCAGGC	0.587		NA											False	0	False	11:92715455	0
AIDA	64853	broad.mit.edu	37	1	222885606	222885606	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:222885606T>G	ENST00000340020.6	-	1	260	c.54A>C	c.(52-54)agA>agC	p.R18S	AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Intron	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	18					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGTCGGCGCCTCTCCTAAAAC	0.672		NA											False	0	False	1:222885606	0
GRN	2896	broad.mit.edu	37	17	42428464	42428464	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:42428464C>A	ENST00000053867.3	+	8	830	c.768C>A	c.(766-768)atC>atA	p.I256I	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	256					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGACCTGATCCAGAGTAAGT	0.607		NA									OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:42428464	0
TMEM132D	121256	broad.mit.edu	37	12	130184899	130184899	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130184899G>A	ENST00000422113.2	-	2	750	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	142						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGGGCCGGCTCAGGTAG	0.527		NA											False	0	False	12:130184899	0
XYLT1	64131	broad.mit.edu	37	16	17228362	17228362	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:17228362C>T	ENST00000261381.6	-	9	2079	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607		NA											False	0	False	16:17228362	0
HNF4G	3174	broad.mit.edu	37	8	76459877	76459877	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:76459877C>A	ENST00000396423.2	+	3	437	c.313C>A	c.(313-315)Cga>Aga	p.R105R	HNF4G_ENST00000354370.1_Silent_p.R68R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	68					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGATATTGTCGATTAAGAAA	0.294		NA											False	0	False	8:76459877	0
KCNK3	3777	broad.mit.edu	37	2	26950912	26950912	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:26950912G>A	ENST00000302909.3	+	2	786	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	221					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCAGTACGTGGCCTTCAG	0.617		NA											False	0	False	2:26950912	0
CMIP	80790	broad.mit.edu	37	16	81479102	81479102	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:81479102C>G	ENST00000537098.3	+	1	328	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	52	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCGCTGGGAGCCGCACCACCT	0.667		NA											False	0	False	16:81479102	0
TP53	7157	broad.mit.edu	37	17	7578260	7578260	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:7578260C>T	ENST00000420246.2	-	6	721	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	TP53_ENST00000445888.2_Missense_Mutation_p.V197M|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V197M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	197	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTTCCTTCCACTCGGATAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578260	0
KLHDC8A	55220	broad.mit.edu	37	1	205312564	205312564	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:205312564C>T	ENST00000367156.3	-	5	985	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	57										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCCACTGGTCGGCCTCCGGG	0.701		NA											False	0	False	1:205312564	0
SSTR1	0	broad.mit.edu	37	14	38678945	38678945	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:38678945C>T	ENST00000267377.2	+	3	968	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TAGTCACCTCCACGTTGTTGC	0.577		NA											False	0	False	14:38678945	0
RP11-468E2.9	0	broad.mit.edu	37	14	24505740	24505740	+	RNA	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:24505740G>A	ENST00000558293.1	+	0	79					NR_102693.1					NA											NA						AGGCCACTGTGCCCGGGCAGG	0.657		NA											False	0	True	14:24505740	0
ASZ1	136991	broad.mit.edu	37	7	117008694	117008694	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:117008694A>G	ENST00000284629.2	-	11	1195	c.1133T>C	c.(1132-1134)aTt>aCt	p.I378T		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	378					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAACTCAGTAATAACATTCTG	0.308		NA											False	0	False	7:117008694	0
MBD5	0	broad.mit.edu	37	2	149227347	149227347	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:149227347G>A	ENST00000407073.1	+	9	2832	c.1835G>A	c.(1834-1836)gGc>gAc	p.G612D	MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	612						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCGGCAGTGGCAACACTGAA	0.488		NA											False	0	False	2:149227347	0
TXK	7294	broad.mit.edu	37	4	48114421	48114421	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:48114421G>A	ENST00000264316.4	-	4	368	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	95	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGTTCTCTGGGCAGAAAATCA	0.502		NA											False	0	True	4:48114421	0
MAPT	4137	broad.mit.edu	37	17	44060673	44060673	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:44060673G>A	ENST00000344290.5	+	6	825	c.503G>A	c.(502-504)cGc>cAc	p.R168H	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168H|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168H|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	168					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GAGGCCACACGCCAACCTTCG	0.697		NA											False	0	False	17:44060673	0
PLEKHH2	130271	broad.mit.edu	37	2	43958705	43958705	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:43958705C>T	ENST00000282406.4	+	19	3017	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	969	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328		NA											False	0	False	2:43958705	0
TRIM68	55128	broad.mit.edu	37	11	4623634	4623634	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:4623634C>A	ENST00000300747.5	-	4	820	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	177					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCGGGTTTCCACCTGTATCT	0.463		NA											False	0	False	11:4623634	0
PCDHGA2	0	broad.mit.edu	37	5	140720414	140720414	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:140720414G>A	ENST00000394576.2	+	1	1876	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				NA								p.V626L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687		NA											False	0	False	5:140720414	0
ABLIM1	3983	broad.mit.edu	37	10	116307515	116307515	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:116307515C>G	ENST00000533213.2	-	5	815	c.514G>C	c.(514-516)Gat>Cat	p.D172H	ABLIM1_ENST00000277895.5_Missense_Mutation_p.D232H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H			O14639	ABLM1_HUMAN	actin binding LIM protein 1	232	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCTTGATATCTCTTCCGCAG	0.537		NA											False	0	False	10:116307515	0
FAM135B	51059	broad.mit.edu	37	8	139209792	139209792	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139209792G>A	ENST00000395297.1	-	8	960	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	264										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)			GGGATGTCCCGCATGATCACC	0.622		NA								HNSCC(54;0.14)			False	0	True	8:139209792	0
UBR2	23304	broad.mit.edu	37	6	42620364	42620364	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:42620364C>T	ENST00000372899.1	+	25	3008	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	UBR2_ENST00000372883.3_Missense_Mutation_p.S421L|UBR2_ENST00000372901.1_Missense_Mutation_p.S917L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	917					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATGCCTGGTCAGAGTCCATG	0.373		NA											False	0	False	6:42620364	0
MYO7B	4648	broad.mit.edu	37	2	128354060	128354060	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:128354060G>A	ENST00000389524.4	+	19	2321	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	MYO7B_ENST00000409816.2_Silent_p.E756E|MYO7B_ENST00000428314.1_Silent_p.E756E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	756	IQ 1.					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)		CTCTGCTGGAGGTACAGAGAA	0.637		NA											False	0	False	2:128354060	0
NPAT	4863	broad.mit.edu	37	11	108040579	108040579	+	Splice_Site	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:108040579C>T	ENST00000278612.8	-	15	3007	c.2902G>A	c.(2902-2904)Gtt>Att	p.V968I		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	968					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATATGAAGAACCTGGAAGAGA	0.423		NA											False	0	False	11:108040579	0
TECTA	7007	broad.mit.edu	37	11	121023690	121023690	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:121023690C>T	ENST00000392793.1	+	13	4477	c.4206C>T	c.(4204-4206)tgC>tgT	p.C1402C	TECTA_ENST00000264037.2_Silent_p.C1402C			O75443	TECTA_HUMAN	tectorin alpha	1402	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCACTACTGCGTGGAGGGCT	0.622		NA											False	0	False	11:121023690	0
MYO9B	4650	broad.mit.edu	37	19	17313080	17313080	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:17313080G>A	ENST00000595618.1	+	28	4956	c.4804G>A	c.(4804-4806)Ggc>Agc	p.G1602S	MYO9B_ENST00000594824.1_Missense_Mutation_p.G1602S|MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1602	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTTCACCCGTGGCTACACCAA	0.597		NA											False	0	False	19:17313080	0
MANEAL	149175	broad.mit.edu	37	1	38260133	38260133	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:38260133C>A	ENST00000373045.6	+	1	660	c.279C>A	c.(277-279)ccC>ccA	p.P93P	MANEAL_ENST00000397631.3_Silent_p.P93P	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	93	Pro-rich.					Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCGAGCCCGCCCCCGTGC	0.791		NA											False	0	True	1:38260133	0
NWD1	284434	broad.mit.edu	37	19	16860012	16860012	+	Missense_Mutation	SNP	G	G	A	rs142661674		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:16860012G>A	ENST00000524140.2	+	6	977	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000552788.1_Missense_Mutation_p.V187I	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	187							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGCCACCGTCTTCCTTAG	0.582		NA											False	0	False	19:16860012	0
FBXO44	93611	broad.mit.edu	37	1	11716084	11716084	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:11716084C>T	ENST00000376770.1	+	3	690	c.192C>T	c.(190-192)ccC>ccT	p.P64P	FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO44_ENST00000251547.5_Silent_p.P64P|FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376762.4_Silent_p.P64P	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	64					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACCAGCCCGTGGCCGACT	0.627		NA											False	0	True	1:11716084	0
ARID1A	8289	broad.mit.edu	37	1	27099947	27099947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099947C>T	ENST00000324856.7	+	15	4197	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1276					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGGGACCACGACAGCACTA	0.602		NA	"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								False	0	False	1:27099947	0
DMXL2	23312	broad.mit.edu	37	15	51791633	51791633	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:51791633C>T	ENST00000251076.5	-	18	4075	c.3788G>A	c.(3787-3789)gGa>gAa	p.G1263E	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1263						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATCCATTCCTACCACCAA	0.423		NA											False	0	False	15:51791633	0
SLC1A3	6507	broad.mit.edu	37	5	36608640	36608640	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:36608640G>A	ENST00000265113.4	+	2	591	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	39					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATTACAAAGGAGGATGTTAA	0.453		NA											False	0	False	5:36608640	0
HEATR1	55127	broad.mit.edu	37	1	236751303	236751303	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:236751303G>A	ENST00000366582.3	-	13	1685	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A524V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	524					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACCTAATCGGGCTAAAACAGC	0.328		NA											False	0	True	1:236751303	0
ACTL9	284382	broad.mit.edu	37	19	8808381	8808381	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:8808381G>A	ENST00000324436.3	-	1	791	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	224						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTGGTTGCCCGCCAGGTCCAG	0.662		NA											False	0	True	19:8808381	0
CYP2W1	54905	broad.mit.edu	37	7	1026862	1026862	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:1026862C>T	ENST00000340150.6	+	6	793	c.771C>T	c.(769-771)ggC>ggT	p.G257G	CYP2W1_ENST00000308919.7_Silent_p.G313G			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	313					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TTCTGATGGGCCGGCACCCGG	0.716		NA											False	0	True	7:1026862	0
RYR1	6261	broad.mit.edu	37	19	38976774	38976774	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:38976774C>T	ENST00000355481.4	+	34	5610	c.5479C>T	c.(5479-5481)Cgc>Tgc	p.R1827C	RYR1_ENST00000359596.3_Missense_Mutation_p.R1827C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1827	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)	GCAGCACGCTCGCGACCCCGT	0.692		NA											False	0	False	19:38976774	0
QARS	5859	broad.mit.edu	37	3	49137511	49137511	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr3:49137511C>T	ENST00000306125.6	-	14	1515	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	QARS_ENST00000414533.1_Missense_Mutation_p.G382D			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	393					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAAAACTTGCCCTTGCGCAT	0.552		NA											False	0	True	3:49137511	0
SYNE1	23345	broad.mit.edu	37	6	152527344	152527344	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:152527344G>A	ENST00000367255.5	-	126	23579	c.22978C>T	c.(22978-22980)Cgg>Tgg	p.R7660W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7660					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCAGCCGCATGCTGGCT	0.478		NA								HNSCC(10;0.0054)			False	0	False	6:152527344	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
IQCD	115811	broad.mit.edu	37	12	113645289	113645289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:113645289G>A	ENST00000546692.1	-	2	1056	c.683C>T	c.(682-684)aCt>aTt	p.T228I	IQCD_ENST00000299732.2_Missense_Mutation_p.T228I|IQCD_ENST00000416617.2_Missense_Mutation_p.T228I			Q96DY2	IQCD_HUMAN	IQ motif containing D	228										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTTTCAAGAGTATCAATGAT	0.378		NA											False	0	False	12:113645289	0
VWA8	23078	broad.mit.edu	37	13	42273275	42273275	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr13:42273275G>A	ENST00000379310.3	-	29	3564	c.3496C>T	c.(3496-3498)Cac>Tac	p.H1166Y		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8	NA											NA						ACAAAAGGGTGCCAAACGCCA	0.473		NA											False	0	False	13:42273275	0
DLL4	54567	broad.mit.edu	37	15	41226899	41226899	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:41226899A>T	ENST00000249749.5	+	7	1280	c.1004A>T	c.(1003-1005)aAt>aTt	p.N335I		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	335	EGF-like 4.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTGTCGCAATGGAGGCAGC	0.592		NA											False	0	False	15:41226899	0
ARID1A	8289	broad.mit.edu	37	1	27099479	27099479	+	Splice_Site	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099479G>A	ENST00000324856.7	+	14	4086		c.e14+1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	NA					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGAGGAAAGGTGACTGATCT	0.488		NA	"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								False	0	False	1:27099479	0
UNC13C	440279	broad.mit.edu	37	15	54306714	54306714	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:54306714G>C	ENST00000545554.1	+	1	1614	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q538H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	538					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACTCACAGAGTGATTTTT	0.368		NA											False	0	False	15:54306714	0
STK16	8576	broad.mit.edu	37	2	220113194	220113194	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000409516.3_Silent_p.P159P	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	277	Protein kinase.		P -> L (in dbSNP:rs35454203).		protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGACCCGCATCAGCGTC	0.567		NA											False	0	True	2:220113194	0
MTNR1B	4544	broad.mit.edu	37	11	92715454	92715454	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715454G>A	ENST00000257068.2	+	2	1071	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	355					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCATTGGTGTGCAGCACCAGG	0.582		NA											False	0	False	11:92715454	0
ANO6	196527	broad.mit.edu	37	12	45815050	45815050	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:45815050C>A	ENST00000320560.8	+	18	2616	c.2414C>A	c.(2413-2415)aCa>aAa	p.T805K	ANO6_ENST00000423947.3_Missense_Mutation_p.T826K|ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K|ANO6_ENST00000441606.2_Missense_Mutation_p.T787K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	805					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCATACCACATGCAGGCAA	0.373		NA											False	0	False	12:45815050	0
CYB5R1	51706	broad.mit.edu	37	1	202935980	202935980	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:202935980A>T	ENST00000367249.4	-	2	136	c.62T>A	c.(61-63)cTc>cAc	p.L21H		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	21					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGGCCGAGCAGAGTGAC	0.657		NA											False	0	False	1:202935980	0
DDX59	83479	broad.mit.edu	37	1	200613582	200613582	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:200613582T>C	ENST00000331314.6	-	8	1873	c.1660A>G	c.(1660-1662)Aaa>Gaa	p.K554E	DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	554	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGAGTCTTTTTGAATTATTA	0.363		NA											False	0	True	1:200613582	0
PSMA6	5687	broad.mit.edu	37	14	35761738	35761738	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:35761738A>G	ENST00000261479.4	+	1	176	c.56A>G	c.(55-57)gAg>gGg	p.E19G	PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G|PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTCACCCGAGGGTCGGCTC	0.582		NA											False	0	True	14:35761738	0
